Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut ATAD3B 83858 broad.mit.edu 37 1 1412682 1412682 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:1412682G>T uc001afv.2 + 2 335 c.234G>T c.(232-234)GCG>GCT p.A78A ATAD3B_uc001afw.2_5'Flank|ATAD3B_uc001afx.2_5'Flank NM_031921 NP_114127 Q5T9A4 ATD3B_HUMAN AAA-ATPase TOB3 78 Potential. ATP binding|nucleoside-triphosphatase activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) TGAATCTGGCGCAGATGCAGG 0.562 NA 75 22 4.59617e-45 8.26114e-45 0.00361 1 0 SLC35E2B 728661 broad.mit.edu 37 1 1607561 1607561 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:1607561C>A uc001ahf.3 - 4 1321 c.400G>T c.(400-402)GCC>TCC p.A134S CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc009vkl.1_Missense_Mutation_p.A134S|SLC35E2B_uc001ahg.3_Missense_Mutation_p.A134S|SLC35E2B_uc001ahh.3_Missense_Mutation_p.A134S|SLC35E2_uc009vkm.1_Intron|SLC35E2B_uc009vkn.1_Missense_Mutation_p.A134S NM_001110781 NP_001104251 P0CK96 S352B_HUMAN similar to solute carrier family 35, member E2 134 integral to membrane 0 GAAAGCCGGGCCTTGTGCTGA 0.527 NA 53 0 2.01807e-28 3.31883e-28 0.00361 1 0 AJAP1 55966 broad.mit.edu 37 1 4829947 4829947 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:4829947C>T uc001alm.1 + 3 1245 c.864C>T c.(862-864)GTC>GTT p.V288V AJAP1_uc001aln.2_Silent_p.V288V NM_001042478 NP_001035943 Q9UKB5 AJAP1_HUMAN adherens junction associated protein 1 288 Helical; Signal-anchor for type III membrane protein; (Potential). cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane lung(1) 1 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) CCATCACCGTCTCCCTCATCA 0.557 NA 302 109 0 0 0.00361 0 0 CHD5 26038 broad.mit.edu 37 1 6181567 6181567 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:6181567G>T uc001amb.1 - 32 4866 c.4766C>A c.(4765-4767)CCC>CAC p.P1589H CHD5_uc001alz.1_Missense_Mutation_p.P446H|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1589 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GACTTCCAGGGGCTGCCTTGG 0.592 NA 7 27 8.12818e-05 8.70909e-05 0.001984 1 0 CHD5 26038 broad.mit.edu 37 1 6206398 6206398 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:6206398C>T uc001amb.1 - 11 1776 c.1676G>A c.(1675-1677)GGG>GAG p.G559E CHD5_uc001ama.1_5'Flank|CHD5_uc001amc.1_RNA NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 559 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GTCTTCATCCCCAGAGCCGTA 0.557 NA 116 35 0 0 0.00361 0 0 C1orf187 374946 broad.mit.edu 37 1 11769435 11769435 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:11769435G>A uc001asr.1 + 3 695 c.555G>A c.(553-555)GCG>GCA p.A185A NM_198545 NP_940947 Q8NBI3 DRAXI_HUMAN chromosome 1 open reading frame 187 precursor 185 axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular region 0 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651) CCAGCCTGGCGCCCACCATGT 0.632 NA 5 29 0 0 0.000602 0 0 LOC649330 649330 broad.mit.edu 37 1 12907569 12907569 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:12907569G>T uc009vno.2 - 1 669 c.574C>A c.(574-576)CAG>AAG p.Q192K HNRNPCL1_uc010obf.1_Missense_Mutation_p.Q192K NM_001146181 NP_001139653 B7ZW38 B7ZW38_HUMAN heterogeneous nuclear ribonucleoprotein C-like 192 nucleic acid binding|nucleotide binding 0 TCCACTTTCTGTTTTATCTGG 0.433 NA 60 398 7.65386e-43 1.36555e-42 0.00361 1 0 NBPF1 55672 broad.mit.edu 37 1 16907943 16907943 + Nonsense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:16907943C>A uc009vos.1 - 15 2239 c.1351G>T c.(1351-1353)GAG>TAG p.E451* NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Nonsense_Mutation_p.E180* NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 451 NBPF 2. cytoplasm 0 UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) AGTACTTTCTCAGCCTCCTCA 0.433 NA 51 459 4.02937e-33 6.87196e-33 0.00361 1 0 MST1P9 11223 broad.mit.edu 37 1 17084510 17084510 + Silent SNP G G A rs61769731 by1000genomes TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:17084510G>A uc010ock.1 - 12 1588 c.1588C>T c.(1588-1590)CTA>TTA p.L530L CROCC_uc009voy.1_Intron|MST1P9_uc001azp.3_Silent_p.L130L NR_002729 SubName: Full=Hepatocyte growth factor-like protein homolog; 0 ACCCGCTGTAGGCCTGGCTCT 0.577 NA 18 199 0 0 0.00499 0 0 MST1P9 11223 broad.mit.edu 37 1 17085373 17085373 + Missense_Mutation SNP C C T rs2092130 by1000genomes TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:17085373C>T uc010ock.1 - 10 1318 c.1318G>A c.(1318-1320)GGG>AGG p.G440R CROCC_uc009voy.1_Intron|MST1P9_uc001azp.3_Missense_Mutation_p.M1I NR_002729 SubName: Full=Hepatocyte growth factor-like protein homolog; 0 TGGCTATCCCCATCTGGGTCT 0.602 NA 8 139 0 0 0.008871 0 0 PADI6 353238 broad.mit.edu 37 1 17708469 17708469 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:17708469G>A uc001bak.1 + 6 561 c.561G>A c.(559-561)ACG>ACA p.T187T NM_207421 NP_997304 Q6TGC4 PADI6_HUMAN peptidylarginine deiminase type 6 179 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) CAGAAATAACGAATCTGTCCC 0.507 NA 11 142 0 0 0.000978 0 0 PAX7 5081 broad.mit.edu 37 1 19029612 19029612 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:19029612C>G uc001bay.2 + 7 1575 c.977C>G c.(976-978)CCT>CGT p.P326R PAX7_uc001baz.2_Missense_Mutation_p.P324R|PAX7_uc010oct.1_Missense_Mutation_p.P326R NM_002584 NP_002575 P23759 PAX7_HUMAN paired box 7 isoform 1 326 anti-apoptosis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX7/FOXO1(197) soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1) 203 Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576) GTGCACCGGCCTCAGCCCCTG 0.667 NA T FOXO1A alveolar rhabdomyosarcoma 17 37 0 0 0.001882 0 0 CAMK2N1 55450 broad.mit.edu 37 1 20810184 20810184 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:20810184G>T uc001bdh.2 - 2 1051 c.195C>A c.(193-195)GAC>GAA p.D65E CAMK2N1_uc001bdg.2_RNA NM_018584 NP_061054 Q7Z7J9 CK2N1_HUMAN calcium/calmodulin-dependent protein kinase II 65 Inhibitory domain (By similarity). cell junction|postsynaptic density|postsynaptic membrane|synaptosome 0 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.0013)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.00116)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195) TTTTCAGCACGTCATCAATCC 0.478 NA 9 50 1.58986e-06 1.77324e-06 0.008291 1 0 KIF17 57576 broad.mit.edu 37 1 21016807 21016807 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:21016807G>C uc001bdr.3 - 7 1373 c.1255C>G c.(1255-1257)CGG>GGG p.R419G KIF17_uc009vpx.2_5'UTR|KIF17_uc001bds.3_Missense_Mutation_p.R419G NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN kinesin family member 17 isoform a 419 Potential. microtubule-based movement|protein transport cytoplasm|microtubule ATP binding ovary(3)|skin(1) 4 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) GCTTTCAGCCGGGCCAGGCGC 0.562 NA 17 47 0 0 0.00499 0 0 ECE1 1889 broad.mit.edu 37 1 21586789 21586789 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:21586789T>C uc001bek.2 - 5 665 c.590A>G c.(589-591)AAA>AGA p.K197R ECE1_uc001bem.2_Missense_Mutation_p.K181R|ECE1_uc001bej.2_Missense_Mutation_p.K185R|ECE1_uc001bei.2_Missense_Mutation_p.K194R|ECE1_uc010odl.1_Missense_Mutation_p.K197R|ECE1_uc009vqa.1_Missense_Mutation_p.K197R NM_001397 NP_001388 P42892 ECE1_HUMAN endothelin converting enzyme 1 isoform 1 197 Extracellular (Potential). bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body metal ion binding|metalloendopeptidase activity|protein homodimerization activity ovary(2)|skin(1) 3 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) CATTAGAGGTTTGGCCCTGAG 0.607 NA 92 269 0 0 0.00361 0 0 EPHA8 2046 broad.mit.edu 37 1 22903330 22903330 + Nonsense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:22903330C>A uc001bfx.1 + 3 905 c.780C>A c.(778-780)TGC>TGA p.C260* EPHA8_uc001bfw.2_Nonsense_Mutation_p.C260* NM_020526 NP_065387 P29322 EPHA8_HUMAN ephrin receptor EphA8 isoform 1 precursor 260 Extracellular (Potential).|Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TCGGCAAATGCGTGTGCAGTG 0.682 NA 25 14 2.41591e-17 3.39562e-17 0.004656 1 0 RHCE 6006 broad.mit.edu 37 1 25701856 25701856 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:25701856C>A uc001bkf.2 - 8 1223 c.1137G>T c.(1135-1137)ACG>ACT p.T379T RHCE_uc001bkg.2_Missense_Mutation_p.V335F|RHCE_uc001bkh.2_Intron|RHCE_uc001bki.2_Silent_p.T228T|RHCE_uc001bkj.2_Silent_p.T363T NM_020485 NP_065231 P18577 RHCE_HUMAN Rhesus blood group, CcEe antigens isoform 1 379 integral to plasma membrane 0 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649) GGAGACCAGACGTGAGAGCTA 0.572 NA 48 176 2.74695e-27 4.46438e-27 0.00361 1 0 FAM46B 115572 broad.mit.edu 37 1 27338968 27338968 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:27338968C>T uc010ofj.1 - 1 366 c.194G>A c.(193-195)AGC>AAC p.S65N NM_052943 NP_443175 Q96A09 FA46B_HUMAN hypothetical protein LOC115572 65 central_nervous_system(1) 1 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419) AATCGGCTCGCTCAGAAGAGC 0.647 NA 16 10 0 0 0.003163 0 0 SESN2 83667 broad.mit.edu 37 1 28601354 28601354 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:28601354C>A uc001bps.2 + 8 1392 c.1039C>A c.(1039-1041)CAT>AAT p.H347N NM_031459 NP_113647 P58004 SESN2_HUMAN sestrin 2 347 cell cycle arrest cytoplasm|nucleus skin(3)|ovary(2)|pancreas(1)|lung(1) 7 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649) CTGGGAAGACCATGGCTACTC 0.557 NA 29 80 2.70662e-09 3.23523e-09 0.009535 1 0 Unknown 0 broad.mit.edu 37 1 33772993 33772993 + Nonsense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:33772993G>A uc001bxd.1 - 5 397 c.397C>T c.(397-399)CAG>TAG p.Q133* NM_001080438 NP_001073907 RecName: Full=Alpha 1,3-galactosyltransferase 2; Short=A3galt2; EC=2.4.1.87; AltName: Full=Isoglobotriaosylceramide synthase; AltName: Full=iGb3 synthase; Short=iGb3S; Flags: Precursor; NA ATCACGCTCTGGCCCGCCATG 0.697 NA 25 75 0 0 0.007291 0 0 CSMD2 114784 broad.mit.edu 37 1 34083116 34083116 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:34083116G>C uc001bxn.1 - 38 5838 c.5809C>G c.(5809-5811)CCG>GCG p.P1937A CSMD2_uc001bxm.1_Missense_Mutation_p.P1977A|CSMD2_uc001bxo.1_Missense_Mutation_p.P850A NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1937 Sushi 11.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GCATATCCCGGCTCACACTGG 0.587 NA 25 14 0 0 0.00333 0 0 CSMD2 114784 broad.mit.edu 37 1 34174850 34174850 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:34174850C>A uc001bxn.1 - 22 3324 c.3295G>T c.(3295-3297)GGG>TGG p.G1099W CSMD2_uc001bxm.1_Missense_Mutation_p.G1139W|CSMD2_uc001bxo.1_Missense_Mutation_p.G12W NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1099 Extracellular (Potential).|CUB 7. integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) ACTGAATTCCCACACTCAGCT 0.463 NA 10 28 0.000442599 0.000466224 0.006214 1 0 STK40 83931 broad.mit.edu 37 1 36809008 36809008 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:36809008G>C uc001cak.1 - 11 1453 c.1046C>G c.(1045-1047)CCT>CGT p.P349R STK40_uc001cal.1_Missense_Mutation_p.P354R|STK40_uc001cam.1_Missense_Mutation_p.P349R|STK40_uc009vva.1_Intron|STK40_uc001can.1_Missense_Mutation_p.P349R NM_032017 NP_114406 Q8N2I9 STK40_HUMAN serine/threonine kinase 40 349 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity ovary(1) 1 Myeloproliferative disorder(586;0.0393) ATCAATGTCAGGAACCACTTG 0.592 NA 20 8 0 0 0.001882 0 0 KIAA0754 643314 broad.mit.edu 37 1 39876984 39876984 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:39876984G>A uc009vvt.1 + 1 1809 c.1047G>A c.(1045-1047)CTG>CTA p.L349L MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron NM_015038 NP_055853 O94854 K0754_HUMAN hypothetical protein LOC643314 213 0 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGACTTTTCTGATGGCAGATG 0.468 NA OREG0013393 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 87 0 0 0.002299 0 0 TIE1 7075 broad.mit.edu 37 1 43783064 43783065 + Missense_Mutation DNP CA CA AT TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 CA CA - - CA CA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:43783064_43783065CA>AT uc001ciu.2 + 15 2683_2684 c.2604_2605CA>AT c.(2602-2607)GCCATC>GCATTC p.I869F TIE1_uc010oke.1_Missense_Mutation_p.I824F|TIE1_uc009vwq.2_Missense_Mutation_p.I825F|TIE1_uc010okg.1_Missense_Mutation_p.I514F NM_005424 NP_005415 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and 869 Cytoplasmic (Potential).|Protein kinase. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGAACGCAGCCATCAAAATGCT 0.589 NA 47 34 0 0 0.004672 0 0 CYP4B1 1580 broad.mit.edu 37 1 47279205 47279205 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:47279205G>A uc001cqm.3 + 5 631 c.547G>A c.(547-549)GAT>AAT p.D183N CYP4B1_uc009vyl.1_Missense_Mutation_p.D20N|CYP4B1_uc001cqn.3_Missense_Mutation_p.D183N|CYP4B1_uc009vym.2_Missense_Mutation_p.D168N|CYP4B1_uc010omk.1_Missense_Mutation_p.D20N|CYP4B1_uc010oml.1_Missense_Mutation_p.D20N NM_000779 NP_000770 P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, 183 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) CATCTTCTGCGATGTGGGTCA 0.582 NA 13 48 0 0 0.001855 0 0 FOXD2 2306 broad.mit.edu 37 1 47904182 47904182 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:47904182G>T uc001crm.2 + 1 2494 c.375G>T c.(373-375)CTG>CTT p.L125L NM_004474 NP_004465 O60548 FOXD2_HUMAN forkhead box D2 125 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 READ - Rectum adenocarcinoma(2;0.0908) GGAGCCCGCTGGTGAAGCCGC 0.358 NA 16 33 1.15088e-07 1.32252e-07 0.004007 1 0 DAB1 1600 broad.mit.edu 37 1 57538066 57538066 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:57538066C>A uc001cys.1 - 7 1002 c.328G>T c.(328-330)GTT>TTT p.V110F DAB1_uc001cyt.1_Missense_Mutation_p.V110F|DAB1_uc001cyq.1_Missense_Mutation_p.V110F|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Missense_Mutation_p.V110F|DAB1_uc009vzx.1_Missense_Mutation_p.V110F NM_021080 NP_066566 O75553 DAB1_HUMAN disabled homolog 1 110 PID. cell differentiation|nervous system development skin(2)|ovary(1) 3 ATTTCATGAACAGCATGATGA 0.408 NA 43 29 6.1244e-12 7.73651e-12 0.007835 1 0 KANK4 163782 broad.mit.edu 37 1 62739543 62739543 + Missense_Mutation SNP G G T rs143096938 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:62739543G>T uc001dah.3 - 3 1610 c.1233C>A c.(1231-1233)GAC>GAA p.D411E KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank NM_181712 NP_859063 Q5T7N3 KANK4_HUMAN ankyrin repeat domain 38 411 ovary(3)|skin(2)|lung(1) 6 TCACCATCACGTCCGTCTGGC 0.517 NA 108 82 2.21257e-79 4.16255e-79 0.00361 1 0 JAK1 3716 broad.mit.edu 37 1 65325846 65325846 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:65325846C>A uc001dbu.1 - 9 1525 c.1276G>T c.(1276-1278)GAC>TAC p.D426Y JAK1_uc009wam.1_Missense_Mutation_p.D414Y NM_002227 NP_002218 P23458 JAK1_HUMAN janus kinase 1 426 interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1) 61 BRCA - Breast invasive adenocarcinoma(111;0.0485) GGGGCCACGTCGGTGCAGAGG 0.542 NA Mis ALL 13 52 7.93312e-07 8.90979e-07 0.00245 1 0 WDR78 79819 broad.mit.edu 37 1 67288201 67288201 + Splice_Site SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:67288201C>G uc001dcx.2 - 16 2396 c.2340_splice c.e16-1 p.T780_splice WDR78_uc009waw.2_Splice_Site_p.T493_splice|WDR78_uc009wax.2_Splice_Site NM_024763 NP_079039 Q5VTH9 WDR78_HUMAN WD repeat domain 78 isoform 1 ovary(2) 2 AGGGTCCAAACTGTAATGAAA 0.294 NA 6 21 0 0 0.001168 0 0 NEGR1 257194 broad.mit.edu 37 1 72748003 72748003 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:72748003T>A uc001dfw.2 - 1 275 c.175A>T c.(175-177)AGG>TGG p.R59W NEGR1_uc010oqs.1_Missense_Mutation_p.R59W NM_173808 NP_776169 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 precursor 59 Ig-like C2-type 1. cell adhesion anchored to membrane|plasma membrane ovary(1) 1 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) TCTTCCTACCTAAGCACCGCC 0.532 NA 29 19 0 0 0.007291 0 0 C1orf173 127254 broad.mit.edu 37 1 75055736 75055736 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:75055736G>A uc001dgg.2 - 12 1974 c.1755C>T c.(1753-1755)TCC>TCT p.S585S uc001dgh.2_Intron|C1orf173_uc001dgi.3_Silent_p.S379S NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 585 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 GGTGACTTCTGGATGAGGTTG 0.393 NA 14 21 0 0 0.001855 0 0 C1orf173 127254 broad.mit.edu 37 1 75114965 75114965 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:75114965G>T uc001dgg.2 - 2 277 c.58C>A c.(58-60)CAC>AAC p.H20N NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 20 ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CCAGCCAGGTGTTTATCCATA 0.348 NA 47 43 6.3008e-33 1.07269e-32 0.00361 1 0 ACADM 34 broad.mit.edu 37 1 76199314 76199314 + Splice_Site SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:76199314G>T uc001dgw.3 + 5 817 c.387_splice c.e5+1 p.G129_splice ACADM_uc010orc.1_Intron|ACADM_uc010ord.1_Splice_Site_p.G43_splice|ACADM_uc009wbp.2_Splice_Site_p.G133_splice|ACADM_uc009wbr.2_Splice_Site_p.G162_splice|ACADM_uc010ore.1_Splice_Site_p.G93_splice|ACADM_uc010orf.1_Intron|ACADM_uc001dgx.3_Splice_Site_p.G43_splice|ACADM_uc010org.1_Intron NM_000016 NP_000007 P11310 ACADM_HUMAN medium-chain acyl-CoA dehydrogenase isoform a carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process mitochondrial matrix flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity breast(2)|ovary(1)|skin(1) 4 TTCTTTGGGGGTAAGTGACTT 0.358 NA 12 41 0.00010058 0.000107352 0.001368 1 0 ACADM 34 broad.mit.edu 37 1 76211578 76211578 + Silent SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:76211578A>T uc001dgw.3 + 8 1117 c.687A>T c.(685-687)CCA>CCT p.P229P ACADM_uc010ord.1_Silent_p.P143P|ACADM_uc009wbp.2_Silent_p.P233P|ACADM_uc009wbr.2_Silent_p.P262P|ACADM_uc010ore.1_Silent_p.P193P|ACADM_uc010orf.1_Silent_p.P40P|ACADM_uc001dgx.3_Silent_p.P143P|ACADM_uc010org.1_Silent_p.P99P|ACADM_uc009wbs.1_RNA NM_000016 NP_000007 P11310 ACADM_HUMAN medium-chain acyl-CoA dehydrogenase isoform a 229 carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process mitochondrial matrix flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity breast(2)|ovary(1)|skin(1) 4 CAGATACCCCAGGAATTCAGA 0.328 NA 50 31 0 0 0.00361 0 0 MSH4 4438 broad.mit.edu 37 1 76345744 76345744 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:76345744G>C uc001dhd.1 + 13 1728 c.1687G>C c.(1687-1689)GTG>CTG p.V563L NM_002440 NP_002431 O15457 MSH4_HUMAN mutS homolog 4 563 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding lung(3)|ovary(2) 5 GATTTCTAAAGTGAAAAATTC 0.279 NA MMR 14 9 0 0 0.001855 0 0 MSH4 4438 broad.mit.edu 37 1 76345766 76345766 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:76345766C>G uc001dhd.1 + 13 1750 c.1709C>G c.(1708-1710)ACA>AGA p.T570R NM_002440 NP_002431 O15457 MSH4_HUMAN mutS homolog 4 570 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding lung(3)|ovary(2) 5 TACAGCTTTACATCAGCAGAT 0.269 NA MMR 5 20 0 0 0.001168 0 0 MSH4 4438 broad.mit.edu 37 1 76347015 76347015 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:76347015G>T uc001dhd.1 + 14 1907 c.1866G>T c.(1864-1866)ATG>ATT p.M622I NM_002440 NP_002431 O15457 MSH4_HUMAN mutS homolog 4 622 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding lung(3)|ovary(2) 5 TGCTGGATATGCTACTGTCAT 0.348 NA MMR 26 29 1.74197e-06 1.94177e-06 0.00632 1 0 ASB17 127247 broad.mit.edu 37 1 76384776 76384776 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:76384776T>C uc001dhe.1 - 3 889 c.749A>G c.(748-750)TAC>TGC p.Y250C ASB17_uc001dhf.1_RNA NM_080868 NP_543144 Q8WXJ9 ASB17_HUMAN ankyrin repeat and SOCS box-containing 17 250 SOCS box. intracellular signal transduction ovary(1) 1 TGGATCTTTGTATCTTGTTGA 0.313 NA 7 27 0 0 0.001984 0 0 ST6GALNAC5 81849 broad.mit.edu 37 1 77509947 77509947 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:77509947A>T uc001dhi.2 + 3 495 c.320A>T c.(319-321)CAC>CTC p.H107L ST6GALNAC5_uc010ori.1_Intron|ST6GALNAC5_uc009wbw.2_RNA NM_030965 NP_112227 Q9BVH7 SIA7E_HUMAN sialyltransferase 7E 107 Lumenal (Potential). protein glycosylation integral to Golgi membrane sialyltransferase activity pancreas(1)|skin(1) 2 CATCTGCTGCACAGTCGGCAA 0.622 NA 16 50 0 0 0.003163 0 0 IFI44L 10964 broad.mit.edu 37 1 79107475 79107475 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:79107475C>G uc010oro.1 + 9 1519 c.1340C>G c.(1339-1341)GCG>GGG p.A447G IFI44L_uc010orp.1_Missense_Mutation_p.A184G|IFI44L_uc010orq.1_Missense_Mutation_p.A184G NM_006820 NP_006811 Q53G44 IF44L_HUMAN interferon-induced protein 44-like 447 cytoplasm 0 ATTGAGAGAGCGTTACAGCCC 0.468 NA 79 86 0 0 0.00361 0 0 LPHN2 23266 broad.mit.edu 37 1 82409307 82409307 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:82409307G>T uc001dit.3 + 6 1233 c.1052G>T c.(1051-1053)GGA>GTA p.G351V LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.G351V|LPHN2_uc001div.2_Missense_Mutation_p.G351V|LPHN2_uc009wcd.2_Missense_Mutation_p.G351V NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 351 Extracellular (Potential).|Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) TTAAACCGAGGAGAATATGTA 0.388 NA 27 79 2.12542e-12 2.70966e-12 0.00632 1 0 LPHN2 23266 broad.mit.edu 37 1 82450266 82450266 + Splice_Site SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:82450266G>T uc001dit.3 + 19 3413 c.3232_splice c.e19-1 p.V1078_splice LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Splice_Site_p.V1078_splice|LPHN2_uc001div.2_Splice_Site_p.V1078_splice|LPHN2_uc009wcd.2_Splice_Site_p.V1078_splice|LPHN2_uc001diw.2_Splice_Site_p.V662_splice NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) ATTCAATGCAGGTACGAAAAG 0.418 NA 15 36 8.60227e-14 1.12183e-13 0.004007 1 0 SYDE2 84144 broad.mit.edu 37 1 85655845 85655845 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:85655845C>A uc009wcm.2 - 2 1385 c.1336G>T c.(1336-1338)GCC>TCC p.A446S SYDE2_uc001dku.3_Missense_Mutation_p.A446S NM_032184 NP_115560 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 446 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity ovary(1)|central_nervous_system(1) 2 all cancers(265;0.0126)|Epithelial(280;0.0336) GTGGAATGGGCAGGATGTATA 0.453 NA 86 63 5.52753e-52 1.01138e-51 0.00361 1 0 CLCA4 22802 broad.mit.edu 37 1 87012922 87012922 + Silent SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:87012922T>C uc009wcs.2 + 1 164 c.120T>C c.(118-120)CCT>CCC p.P40P CLCA4_uc009wct.2_5'UTR|CLCA4_uc009wcu.2_5'UTR NM_012128 NP_036260 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 40 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity ovary(2) 2 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) TTATAGATCCTAGTGTGCCAG 0.284 NA 23 28 0 0 0.00278 0 0 GBP2 2634 broad.mit.edu 37 1 89575510 89575510 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:89575510C>A uc001dmz.1 - 10 1780 c.1509G>T c.(1507-1509)ATG>ATT p.M503I GBP2_uc001dmy.1_RNA NM_004120 NP_004111 P32456 GBP2_HUMAN guanylate binding protein 2, 503 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway plasma membrane GTP binding|GTPase activity ovary(1) 1 Lung NSC(277;0.0908) all cancers(265;0.0151)|Epithelial(280;0.0284) TTTCCTCCAACATTTTCTTTG 0.373 NA 7 35 8.12818e-05 8.70909e-05 0.001984 1 0 GBP4 115361 broad.mit.edu 37 1 89654327 89654327 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:89654327A>G uc001dnb.2 - 8 1464 c.1348T>C c.(1348-1350)TAC>CAC p.Y450H NM_052941 NP_443173 Q96PP9 GBP4_HUMAN guanylate binding protein 4 450 cytoplasm GTP binding|GTPase activity 0 all cancers(265;0.00723)|Epithelial(280;0.0291) TCTTCTAAGTAGAGATTGTGT 0.448 NA 143 336 0 0 0.00361 0 0 BARHL2 343472 broad.mit.edu 37 1 91182132 91182132 + Nonsense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:91182132G>T uc001dns.2 - 1 663 c.621C>A c.(619-621)TGC>TGA p.C207* NM_020063 NP_064447 Q9NY43 BARH2_HUMAN BarH-like homeobox 2 207 nucleus sequence-specific DNA binding ovary(1) 1 all_lung(203;0.0263)|Lung SC(238;0.128) all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211) ACTCACCGTGGCATTTGATGT 0.602 GBM(199;3561 4100 22440) NA 11 45 6.40141e-05 6.88944e-05 0.000978 1 0 HFM1 164045 broad.mit.edu 37 1 91866637 91866637 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:91866637C>G uc001doa.3 - 2 103 c.3G>C c.(1-3)ATG>ATC p.M1I HFM1_uc010osu.1_5'UTR|HFM1_uc010osv.1_5'UTR|HFM1_uc001doc.1_Missense_Mutation_p.M1I NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein 1 ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) TTGATTTCAGCATTGTTGAAA 0.244 NA 6 15 0 0 0.001168 0 0 BRDT 676 broad.mit.edu 37 1 92470805 92470805 + Missense_Mutation SNP A A C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:92470805A>C uc001dok.3 + 18 3073 c.2724A>C c.(2722-2724)AAA>AAC p.K908N BRDT_uc001dol.3_Missense_Mutation_p.K908N|BRDT_uc010osz.1_Missense_Mutation_p.K912N|BRDT_uc009wdf.2_Missense_Mutation_p.K835N|BRDT_uc010ota.1_Missense_Mutation_p.K862N|BRDT_uc010otb.1_Missense_Mutation_p.K862N|BRDT_uc001dom.3_Missense_Mutation_p.K908N NM_207189 NP_997072 Q58F21 BRDT_HUMAN testis-specific bromodomain protein 908 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity stomach(2)|ovary(1)|lung(1) 4 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) GGCTTCTCAAAGACCGTGATT 0.363 NA 60 48 0 0 0.00361 0 0 EVI5 7813 broad.mit.edu 37 1 93201972 93201972 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:93201972T>A uc001dox.2 - 2 274 c.264A>T c.(262-264)AAA>AAT p.K88N EVI5_uc010otf.1_Missense_Mutation_p.K88N NM_005665 NP_005656 O60447 EVI5_HUMAN ecotropic viral integration site 5 88 Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Ser-rich. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle protein binding|Rab GTPase activator activity ovary(1)|breast(1) 2 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) GTTCTTCCAGTTTAGCCAGGA 0.398 NA 28 21 0 0 0.00632 0 0 EVI5 7813 broad.mit.edu 37 1 93257926 93257926 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:93257926G>T uc001dox.2 - 1 36 c.26C>A c.(25-27)GCC>GAC p.A9D EVI5_uc010otf.1_Missense_Mutation_p.A9D NM_005665 NP_005656 O60447 EVI5_HUMAN ecotropic viral integration site 5 9 Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle protein binding|Rab GTPase activator activity ovary(1)|breast(1) 2 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) GTTTCTAAAGGCAGCAGTCAT 0.333 NA 11 28 0.00136819 0.00142493 0.001368 1 0 LPPR4 9890 broad.mit.edu 37 1 99771894 99771894 + Silent SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:99771894T>A uc001dse.2 + 7 1726 c.1620T>A c.(1618-1620)ACT>ACA p.T540T LPPR4_uc010oue.1_Silent_p.T482T NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 540 phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) CTGAGGAGACTCAGGAAAACA 0.557 NA 90 62 0 0 0.00361 0 0 AMY2A 279 broad.mit.edu 37 1 104160642 104160642 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:104160642C>G uc001dut.2 + 2 299 c.235C>G c.(235-237)CCA>GCA p.P79A AMY2A_uc010ouq.1_Missense_Mutation_p.P79A NM_000699 NP_000690 P04746 AMYP_HUMAN pancreatic amylase alpha 2A precursor 79 carbohydrate catabolic process|polysaccharide digestion extracellular space alpha-amylase activity|calcium ion binding|chloride ion binding ovary(1)|skin(1) 2 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111) Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085) AAGATACCAACCAGTTAGCTA 0.353 NA 30 70 0 0 0.009535 0 0 NTNG1 22854 broad.mit.edu 37 1 107691462 107691462 + Splice_Site SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:107691462G>C uc001dvh.3 + 2 964 c.246_splice c.e2+1 p.M82_splice NTNG1_uc001dvf.3_Splice_Site_p.M82_splice|NTNG1_uc010out.1_Splice_Site_p.M82_splice|NTNG1_uc001dvc.3_Splice_Site_p.M82_splice|NTNG1_uc001dvd.1_Splice_Site_p.M82_splice NM_001113226 NP_001106697 Q9Y2I2 NTNG1_HUMAN netrin G1 isoform 1 axonogenesis anchored to plasma membrane protein binding large_intestine(2)|ovary(2)|skin(2) 6 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) CTGTGCAATGGTGAGGTAACC 0.423 NA 18 40 0 0 0.006122 0 0 NTNG1 22854 broad.mit.edu 37 1 107937821 107937821 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:107937821C>A uc001dvh.3 + 4 1651 c.933C>A c.(931-933)AGC>AGA p.S311R NTNG1_uc001dvf.3_Missense_Mutation_p.S311R|NTNG1_uc010out.1_Missense_Mutation_p.S311R|NTNG1_uc001dvc.3_Missense_Mutation_p.S311R|NTNG1_uc001dvi.2_5'UTR|NTNG1_uc001dve.2_RNA|NTNG1_uc009wek.2_RNA|NTNG1_uc001dvg.2_RNA|NTNG1_uc009wem.2_5'UTR|NTNG1_uc001dvd.1_Missense_Mutation_p.S311R NM_001113226 NP_001106697 Q9Y2I2 NTNG1_HUMAN netrin G1 isoform 1 311 Laminin EGF-like 1. axonogenesis anchored to plasma membrane protein binding large_intestine(2)|ovary(2)|skin(2) 6 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) ATGACAACAGCAAATTGACAT 0.478 NA 44 70 1.61863e-15 2.19525e-15 0.00361 1 0 VAV3 10451 broad.mit.edu 37 1 108138931 108138931 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:108138931G>T uc001dvk.1 - 25 2307 c.2253C>A c.(2251-2253)CTC>CTA p.L751L VAV3_uc010ouu.1_Silent_p.L155L|VAV3_uc001dvj.1_Silent_p.L191L|VAV3_uc010ouv.1_Silent_p.L155L|VAV3_uc010ouw.1_Silent_p.L751L NM_006113 NP_006104 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor isoform 751 SH2. angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(5)|lung(2)|breast(2) 9 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) ACCCTTCCTTGAGAGAATGAT 0.408 NA 22 42 2.37509e-13 3.07458e-13 0.010504 1 0 VAV3 10451 broad.mit.edu 37 1 108313319 108313319 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:108313319C>G uc001dvk.1 - 6 641 c.587G>C c.(586-588)TGT>TCT p.C196S VAV3_uc010ouw.1_Missense_Mutation_p.C196S|VAV3_uc001dvl.1_Missense_Mutation_p.C20S|VAV3_uc010oux.1_Missense_Mutation_p.C196S NM_006113 NP_006104 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor isoform 196 DH. angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(5)|lung(2)|breast(2) 9 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) TTCTGCTAGACAACAACTTCG 0.299 NA 15 36 0 0 0.004007 0 0 CELSR2 1952 broad.mit.edu 37 1 109792961 109792961 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:109792961A>G uc001dxa.3 + 1 321 c.260A>G c.(259-261)CAC>CGC p.H87R NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 87 Extracellular (Potential). dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GTACCCCACCACGATGGCCTG 0.632 NSCLC(158;1285 2011 34800 34852 42084) NA 40 48 0 0 0.004878 0 0 UBL4B 164153 broad.mit.edu 37 1 110655547 110655547 + Nonsense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:110655547G>T uc001dzc.2 + 1 486 c.391G>T c.(391-393)GAG>TAG p.E131* NM_203412 NP_981957 Q8N7F7 UBL4B_HUMAN ubiquitin-like 4B 131 cytoplasm ovary(1) 1 all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134) GGAGCACCTGGAGCAGCTGGC 0.612 NA 6 9 0.00116845 0.00121886 0.001168 1 0 KCND3 3752 broad.mit.edu 37 1 112524472 112524472 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:112524472G>A uc001ebu.1 - 2 1357 c.877C>T c.(877-879)CGC>TGC p.R293C KCND3_uc001ebv.1_Missense_Mutation_p.R293C NM_004980 NP_004971 Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related 293 Helical; Voltage-sensor; Name=Segment S4; (Potential). sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding ovary(2)|large_intestine(1) 3 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) CTGAAGACGCGGAAGACCCGG 0.587 NA 20 29 0 0 0.008871 0 0 WNT2B 7482 broad.mit.edu 37 1 113058873 113058873 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:113058873C>A uc001ecb.2 + 3 1030 c.515C>A c.(514-516)ACC>AAC p.T172N WNT2B_uc001eca.2_Missense_Mutation_p.T153N|WNT2B_uc009wgg.2_Missense_Mutation_p.T80N NM_024494 NP_078613 Q93097 WNT2B_HUMAN wingless-type MMTV integration site family, 172 chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding|signal transducer activity ovary(2)|breast(2)|skin(1) 5 Lung SC(450;0.246) all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GACCCCTACACCCGTGGCCGA 0.577 NA 37 62 1.59361e-14 2.10522e-14 0.006999 1 0 PTPN22 26191 broad.mit.edu 37 1 114377049 114377049 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:114377049G>A uc001eds.2 - 15 2037 c.1907C>T c.(1906-1908)CCA>CTA p.P636L PTPN22_uc009wgq.2_Missense_Mutation_p.P581L|PTPN22_uc010owo.1_Missense_Mutation_p.P392L|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.P636L|PTPN22_uc009wgs.2_Missense_Mutation_p.P509L|PTPN22_uc001edu.2_Missense_Mutation_p.P636L NM_015967 NP_057051 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 636 negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding kidney(2)|lung(1)|skin(1) 4 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GGGAACATTTGGTGAGAATTC 0.358 NA 30 48 0 0 0.002836 0 0 AP4B1 10717 broad.mit.edu 37 1 114442706 114442706 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:114442706T>A uc001eeb.2 - 5 1077 c.934A>T c.(934-936)AGC>TGC p.S312C uc001edv.1_RNA|AP4B1_uc001eec.2_Missense_Mutation_p.S144C|AP4B1_uc001eed.2_Missense_Mutation_p.S312C|AP4B1_uc010owp.1_Missense_Mutation_p.S213C|AP4B1_uc001eea.1_Missense_Mutation_p.S106C|AP4B1_uc001eee.1_5'Flank|AP4B1_uc010owq.1_Missense_Mutation_p.S219C NM_006594 NP_006585 Q9Y6B7 AP4B1_HUMAN adaptor-related protein complex 4, beta 1 312 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|soluble fraction|trans-Golgi network protein binding|protein transporter activity ovary(3)|central_nervous_system(1) 4 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TAGTGGCTGCTAAAGTGACCT 0.468 NA 64 78 0 0 0.00361 0 0 HIPK1 204851 broad.mit.edu 37 1 114499307 114499307 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:114499307G>T uc001eem.2 + 6 1627 c.1466G>T c.(1465-1467)AGA>ATA p.R489I HIPK1_uc001eel.2_Missense_Mutation_p.R489I|HIPK1_uc001een.2_Missense_Mutation_p.R489I|HIPK1_uc001eeo.2_Missense_Mutation_p.R115I|HIPK1_uc001eep.2_Missense_Mutation_p.R95I NM_198268 NP_938009 Q86Z02 HIPK1_HUMAN homeodomain-interacting protein kinase 1 isoform 489 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity ovary(4) 4 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GCAGACCGAAGAGAATACATT 0.378 NA 14 16 0.00244969 0.00253897 0.00245 1 0 IGSF3 3321 broad.mit.edu 37 1 117146412 117146412 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:117146412C>G uc001egr.1 - 6 2163 c.1458G>C c.(1456-1458)ATG>ATC p.M486I IGSF3_uc001egq.1_Missense_Mutation_p.M506I|IGSF3_uc001egs.1_Missense_Mutation_p.M159I NM_001007237 NP_001007238 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 isoform 2 486 Ig-like C2-type 4.|Extracellular (Potential). integral to membrane ovary(2) 2 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) GCACCTGCTCCATCTGGACGC 0.617 NA 22 26 0 0 0.002299 0 0 IGSF3 3321 broad.mit.edu 37 1 117158852 117158852 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:117158852C>G uc001egr.1 - 3 976 c.271G>C c.(271-273)GGG>CGG p.G91R IGSF3_uc001egq.1_Missense_Mutation_p.G91R NM_001007237 NP_001007238 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 isoform 2 91 Ig-like C2-type 1.|Extracellular (Potential). integral to membrane ovary(2) 2 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) AAGATCTTCCCTCCGCGGACG 0.567 NA 10 19 0 0 0.006214 0 0 TBX15 6913 broad.mit.edu 37 1 119441667 119441667 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:119441667G>T uc001ehl.1 - 7 1005 c.690C>A c.(688-690)ACC>ACA p.T230T TBX15_uc009whj.1_Silent_p.T21T NM_152380 NP_689593 Q96SF7 TBX15_HUMAN T-box 15 336 nucleus DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|pancreas(1) 2 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) GCTTCTGCATGGTGGTGAAGT 0.527 NA 18 33 2.5808e-16 3.5525e-16 0.006122 1 0 NBPF7 343505 broad.mit.edu 37 1 120384152 120384152 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:120384152C>T uc010oxk.1 - 3 1031 c.410G>A c.(409-411)AGA>AAA p.R137K NM_001047980 NP_001041445 P0C2Y1 NBPF7_HUMAN hypothetical protein LOC343505 137 Potential. cytoplasm ovary(1)|skin(1) 2 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347) Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544) GGAGGCATCTCTCCCTTCCCG 0.498 NA 66 128 0 0 0.00361 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144882701 144882701 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:144882701C>A uc001elw.3 - 24 3609 c.3318G>T c.(3316-3318)CAG>CAT p.Q1106H NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Missense_Mutation_p.Q113H NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1106 Potential. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TCAGTTTTCCCTGGAGCTTTC 0.478 NA T PDGFRB MPD 38 222 2.52637e-11 3.16042e-11 0.005524 1 0 NOTCH2NL 388677 broad.mit.edu 37 1 145273203 145273203 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:145273203G>T uc001emn.3 + 3 427 c.57G>T c.(55-57)TTG>TTT p.L19F NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Missense_Mutation_p.L19F|NOTCH2NL_uc001emo.2_Missense_Mutation_p.L19F|NOTCH2NL_uc010oyh.1_RNA NM_203458 NP_982283 Q7Z3S9 NT2NL_HUMAN Notch homolog 2 N-terminal like protein 19 EGF-like 1. L -> S (in Ref. 1; BAC11381). cell differentiation|multicellular organismal development|Notch signaling pathway cytoplasm|extracellular region calcium ion binding ovary(1) 1 AAGGCTTCTTGGGGGAATATT 0.473 NA 14 79 6.49762e-13 8.33315e-13 0.006122 1 0 NOTCH2NL 388677 broad.mit.edu 37 1 145281550 145281550 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:145281550C>T uc001emn.3 + 4 850 c.480C>T c.(478-480)CTC>CTT p.L160L NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Silent_p.L160L|NOTCH2NL_uc001emo.2_Silent_p.L160L|NOTCH2NL_uc010oyh.1_RNA NM_203458 NP_982283 Q7Z3S9 NT2NL_HUMAN Notch homolog 2 N-terminal like protein 160 EGF-like 5; calcium-binding (Potential). cell differentiation|multicellular organismal development|Notch signaling pathway cytoplasm|extracellular region calcium ion binding ovary(1) 1 GCACCTGCCTCAACCTGCCTG 0.562 NA 15 185 0 0 0.004007 0 0 NBPF10 100132406 broad.mit.edu 37 1 145299852 145299852 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:145299852G>A uc001end.3 + 6 936 c.901G>A c.(901-903)GAG>AAG p.E301K NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Missense_Mutation_p.E301K|NBPF10_uc010oyi.1_5'Flank|NBPF10_uc001emq.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 301 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) CCAGCTGGCAGAGAAGAAACA 0.463 NA 18 621 0 0 0.00361 0 0 GJA8 2703 broad.mit.edu 37 1 147381061 147381061 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:147381061G>T uc001epu.1 + 2 1042 c.979G>T c.(979-981)GGG>TGG p.G327W NM_005267 NP_005258 P48165 CXA8_HUMAN connexin 50 327 Cytoplasmic (Potential). cell communication|visual perception connexon complex|integral to plasma membrane channel activity ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.0276) CGCTCAGGTGGGGGCACAAGA 0.622 Melanoma(76;1255 1795 8195 52096) NA 8 13 0.00307968 0.00318168 0.00308 1 0 LOC200030 200030 broad.mit.edu 37 1 148344650 148344650 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:148344650C>T uc001eqf.2 - 2 303 c.268G>A c.(268-270)GAG>AAG p.E90K LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqg.2_Intron|NBPF14_uc009wkf.1_Intron|uc001erd.3_Missense_Mutation_p.E90K|uc001erc.3_Intron|uc010paj.1_Intron|uc010pau.1_5'Flank|uc010pav.1_Missense_Mutation_p.E90K|uc010paw.1_Intron NM_017940 NP_060410 Q86T75 NBPFB_HUMAN hypothetical protein LOC55672 90 Potential. cytoplasm 0 CTGAGCTCCTCAGCTTGCTTG 0.517 NA 99 563 0 0 0.00361 0 0 SV2A 9900 broad.mit.edu 37 1 149878336 149878336 + Missense_Mutation SNP G G T rs149927876 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:149878336G>T uc001etg.2 - 11 2242 c.1751C>A c.(1750-1752)CCG>CAG p.P584Q SV2A_uc009wlk.2_Missense_Mutation_p.P36Q|SV2A_uc001eth.2_Missense_Mutation_p.P584Q NM_014849 NP_055664 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2 584 Extracellular (Potential). neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(6)|pancreas(1) 7 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) CACGTCTAGCGGGCAGCCCTC 0.542 NA 21 26 5.26018e-13 6.76409e-13 0.001882 1 0 ECM1 1893 broad.mit.edu 37 1 150483557 150483557 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:150483557G>A uc001eus.2 + 6 790 c.591G>A c.(589-591)CAG>CAA p.Q197Q ECM1_uc010pce.1_Silent_p.Q126Q|ECM1_uc010pcf.1_Silent_p.Q119Q|ECM1_uc001eut.2_Silent_p.Q197Q|ECM1_uc001euu.2_Silent_p.Q226Q|ECM1_uc001euv.2_Silent_p.Q224Q|ECM1_uc009wlu.2_5'UTR NM_004425 NP_004416 Q16610 ECM1_HUMAN extracellular matrix protein 1 isoform 1 197 2 X approximate repeats.|1. angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade proteinaceous extracellular matrix laminin binding|protease binding|protein C-terminus binding|signal transducer activity ovary(2)|central_nervous_system(1) 3 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) ACCTACCACAGTCCAGCTACT 0.572 Melanoma(156;1696 2560 11093 19685) NA 88 102 0 0 0.00361 0 0 HRNR 388697 broad.mit.edu 37 1 152191134 152191134 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:152191134G>C uc001ezt.1 - 3 3047 c.2971C>G c.(2971-2973)CGT>GGT p.R991G NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 991 11. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AAAGACTGACGGGAGCCAGAC 0.582 NA 111 153 0 0 0.00361 0 0 HRNR 388697 broad.mit.edu 37 1 152191741 152191741 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:152191741G>A uc001ezt.1 - 3 2440 c.2364C>T c.(2362-2364)TCC>TCT p.S788S NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 788 8. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CGTGGCTGGAGGAGTGCCCTG 0.602 NA 36 37 0 0 0.003755 0 0 HRNR 388697 broad.mit.edu 37 1 152192435 152192435 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:152192435C>A uc001ezt.1 - 3 1746 c.1670G>T c.(1669-1671)AGC>ATC p.S557I NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 557 5. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGGGCCATAGCTGGAAGACTG 0.587 NA 83 134 3.76054e-38 6.5699e-38 0.00361 1 0 FLG 2312 broad.mit.edu 37 1 152277418 152277418 + Missense_Mutation SNP T T G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:152277418T>G uc001ezu.1 - 3 9980 c.9944A>C c.(9943-9945)CAC>CCC p.H3315P NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3315 Filaggrin 20.|Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AATGCCTGAGTGTCTGGAGCT 0.557 NA Ichthyosis 197 364 0 0 0.00361 0 0 FLG 2312 broad.mit.edu 37 1 152281867 152281867 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:152281867G>C uc001ezu.1 - 3 5531 c.5495C>G c.(5494-5496)TCG>TGG p.S1832W NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1832 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACTATCTACCGATTGCTCATA 0.577 NA Ichthyosis 173 259 0 0 0.00361 0 0 FLG2 388698 broad.mit.edu 37 1 152323648 152323648 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:152323648C>A uc001ezw.3 - 3 6687 c.6614G>T c.(6613-6615)GGA>GTA p.G2205V uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 2205 calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATGTCGAGATCCGGCTTGGCT 0.507 NA 116 207 2.08041e-53 3.821e-53 0.00361 1 0 FLG2 388698 broad.mit.edu 37 1 152328422 152328422 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:152328422C>A uc001ezw.3 - 3 1913 c.1840G>T c.(1840-1842)GGT>TGT p.G614C uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 614 Ser-rich. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTAGACTGACCTGATCTAGAC 0.512 NA 149 213 2.0701e-58 3.82752e-58 0.00361 1 0 KPRP 448834 broad.mit.edu 37 1 152732973 152732973 + Silent SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:152732973C>G uc001fal.1 + 2 967 c.909C>G c.(907-909)CCC>CCG p.P303P NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 303 Pro-rich. cytoplasm ovary(4)|pancreas(1) 5 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCTCTGAACCCATATATAACA 0.597 NA 15 46 0 0 0.010504 0 0 KPRP 448834 broad.mit.edu 37 1 152733137 152733137 + Missense_Mutation SNP G G C rs150376386 by1000genomes TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:152733137G>C uc001fal.1 + 2 1131 c.1073G>C c.(1072-1074)GGC>GCC p.G358A NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 358 Pro-rich. cytoplasm ovary(4)|pancreas(1) 5 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CAGAGCTGTGGCCCGCAGCCC 0.647 NA 27 36 0 0 0.004656 0 0 SPRR2F 6705 broad.mit.edu 37 1 153085207 153085207 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:153085207C>G uc001fbi.2 - 2 62 c.3G>C c.(1-3)ATG>ATC p.M1I SPRR2D_uc009wnz.2_Intron|SPRR2A_uc001fbf.2_Intron|SPRR2A_uc009woa.2_Intron NM_001014450 NP_001014450 Q96RM1 SPR2F_HUMAN small proline-rich protein 2F 1 keratinization cornified envelope|cytoplasm 0 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GTTGATAAGACATCCTGCTGG 0.542 NA 33 51 0 0 0.003271 0 0 SPRR2G 6706 broad.mit.edu 37 1 153122509 153122509 + Silent SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:153122509T>A uc009wod.1 - 2 199 c.78A>T c.(76-78)CCA>CCT p.P26P NM_001014291 NP_001014313 Q9BYE4 SPR2G_HUMAN small proline-rich protein 2G 26 1.|3 X 9 AA approximate tandem repeats. keratinization cornified envelope|cytoplasm 0 all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GGGGTGGACATGGCTCTGGGC 0.597 NA 30 51 0 0 0.002836 0 0 SPRR2G 6706 broad.mit.edu 37 1 153122550 153122550 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:153122550G>T uc009wod.1 - 2 158 c.37C>A c.(37-39)CAG>AAG p.Q13K NM_001014291 NP_001014313 Q9BYE4 SPR2G_HUMAN small proline-rich protein 2G 13 keratinization cornified envelope|cytoplasm 0 all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GGAGGTGGCTGGCAGGGCTGC 0.562 NA 26 47 3.99451e-17 5.57789e-17 0.009535 1 0 PGLYRP4 57115 broad.mit.edu 37 1 153309735 153309735 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:153309735C>G uc001fbo.2 - 8 930 c.865G>C c.(865-867)GGC>CGC p.G289R PGLYRP4_uc001fbp.2_Missense_Mutation_p.G285R NM_020393 NP_065126 Q96LB8 PGRP4_HUMAN peptidoglycan recognition protein-I-beta 289 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding ovary(3)|skin(1) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) ACATTCCAGCCCACCCCTTCA 0.532 NA 11 25 0 0 0.008291 0 0 C1orf77 26097 broad.mit.edu 37 1 153617542 153617542 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:153617542C>T uc001fcm.1 + 6 856 c.544C>T c.(544-546)CGG>TGG p.R182W C1orf77_uc001fcn.1_Missense_Mutation_p.R183W|C1orf77_uc001fco.1_Missense_Mutation_p.R157W|C1orf77_uc001fcp.2_RNA NM_015607 NP_056422 Q9Y3Y2 CHTOP_HUMAN small protein rich in arginine and glycine 182 Arg/Gly-rich.|Interaction with PRMT1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus protein binding|RNA binding 0 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) TGGGCCAGGTCGGGGTATGAT 0.542 NA 19 30 0 0 0.008871 0 0 PBXIP1 57326 broad.mit.edu 37 1 154920025 154920025 + Splice_Site SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:154920025C>A uc001ffr.2 - 9 798 c.739_splice c.e9-1 p.D247_splice PBXIP1_uc001ffs.2_Splice_Site_p.D218_splice|PBXIP1_uc010pep.1_Splice_Site_p.D92_splice NM_020524 NP_065385 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity large_intestine(1) 1 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) TTAGCCCATCCTGAGGGCAGA 0.602 NA 32 50 2.85442e-18 4.08015e-18 0.002096 1 0 ASH1L 55870 broad.mit.edu 37 1 155448036 155448036 + Missense_Mutation SNP T T G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:155448036T>G uc009wqq.2 - 3 5105 c.4625A>C c.(4624-4626)CAT>CCT p.H1542P ASH1L_uc001fkt.2_Missense_Mutation_p.H1542P|ASH1L_uc009wqr.1_Missense_Mutation_p.H1542P NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 1542 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) AGGAGAGAGATGAGGGCAGGA 0.458 NA 34 59 0 0 0.005524 0 0 SYT11 23208 broad.mit.edu 37 1 155838079 155838079 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:155838079G>T uc001fmg.2 + 2 621 c.358G>T c.(358-360)GAC>TAC p.D120Y SYT11_uc010pgq.1_Intron NM_152280 NP_689493 Q9BT88 SYT11_HUMAN synaptotagmin XI 120 Cytoplasmic (Potential). cell junction|synaptic vesicle membrane protein binding|transporter activity ovary(1)|skin(1) 2 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) ATCTTGTATAGACCAATTACC 0.537 NA 44 66 5.20837e-25 8.25655e-25 0.00874 1 0 SLC25A44 9673 broad.mit.edu 37 1 156169978 156169978 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:156169978G>T uc001fnp.2 + 2 662 c.340G>T c.(340-342)GTG>TTG p.V114L SLC25A44_uc010phc.1_Intron|SLC25A44_uc009wrr.2_Missense_Mutation_p.V114L|SLC25A44_uc010phd.1_Intron|SLC25A44_uc010phe.1_Intron NM_014655 NP_055470 Q96H78 S2544_HUMAN solute carrier family 25, member 44 114 Solcar 2.|Helical; Name=3; (Potential). transmembrane transport integral to membrane|mitochondrial inner membrane binding ovary(1) 1 Hepatocellular(266;0.158) CAAATCACTGGTGGCTGGTGG 0.527 NA 24 24 2.44723e-14 3.22188e-14 0.004656 1 0 SH2D2A 9047 broad.mit.edu 37 1 156779009 156779009 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:156779009C>A uc001fqd.2 - 7 1128 c.988G>T c.(988-990)GTC>TTC p.V330F SH2D2A_uc001fqc.1_Missense_Mutation_p.V302F|SH2D2A_uc009wsh.2_Missense_Mutation_p.V340F|SH2D2A_uc001fqe.2_Missense_Mutation_p.V312F|SH2D2A_uc010phs.1_Missense_Mutation_p.V330F NM_003975 NP_003966 Q9NP31 SH22A_HUMAN SH2 domain protein 2A isoform 2 330 Pro-rich. angiogenesis|cell differentiation|signal transduction cytoplasm|soluble fraction SH3 domain binding|SH3/SH2 adaptor activity 0 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCTCCTGGGACAGGCCTGGAC 0.587 NA 60 115 2.17656e-39 3.84075e-39 0.00361 1 0 FCRL1 115350 broad.mit.edu 37 1 157772359 157772359 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:157772359C>A uc001frg.2 - 4 528 c.415G>T c.(415-417)GGC>TGC p.G139C FCRL1_uc001frf.2_5'Flank|FCRL1_uc001frh.2_Missense_Mutation_p.G139C|FCRL1_uc001fri.2_Missense_Mutation_p.G139C|FCRL1_uc001frj.2_Intron NM_052938 NP_443170 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 isoform 1 precursor 139 Ig-like C2-type 2.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity skin(4)|ovary(3) 7 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TCTCCTGTGCCCATAGCAACT 0.542 GBM(54;482 1003 11223 30131 35730) NA 18 26 2.48551e-13 3.21321e-13 0.00499 1 0 FCRL1 115350 broad.mit.edu 37 1 157772447 157772447 + Silent SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:157772447A>G uc001frg.2 - 4 440 c.327T>C c.(325-327)CCT>CCC p.P109P FCRL1_uc001frf.2_5'Flank|FCRL1_uc001frh.2_Silent_p.P109P|FCRL1_uc001fri.2_Silent_p.P109P|FCRL1_uc001frj.2_RNA NM_052938 NP_443170 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 isoform 1 precursor 109 Ig-like C2-type 2.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity skin(4)|ovary(3) 7 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CATCAGCGACAGGGACCCCTG 0.537 GBM(54;482 1003 11223 30131 35730) NA 5 9 0 0 0.001168 0 0 CD1C 911 broad.mit.edu 37 1 158261039 158261039 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:158261039C>G uc001fru.2 + 2 469 c.177C>G c.(175-177)GAC>GAG p.D59E CD1C_uc001frv.2_5'Flank NM_001765 NP_001756 P29017 CD1C_HUMAN CD1C antigen precursor 59 Extracellular (Potential). antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding ovary(2)|skin(1)|pancreas(1) 4 all_hematologic(112;0.0378) ATGGCTGGGACAGTGAATCAG 0.478 NA 20 37 0 0 0.008871 0 0 CD1C 911 broad.mit.edu 37 1 158262139 158262139 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:158262139G>T uc001fru.2 + 3 886 c.594G>T c.(592-594)ATG>ATT p.M198I CD1C_uc001frv.2_Missense_Mutation_p.M1I NM_001765 NP_001756 P29017 CD1C_HUMAN CD1C antigen precursor 198 Extracellular (Potential). antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding p.M198I(1) ovary(2)|skin(1)|pancreas(1) 4 all_hematologic(112;0.0378) CAGGGAAGATGTATGTACACA 0.453 NA 85 154 6.31949e-53 1.15957e-52 0.00361 1 0 CD1E 913 broad.mit.edu 37 1 158324271 158324272 + Missense_Mutation DNP GG GG TT TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:158324271_158324272GG>TT uc001fse.2 + 2 402_403 c.163_164GG>TT c.(163-165)GGC>TTC p.G55F CD1E_uc010pid.1_Missense_Mutation_p.G53F|CD1E_uc010pie.1_Intron|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Missense_Mutation_p.G55F|CD1E_uc001fsk.2_Missense_Mutation_p.G55F|CD1E_uc001fsj.2_Missense_Mutation_p.G55F|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Missense_Mutation_p.G55F|CD1E_uc001fry.2_Missense_Mutation_p.G55F|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Missense_Mutation_p.G55F|CD1E_uc009wsv.2_Intron|CD1E_uc001frz.2_Missense_Mutation_p.G55F|CD1E_uc009wsw.2_5'Flank NM_030893 NP_112155 P15812 CD1E_HUMAN CD1E antigen isoform a precursor 55 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen skin(3) 3 all_hematologic(112;0.0378) ACACAGTGAGGGCTCAGGATGG 0.569 NA 29 35 0 0 0.004672 0 0 SPTA1 6708 broad.mit.edu 37 1 158609374 158609374 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:158609374C>G uc001fst.1 - 35 5177 c.4978G>C c.(4978-4980)GAG>CAG p.E1660Q NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1660 Spectrin 16. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CTACTTACCTCTCGAGCCAAC 0.483 NA 34 55 0 0 0.004289 0 0 MNDA 4332 broad.mit.edu 37 1 158815556 158815556 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:158815556A>T uc001fsz.1 + 5 950 c.750A>T c.(748-750)AAA>AAT p.K250N NM_002432 NP_002423 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 250 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(2)|skin(2) 4 all_hematologic(112;0.0378) TCCATGTGAAAGTCTTCGACA 0.373 NA 7 17 0 0 0.00308 0 0 PYHIN1 149628 broad.mit.edu 37 1 158914788 158914788 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:158914788C>T uc001ftb.2 + 7 1560 c.1315C>T c.(1315-1317)CCT>TCT p.P439S PYHIN1_uc001ftc.2_Missense_Mutation_p.P430S|PYHIN1_uc001ftd.2_Missense_Mutation_p.P439S|PYHIN1_uc001fte.2_Missense_Mutation_p.P430S NM_152501 NP_689714 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 alpha 1 439 cell cycle nuclear speck ovary(3)|pancreas(1) 4 all_hematologic(112;0.0378) TCTCAAGACTCCTCAGATGCC 0.493 NA 39 61 0 0 0.002522 0 0 DARC 2532 broad.mit.edu 37 1 159175667 159175667 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:159175667G>T uc001fto.2 + 2 678 c.438G>T c.(436-438)CTG>CTT p.L146L DARC_uc001ftp.3_Silent_p.L148L NM_002036 NP_002027 Q16570 DUFFY_HUMAN Duffy blood group antigen isoform b 146 Helical; Name=3; (Potential). defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity ovary(1)|lung(1) 2 all_hematologic(112;0.0429) AGGCTTTGCTGCTAGGGTGCC 0.647 NA 7 15 8.12818e-05 8.70909e-05 0.001984 1 0 OR10J3 441911 broad.mit.edu 37 1 159283519 159283519 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:159283519C>A uc010piu.1 - 1 931 c.931G>T c.(931-933)GTC>TTC p.V311F NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, 311 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_hematologic(112;0.0429) ATTAAGGAGACAGAGTTTTTT 0.423 NA 24 35 2.98393e-07 3.40668e-07 0.00278 1 0 KCNJ9 3765 broad.mit.edu 37 1 160057416 160057416 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:160057416C>A uc001fuy.1 + 3 1233 c.991C>A c.(991-993)CCT>ACT p.P331T NM_004983 NP_004974 Q92806 IRK9_HUMAN potassium inwardly-rectifying channel subfamily 331 Cytoplasmic (By similarity). synaptic transmission integral to membrane|plasma membrane G-protein activated inward rectifier potassium channel activity|protein binding ovary(1)|skin(1) 2 all_cancers(52;5.86e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGTGCCCACACCTTCGTGCAG 0.572 NA 24 47 4.4004e-07 4.97101e-07 0.00333 1 0 FCGR2A 2212 broad.mit.edu 37 1 161479826 161479826 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:161479826C>A uc001gan.2 + 4 634 c.581C>A c.(580-582)ACG>AAG p.T194K FCGR2A_uc001gam.2_Missense_Mutation_p.T193K|FCGR2A_uc001gao.2_RNA NM_001136219 NP_001129691 P12318 FCG2A_HUMAN Fc fragment of IgG, low affinity IIa, receptor 194 Extracellular (Potential).|Ig-like C2-type 2. integral to membrane|plasma membrane IgG binding|receptor activity ovary(1) 1 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) ATAGGCTACACGCTGTTCTCA 0.517 NA 25 39 2.98393e-07 3.40668e-07 0.00278 1 0 SH2D1B 117157 broad.mit.edu 37 1 162381686 162381686 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:162381686A>G uc001gbz.1 - 1 243 c.121T>C c.(121-123)TGC>CGC p.C41R SH2D1B_uc001gca.1_Missense_Mutation_p.C41R NM_053282 NP_444512 O14796 SH21B_HUMAN SH2 domain containing 1B 41 SH2. pancreas(1) 1 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) ACACAGAGGCACAGGACTCCT 0.502 NA 15 41 0 0 0.004007 0 0 PBX1 5087 broad.mit.edu 37 1 164532548 164532548 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:164532548G>T uc001gct.2 + 2 523 c.265G>T c.(265-267)GTT>TTT p.V89F PBX1_uc010pku.1_Missense_Mutation_p.V89F|PBX1_uc010pkv.1_Intron|PBX1_uc001gcs.2_Missense_Mutation_p.V89F NM_002585 NP_002576 P40424 PBX1_HUMAN pre-B-cell leukemia homeobox 1 89 Breakpoint for translocation to form CAA67062A-PBX1 oncogene. negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) soft_tissue(3)|lung(1)|skin(1) 5 AGAAAAAACAGGTAGGAATGA 0.313 NA T TCF3|EWSR1 pre B-ALL|myoepithelioma 23 43 7.87624e-14 1.02854e-13 0.00278 1 0 DUSP27 92235 broad.mit.edu 37 1 167095752 167095752 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:167095752C>A uc001geb.1 + 5 1384 c.1384C>A c.(1384-1386)CAC>AAC p.H462N NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 462 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 CCGCCCGGACCACGGCAGGAG 0.672 NA 6 6 8.12818e-05 8.70909e-05 0.001984 1 0 DUSP27 92235 broad.mit.edu 37 1 167096456 167096456 + Silent SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:167096456G>C uc001geb.1 + 5 2088 c.2088G>C c.(2086-2088)GCG>GCC p.A696A NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 696 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 GCAACATAGCGGGGTGTTCAA 0.597 NA 13 23 0 0 0.001855 0 0 DUSP27 92235 broad.mit.edu 37 1 167096930 167096930 + Nonsense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:167096930C>A uc001geb.1 + 5 2562 c.2562C>A c.(2560-2562)TAC>TAA p.Y854* NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 854 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 TGTCTGAGTACAAAATGGAAA 0.498 NA 19 15 6.94344e-10 8.39814e-10 0.006122 1 0 DUSP27 92235 broad.mit.edu 37 1 167097651 167097651 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:167097651T>A uc001geb.1 + 5 3283 c.3283T>A c.(3283-3285)TCT>ACT p.S1095T NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 1095 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 CTTTATGAGGTCTGAAGAAGA 0.517 NA 11 8 0 0 0.008291 0 0 CD247 919 broad.mit.edu 37 1 167407857 167407857 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:167407857C>A uc001gei.3 - 4 395 c.250G>T c.(250-252)GAT>TAT p.D84Y CD247_uc001gej.3_Missense_Mutation_p.D84Y|CD247_uc001gek.2_Missense_Mutation_p.D84Y NM_198053 NP_932170 P20963 CD3Z_HUMAN T-cell receptor zeta chain isoform 1 precursor 84 Cytoplasmic (Potential).|ITAM 1. interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytoplasm|integral to membrane protein homodimerization activity|transmembrane receptor activity 0 LUSC - Lung squamous cell carcinoma(543;0.236) TCCAAAACATCGTACTCCTCT 0.552 Ovarian(192;1815 2869 36877 43334) NA 50 73 6.08268e-21 9.1193e-21 0.00361 1 0 C1orf156 92342 broad.mit.edu 37 1 169762469 169762469 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:169762469C>A uc001ggn.2 - 2 646 c.368G>T c.(367-369)GGT>GTT p.G123V C1orf112_uc001ggj.2_Intron|C1orf112_uc001ggo.2_5'Flank|uc010plt.1_5'Flank|C1orf112_uc001ggp.2_5'Flank|C1orf112_uc001ggq.2_5'Flank|C1orf112_uc009wvt.2_5'Flank NM_033418 NP_219486 O95568 MET18_HUMAN hypothetical protein MGC9084 123 cytoplasm protein methyltransferase activity 0 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) ATGCTGGAAACCTGGTAATGT 0.373 NA 20 26 5.03518e-11 6.25436e-11 0.007413 1 0 C1orf105 92346 broad.mit.edu 37 1 172431345 172431345 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:172431345G>T uc001gik.2 + 5 497 c.301G>T c.(301-303)GAT>TAT p.D101Y NM_139240 NP_640333 O95561 CA105_HUMAN hypothetical protein LOC92346 101 skin(1) 1 GAAAATCCCAGATGATCCAAA 0.333 NA 5 6 0.000602214 0.000632636 0.000602 1 0 TNN 63923 broad.mit.edu 37 1 175046647 175046647 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:175046647C>T uc001gkl.1 + 2 206 c.93C>T c.(91-93)CCC>CCT p.P31P TNN_uc010pmx.1_Silent_p.P31P NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 31 cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) TGGAGCCTCCCGGCTGCAGCA 0.602 NA 14 31 0 0 0.00499 0 0 TNR 7143 broad.mit.edu 37 1 175335228 175335228 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:175335228G>T uc001gkp.1 - 9 2181 c.2100C>A c.(2098-2100)ACC>ACA p.T700T TNR_uc009wwu.1_Silent_p.T700T NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 700 Fibronectin type-III 5. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) GGGAGATGGAGGTCTCCGAGG 0.532 NA 18 31 1.56452e-12 1.99722e-12 0.007413 1 0 TNR 7143 broad.mit.edu 37 1 175360441 175360441 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:175360441G>C uc001gkp.1 - 5 1571 c.1490C>G c.(1489-1491)TCG>TGG p.S497W TNR_uc009wwu.1_Missense_Mutation_p.S497W NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 497 Fibronectin type-III 2. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) GACGCTGGCCGAGGTAGGGGG 0.547 NA 27 41 0 0 0.009535 0 0 RFWD2 64326 broad.mit.edu 37 1 175957423 175957423 + Splice_Site SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:175957423C>A uc001gku.1 - 17 2228 c.1972_splice c.e17+1 p.G658_splice RFWD2_uc001gkv.1_Splice_Site_p.G634_splice|RFWD2_uc001gkw.1_Splice_Site_p.G418_splice|RFWD2_uc009wwv.2_Splice_Site_p.G457_splice|RFWD2_uc001gkt.1_Splice_Site_p.G497_splice NM_022457 NP_071902 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2 isoform a DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 GTTTCACTTACCACAAGCTAT 0.368 Ovarian(134;1413 1765 5706 35534 51541) NA 8 12 0.00448238 0.00462343 0.004482 1 0 PAPPA2 60676 broad.mit.edu 37 1 176563668 176563668 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:176563668G>T uc001gkz.2 + 3 2092 c.928G>T c.(928-930)GAT>TAT p.D310Y PAPPA2_uc001gky.1_Missense_Mutation_p.D310Y|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 310 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 AGGTGTGTTTGATAACTGCTC 0.507 NA 6 17 0.00116845 0.00121886 0.001168 1 0 ASTN1 460 broad.mit.edu 37 1 176852122 176852122 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:176852122G>A uc001glc.2 - 20 3447 c.3235C>T c.(3235-3237)CTG>TTG p.L1079L ASTN1_uc001glb.1_Silent_p.L1079L|ASTN1_uc001gld.1_Silent_p.L1079L NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 1087 Fibronectin type-III 1. cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 ACAAAGCTCAGCACTGTTTCT 0.483 NA 13 37 0 0 0.001368 0 0 ASTN1 460 broad.mit.edu 37 1 176903322 176903322 + Silent SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:176903322C>G uc001glc.2 - 16 2849 c.2637G>C c.(2635-2637)CGG>CGC p.R879R ASTN1_uc001glb.1_Silent_p.R879R|ASTN1_uc001gld.1_Silent_p.R879R NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 887 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 GCCAGAGTCGCCGCTGGACCT 0.502 NA 22 33 0 0 0.003954 0 0 ASTN1 460 broad.mit.edu 37 1 176993767 176993767 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:176993767G>T uc001glc.2 - 6 1434 c.1222C>A c.(1222-1224)CTC>ATC p.L408I ASTN1_uc001glb.1_Missense_Mutation_p.L408I|ASTN1_uc001gld.1_Missense_Mutation_p.L408I|ASTN1_uc009wwx.1_Missense_Mutation_p.L408I|ASTN1_uc001gle.3_RNA NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 408 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 TTGACAACGAGAGGGCAGTTG 0.537 NA 19 22 1.67942e-08 1.97446e-08 0.006122 1 0 NPHS2 7827 broad.mit.edu 37 1 179520525 179520525 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:179520525A>G uc001gmq.3 - 8 1020 c.935T>C c.(934-936)CTG>CCG p.L312P C1orf125_uc009wxg.2_Intron|C1orf125_uc001gmo.2_Intron|C1orf125_uc001gmp.2_Intron|C1orf125_uc009wxh.2_Intron|NPHS2_uc009wxi.2_Missense_Mutation_p.L244P|C1orf125_uc001gmr.2_RNA NM_014625 NP_055440 Q9NP85 PODO_HUMAN podocin 312 Cytoplasmic (Potential). excretion integral to plasma membrane protein binding 0 GGTGCCTGACAGAATCTCAGC 0.498 NA 29 32 0 0 0.00632 0 0 CEP350 9857 broad.mit.edu 37 1 180034295 180034295 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:180034295C>T uc001gnt.2 + 27 5838 c.5455C>T c.(5455-5457)CCT>TCT p.P1819S CEP350_uc009wxl.2_Missense_Mutation_p.P1818S NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 1819 centrosome|nucleus|spindle ovary(4) 4 GGCAACCAGTCCTGGTCCAAC 0.428 NA 5 17 0 0 0.000602 0 0 CACNA1E 777 broad.mit.edu 37 1 181700366 181700366 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:181700366C>G uc001gow.2 + 19 2461 c.2296C>G c.(2296-2298)CTG>GTG p.L766V CACNA1E_uc009wxs.2_Intron|CACNA1E_uc001gox.1_5'Flank|CACNA1E_uc009wxt.2_5'Flank NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 766 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 CAGCAGCCACCTGTATGTGTG 0.522 NA 9 10 0 0 0.001368 0 0 CACNA1E 777 broad.mit.edu 37 1 181702613 181702613 + Nonsense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:181702613G>T uc001gow.2 + 21 3154 c.2989G>T c.(2989-2991)GGA>TGA p.G997* CACNA1E_uc009wxs.2_Nonsense_Mutation_p.G885*|CACNA1E_uc001gox.1_Nonsense_Mutation_p.G223*|CACNA1E_uc009wxt.2_Nonsense_Mutation_p.G223* NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 997 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 CGGGCTGGCAGGAGGCCTTGA 0.617 NA 8 27 0.000157383 0.000167241 0.00308 1 0 ZNF648 127665 broad.mit.edu 37 1 182026788 182026788 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:182026788T>C uc001goz.2 - 2 566 c.358A>G c.(358-360)AGC>GGC p.S120G NM_001009992 NP_001009992 Q5T619 ZN648_HUMAN zinc finger protein 648 120 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AGAGCTCTGCTTGCTCCCGGG 0.557 NSCLC(71;908 1374 5429 20458 35642) NA 37 42 0 0 0.004878 0 0 HMCN1 83872 broad.mit.edu 37 1 185815179 185815179 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:185815179C>A uc001grq.1 + 2 519 c.290C>A c.(289-291)ACC>AAC p.T97N NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 97 VWFA. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GTGACAATTACCACAGATCCC 0.363 NA 21 16 1.50039e-11 1.88181e-11 0.001882 1 0 HMCN1 83872 broad.mit.edu 37 1 185939626 185939626 + Splice_Site SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:185939626G>T uc001grq.1 + 15 2600 c.2371_splice c.e15+1 p.S791_splice HMCN1_uc001grr.1_Splice_Site_p.S132_splice NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GATGTTGGCTGTAAGCCTCCA 0.368 NA 91 59 1.13884e-41 2.02438e-41 0.00361 1 0 HMCN1 83872 broad.mit.edu 37 1 186088942 186088942 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:186088942C>G uc001grq.1 + 79 12251 c.12022C>G c.(12022-12024)CCA>GCA p.P4008A NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 4008 Ig-like C2-type 39. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TATTTTATTACCATGTGAAGC 0.383 NA 15 44 0 0 0.00245 0 0 HMCN1 83872 broad.mit.edu 37 1 186143709 186143709 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:186143709G>T uc001grq.1 + 103 16107 c.15878G>T c.(15877-15879)AGA>ATA p.R5293I HMCN1_uc001grs.1_Missense_Mutation_p.R862I NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 5293 EGF-like 5; calcium-binding (Potential). response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GAGAATACAAGAGGCAGCTAT 0.418 NA 34 23 5.8336e-16 7.97892e-16 0.003271 1 0 PLA2G4A 5321 broad.mit.edu 37 1 186901983 186901983 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:186901983G>T uc001gsc.2 + 8 852 c.647G>T c.(646-648)GGA>GTA p.G216V PLA2G4A_uc010pos.1_Missense_Mutation_p.G156V NM_024420 NP_077734 P47712 PA24A_HUMAN cytosolic phospholipase A2, group IVA 216 PLA2c. phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity lung(2)|breast(1) 3 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) TACGAATCAGGAATTCTGGAT 0.408 NA 32 119 3.90053e-15 5.24956e-15 0.002445 1 0 FAM5C 339479 broad.mit.edu 37 1 190068145 190068145 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:190068145C>A uc001gse.1 - 8 1536 c.1304G>T c.(1303-1305)TGC>TTC p.C435F FAM5C_uc010pot.1_Missense_Mutation_p.C333F NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 435 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) GAACGCGGTGCAGACCACCTG 0.602 NA 27 28 3.28513e-13 4.2328e-13 0.003954 1 0 FAM5C 339479 broad.mit.edu 37 1 190129960 190129960 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:190129960A>G uc001gse.1 - 7 1254 c.1022T>C c.(1021-1023)ATA>ACA p.I341T FAM5C_uc010pot.1_Missense_Mutation_p.I239T NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 341 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) CAAATGCATTATAGTAGATGT 0.323 NA 14 93 0 0 0.006122 0 0 RGS21 431704 broad.mit.edu 37 1 192335248 192335248 + Missense_Mutation SNP T T G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:192335248T>G uc001gsh.2 + 5 627 c.453T>G c.(451-453)TTT>TTG p.F151L NM_001039152 NP_001034241 Q2M5E4 RGS21_HUMAN regulator of G-protein signaling 21 151 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(1)|skin(1) 2 GGCTCCCTTTTTTGTGAGGAA 0.328 NA 27 20 0 0 0.003954 0 0 KCNT2 343450 broad.mit.edu 37 1 196311306 196311306 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:196311306C>A uc001gtd.1 - 15 1516 c.1456G>T c.(1456-1458)GGG>TGG p.G486W KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Intron|KCNT2_uc001gtf.1_Missense_Mutation_p.G486W|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.G486W|KCNT2_uc001gth.1_Missense_Mutation_p.G7W NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 486 Cytoplasmic (Potential).|RCK N-terminal. voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 ACTTCATTCCCGGAGCATCTA 0.343 NA 19 37 9.7654e-05 0.000104575 0.007413 1 0 CFHR2 3080 broad.mit.edu 37 1 196928191 196928191 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:196928191C>A uc001gtq.1 + 5 871 c.794C>A c.(793-795)CCC>CAC p.P265H CFHR2_uc001gtr.1_Missense_Mutation_p.P141H NM_005666 NP_005657 P36980 FHR2_HUMAN H factor (complement)-like 3 precursor 265 Sushi 4. extracellular region skin(2)|ovary(1) 3 CTGGTATATCCCAGTTGTGAA 0.303 NA 7 31 0.00307968 0.00318168 0.00308 1 0 ASPM 259266 broad.mit.edu 37 1 197073924 197073924 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:197073924T>C uc001gtu.2 - 18 4714 c.4457A>G c.(4456-4458)TAT>TGT p.Y1486C ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 1486 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 AGATCTAATATAAATATATTT 0.294 NA 30 15 0 0 0.008361 0 0 ASPM 259266 broad.mit.edu 37 1 197091635 197091635 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:197091635T>A uc001gtu.2 - 14 3738 c.3481A>T c.(3481-3483)ATA>TTA p.I1161L ASPM_uc001gtv.2_Missense_Mutation_p.I1161L|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 1161 CH 2. mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 CGCTGACATATAGCGTCAAAT 0.413 NA 11 13 0 0 0.008291 0 0 CACNA1S 779 broad.mit.edu 37 1 201013584 201013584 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:201013584C>A uc001gvv.2 - 39 4896 c.4669G>T c.(4669-4671)GCA>TCA p.A1557S NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 1557 Cytoplasmic (Potential). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CGCAGCCCTGCCTGGGGATGA 0.493 NA 29 37 3.1745e-13 4.09571e-13 0.008361 1 0 MYOG 4656 broad.mit.edu 37 1 203055013 203055013 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:203055013T>A uc001gzd.2 - 1 365 c.77A>T c.(76-78)CAC>CTC p.H26L NM_002479 NP_002470 P15173 MYOG_HUMAN myogenin 26 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter transcription factor complex E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity skin(2) 2 GCCCTGGAGGTGGACAGGCAG 0.627 NA 27 48 0 0 0.004656 0 0 ADORA1 134 broad.mit.edu 37 1 203134963 203134963 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:203134963C>A uc001gze.1 + 4 1349 c.916C>A c.(916-918)CAT>AAT p.H306N FMOD_uc010pqi.1_Intron|ADORA1_uc001gzf.1_Missense_Mutation_p.H306N|ADORA1_uc010pqg.1_Missense_Mutation_p.H238N|ADORA1_uc009xak.1_3'UTR|ADORA1_uc010pqh.1_Missense_Mutation_p.H339N NM_000674 NP_000665 P30542 AA1R_HUMAN adenosine A1 receptor 306 Cytoplasmic (Potential). induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis integral to plasma membrane large_intestine(1) 1 Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277) TTGGAATGACCATTTCCGCTG 0.572 NA 21 61 2.89027e-11 3.60864e-11 0.002299 1 0 PRELP 5549 broad.mit.edu 37 1 203452734 203452734 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:203452734T>C uc001gzs.2 + 2 622 c.422T>C c.(421-423)ATA>ACA p.I141T PRELP_uc001gzt.2_Missense_Mutation_p.I141T NM_002725 NP_002716 P51888 PRELP_HUMAN proline arginine-rich end leucine-rich repeat 141 LRR 3. skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent ovary(1)|central_nervous_system(1)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.109) ATCCGCAAGATAGACCAGAGG 0.567 NA 38 76 0 0 0.00623 0 0 REN 5972 broad.mit.edu 37 1 204128682 204128682 + Silent SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:204128682C>G uc001haq.2 - 5 578 c.534G>C c.(532-534)ACG>ACC p.T178T NM_000537 NP_000528 P00797 RENI_HUMAN renin preproprotein 178 angiotensin maturation|regulation of MAPKKK cascade extracellular space|membrane aspartic-type endopeptidase activity skin(3)|central_nervous_system(1) 4 all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) Aliskiren(DB01258)|Remikiren(DB00212) CGGGCATCTCCGTGACCTCTC 0.577 NA 15 34 0 0 0.004007 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204402453 204402453 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:204402453T>C uc001haw.2 - 27 4423 c.3944A>G c.(3943-3945)TAC>TGC p.Y1315C PIK3C2B_uc010pqv.1_Missense_Mutation_p.Y1287C NM_002646 NP_002637 O00750 P3C2B_HUMAN phosphoinositide-3-kinase, class 2 beta 1315 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1) 7 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) CCTAGTGAAGTAGGTAGTGGC 0.537 NA 34 23 0 0 0.002836 0 0 CD34 947 broad.mit.edu 37 1 208084384 208084384 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:208084384C>T uc001hgw.1 - 1 300 c.42G>A c.(40-42)CCG>CCA p.P14P CD34_uc001hgx.1_Silent_p.P14P|CD34_uc010psj.1_5'UTR NM_001025109 NP_001020280 P28906 CD34_HUMAN CD34 antigen isoform a 14 cell-cell adhesion|leukocyte migration|regulation of immune response integral to membrane carbohydrate binding ovary(1) 1 TCCAGCCCCGCGGCATCCTGG 0.607 NA 7 18 0 0 0.00308 0 0 LOC642587 642587 broad.mit.edu 37 1 209605662 209605662 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:209605662G>A uc009xcn.2 + 4 660 c.277G>A c.(277-279)GCA>ACA p.A93T NM_001104548 NP_001098018 hypothetical protein LOC642587 0 OV - Ovarian serous cystadenocarcinoma(81;0.0422) agcagcagcagcagcagcagc 0.279 NA 3 12 0 0 0.004672 0 0 LAMB3 3914 broad.mit.edu 37 1 209803114 209803114 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:209803114C>T uc001hhg.2 - 9 1490 c.1100G>A c.(1099-1101)CGC>CAC p.R367H LAMB3_uc009xco.2_Missense_Mutation_p.R367H|LAMB3_uc001hhh.2_Missense_Mutation_p.R367H|LAMB3_uc010psl.1_RNA NM_001017402 NP_001017402 Q13751 LAMB3_HUMAN laminin, beta 3 precursor 367 Laminin EGF-like 2. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0519) AGCTCCCGGGCGCCGGTTCCG 0.572 NA 15 61 0 0 0.00245 0 0 HSD11B1 3290 broad.mit.edu 37 1 209879219 209879219 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:209879219C>G uc001hhj.2 + 3 259 c.152C>G c.(151-153)GCT>GGT p.A51G HSD11B1_uc001hhk.2_Missense_Mutation_p.A51G NM_181755 NP_861420 P28845 DHI1_HUMAN 11-beta-hydroxysteroid dehydrogenase 1 51 Lumenal (Potential).|NADP. glucocorticoid biosynthetic process endoplasmic reticulum membrane|integral to membrane 11-beta-hydroxysteroid dehydrogenase (NADP+) activity|11-beta-hydroxysteroid dehydrogenase|binding breast(1) 1 OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115) NADH(DB00157) AGAGAGATGGCTTATCATCTG 0.512 NA 55 40 0 0 0.00361 0 0 KCNH1 3756 broad.mit.edu 37 1 211280628 211280628 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:211280628C>A uc001hib.2 - 2 341 c.171G>T c.(169-171)AGG>AGT p.R57S KCNH1_uc001hic.2_Missense_Mutation_p.R57S NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 57 Cytoplasmic (Potential).|PAS. myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) TCACTTCTGCCCTGTGATAGC 0.388 NA 33 78 4.2108e-06 4.6562e-06 0.009535 1 0 TRAF5 7188 broad.mit.edu 37 1 211526639 211526639 + Missense_Mutation SNP G G T rs148579195 byFrequency TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:211526639G>T uc001hih.2 + 2 118 c.58G>T c.(58-60)GGC>TGC p.G20C TRAF5_uc001hii.2_Missense_Mutation_p.G20C|TRAF5_uc010psx.1_Missense_Mutation_p.G20C|TRAF5_uc010psy.1_Missense_Mutation_p.G20C|TRAF5_uc001hij.2_Missense_Mutation_p.G20C NM_004619 NP_004610 O00463 TRAF5_HUMAN TNF receptor-associated factor 5 20 apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis CD40 receptor complex|centrosome|internal side of plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding lung(2)|breast(2)|ovary(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144) CCAGAATTCCGGCAACTCCAT 0.493 NA OREG0014232 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 78 87 1.92282e-43 3.44009e-43 0.00361 1 0 KCNK2 3776 broad.mit.edu 37 1 215408333 215408333 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:215408333G>C uc001hkq.2 + 7 1295 c.1126G>C c.(1126-1128)GAG>CAG p.E376Q KCNK2_uc001hko.2_Missense_Mutation_p.E372Q|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc001hkr.3_Missense_Mutation_p.E361Q NM_001017425 NP_001017425 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 isoform 376 Cytoplasmic (Potential).|Required for basal channel activity (By similarity). outward rectifier potassium channel activity 0 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) CCACAATCAGGAGCTGACTCC 0.537 NA 13 7 0 0 0.001368 0 0 USH2A 7399 broad.mit.edu 37 1 216219883 216219883 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:216219883A>T uc001hku.1 - 32 6602 c.6215T>A c.(6214-6216)CTG>CAG p.L2072Q NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2072 Extracellular (Potential).|Fibronectin type-III 7. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CCAGGAGAGCAGCAAAGAACT 0.423 NA HNSCC(13;0.011) 38 3 0 0 0.009718 0 0 USH2A 7399 broad.mit.edu 37 1 216405386 216405386 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:216405386C>A uc001hku.1 - 14 3289 c.2902G>T c.(2902-2904)GGT>TGT p.G968C USH2A_uc001hkv.2_Missense_Mutation_p.G968C NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 968 Extracellular (Potential).|Laminin EGF-like 9. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ACACACTGACCAGTCAGGCTA 0.448 NA HNSCC(13;0.011) 61 11 3.89483e-19 5.66361e-19 0.00361 1 0 SLC30A10 55532 broad.mit.edu 37 1 220101623 220101623 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:220101623C>G uc001hlw.2 - 1 371 c.160G>C c.(160-162)GGC>CGC p.G54R SLC30A10_uc001hlu.1_Intron|SLC30A10_uc001hlx.2_5'UTR NM_018713 NP_061183 Q6XR72 ZNT10_HUMAN solute carrier family 30 (zinc transporter), 54 Helical; (Potential). zinc ion transport integral to membrane|plasma membrane cation transmembrane transporter activity 0 GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209) GCGCTCAGGCCCACGCACAGC 0.697 Colon(76;360 1614 43677 51136) NA 11 2 0 0 0.008291 0 0 OBSCN 84033 broad.mit.edu 37 1 228434381 228434381 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:228434381G>T uc009xez.1 + 13 3954 c.3910G>T c.(3910-3912)GTG>TTG p.V1304L OBSCN_uc001hsn.2_Missense_Mutation_p.V1304L NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 1304 Ig-like 13. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CAGTTCGAAAGTGCGCATAGA 0.647 NA 69 19 1.55545e-33 2.65745e-33 0.00361 1 0 OBSCN 84033 broad.mit.edu 37 1 228479742 228479742 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:228479742A>G uc009xez.1 + 39 10527 c.10483A>G c.(10483-10485)ATC>GTC p.I3495V OBSCN_uc001hsn.2_Missense_Mutation_p.I3495V|OBSCN_uc001hsq.1_Missense_Mutation_p.I751V NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 3495 Ig-like 35. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) GGACAGATACATCCTGAGGCA 0.632 NA 71 12 0 0 0.00361 0 0 NUP133 55746 broad.mit.edu 37 1 229622275 229622276 + Splice_Site DNP CC CC AA TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:229622275_229622276CC>AA uc001htn.2 - 11 1435 c.1343_splice c.e11-1 p.G448_splice NM_018230 NP_060700 Q8WUM0 NU133_HUMAN nucleoporin 133kDa carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding breast(4)|skin(2)|ovary(1) 7 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) AACACTATCTCCTAAAAGAAAG 0.351 NA 19 5 0 0 0.004672 0 0 RBM34 23029 broad.mit.edu 37 1 235324532 235324532 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:235324532C>T uc001hwn.2 - 1 40 c.10G>A c.(10-12)GAA>AAA p.E4K RBM34_uc001hwo.2_RNA|ARID4B_uc001hwp.2_RNA|RBM34_uc010pxp.1_Missense_Mutation_p.E4K NM_015014 NP_055829 P42696 RBM34_HUMAN RNA binding motif protein 34 isoform 1 4 nucleolus nucleotide binding|RNA binding central_nervous_system(1) 1 Ovarian(103;0.0398) all_cancers(173;0.177)|Prostate(94;0.0166) OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121) CTCATCCCTTCCAAGGCCATT 0.627 NA 90 16 0 0 0.00361 0 0 NID1 4811 broad.mit.edu 37 1 236201413 236201413 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:236201413C>A uc001hxo.2 - 5 1378 c.1276G>T c.(1276-1278)GTT>TTT p.V426F NID1_uc009xgd.2_Missense_Mutation_p.V426F NM_002508 NP_002499 P14543 NID1_HUMAN nidogen 1 precursor 426 EGF-like 1. cell-matrix adhesion basement membrane calcium ion binding large_intestine(1)|pancreas(1) 2 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) CCTTCTGCAACACATTGCCTG 0.522 NA 51 19 7.34454e-26 1.17683e-25 0.00361 1 0 RYR2 6262 broad.mit.edu 37 1 237965165 237965165 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:237965165C>A uc001hyl.1 + 98 14220 c.14100C>A c.(14098-14100)TCC>TCA p.S4700S RYR2_uc010pyb.1_Silent_p.S133S NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4700 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GACTGAACTCCATTGATGTGA 0.393 NA 22 3 6.21321e-17 8.63244e-17 0.00278 1 0 FMN2 56776 broad.mit.edu 37 1 240255968 240255968 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:240255968C>T uc010pyd.1 + 1 784 c.559C>T c.(559-561)CAT>TAT p.H187Y FMN2_uc010pye.1_Missense_Mutation_p.H187Y NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 187 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CTATAGCTTCCATTCGGCTAC 0.478 NA 43 12 0 0 0.00361 0 0 RGS7 6000 broad.mit.edu 37 1 240975230 240975230 + Nonsense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:240975230G>T uc001hyv.2 - 14 1400 c.1070C>A c.(1069-1071)TCG>TAG p.S357* RGS7_uc010pyh.1_Nonsense_Mutation_p.S331*|RGS7_uc010pyj.1_Nonsense_Mutation_p.S273*|RGS7_uc001hyu.2_Nonsense_Mutation_p.S357*|RGS7_uc009xgn.1_Nonsense_Mutation_p.S304*|RGS7_uc001hyw.2_Nonsense_Mutation_p.S357*|RGS7_uc001hyt.2_Nonsense_Mutation_p.S189* NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 357 RGS. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity ovary(4)|skin(2)|kidney(1) 7 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TAAATTTTCCGAGCTGAATTC 0.398 NA 33 9 2.42023e-17 3.39676e-17 0.003271 1 0 WDR64 128025 broad.mit.edu 37 1 241943305 241943305 + Splice_Site SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:241943305G>C uc001hzf.1 + 11 1319 c.1166_splice c.e11-1 p.E389_splice WDR64_uc001hzg.1_Splice_Site_p.E302_splice NM_144625 NP_653226 B1ANS9 WDR64_HUMAN WD repeat domain 64 skin(1) 1 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) ATTTTATACAGAAGGACATGT 0.259 NA 8 2 0 0 0.008291 0 0 CEP170 9859 broad.mit.edu 37 1 243349110 243349110 + Nonsense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:243349110C>A uc001hzs.2 - 10 1945 c.1537G>T c.(1537-1539)GAA>TAA p.E513* CEP170_uc001hzt.2_Intron|CEP170_uc001hzu.2_Intron NM_014812 NP_055627 Q5SW79 CE170_HUMAN centrosomal protein 170kDa isoform alpha 513 centriole|microtubule|spindle ovary(1)|haematopoietic_and_lymphoid_tissue(1) 2 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) GCTTCCACTTCCTCACTGTTG 0.353 NA 72 22 1.17611e-34 2.02547e-34 0.00361 1 0 VN1R5 317705 broad.mit.edu 37 1 247419950 247419950 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:247419950C>A uc010pyu.1 + 2 577 c.577C>A c.(577-579)CGG>AGG p.R193R NM_173858 NP_776257 Q7Z5H4 VN1R5_HUMAN vomeronasal 1 receptor 5 193 Cytoplasmic (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity 0 all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) all_cancers(173;0.0314) OV - Ovarian serous cystadenocarcinoma(106;0.00854) CCCAGTGAAACGGGGCCAGTC 0.463 GBM(98;63 1399 4825 21305 33017) NA 172 41 2.41315e-71 4.51357e-71 0.00361 1 0 ZNF496 84838 broad.mit.edu 37 1 247464180 247464180 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:247464180C>T uc001ico.2 - 9 1870 c.1405G>A c.(1405-1407)GGG>AGG p.G469R ZNF496_uc009xgv.2_Missense_Mutation_p.G505R|ZNF496_uc001icp.2_Missense_Mutation_p.G469R NM_032752 NP_116141 Q96IT1 ZN496_HUMAN zinc finger protein 496 469 C2H2-type 3. positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) AAGCTCTTCCCGCAGGCACCA 0.657 NA 40 4 0 0 0.007835 0 0 OR2T3 343173 broad.mit.edu 37 1 248636956 248636956 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:248636956G>T uc001iel.1 + 1 305 c.305G>T c.(304-306)TGT>TTT p.C102F NM_001005495 NP_001005495 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, 102 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCGTCAGGCTGTGGGATCCAG 0.557 NA 37 8 1.48734e-19 2.17259e-19 0.003214 1 0 OR2T3 343173 broad.mit.edu 37 1 248637363 248637363 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:248637363G>T uc001iel.1 + 1 712 c.712G>T c.(712-714)GGC>TGC p.G238C NM_001005495 NP_001005495 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, 238 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTCTGCCGCCGGCCACAGGAA 0.562 NA 156 39 4.10442e-84 7.73679e-84 0.00361 1 0 PITRM1 10531 broad.mit.edu 37 10 3206021 3206021 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:3206021G>A uc010qah.1 - 6 623 c.591C>T c.(589-591)CAC>CAT p.H197H PITRM1_uc001igr.1_Silent_p.H229H|PITRM1_uc001igt.1_Silent_p.H229H|PITRM1_uc001igu.1_Silent_p.H221H|PITRM1_uc010qai.1_Silent_p.H200H|PITRM1_uc001igw.1_Silent_p.H229H|uc001igx.1_5'Flank E7ES23 E7ES23_HUMAN SubName: Full=cDNA FLJ54065, moderately similar to Mus musculus pitrilysin metallepetidase 1 (Pitrm1), mRNA; 197 proteolysis metalloendopeptidase activity|zinc ion binding pancreas(1) 1 CTGAGTACGTGTGGTCAGGAA 0.448 NA 40 13 0 0 0.004878 0 0 IL2RA 3559 broad.mit.edu 37 10 6104107 6104107 + Nonsense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:6104107G>C uc001iiz.1 - 1 167 c.8C>G c.(7-9)TCA>TGA p.S3* IL2RA_uc009xih.1_Nonsense_Mutation_p.S3* NM_000417 NP_000408 P01589 IL2RA_HUMAN interleukin 2 receptor, alpha chain precursor 3 cell proliferation integral to membrane interleukin-2 receptor activity ovary(1)|skin(1) 2 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) CAGCAGGTATGAATCCATCTT 0.612 NA 13 47 0 0 0.004007 0 0 ITIH5 80760 broad.mit.edu 37 10 7608211 7608211 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:7608211C>A uc001ijq.2 - 13 2388 c.2309G>T c.(2308-2310)AGA>ATA p.R770I ITIH5_uc001ijp.2_Missense_Mutation_p.R556I NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 770 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 GAGCACCAGTCTGTCCCCACC 0.582 NA 17 2 0.00400662 0.00413491 0.004007 1 0 ITIH5 80760 broad.mit.edu 37 10 7611676 7611676 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:7611676G>T uc001ijq.2 - 12 2183 c.2104C>A c.(2104-2106)CAG>AAG p.Q702K ITIH5_uc001ijp.2_Missense_Mutation_p.Q488K NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 702 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 TCCCCGGGCTGCCCATCAATG 0.547 NA 25 4 4.26978e-12 5.40075e-12 0.00333 1 0 ITIH5 80760 broad.mit.edu 37 10 7679202 7679202 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:7679202C>A uc001ijq.2 - 5 720 c.641G>T c.(640-642)GGG>GTG p.G214V ITIH5_uc001ijr.1_Missense_Mutation_p.G214V NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 214 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 TTCCCCGCGCCCACTGCCCCT 0.622 NA 88 25 5.88579e-26 9.43874e-26 0.00361 1 0 UCMA 221044 broad.mit.edu 37 10 13264168 13264168 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:13264168G>T uc001imd.2 - 5 425 c.352C>A c.(352-354)CAG>AAG p.Q118K NM_145314 NP_660357 Q8WVF2 UCMA_HUMAN upper zone of growth plate and cartilage matrix 118 Potential. proteinaceous extracellular matrix 0 TGGCGCCACTGCTCCACAGCC 0.607 NA 91 11 3.61922e-38 6.32873e-38 0.00361 1 0 FAM171A1 221061 broad.mit.edu 37 10 15296861 15296861 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:15296861G>T uc001iob.2 - 4 443 c.436C>A c.(436-438)CGC>AGC p.R146S NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN hypothetical protein LOC221061 precursor 146 Extracellular (Potential). integral to membrane ovary(2)|breast(1)|skin(1) 4 AAATGAACGCGAGGCTGTGGC 0.552 NA 16 3 1.45105e-14 1.9182e-14 0.006122 1 0 ITGA8 8516 broad.mit.edu 37 10 15658514 15658514 + Nonsense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:15658514T>A uc001ioc.1 - 14 1444 c.1444A>T c.(1444-1446)AGA>TGA p.R482* ITGA8_uc010qcb.1_Nonsense_Mutation_p.R467* NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 482 Extracellular (Potential).|FG-GAP 7. cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 ACCACATACCTGTAAACAGCG 0.343 NA 33 1 0 0 0.003271 0 0 PLXDC2 84898 broad.mit.edu 37 10 20335798 20335798 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:20335798G>C uc001iqg.1 + 3 962 c.325G>C c.(325-327)GAG>CAG p.E109Q PLXDC2_uc001iqh.1_Intron NM_032812 NP_116201 Q6UX71 PXDC2_HUMAN plexin domain containing 2 precursor 109 Extracellular (Potential). integral to membrane ovary(2)|central_nervous_system(1)|skin(1) 4 ATTATTGCAGGAGGATACAGA 0.313 NA 86 10 0 0 0.00361 0 0 MLLT10 8028 broad.mit.edu 37 10 21903816 21903816 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:21903816A>G uc001iqs.2 + 7 914 c.566A>G c.(565-567)CAA>CGA p.Q189R MLLT10_uc001iqt.2_Missense_Mutation_p.Q189R|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.Q189R|MLLT10_uc001ira.2_5'Flank|MLLT10_uc001iqz.2_5'UTR NM_004641 NP_004632 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia 189 Interaction with FSTL3.|Self-association.|PHD-type 2. positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(1)|skin(1) 2 GATAATGTCCAATACTGTGGC 0.338 NA T MLL|PICALM|CDK6 AL 4 52 0 0 0.000602 0 0 GAD2 2572 broad.mit.edu 37 10 26507994 26507994 + Silent SNP A A C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:26507994A>C uc001isp.2 + 4 812 c.309A>C c.(307-309)GGA>GGC p.G103G GAD2_uc009xkr.2_Silent_p.G103G|GAD2_uc001isq.2_Silent_p.G103G NM_001134366 NP_001127838 Q05329 DCE2_HUMAN glutamate decarboxylase 2 103 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 L-Glutamic Acid(DB00142) CGTGTGATGGAGAAAGGCCCA 0.363 NA 47 30 0 0 0.00361 0 0 KIAA1462 57608 broad.mit.edu 37 10 30316682 30316682 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:30316682G>T uc001iux.2 - 2 2454 c.2395C>A c.(2395-2397)CGG>AGG p.R799R KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Silent_p.R661R|KIAA1462_uc009xle.1_Silent_p.R799R NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 799 ovary(4) 4 ACCACCTCCCGCTTAGGCCCA 0.612 NA 107 64 2.66069e-56 4.89607e-56 0.00361 1 0 FZD8 8325 broad.mit.edu 37 10 35929082 35929082 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:35929082C>A uc001iyz.1 - 1 1281 c.1276G>T c.(1276-1278)GGT>TGT p.G426C NM_031866 NP_114072 Q9H461 FZD8_HUMAN frizzled 8 precursor 426 Cytoplasmic (Potential). axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development cell projection|Golgi apparatus|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding 0 CACTTCATACCGGCCGCCAGG 0.632 NA 9 43 1.12685e-05 1.23405e-05 0.004482 1 0 ZNF33A 7581 broad.mit.edu 37 10 38343357 38343357 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:38343357A>T uc001izh.2 + 5 480 c.302A>T c.(301-303)CAT>CTT p.H101L ZNF33A_uc001izg.2_Missense_Mutation_p.H102L|ZNF33A_uc010qev.1_Missense_Mutation_p.H108L|ZNF33A_uc001izi.1_Missense_Mutation_p.H102L NM_006974 NP_008905 Q06730 ZN33A_HUMAN zinc finger protein 33A isoform b 101 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 CAATCTAAACATTTGTGGGAA 0.348 NA 68 29 0 0 0.00361 0 0 ZNF37A 7587 broad.mit.edu 37 10 38406450 38406450 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:38406450G>T uc001izk.2 + 8 1190 c.371G>T c.(370-372)GGG>GTG p.G124V ZNF37A_uc001izl.2_Missense_Mutation_p.G124V|ZNF37A_uc001izm.2_Missense_Mutation_p.G124V NM_001007094 NP_001007095 P17032 ZN37A_HUMAN zinc finger protein 37a 124 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1) 1 AATAAAAATGGGAACAGCTTC 0.338 NA 72 41 1.43675e-24 2.26462e-24 0.00361 1 0 HNRNPA3P1 10151 broad.mit.edu 37 10 44285076 44285076 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:44285076C>G uc010qfe.1 - 1 790 c.760G>C c.(760-762)GGT>CGT p.G254R NR_002726 SubName: Full=cDNA FLJ52659, highly similar to Heterogeneous nuclear ribonucleoprotein A3; SubName: Full=cDNA, FLJ79333, highly similar to Heterogeneous nuclear ribonucleoprotein A3; SubName: Full=Heterogeneous nuclear ribonucleoprotein A3, isoform CRA_a; 0 ctgctgccaccacctccacca 0.065 NA 25 48 0 0 0.004656 0 0 RBP3 5949 broad.mit.edu 37 10 48382182 48382182 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:48382182T>C uc001jez.2 - 4 3581 c.3467A>G c.(3466-3468)TAT>TGT p.Y1156C NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 1156 4 X approximate tandem repeats.|4. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) CTTCATGATATAGGTGAACTC 0.592 NA 17 50 0 0 0.002299 0 0 RBP3 5949 broad.mit.edu 37 10 48389347 48389347 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:48389347C>T uc001jez.2 - 1 1645 c.1531G>A c.(1531-1533)GAT>AAT p.D511N NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 511 4 X approximate tandem repeats.|2. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) GTGCGGCGATCATAGGTGGTG 0.657 NA 29 28 0 0 0.007291 0 0 FRMPD2 143162 broad.mit.edu 37 10 49431294 49431294 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:49431294C>A uc001jgi.2 - 11 1295 c.1188G>T c.(1186-1188)CTG>CTT p.L396L FRMPD2_uc001jgh.2_Silent_p.L365L|FRMPD2_uc001jgj.2_Silent_p.L374L NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 isoform 3 396 FERM. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding large_intestine(1) 1 Kidney(211;0.201) TTTCACTGTCCAGGAAAAAGA 0.468 NA 33 32 9.65021e-13 1.23681e-12 0.002096 1 0 LRRC18 474354 broad.mit.edu 37 10 50121911 50121911 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:50121911C>T uc001jhd.2 - 1 370 c.290G>A c.(289-291)AGC>AAC p.S97N WDFY4_uc001jha.3_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.S97N NM_001006939 NP_001006940 Q8N456 LRC18_HUMAN leucine rich repeat containing 18 97 LRR 4. cytoplasm ovary(1)|pancreas(1) 2 GTAGAGCAGGCTGGTCATCTG 0.567 NA 20 20 0 0 0.008871 0 0 C10orf72 196740 broad.mit.edu 37 10 50272760 50272760 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:50272760C>A uc001jhf.2 - 5 685 c.656G>T c.(655-657)TGC>TTC p.C219F NM_001031746 NP_001026916 Q8IW00 CJ072_HUMAN hypothetical protein LOC196740 isoform 1 219 Cytoplasmic (Potential). integral to membrane|plasma membrane 0 GTTCTGAGGGCATTTCACCAA 0.308 NA 23 34 2.21704e-12 2.82089e-12 0.00278 1 0 C10orf128 170371 broad.mit.edu 37 10 50374978 50374978 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:50374978C>G uc001jhn.3 - 3 200 c.174G>C c.(172-174)ATG>ATC p.M58I C10orf128_uc001jhl.3_RNA|C10orf128_uc001jhm.3_Missense_Mutation_p.M58I|C10orf128_uc010qgo.1_Missense_Mutation_p.M58I|C10orf128_uc001jho.3_Missense_Mutation_p.M58I NM_001010863 NP_001010863 Q5T292 CJ128_HUMAN hypothetical protein LOC170371 precursor 58 Helical; (Potential). integral to membrane lung(1) 1 GCCTCCTGATCATGCAGATCT 0.577 NA 16 43 0 0 0.004007 0 0 PGBD3 267004 broad.mit.edu 37 10 50723798 50723798 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:50723798C>A uc001jht.2 - 2 1618 c.1363G>T c.(1363-1365)GTG>TTG p.V455L ERCC6_uc001jhs.3_Intron|PGBD3_uc009xoe.2_Missense_Mutation_p.V923L|PGBD3_uc001jhu.2_Missense_Mutation_p.V923L NM_170753 NP_736609 Q8N328 PGBD3_HUMAN hypothetical protein LOC267004 455 pancreas(1)|breast(1)|skin(1) 3 TGGTTATACACTTTGATCATG 0.438 NA 100 54 1.85599e-38 3.25134e-38 0.00361 1 0 OGDHL 55753 broad.mit.edu 37 10 50964944 50964944 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:50964944A>T uc001jie.2 - 3 395 c.253T>A c.(253-255)TCT>ACT p.S85T OGDHL_uc009xog.2_Missense_Mutation_p.S112T|OGDHL_uc010qgt.1_Intron|OGDHL_uc010qgu.1_Intron|OGDHL_uc009xoh.2_5'UTR NM_018245 NP_060715 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like isoform a 85 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding pancreas(1) 1 GGCTGAGCAGAGCCAGAAAAG 0.587 NA 28 30 0 0 0.00632 0 0 PCDH15 65217 broad.mit.edu 37 10 55566820 55566820 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:55566820C>G uc010qhq.1 - 36 4963 c.4568G>C c.(4567-4569)AGT>ACT p.S1523T PCDH15_uc010qhr.1_Missense_Mutation_p.S1518T NM_001142771 NP_001136243 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD3-1 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TTCAGGAGCACTGTCTTCTCC 0.388 NA HNSCC(58;0.16) 7 25 0 0 0.001984 0 0 PCDH15 65217 broad.mit.edu 37 10 55570367 55570367 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:55570367C>A uc010qhs.1 - 36 4862 c.4467G>T c.(4465-4467)GAG>GAT p.E1489D PCDH15_uc010qhq.1_Missense_Mutation_p.E1482D|PCDH15_uc010qhr.1_Missense_Mutation_p.E1477D|PCDH15_uc010qht.1_Missense_Mutation_p.E1482D|PCDH15_uc010qhu.1_Missense_Mutation_p.R1501M NM_001142769 NP_001136241 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD2-1 precursor Error:Variant_position_missing_in_Q96QU1_after_alignment equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) CACCATATTCCTCCTGTCCAG 0.363 NA HNSCC(58;0.16) 81 23 2.78983e-34 4.78328e-34 0.00361 1 0 PCDH15 65217 broad.mit.edu 37 10 55591103 55591103 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:55591103T>A uc001jju.1 - 30 4569 c.4174A>T c.(4174-4176)ATC>TTC p.I1392F PCDH15_uc010qhq.1_Missense_Mutation_p.I1397F|PCDH15_uc010qhr.1_Missense_Mutation_p.I1392F|PCDH15_uc010qhs.1_Missense_Mutation_p.I1404F|PCDH15_uc010qht.1_Missense_Mutation_p.I1399F|PCDH15_uc010qhu.1_Missense_Mutation_p.I1392F|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.I1392F|PCDH15_uc010qhw.1_Missense_Mutation_p.I1355F|PCDH15_uc010qhx.1_Missense_Mutation_p.I1321F|PCDH15_uc010qhy.1_Missense_Mutation_p.I1397F|PCDH15_uc010qhz.1_Missense_Mutation_p.I1392F|PCDH15_uc010qia.1_Missense_Mutation_p.I1370F|PCDH15_uc010qib.1_Missense_Mutation_p.I1370F NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1392 Helical; (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) ACCACCAAGATGGCAGGAATG 0.463 NA HNSCC(58;0.16) 37 8 0 0 0.007835 0 0 PCDH15 65217 broad.mit.edu 37 10 55912946 55912946 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:55912946G>T uc001jju.1 - 14 2093 c.1698C>A c.(1696-1698)ACC>ACA p.T566T PCDH15_uc010qhq.1_Silent_p.T571T|PCDH15_uc010qhr.1_Silent_p.T566T|PCDH15_uc010qhs.1_Silent_p.T578T|PCDH15_uc010qht.1_Silent_p.T573T|PCDH15_uc010qhu.1_Silent_p.T566T|PCDH15_uc001jjv.1_Silent_p.T544T|PCDH15_uc010qhv.1_Silent_p.T566T|PCDH15_uc010qhw.1_Silent_p.T529T|PCDH15_uc010qhx.1_Silent_p.T566T|PCDH15_uc010qhy.1_Silent_p.T571T|PCDH15_uc010qhz.1_Silent_p.T566T|PCDH15_uc010qia.1_Silent_p.T544T|PCDH15_uc010qib.1_Silent_p.T544T|PCDH15_uc001jjw.2_Silent_p.T566T NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 566 Cadherin 5.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) CTGGAGCGATGGTGATAAGCC 0.498 NA HNSCC(58;0.16) 42 9 4.67007e-22 7.12858e-22 0.00874 1 0 NEUROG3 50674 broad.mit.edu 37 10 71332416 71332416 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:71332416G>T uc001jpp.2 - 2 542 c.384C>A c.(382-384)GCC>GCA p.A128A NM_020999 NP_066279 Q9Y4Z2 NGN3_HUMAN neurogenin 3 128 Helix-loop-helix motif. central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus transcription coactivator activity 0 TGTAGTTGTGGGCGAAGCGCA 0.662 NA 29 3 1.39806e-14 1.85576e-14 0.008361 1 0 ADAMTS14 140766 broad.mit.edu 37 10 72520564 72520564 + Silent SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:72520564G>C uc001jrh.2 + 22 3627 c.3627G>C c.(3625-3627)CTG>CTC p.L1209L ADAMTS14_uc001jrg.2_Silent_p.L1212L NM_080722 NP_542453 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 1209 Pro-rich. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|upper_aerodigestive_tract(1) 6 GAGAAGACCTGAGACATCCCG 0.642 NA 25 8 0 0 0.005443 0 0 UNC5B 219699 broad.mit.edu 37 10 73050686 73050686 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:73050686G>T uc001jro.2 + 9 1559 c.1114G>T c.(1114-1116)GGG>TGG p.G372W UNC5B_uc001jrp.2_Missense_Mutation_p.G361W NM_170744 NP_734465 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B precursor 372 Extracellular (Potential). apoptosis|axon guidance|regulation of apoptosis integral to membrane ovary(2)|lung(1) 3 GGAGGCCTCAGGGGATGCGGC 0.637 NA 131 38 1.5108e-63 2.80951e-63 0.00361 1 0 SPOCK2 9806 broad.mit.edu 37 10 73826741 73826741 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:73826741G>A uc001jso.1 - 8 1292 c.847C>T c.(847-849)CGT>TGT p.R283C SPOCK2_uc001jsp.2_Missense_Mutation_p.R283C NM_014767 NP_055582 Q92563 TICN2_HUMAN sparc/osteonectin, cwcv and kazal-like domains 283 extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly proteinaceous extracellular matrix calcium ion binding 0 AAGAAGGGACGGATGCAGACC 0.587 NA 28 44 0 0 0.005443 0 0 KCNMA1 3778 broad.mit.edu 37 10 78832898 78832898 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:78832898G>T uc001jxn.2 - 14 1883 c.1706C>A c.(1705-1707)TCC>TAC p.S569Y KCNMA1_uc001jxj.2_Missense_Mutation_p.S569Y|KCNMA1_uc001jxk.1_Missense_Mutation_p.S184Y|KCNMA1_uc009xrt.1_Missense_Mutation_p.S389Y|KCNMA1_uc001jxl.1_Missense_Mutation_p.S223Y|KCNMA1_uc001jxo.2_Missense_Mutation_p.S569Y|KCNMA1_uc001jxm.2_Missense_Mutation_p.S569Y|KCNMA1_uc001jxq.2_Missense_Mutation_p.S569Y NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN large conductance calcium-activated potassium 569 Segment S7.|Cytoplasmic (Potential). cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity pancreas(2)|ovary(1) 3 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) AAGCATGGTGGAGAGGCCTTG 0.507 NA 24 5 7.87624e-14 1.02854e-13 0.00278 1 0 ZMIZ1 57178 broad.mit.edu 37 10 80976007 80976007 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:80976007G>A uc001kaf.2 + 7 828 c.256G>A c.(256-258)GAC>AAC p.D86N ZMIZ1_uc001kae.2_Missense_Mutation_p.D86N NM_020338 NP_065071 Q9ULJ6 ZMIZ1_HUMAN retinoic acid induced 17 86 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding ovary(2)|breast(1)|skin(1) 4 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) TGCAAACCGAGACAAGTTCAC 0.597 NA 16 4 0 0 0.00499 0 0 GRID1 2894 broad.mit.edu 37 10 87379728 87379728 + Silent SNP C C T rs142646668 byFrequency TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:87379728C>T uc001kdl.1 - 14 2357 c.2256G>A c.(2254-2256)ACG>ACA p.T752T GRID1_uc009xsu.1_Intron|GRID1_uc010qmf.1_Silent_p.T323T NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 752 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) AGTCGTCATCCGTCAGGGCTG 0.567 NA Multiple Myeloma(13;0.14) 41 7 0 0 0.002522 0 0 PTEN 5728 broad.mit.edu 37 10 89653808 89653808 + Nonsense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:89653808G>T uc001kfb.2 + 3 1137 c.106G>T c.(106-108)GGA>TGA p.G36* NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 36 Phosphatase tensin-type. G -> R (in endometrial hyperplasia).|G -> E (in glioma). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.?(4)|p.G36E(4)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G36V(2)|p.G36*(1)|p.A34_G36del(1)|p.G36R(1)|p.G36fs*18(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TATTGCTATGGGATTTCCTGC 0.284 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 24 6 2.79863e-10 3.4235e-10 0.004656 1 0 LIPF 8513 broad.mit.edu 37 10 90429683 90429683 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:90429683A>T uc001kfg.1 + 5 678 c.512A>T c.(511-513)CAT>CTT p.H171L LIPF_uc001kfh.1_Missense_Mutation_p.H148L|LIPF_uc010qmt.1_Missense_Mutation_p.H181L|LIPF_uc010qmu.1_Missense_Mutation_p.H138L NM_004190 NP_004181 P07098 LIPG_HUMAN lipase, gastric precursor 171 lipid catabolic process|triglyceride metabolic process extracellular region lipid binding|triglyceride lipase activity 0 Colorectal(252;0.0161) Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05) TATGTTGGCCATTCCCAGGGC 0.403 NA 130 33 0 0 0.00361 0 0 TLL2 7093 broad.mit.edu 37 10 98157013 98157013 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:98157013G>A uc001kml.1 - 11 1540 c.1314C>T c.(1312-1314)GAC>GAT p.D438D TLL2_uc009xvf.1_Silent_p.D416D NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN tolloid-like 2 precursor 438 CUB 1. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) AGAGCCGGCTGTCCGTGGAGA 0.577 NA 26 8 0 0 0.00333 0 0 TLL2 7093 broad.mit.edu 37 10 98170154 98170154 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:98170154G>T uc001kml.1 - 9 1352 c.1126C>A c.(1126-1128)CAC>AAC p.H376N TLL2_uc009xvf.1_Missense_Mutation_p.H354N NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN tolloid-like 2 precursor 376 CUB 1. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CAGACGCAGTGGGAGTAAGAT 0.567 NA 22 8 1.10923e-09 1.33494e-09 0.00278 1 0 PIK3AP1 118788 broad.mit.edu 37 10 98411116 98411116 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:98411116T>C uc001kmq.2 - 6 1005 c.877A>G c.(877-879)AAC>GAC p.N293D PIK3AP1_uc001kmp.2_Missense_Mutation_p.N115D NM_152309 NP_689522 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 293 DBB. cytoplasm|plasma membrane upper_aerodigestive_tract(3)|ovary(1)|skin(1) 5 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) GTCTCTGTGTTGTAGGGCACA 0.448 NA 15 22 0 0 0.003163 0 0 C10orf12 26148 broad.mit.edu 37 10 98741316 98741316 + Nonsense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:98741316G>T uc001kmv.2 + 1 276 c.169G>T c.(169-171)GAG>TAG p.E57* C10orf12_uc009xvg.1_Nonsense_Mutation_p.E367* NM_015652 NP_056467 Q8N655 CJ012_HUMAN hypothetical protein LOC26148 57 skin(2) 2 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) TGCTGACAAAGAGAATACTTT 0.413 NA 14 24 0.00244969 0.00253897 0.00245 1 0 ABCC2 1244 broad.mit.edu 37 10 101610458 101610458 + Silent SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:101610458A>G uc001kqf.2 + 31 4552 c.4413A>G c.(4411-4413)ACA>ACG p.T1471T NM_000392 NP_000383 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), 1471 Cytoplasmic (By similarity).|ABC transporter 2. apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) ATCTAGAGACAGACAACCTCA 0.572 NA 50 22 0 0 0.00361 0 0 PKD2L1 9033 broad.mit.edu 37 10 102054763 102054763 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:102054763C>T uc001kqx.1 - 8 1857 c.1474G>A c.(1474-1476)GCC>ACC p.A492T PKD2L1_uc009xwm.1_Missense_Mutation_p.A445T NM_016112 NP_057196 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 492 Helical; (Potential). signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding ovary(4) 4 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) CCGAGTTGGGCATAGGCGAAG 0.547 NA 44 6 0 0 0.00874 0 0 KAZALD1 81621 broad.mit.edu 37 10 102822830 102822830 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:102822830A>T uc001ksr.2 + 2 1406 c.481A>T c.(481-483)ACT>TCT p.T161S KAZALD1_uc001kss.3_RNA|KAZALD1_uc001kst.1_Missense_Mutation_p.T161S NM_030929 NP_112191 Q96I82 KAZD1_HUMAN Kazal-type serine peptidase inhibitor domain 1 161 Kazal-like. cell differentiation|multicellular organismal development|ossification|regulation of cell growth insulin-like growth factor binding 0 Epithelial(162;6.21e-09)|all cancers(201;3.14e-07) TGCCAACCTCACTGTGGCACA 0.692 NA 26 9 0 0 0.004656 0 0 FBXW4 6468 broad.mit.edu 37 10 103372211 103372211 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:103372211C>A uc001kto.2 - 7 1206 c.860G>T c.(859-861)GGC>GTC p.G287V NM_022039 NP_071322 P57775 FBXW4_HUMAN F-box and WD repeat domain containing 4 287 ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway ubiquitin ligase complex skin(1) 1 Colorectal(252;0.123) Epithelial(162;4.35e-08)|all cancers(201;1.92e-06) AAAGTCACTGCCCAAGTGTGT 0.562 NA 51 11 8.99859e-20 1.31743e-19 0.00361 1 0 CCDC147 159686 broad.mit.edu 37 10 106207461 106207461 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:106207461G>T uc001kyh.2 + 16 2396 c.2262G>T c.(2260-2262)AAG>AAT p.K754N NM_001008723 NP_001008723 Q5T655 CC147_HUMAN coiled-coil domain containing 147 754 Potential. ovary(2)|central_nervous_system(2)|skin(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) ACTAGGAAAAGGAGAAACTCT 0.542 NA 60 11 1.64573e-32 2.78953e-32 0.00361 1 0 SORCS1 114815 broad.mit.edu 37 10 108521397 108521397 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:108521397C>A uc001kym.2 - 5 916 c.908G>T c.(907-909)GGG>GTG p.G303V SORCS1_uc001kyl.2_Missense_Mutation_p.G303V|SORCS1_uc009xxs.2_Missense_Mutation_p.G303V|SORCS1_uc001kyn.1_Missense_Mutation_p.G303V|SORCS1_uc001kyo.2_Missense_Mutation_p.G303V NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 303 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) CCATCTTCTCCCAAATTCAGC 0.373 NA 18 2 1.50039e-11 1.88181e-11 0.001882 1 0 ATRNL1 26033 broad.mit.edu 37 10 116919881 116919881 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:116919881G>T uc001lcg.2 + 6 1296 c.910G>T c.(910-912)GGT>TGT p.G304C ATRNL1_uc001lce.2_RNA|ATRNL1_uc001lcf.2_Missense_Mutation_p.G304C|ATRNL1_uc009xyq.2_Missense_Mutation_p.G304C NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 304 Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) TCCTTCTGTAGGTCGGGCTTC 0.368 NA 119 19 2.09629e-50 3.82474e-50 0.00361 1 0 C10orf96 374355 broad.mit.edu 37 10 118117397 118117397 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:118117397G>T uc001lck.2 + 7 851 c.600G>T c.(598-600)GAG>GAT p.E200D NM_198515 NP_940917 P0C7W6 CJ096_HUMAN hypothetical protein LOC374355 200 ovary(2) 2 Lung NSC(174;0.204)|all_lung(145;0.248) all cancers(201;0.014) AATATCTAGAGGCAGAAAAAA 0.274 NA 7 6 0.00198382 0.00205832 0.001984 1 0 HSPA12A 259217 broad.mit.edu 37 10 118464761 118464761 + Missense_Mutation SNP T T G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:118464761T>G uc001lct.2 - 3 260 c.155A>C c.(154-156)CAG>CCG p.Q52P HSPA12A_uc001lcu.2_5'UTR NM_025015 NP_079291 O43301 HS12A_HUMAN heat shock 70kDa protein 12A 52 ATP binding ovary(1) 1 all cancers(201;0.0158) AAATGACTGCTGTTCTGAGAC 0.577 NA 35 69 0 0 0.004878 0 0 HSPA12A 259217 broad.mit.edu 37 10 118464790 118464790 + Splice_Site SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:118464790C>A uc001lct.2 - 3 232 c.127_splice c.e3-1 p.N43_splice HSPA12A_uc001lcu.2_Splice_Site NM_025015 NP_079291 O43301 HS12A_HUMAN heat shock 70kDa protein 12A ATP binding ovary(1) 1 all cancers(201;0.0158) CAGTGTCGTTCTGCAGATATA 0.582 NA 77 24 9.90312e-32 1.67272e-31 0.00361 1 0 SEC23IP 11196 broad.mit.edu 37 10 121662451 121662451 + Silent SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:121662451A>G uc001leu.1 + 3 909 c.837A>G c.(835-837)GTA>GTG p.V279V SEC23IP_uc010qtc.1_Silent_p.V68V NM_007190 NP_009121 Q9Y6Y8 S23IP_HUMAN Sec23-interacting protein p125 279 Interaction with SEC23A. Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding ovary(3) 3 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) GCAAGGAGGTAGAATACAAAC 0.418 NA 40 10 0 0 0.00874 0 0 DMBT1 1755 broad.mit.edu 37 10 124351009 124351009 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:124351009A>G uc001lgk.1 + 19 2258 c.2152A>G c.(2152-2154)ATC>GTC p.I718V DMBT1_uc001lgl.1_Missense_Mutation_p.I708V|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.I718V|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 718 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GTTGTCGACCATCACGTTACC 0.438 Ovarian(182;93 2026 18125 22222 38972) NA 160 43 0 0 0.00361 0 0 C10orf137 26098 broad.mit.edu 37 10 127426992 127426992 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:127426992G>T uc001liq.1 + 15 2252 c.1959G>T c.(1957-1959)CAG>CAT p.Q653H C10orf137_uc001lin.2_Missense_Mutation_p.Q619H|C10orf137_uc001lio.1_Missense_Mutation_p.Q619H|C10orf137_uc001lip.1_Missense_Mutation_p.Q357H|C10orf137_uc001lir.2_Missense_Mutation_p.Q147H|C10orf137_uc001lis.1_5'Flank NM_015608 NP_056423 Q3B7T1 EDRF1_HUMAN erythroid differentiation-related factor 1 653 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding ovary(5)|large_intestine(3)|lung(2) 10 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) TAGAGAAGCAGATGGCCTTGT 0.428 NA 30 9 2.61193e-14 3.43638e-14 0.009535 1 0 KNDC1 85442 broad.mit.edu 37 10 135000110 135000110 + Nonsense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:135000110C>T uc001llz.1 + 6 1259 c.1258C>T c.(1258-1260)CAG>TAG p.Q420* KNDC1_uc001lma.1_Nonsense_Mutation_p.Q355* NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 420 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) CGGTGAAGCCCAGACTCCCAG 0.657 NA 25 8 0 0 0.004289 0 0 LOC653544 653544 broad.mit.edu 37 10 135491125 135491125 + Missense_Mutation SNP G G A rs140402194 by1000genomes TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:135491125G>A uc010qvi.1 + 1 847 c.736G>A c.(736-738)GCG>ACG p.A246T NM_001127389 NP_001120861 F5GZ66 F5GZ66_HUMAN double homeobox, 4-like 246 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CCACACCGGCGCGTGGGGAAC 0.781 NA 4 12 0 0 0.001168 0 0 B4GALNT4 338707 broad.mit.edu 37 11 372748 372748 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:372748G>T uc001lpb.2 + 3 351 c.342G>T c.(340-342)CGG>CGT p.R114R NM_178537 NP_848632 Q76KP1 B4GN4_HUMAN beta 114 Lumenal (Potential). Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity pancreas(1) 1 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCCCATGGCGGGAGGAGGTGA 0.532 NA 19 4 9.95505e-16 1.35681e-15 0.002299 1 0 MUC5B 727897 broad.mit.edu 37 11 1155780 1155780 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:1155780C>T uc009ycr.1 + 5 594 c.468C>T c.(466-468)GGC>GGT p.G156G NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 152 VWFD 1. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) TGGTCAACGGCCACCCGTGAG 0.677 NA 22 5 0 0 0.005443 0 0 KRTAP5-3 387266 broad.mit.edu 37 11 1629419 1629419 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:1629419A>T uc001ltw.1 - 1 275 c.197T>A c.(196-198)GTC>GAC p.V66D NM_001012708 NP_001012726 Q6L8H2 KRA53_HUMAN keratin associated protein 5-3 66 11 X 4 AA repeats of C-C-X-P. keratin filament ovary(2) 2 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) AGAGCCACAGACCCCCTTGGA 0.672 NA 82 99 0 0 0.00361 0 0 TRIM21 6737 broad.mit.edu 37 11 4411570 4411570 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:4411570C>A uc001lyy.1 - 2 183 c.70G>T c.(70-72)GTG>TTG p.V24L NM_003141 NP_003132 P19474 RO52_HUMAN tripartite motif protein 21 24 RING-type. cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization cytoplasmic mRNA processing body|nucleus DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|lung(1) 4 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194) ACAGGCTCCACGAAGGGGTCC 0.582 NA 74 15 2.0493e-37 3.56095e-37 0.00361 1 0 OR52K2 119774 broad.mit.edu 37 11 4470577 4470577 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:4470577C>T uc001lyz.1 + 1 8 c.8C>T c.(7-9)GCC>GTC p.A3V NM_001005172 NP_001005172 Q8NGK3 O52K2_HUMAN olfactory receptor, family 52, subfamily K, 3 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) GCCATGTCAGCCTCCAATATC 0.473 NA 34 7 0 0 0.003271 0 0 OR52K1 390036 broad.mit.edu 37 11 4510930 4510930 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:4510930C>T uc001lza.1 + 1 800 c.800C>T c.(799-801)GCC>GTC p.A267V NM_001005171 NP_001005171 Q8NGK4 O52K1_HUMAN olfactory receptor, family 52, subfamily K, 267 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192) CACCGTGTAGCCCGCCATGCT 0.512 NA 61 99 0 0 0.00361 0 0 OR52M1 119772 broad.mit.edu 37 11 4566571 4566571 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:4566571G>T uc010qyf.1 + 1 151 c.151G>T c.(151-153)GTA>TTA p.V51L NM_001004137 NP_001004137 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, 51 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CCTGGCTGTGGTAAAGATAGA 0.537 NA 55 15 2.01807e-28 3.31883e-28 0.00361 1 0 OR52R1 119695 broad.mit.edu 37 11 4825714 4825714 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:4825714A>G uc010qym.1 - 1 134 c.134T>C c.(133-135)ATA>ACA p.I45T NM_001005177 NP_001005177 Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, Error:Variant_position_missing_in_Q8NGF1_after_alignment sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) GGATGGGACTATTGGATACCA 0.323 NA 31 6 0 0 0.007291 0 0 OR51F2 119694 broad.mit.edu 37 11 4843542 4843542 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:4843542G>T uc010qyn.1 + 1 927 c.927G>T c.(925-927)AAG>AAT p.K309N NM_001004753 NP_001004753 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, 309 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) ACAGTGTAAAGATTAAGCAGA 0.383 NA 38 64 3.62531e-18 5.17825e-18 0.004289 1 0 HBE1 3046 broad.mit.edu 37 11 5289756 5289756 + Silent SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:5289756A>T uc001mal.1 - 3 640 c.387T>A c.(385-387)GCT>GCA p.A129A HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Silent_p.A129A NM_005330 NP_005321 P02100 HBE_HUMAN epsilon globin 129 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity 0 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTGCCAGGCAGCCTGCACTT 0.517 NA 72 21 0 0 0.00361 0 0 OR51B4 79339 broad.mit.edu 37 11 5322292 5322292 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:5322292C>A uc010qza.1 - 1 885 c.885G>T c.(883-885)CAG>CAT p.Q295H HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_033179 NP_149419 Q9Y5P0 O51B4_HUMAN olfactory receptor, family 51, subfamily B, 295 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTCTTTGAATCTGCTTGGTCT 0.433 NA 30 4 2.48696e-23 3.83861e-23 0.003271 1 0 OR51B6 390058 broad.mit.edu 37 11 5373621 5373621 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:5373621A>T uc010qzb.1 + 1 884 c.884A>T c.(883-885)AAG>ATG p.K295M HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004750 NP_001004750 Q9H340 O51B6_HUMAN olfactory receptor, family 51, subfamily B, 295 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATTAAAACTAAGCAGATTCAG 0.413 NA 50 5 0 0 0.00361 0 0 OR51I2 390064 broad.mit.edu 37 11 5475259 5475259 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:5475259C>G uc010qzf.1 + 1 541 c.541C>G c.(541-543)CAC>GAC p.H181D HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004754 NP_001004754 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, 181 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTACTGCCTGCACCCAGACAT 0.458 NA 55 18 0 0 0.00361 0 0 OR52N1 79473 broad.mit.edu 37 11 5809322 5809322 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:5809322G>T uc010qzo.1 - 1 725 c.725C>A c.(724-726)ACC>AAC p.T242N TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001001913 NP_001001913 Q8NH53 O52N1_HUMAN olfactory receptor, family 52, subfamily N, 242 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) GGCAGTGCAGGTGCTGAAGGC 0.473 NA 21 41 2.54575e-18 3.64432e-18 0.010504 1 0 OR52N1 79473 broad.mit.edu 37 11 5809569 5809569 + Missense_Mutation SNP G G T rs149811568 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:5809569G>T uc010qzo.1 - 1 478 c.478C>A c.(478-480)CCT>ACT p.P160T TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001001913 NP_001001913 Q8NH53 O52N1_HUMAN olfactory receptor, family 52, subfamily N, 160 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P160S(1) skin(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) AAAGTGGAAGGGATAACAAGC 0.498 NA 35 3 1.99505e-19 2.90544e-19 0.002445 1 0 OR56B4 196335 broad.mit.edu 37 11 6129388 6129388 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:6129388A>T uc010qzx.1 + 1 380 c.380A>T c.(379-381)GAC>GTC p.D127V NM_001005181 NP_001005181 Q8NH76 O56B4_HUMAN olfactory receptor, family 56, subfamily B, 127 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATGGCAGTAGACAGATACATA 0.493 NA 91 21 0 0 0.00361 0 0 OR6A2 8590 broad.mit.edu 37 11 6816919 6816919 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:6816919A>T uc001mes.1 - 1 221 c.21T>A c.(19-21)AGT>AGA p.S7R NM_003696 NP_003687 O95222 OR6A2_HUMAN olfactory receptor, family 6, subfamily A, 7 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TCACTCTCCCACTATGGTTCC 0.512 NA 19 42 0 0 0.008871 0 0 OVCH2 341277 broad.mit.edu 37 11 7712603 7712603 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:7712603G>T uc010rbf.1 - 15 1536 c.1536C>A c.(1534-1536)ACC>ACA p.T512T NM_198185 NP_937828 ovochymase 2 precursor 0 Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197) TCAGCACAGGGGTGGGGACAT 0.537 NA 20 8 2.21704e-12 2.82089e-12 0.00278 1 0 NLRP10 338322 broad.mit.edu 37 11 7982249 7982249 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:7982249G>T uc001mfv.1 - 2 927 c.910C>A c.(910-912)CTG>ATG p.L304M NM_176821 NP_789791 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 304 NACHT. ATP binding lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1) 9 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GCTTGTTTCAGCAAGGGCTCC 0.552 NA 83 19 2.35699e-46 4.24433e-46 0.00361 1 0 SWAP70 23075 broad.mit.edu 37 11 9749606 9749606 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:9749606A>G uc001mhw.2 + 5 748 c.649A>G c.(649-651)ATG>GTG p.M217V SWAP70_uc001mhv.2_Missense_Mutation_p.M217V|SWAP70_uc001mhx.2_Missense_Mutation_p.M159V NM_015055 NP_055870 Q9UH65 SWP70_HUMAN SWAP-70 protein 217 PH. cytoplasm|lamellipodium|nucleus|plasma membrane calcium ion binding|DNA binding ovary(2)|central_nervous_system(1) 3 all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649) ACAGGGTTACATGATGAAAAA 0.338 NA 27 1 0 0 0.004656 0 0 INSC 387755 broad.mit.edu 37 11 15197325 15197325 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:15197325T>A uc001mly.2 + 3 282 c.236T>A c.(235-237)ATG>AAG p.M79K INSC_uc001mlz.2_Missense_Mutation_p.M32K|INSC_uc001mma.2_Missense_Mutation_p.M32K|INSC_uc010rcs.1_Missense_Mutation_p.M32K|INSC_uc001mmb.2_Missense_Mutation_p.M32K|INSC_uc001mmc.2_Missense_Mutation_p.M32K NM_001031853 NP_001027024 Q1MX18 INSC_HUMAN inscuteable isoform a 79 cell differentiation|nervous system development cytoplasm binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1) 5 CAGCGCTGGATGGAAGATCTG 0.537 NA 22 9 0 0 0.00278 0 0 ABCC8 6833 broad.mit.edu 37 11 17485047 17485047 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:17485047C>A uc001mnc.2 - 4 643 c.517G>T c.(517-519)GGG>TGG p.G173W ABCC8_uc010rcy.1_Missense_Mutation_p.G173W NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 173 Helical; Name=5; (By similarity). carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) ACCAGCAGCCCTGTGAGGCAG 0.582 NA 9 0 0.000274275 0.000290021 0.004482 1 0 TSG101 7251 broad.mit.edu 37 11 18528444 18528444 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:18528444C>T uc001mor.2 - 6 634 c.508G>A c.(508-510)GGA>AGA p.G170R TSG101_uc001mos.1_Missense_Mutation_p.G118R|TSG101_uc009yhs.1_RNA NM_006292 NP_006283 Q99816 TS101_HUMAN tumor susceptibility gene 101 170 cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding 0 GGAGAGATTCCACCTGGCATG 0.353 GBM(99;1348 1396 8611 26475 50572) NA 18 32 0 0 0.002299 0 0 IGSF22 283284 broad.mit.edu 37 11 18731902 18731902 + Silent SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:18731902G>C uc009yht.2 - 17 2863 c.2673C>G c.(2671-2673)TCC>TCG p.S891S IGSF22_uc001mpa.2_RNA NM_173588 NP_775859 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ovary(4)|large_intestine(2)|kidney(1) 7 CTACTGAGCTGGATGGCACAC 0.493 NA 67 20 0 0 0.00361 0 0 IGSF22 283284 broad.mit.edu 37 11 18740226 18740226 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:18740226G>T uc009yht.2 - 8 936 c.746C>A c.(745-747)ACC>AAC p.T249N IGSF22_uc001mpa.2_RNA NM_173588 NP_775859 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 249 Ig-like 2. ovary(4)|large_intestine(2)|kidney(1) 7 GACCACTGTGGTGTCAACCTT 0.478 NA 125 32 3.78446e-69 7.05801e-69 0.00361 1 0 ANO3 63982 broad.mit.edu 37 11 26556081 26556081 + Silent SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:26556081C>G uc001mqt.3 + 9 1093 c.948C>G c.(946-948)ACC>ACG p.T316T ANO3_uc010rdr.1_Silent_p.T300T|ANO3_uc010rds.1_Silent_p.T155T|ANO3_uc010rdt.1_Silent_p.T170T NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 316 Cytoplasmic (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 TGGAACGCACCAAATATGAAA 0.323 NA 43 8 0 0 0.00361 0 0 ANO3 63982 broad.mit.edu 37 11 26664763 26664763 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:26664763G>T uc001mqt.3 + 23 2455 c.2310G>T c.(2308-2310)GCG>GCT p.A770A ANO3_uc010rdr.1_Silent_p.A754A|ANO3_uc010rds.1_Silent_p.A609A|ANO3_uc010rdt.1_Silent_p.A624A NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 770 Helical; (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 TCTTTGTTGCGGCTTTTCCTC 0.368 NA 33 12 4.90274e-10 5.9485e-10 0.00623 1 0 KCNA4 3739 broad.mit.edu 37 11 30033117 30033117 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:30033117G>T uc001msk.2 - 2 2261 c.1109C>A c.(1108-1110)CCC>CAC p.P370H NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 370 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 GATGAAGAAGGGGTCATTGAA 0.478 NA 36 3 2.48696e-23 3.83861e-23 0.003271 1 0 MPPED2 744 broad.mit.edu 37 11 30601890 30601890 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:30601890C>A uc001msr.2 - 1 151 c.31G>T c.(31-33)GTT>TTT p.V11F MPPED2_uc001msq.3_Missense_Mutation_p.V11F|MPPED2_uc009yji.2_5'UTR NM_001584 NP_001575 Q15777 MPPD2_HUMAN metallophosphoesterase domain containing 2 11 nervous system development hydrolase activity|metal ion binding skin(1) 1 GTTATGGTAACTTTGCCTTGA 0.478 NA 42 8 4.44401e-20 6.55085e-20 0.002522 1 0 LRRC4C 57689 broad.mit.edu 37 11 40137665 40137665 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:40137665C>A uc001mxa.1 - 2 2142 c.178G>T c.(178-180)GTG>TTG p.V60L LRRC4C_uc001mxc.1_Missense_Mutation_p.V56L|LRRC4C_uc001mxd.1_Missense_Mutation_p.V56L|LRRC4C_uc001mxb.1_Missense_Mutation_p.V56L NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 60 LRRNT. regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) ACACAAATCACCTTGCTGAAC 0.542 NA 16 21 2.23348e-06 2.47965e-06 0.004007 1 0 PHF21A 51317 broad.mit.edu 37 11 45992717 45992717 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:45992717C>A uc001ncc.3 - 7 1186 c.562G>T c.(562-564)GGG>TGG p.G188W PHF21A_uc001ncb.3_Missense_Mutation_p.G188W|PHF21A_uc009ykx.2_Missense_Mutation_p.G188W|PHF21A_uc001nce.2_Missense_Mutation_p.G188W|PHF21A_uc001nca.1_5'UTR NM_001101802 NP_001095272 Q96BD5 PF21A_HUMAN BRAF35/HDAC2 complex isoform a 188 blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 GCCCCAGGCCCAGTGACCTTA 0.512 NA 41 6 9.9191e-30 1.64949e-29 0.00874 1 0 HARBI1 283254 broad.mit.edu 37 11 46625147 46625147 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:46625147T>C uc001ncy.2 - 3 1231 c.983A>G c.(982-984)CAC>CGC p.H328R NM_173811 NP_776172 Q96MB7 HARB1_HUMAN harbinger transposase derived 1 328 cytoplasm|nucleus metal ion binding|nuclease activity 0 GGACTCCATGTGCTCATACTC 0.522 NA 50 12 0 0 0.00361 0 0 ACP2 53 broad.mit.edu 37 11 47269242 47269242 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:47269242G>C uc001nei.2 - 3 364 c.247C>G c.(247-249)CTG>GTG p.L83V ACP2_uc010rhe.1_Missense_Mutation_p.L55V|ACP2_uc009ylj.2_Missense_Mutation_p.L11V|ACP2_uc010rhf.1_Missense_Mutation_p.L51V|ACP2_uc010rhg.1_Missense_Mutation_p.L83V|ACP2_uc010rhh.1_5'UTR|ACP2_uc010rhi.1_5'UTR|ACP2_uc009ylk.2_Missense_Mutation_p.L83V|ACP2_uc010rhj.1_Missense_Mutation_p.L83V|NR1H3_uc009yll.1_5'Flank|NR1H3_uc010rhk.1_5'Flank|NR1H3_uc001nek.2_5'Flank|NR1H3_uc001nej.2_5'Flank|NR1H3_uc001nel.2_5'Flank NM_001610 NP_001601 P11117 PPAL_HUMAN acid phosphatase 2, lysosomal isoform 1 83 Lumenal (Potential). integral to membrane|lysosomal lumen|lysosomal membrane acid phosphatase activity ovary(1) 1 CGCTGCCGCAGGGCCTGGCCC 0.592 Melanoma(90;262 1440 11488 44828 48531) NA 18 42 0 0 0.008871 0 0 MYBPC3 4607 broad.mit.edu 37 11 47364673 47364673 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:47364673G>A uc001nfa.3 - 14 1305 c.1250C>T c.(1249-1251)GCC>GTC p.A417V MYBPC3_uc010rhl.1_RNA NM_000256 NP_000247 Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 416 Ig-like C2-type 2. A -> S (in CMH4). cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding ovary(2)|central_nervous_system(1) 3 Lung(87;0.176) GGTACGCTTGGCACCGATGGA 0.617 NA 11 0 0 0 0.001855 0 0 FNBP4 23360 broad.mit.edu 37 11 47772725 47772725 + Missense_Mutation SNP T T G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:47772725T>G uc009ylv.2 - 5 908 c.755A>C c.(754-756)CAG>CCG p.Q252P FNBP4_uc001ngj.2_Missense_Mutation_p.Q159P|FNBP4_uc001ngl.2_RNA NM_015308 NP_056123 Q8N3X1 FNBP4_HUMAN formin binding protein 4 252 ovary(1) 1 TCCCTGTACCTGTGTGGCAAG 0.388 NA 58 11 0 0 0.00361 0 0 OR4B1 119765 broad.mit.edu 37 11 48238445 48238445 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:48238445G>T uc010rhs.1 + 1 84 c.84G>T c.(82-84)GTG>GTT p.V28V NM_001005470 NP_001005470 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, 28 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|pancreas(1) 4 GCTTTGTGGTGTTTCTCCCCG 0.493 NA 90 18 2.41567e-30 4.03445e-30 0.00361 1 0 OR4X2 119764 broad.mit.edu 37 11 48267347 48267347 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:48267347C>A uc001ngs.1 + 1 692 c.692C>A c.(691-693)ACC>AAC p.T231N NM_001004727 NP_001004727 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, 231 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GCCCTCTCCACCTGTGGGTCC 0.522 NA 50 9 5.73435e-26 9.20351e-26 0.00361 1 0 FOLH1 2346 broad.mit.edu 37 11 49175458 49175458 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:49175458T>C uc001ngy.2 - 17 2171 c.1910A>G c.(1909-1911)AAG>AGG p.K637R FOLH1_uc001ngx.2_Missense_Mutation_p.K69R|FOLH1_uc001ngz.2_Missense_Mutation_p.K637R|FOLH1_uc009yly.2_Missense_Mutation_p.K622R|FOLH1_uc009ylz.2_Missense_Mutation_p.K622R|FOLH1_uc009yma.2_Missense_Mutation_p.K329R NM_004476 NP_004467 Q04609 FOLH1_HUMAN folate hydrolase 1 isoform 1 637 Extracellular (Probable). proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity large_intestine(1)|ovary(1)|skin(1) 3 Capromab(DB00089)|L-Glutamic Acid(DB00142) TGTAAAATTCTTTACTGCAGA 0.284 NA 9 36 0 0 0.004482 0 0 LOC440040 440040 broad.mit.edu 37 11 49598110 49598110 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:49598110G>T uc010rhy.1 + 2 701 c.223G>T c.(223-225)GCC>TCC p.A75S LOC440040_uc009ymb.2_Missense_Mutation_p.A75S NR_027044 SubName: Full=cDNA FLJ60249, highly similar to Metabotropic glutamate receptor 5; 0 TTCGGCTGTGGCCCTAGAGCA 0.522 NA 10 14 0.000442599 0.000466224 0.006214 1 0 LOC440040 440040 broad.mit.edu 37 11 49598375 49598375 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:49598375C>A uc010rhy.1 + 2 966 c.488C>A c.(487-489)CCT>CAT p.P163H LOC440040_uc009ymb.2_Missense_Mutation_p.P163H NR_027044 SubName: Full=cDNA FLJ60249, highly similar to Metabotropic glutamate receptor 5; 0 AGGGTTGTGCCTTCAGATGCT 0.453 NA 29 32 1.39806e-14 1.85576e-14 0.008361 1 0 OR4A5 81318 broad.mit.edu 37 11 51411670 51411670 + Silent SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:51411670G>C uc001nhi.1 - 1 726 c.726C>G c.(724-726)ACC>ACG p.T242T NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, 242 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T242T(1) ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(304;0.236) GGACAACAACGGTACTGCCGG 0.398 NA 32 13 0 0 0.002445 0 0 TRIM48 79097 broad.mit.edu 37 11 55032418 55032418 + Silent SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:55032418C>G uc010rid.1 + 2 173 c.87C>G c.(85-87)CTC>CTG p.L29L NM_024114 NP_077019 Q8IWZ4 TRI48_HUMAN tripartite motif-containing 48 13 intracellular zinc ion binding 0 AGAGGGAACTCACCTGCCCCA 0.488 NA 79 224 0 0 0.00361 0 0 OR4C15 81309 broad.mit.edu 37 11 55322199 55322199 + Silent SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:55322199C>G uc010rig.1 + 1 417 c.417C>G c.(415-417)CTC>CTG p.L139L NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, 85 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TAGACTCCCTCTATGTGACAA 0.488 NA HNSCC(20;0.049) 49 128 0 0 0.00361 0 0 OR4C15 81309 broad.mit.edu 37 11 55322684 55322684 + Missense_Mutation SNP T T G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:55322684T>G uc010rig.1 + 1 902 c.902T>G c.(901-903)ATT>AGT p.I301S NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, 247 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GCTGTTGTGATTTTGTTCTTT 0.428 NA HNSCC(20;0.049) 42 112 0 0 0.00874 0 0 OR4P4 81300 broad.mit.edu 37 11 55406660 55406660 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:55406660T>C uc010rij.1 + 1 827 c.827T>C c.(826-828)ATT>ACT p.I276T NM_001004124 NP_001004124 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, 276 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 TATACCATCATTGCTCCCATG 0.398 NA 11 66 0 0 0.000978 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735354 55735354 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:55735354C>A uc010rit.1 - 1 586 c.586G>T c.(586-588)GTG>TTG p.V196L NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, 196 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.0137) GTGATAAACACCACCGCTACT 0.383 NA 17 19 3.45872e-05 3.74953e-05 0.004007 1 0 OR8H3 390152 broad.mit.edu 37 11 55890462 55890462 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:55890462C>A uc001nii.1 + 1 614 c.614C>A c.(613-615)TCC>TAC p.S205Y NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, 205 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00693) ATCGCTGGTTCCACCCTGATG 0.408 NA 65 66 2.54232e-27 4.13527e-27 0.00361 1 0 OR8J3 81168 broad.mit.edu 37 11 55904345 55904345 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:55904345T>C uc010riz.1 - 1 850 c.850A>G c.(850-852)ATG>GTG p.M284V NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 284 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) GGATTCAGCATAGGAATCACC 0.363 NA 24 57 0 0 0.002299 0 0 OR5R1 219479 broad.mit.edu 37 11 56185423 56185423 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:56185423C>G uc010rji.1 - 1 286 c.286G>C c.(286-288)GCT>CCT p.A96P NM_001004744 NP_001004744 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, 96 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) GTTGCACAAGCATGGAAAGGA 0.478 NA 9 34 0 0 0.006214 0 0 OR5R1 219479 broad.mit.edu 37 11 56185700 56185700 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:56185700T>A uc010rji.1 - 1 9 c.9A>T c.(7-9)GAA>GAT p.E3D NM_001004744 NP_001004744 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, 3 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) TGATATTAACTTCAGCCATTT 0.388 NA 29 66 0 0 0.008361 0 0 OR5M9 390162 broad.mit.edu 37 11 56230457 56230457 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:56230457G>T uc010rjj.1 - 1 421 c.421C>A c.(421-423)CGG>AGG p.R141R NM_001004743 NP_001004743 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, 141 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) GAGATGAGCCGAACACACACA 0.458 NA 34 26 1.836e-18 2.63219e-18 0.003755 1 0 OR5M8 219484 broad.mit.edu 37 11 56258458 56258458 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:56258458A>T uc001nix.1 - 1 389 c.389T>A c.(388-390)CTT>CAT p.L130H NM_001005282 NP_001005282 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, 130 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Esophageal squamous(21;0.00352) GCTGCCATAAAGCAGAGGGTT 0.517 NA 53 48 0 0 0.00361 0 0 OR5AP2 338675 broad.mit.edu 37 11 56409178 56409178 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:56409178G>A uc001njb.1 - 1 738 c.738C>T c.(736-738)ACC>ACT p.T246T NM_001002925 NP_001002925 Q8NGF4 O5AP2_HUMAN olfactory receptor, family 5, subfamily AP, 246 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 AAGAGGCACAGGTGGAGAAGG 0.468 NA 61 38 0 0 0.00361 0 0 SMTNL1 219537 broad.mit.edu 37 11 57310583 57310583 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:57310583C>A uc009ymh.1 + 2 522 c.522C>A c.(520-522)GAC>GAA p.D174E NM_001105565 NP_001099035 E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 156 ovary(1) 1 ATGCCAATGACAGAGACAAGC 0.552 NA 12 12 7.03913e-09 8.36735e-09 0.001368 1 0 OR9I1 219954 broad.mit.edu 37 11 57886019 57886019 + Missense_Mutation SNP C C A rs147763350 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:57886019C>A uc001nml.1 - 1 898 c.898G>T c.(898-900)GCC>TCC p.A300S OR9Q1_uc001nmj.2_Intron NM_001005211 NP_001005211 Q8NGQ6 OR9I1_HUMAN olfactory receptor, family 9, subfamily I, 300 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Breast(21;0.0589) TTTCTGAAGGCGTCTTTTACA 0.428 NA 44 124 1.00776e-21 1.52623e-21 0.00361 1 0 OR5B17 219965 broad.mit.edu 37 11 58126271 58126271 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:58126271G>T uc010rke.1 - 1 272 c.272C>A c.(271-273)TCC>TAC p.S91Y NM_001005489 NP_001005489 Q8NGF7 OR5BH_HUMAN olfactory receptor, family 5, subfamily B, 91 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) GGCACTGTAGGAGATGGCTTT 0.463 NA 34 16 5.91797e-21 8.87925e-21 0.002445 1 0 OR5B3 441608 broad.mit.edu 37 11 58170323 58170323 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:58170323C>A uc010rkf.1 - 1 560 c.560G>T c.(559-561)TGC>TTC p.C187F NM_001005469 NP_001005469 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, 187 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(5;0.0027) Breast(21;0.0778) TCTATCAGAGCAAGAGAGAAC 0.388 NA 45 18 4.44401e-20 6.55085e-20 0.002522 1 0 OR5B21 219968 broad.mit.edu 37 11 58274827 58274827 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:58274827G>T uc010rki.1 - 1 752 c.752C>A c.(751-753)ACA>AAA p.T251K NM_001005218 NP_001005218 A6NL26 OR5BL_HUMAN olfactory receptor, family 5, subfamily B, 251 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) GAAGATGATTGTGCCATAGAA 0.473 NA 24 60 3.01185e-09 3.59563e-09 0.003954 1 0 LPXN 9404 broad.mit.edu 37 11 58317280 58317280 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:58317280C>T uc001nmw.2 - 7 866 c.721G>A c.(721-723)GGA>AGA p.G241R LPXN_uc009ymp.2_Missense_Mutation_p.G111R|LPXN_uc010rkj.1_Missense_Mutation_p.G246R|LPXN_uc010rkk.1_Missense_Mutation_p.G221R NM_004811 NP_004802 O60711 LPXN_HUMAN leupaxin isoform 2 241 LIM zinc-binding 2. cell adhesion|protein complex assembly|signal transduction cytoplasm zinc ion binding ovary(1) 1 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) AACACCTCTCCGCAGTGAGAG 0.498 NA 13 18 0 0 0.003163 0 0 FAM111A 63901 broad.mit.edu 37 11 58919341 58919341 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:58919341C>T uc010rkp.1 + 5 427 c.200C>T c.(199-201)CCA>CTA p.P67L FAM111A_uc010rkq.1_Missense_Mutation_p.P67L|FAM111A_uc010rkr.1_Missense_Mutation_p.P67L|FAM111A_uc001nno.2_Missense_Mutation_p.P67L|FAM111A_uc001nnp.2_Missense_Mutation_p.P67L|FAM111A_uc001nnq.2_Missense_Mutation_p.P67L NM_001142521 NP_001135993 Q96PZ2 F111A_HUMAN hypothetical protein LOC63901 67 proteolysis serine-type endopeptidase activity ovary(3) 3 all_epithelial(135;0.139) AAGAAAAATCCAGAAGACCAG 0.408 NA 35 94 0 0 0.004878 0 0 OR4D11 219986 broad.mit.edu 37 11 59271521 59271521 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:59271521T>A uc001noa.1 + 1 473 c.473T>A c.(472-474)GTG>GAG p.V158E NM_001004706 NP_001004706 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, 158 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CACTCCATCGTGCAGATCTCC 0.547 NA 117 86 0 0 0.00361 0 0 OR10V1 390201 broad.mit.edu 37 11 59480963 59480963 + Missense_Mutation SNP A A C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:59480963A>C uc001nof.1 - 1 356 c.356T>G c.(355-357)ATG>AGG p.M119R NM_001005324 NP_001005324 Q8NGI7 O10V1_HUMAN olfactory receptor, family 10, subfamily V, 119 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GTCATAAGCCATGACTACCAG 0.512 NA 15 21 0 0 0.002445 0 0 OR10V1 390201 broad.mit.edu 37 11 59480965 59480965 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:59480965G>T uc001nof.1 - 1 354 c.354C>A c.(352-354)GTC>GTA p.V118V NM_001005324 NP_001005324 Q8NGI7 O10V1_HUMAN olfactory receptor, family 10, subfamily V, 118 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CATAAGCCATGACTACCAGCA 0.512 NA 15 21 7.11191e-15 9.49891e-15 0.002836 1 0 MS4A4A 51338 broad.mit.edu 37 11 60064772 60064772 + Missense_Mutation SNP G G T rs140018712 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:60064772G>T uc001noz.2 + 3 314 c.304G>T c.(304-306)GGG>TGG p.G102W MS4A4A_uc001npa.2_Missense_Mutation_p.G83W|MS4A4A_uc001npb.2_Missense_Mutation_p.G83W|MS4A4A_uc001npc.2_Missense_Mutation_p.G83W NM_148975 NP_683876 Q96JQ5 M4A4A_HUMAN membrane-spanning 4-domains, subfamily A, member 102 Helical; (Potential). integral to membrane receptor activity 0 CGTGTATATCGGGTACACAAT 0.388 NA 35 21 8.73648e-17 1.21034e-16 0.004289 1 0 C11orf9 745 broad.mit.edu 37 11 61553285 61553285 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:61553285G>A uc001nsc.1 + 26 3410 c.3314G>A c.(3313-3315)CGG>CAG p.R1105Q C11orf9_uc001nse.1_Missense_Mutation_p.R1065Q|C11orf9_uc010rll.1_Missense_Mutation_p.R491Q NM_001127392 NP_001120864 Q9Y2G1 MRF_HUMAN myelin gene regulatory factor isoform 2 1105 central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 ACCTCTCACCGGTGGCCAATA 0.617 NA 26 60 0 0 0.00632 0 0 AHNAK 79026 broad.mit.edu 37 11 62284959 62284959 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:62284959C>A uc001ntl.2 - 5 17230 c.16930G>T c.(16930-16932)GGG>TGG p.G5644W AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 5644 Gly-rich. nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) CCTTGAGGCCCAGACACACTC 0.502 NA 52 105 1.35964e-18 1.9565e-18 0.00361 1 0 NRXN2 9379 broad.mit.edu 37 11 64434732 64434732 + Silent SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:64434732A>G uc001oar.2 - 10 2227 c.1788T>C c.(1786-1788)GAT>GAC p.D596D NRXN2_uc001oas.2_Silent_p.D565D|NRXN2_uc001oaq.2_Silent_p.D263D NM_015080 NP_055895 P58401 NRX2B_HUMAN neurexin 2 isoform alpha-1 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 CTTTTCGCCCATCCCTCTGGA 0.592 NA 16 47 0 0 0.003163 0 0 PYGM 5837 broad.mit.edu 37 11 64525786 64525786 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:64525786C>A uc001oax.3 - 4 1277 c.460G>T c.(460-462)GCC>TCC p.A154S PYGM_uc001oay.3_Intron NM_005609 NP_005600 P11217 PYGM_HUMAN muscle glycogen phosphorylase isoform 1 154 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding ovary(2) 2 Pyridoxal Phosphate(DB00114) CCATAGGCGGCCAGGCCCAGT 0.602 NA 87 60 3.59392e-34 6.15646e-34 0.00361 1 0 ATG2A 23130 broad.mit.edu 37 11 64676542 64676542 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:64676542G>A uc001obx.2 - 16 2400 c.2285C>T c.(2284-2286)TCA>TTA p.S762L NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN autophagy related 2A 762 protein binding ovary(1)|central_nervous_system(1) 2 ACTCTCCACTGACAGCTCCAG 0.622 NA 19 36 0 0 0.007413 0 0 PPP2R5B 5526 broad.mit.edu 37 11 64695896 64695896 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:64695896C>T uc001oby.2 + 6 1306 c.721C>T c.(721-723)CGG>TGG p.R241W PPP2R5B_uc001obz.2_Missense_Mutation_p.R241W NM_006244 NP_006235 Q15173 2A5B_HUMAN beta isoform of regulatory subunit B56, protein 241 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity ovary(2) 2 CATCTTCCTCCGGTGAGTGGC 0.517 NA 63 43 0 0 0.00361 0 0 BATF2 116071 broad.mit.edu 37 11 64756939 64756939 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:64756939C>T uc001ocf.1 - 3 618 c.487G>A c.(487-489)GTT>ATT p.V163I BATF2_uc001oce.1_Missense_Mutation_p.V78I NM_138456 NP_612465 Q8N1L9 BATF2_HUMAN basic leucine zipper transcription factor, 163 nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GGTTCAGCAACCACAGCGGGG 0.632 NA 20 8 0 0 0.007413 0 0 SPDYC 387778 broad.mit.edu 37 11 64938797 64938797 + Splice_Site SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:64938797G>T uc010rnz.1 + 2 27 c.27_splice c.e2-1 p.G9_splice NM_001008778 NP_001008778 Q5MJ68 SPDYC_HUMAN speedy C cell cycle nucleus protein kinase binding 0 TTTCTCTACAGGTCACCCTGC 0.592 NA 62 138 5.10652e-33 8.70133e-33 0.00361 1 0 POLA2 23649 broad.mit.edu 37 11 65055292 65055292 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:65055292G>T uc001odj.2 + 11 1454 c.1112G>T c.(1111-1113)CGG>CTG p.R371L POLA2_uc010rod.1_Missense_Mutation_p.R163L|POLA2_uc001odk.2_Missense_Mutation_p.R68L NM_002689 NP_002680 Q14181 DPOA2_HUMAN DNA-directed DNA polymerase alpha 2 371 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding 0 Dacarbazine(DB00851) AACCATGACCGGCCAGATGTC 0.493 NA 29 18 5.91797e-21 8.87925e-21 0.002445 1 0 PCNXL3 399909 broad.mit.edu 37 11 65387346 65387346 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:65387346G>T uc001oey.2 + 8 1951 c.1951G>T c.(1951-1953)GCC>TCC p.A651S NM_032223 NP_115599 Q9H6A9 PCX3_HUMAN pecanex-like 3 651 integral to membrane 0 TGTGCATGAGGCCTGCACCTT 0.642 NA 8 13 0.000157383 0.000167241 0.00308 1 0 PCNXL3 399909 broad.mit.edu 37 11 65391686 65391686 + Silent SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:65391686G>C uc001oey.2 + 14 2565 c.2565G>C c.(2563-2565)GCG>GCC p.A855A PCNXL3_uc009yqn.2_5'Flank|PCNXL3_uc001oez.2_5'Flank NM_032223 NP_115599 Q9H6A9 PCX3_HUMAN pecanex-like 3 855 Helical; (Potential). integral to membrane 0 GGGTGATCGCGTACAGCCGTC 0.637 NA 6 16 0 0 0.001984 0 0 SF3B2 10992 broad.mit.edu 37 11 65826990 65826990 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:65826990A>G uc001ogy.1 + 12 1365 c.1325A>G c.(1324-1326)AAG>AGG p.K442R NM_006842 NP_006833 Q13435 SF3B2_HUMAN splicing factor 3B subunit 2 442 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(2)|breast(1) 3 TTCTAGGAAAAGAAGCCAGAA 0.502 NA 30 72 0 0 0.008361 0 0 TMEM151A 256472 broad.mit.edu 37 11 66062088 66062088 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:66062088C>A uc001ohl.2 + 2 483 c.371C>A c.(370-372)TCC>TAC p.S124Y NM_153266 NP_694998 Q8N4L1 T151A_HUMAN transmembrane protein 151A 124 integral to membrane central_nervous_system(1) 1 CACGTGCGGTCCTGCCAGGCG 0.687 NA 9 23 0.000442599 0.000466224 0.006214 1 0 TBX10 347853 broad.mit.edu 37 11 67402313 67402313 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:67402313G>A uc001omp.2 - 3 439 c.351C>T c.(349-351)TTC>TTT p.F117F NM_005995 NP_005986 O75333 TBX10_HUMAN T-box 10 117 T-box. anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 CCAGGGGGATGAAGTCCATGA 0.632 NA 25 51 0 0 0.003954 0 0 SUV420H1 51111 broad.mit.edu 37 11 67925397 67925397 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:67925397G>C uc001onm.1 - 11 2672 c.2416C>G c.(2416-2418)CTT>GTT p.L806V SUV420H1_uc009yse.1_Missense_Mutation_p.L392V|SUV420H1_uc001onn.1_Missense_Mutation_p.L634V|SUV420H1_uc009ysf.2_Missense_Mutation_p.L566V NM_017635 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 isoform 806 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(2)|kidney(1) 3 AAGAGAGAAAGAGGATCACTG 0.438 NA 140 107 0 0 0.00361 0 0 SUV420H1 51111 broad.mit.edu 37 11 67925427 67925427 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:67925427G>A uc001onm.1 - 11 2642 c.2386C>T c.(2386-2388)CAT>TAT p.H796Y SUV420H1_uc009yse.1_Missense_Mutation_p.H382Y|SUV420H1_uc001onn.1_Missense_Mutation_p.H624Y|SUV420H1_uc009ysf.2_Missense_Mutation_p.H556Y NM_017635 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 isoform 796 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(2)|kidney(1) 3 CCATTTTCATGAAGCCCCTCT 0.408 NA 154 115 0 0 0.00361 0 0 SUV420H1 51111 broad.mit.edu 37 11 67925554 67925554 + Silent SNP G G A rs146549090 byFrequency TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:67925554G>A uc001onm.1 - 11 2515 c.2259C>T c.(2257-2259)AAC>AAT p.N753N SUV420H1_uc009yse.1_Silent_p.N339N|SUV420H1_uc001onn.1_Silent_p.N581N|SUV420H1_uc009ysf.2_Silent_p.N513N NM_017635 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 isoform 753 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(2)|kidney(1) 3 GATTGTTATCGTTGTCATGGT 0.363 NA 106 96 0 0 0.00361 0 0 SUV420H1 51111 broad.mit.edu 37 11 67925786 67925786 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:67925786G>A uc001onm.1 - 11 2283 c.2027C>T c.(2026-2028)TCA>TTA p.S676L SUV420H1_uc009yse.1_Missense_Mutation_p.S262L|SUV420H1_uc001onn.1_Missense_Mutation_p.S504L|SUV420H1_uc009ysf.2_Missense_Mutation_p.S436L NM_017635 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 isoform 676 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(2)|kidney(1) 3 TGTCACAACTGAACAACCGAC 0.473 NA 36 26 0 0 0.003271 0 0 SUV420H1 51111 broad.mit.edu 37 11 67926066 67926066 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:67926066G>T uc001onm.1 - 11 2003 c.1747C>A c.(1747-1749)CCT>ACT p.P583T SUV420H1_uc009yse.1_Missense_Mutation_p.P169T|SUV420H1_uc001onn.1_Missense_Mutation_p.P411T|SUV420H1_uc009ysf.2_Missense_Mutation_p.P343T NM_017635 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 isoform 583 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(2)|kidney(1) 3 TGCAGCACAGGAGCTGGCTGC 0.507 NA 89 53 7.68447e-34 1.3152e-33 0.00361 1 0 SUV420H1 51111 broad.mit.edu 37 11 67926533 67926533 + Missense_Mutation SNP G G C rs71459689 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:67926533G>C uc001onm.1 - 11 1536 c.1280C>G c.(1279-1281)TCT>TGT p.S427C SUV420H1_uc009yse.1_Missense_Mutation_p.S13C|SUV420H1_uc001onn.1_Missense_Mutation_p.S255C|SUV420H1_uc009ysf.2_Missense_Mutation_p.S187C NM_017635 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 isoform 427 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(2)|kidney(1) 3 AGTTAGCTTAGATGAGGTAGA 0.378 NA 43 31 0 0 0.002522 0 0 SUV420H1 51111 broad.mit.edu 37 11 67926536 67926536 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:67926536G>A uc001onm.1 - 11 1533 c.1277C>T c.(1276-1278)TCA>TTA p.S426L SUV420H1_uc009yse.1_Missense_Mutation_p.S12L|SUV420H1_uc001onn.1_Missense_Mutation_p.S254L|SUV420H1_uc009ysf.2_Missense_Mutation_p.S186L NM_017635 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 isoform 426 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(2)|kidney(1) 3 TAGCTTAGATGAGGTAGAGTT 0.368 NA 41 31 0 0 0.007835 0 0 MYEOV 26579 broad.mit.edu 37 11 69063426 69063426 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:69063426G>T uc001oov.2 + 3 959 c.509G>T c.(508-510)AGA>ATA p.R170I MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Missense_Mutation_p.R170I|MYEOV_uc001oow.2_Missense_Mutation_p.R112I NM_138768 NP_620123 Q96EZ4 MYEOV_HUMAN myeloma overexpressed 170 0 all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128) LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713) Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153) GAAGCCTTTAGAGTGGGCGTT 0.582 NA 69 184 5.22007e-41 9.25354e-41 0.00361 1 0 FGF4 2249 broad.mit.edu 37 11 69589549 69589549 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:69589549C>A uc001opg.1 - 1 623 c.304G>T c.(304-306)GGC>TGC p.G102C FGF4_uc010rqj.1_Missense_Mutation_p.G102C NM_002007 NP_001998 P08620 FGF4_HUMAN fibroblast growth factor 4 precursor 102 cell-cell signaling|chondroblast differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade extracellular region growth factor activity|heparin binding 0 Melanoma(5;1.89e-05) LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278) Pentosan Polysulfate(DB00686) CCGATGCGGCCGTCGGGGAGC 0.771 NA 4 2 1.23904e-05 1.35614e-05 0.000602 1 0 PPFIA1 8500 broad.mit.edu 37 11 70171001 70171001 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:70171001C>G uc001opo.2 + 4 613 c.415C>G c.(415-417)CTT>GTT p.L139V PPFIA1_uc001opn.1_Missense_Mutation_p.L139V|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_5'Flank NM_003626 NP_003617 Q13136 LIPA1_HUMAN PTPRF interacting protein alpha 1 isoform b 139 Potential. cell-matrix adhesion cytoplasm protein binding|signal transducer activity lung(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) TGAGCGGTCTCTTAGGATGAC 0.448 NA 56 145 0 0 0.00361 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73071371 73071371 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:73071371G>T uc001otu.2 + 11 4234 c.4213G>T c.(4213-4215)GAC>TAC p.D1405Y NM_014786 NP_055601 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1405 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity 0 ACAGAGCCTGGACGATGCACT 0.637 NA 30 100 5.97227e-30 9.94007e-30 0.002096 1 0 CHRDL2 25884 broad.mit.edu 37 11 74413894 74413894 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:74413894G>T uc001ovi.2 - 9 1318 c.1065C>A c.(1063-1065)GCC>GCA p.A355A CHRDL2_uc001ovg.2_Silent_p.A239A|CHRDL2_uc001ovh.2_Silent_p.A355A|CHRDL2_uc001ovj.1_RNA|CHRDL2_uc001ovk.1_Silent_p.A290A Q6WN34 CRDL2_HUMAN RecName: Full=Chordin-like protein 2; AltName: Full=Chordin-related protein 2; AltName: Full=Breast tumor novel factor 1; Short=BNF-1; Flags: Precursor; 355 cartilage development|cell differentiation|ossification extracellular region|mitochondrion 0 Hepatocellular(1;0.098) CGTGTTCCAGGGCAAAGCGAC 0.612 NA OREG0021223 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 37 3.33393e-15 4.49953e-15 0.004878 1 0 MAP6 4135 broad.mit.edu 37 11 75298606 75298606 + Missense_Mutation SNP G G A rs140994962 byFrequency TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:75298606G>A uc001owu.2 - 4 2005 c.1940C>T c.(1939-1941)CCG>CTG p.P647L NM_033063 NP_149052 Q96JE9 MAP6_HUMAN microtubule-associated protein 6 isoform 1 647 Pro-rich. Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding 0 Ovarian(111;0.11) TTCATCCTTCGGATGCTCTGG 0.517 Esophageal Squamous(181;1115 2007 8647 17065 22697) NA 103 68 0 0 0.00361 0 0 OMP 4975 broad.mit.edu 37 11 76814343 76814343 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:76814343A>G uc010rsk.1 + 1 458 c.458A>G c.(457-459)AAC>AGC p.N153S CAPN5_uc001oxx.2_Intron|CAPN5_uc009yup.2_Intron|CAPN5_uc009yuq.2_Intron|CAPN5_uc001oxy.2_Intron NM_006189 NP_006180 P47874 OMP_HUMAN olfactory marker protein 153 sensory perception of smell|synaptic transmission 0 GAGCCCGCCAACCTCAAGGCC 0.632 NA 70 49 0 0 0.00361 0 0 ODZ4 26011 broad.mit.edu 37 11 78383237 78383237 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:78383237G>T uc001ozl.3 - 31 6097 c.5634C>A c.(5632-5634)AGC>AGA p.S1878R ODZ4_uc001ozk.3_Missense_Mutation_p.S103R|ODZ4_uc009yvb.1_Missense_Mutation_p.S462R NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 1878 Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 CATTCAGCCTGCTGCTGGGTG 0.577 NA 14 38 6.31663e-08 7.33275e-08 0.003163 1 0 SYTL2 54843 broad.mit.edu 37 11 85438967 85438967 + Silent SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:85438967T>A uc010rth.1 - 7 1707 c.1431A>T c.(1429-1431)CCA>CCT p.P477P SYTL2_uc010rtg.1_Silent_p.P478P|SYTL2_uc010rti.1_Silent_p.P477P|SYTL2_uc010rtj.1_Silent_p.P429P|SYTL2_uc009yvj.2_5'Flank|SYTL2_uc001pbd.2_5'Flank|SYTL2_uc001pbb.2_5'Flank|SYTL2_uc001pbc.2_5'Flank|SYTL2_uc010rtf.1_Silent_p.P335P NM_001162951 NP_001156423 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 isoform g 477 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding ovary(2)|large_intestine(1) 3 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) AACTGCCACCTGGCACCTGAG 0.448 NA 10 26 0 0 0.008291 0 0 CCDC81 60494 broad.mit.edu 37 11 86126174 86126174 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:86126174G>T uc001pbx.1 + 13 1938 c.1510G>T c.(1510-1512)GAC>TAC p.D504Y CCDC81_uc001pbw.1_Missense_Mutation_p.D414Y|CCDC81_uc010rtq.1_Missense_Mutation_p.D287Y|CCDC81_uc001pby.1_Missense_Mutation_p.D239Y NM_001156474 NP_001149946 Q6ZN84 CCD81_HUMAN coiled-coil domain containing 81 isoform 1 504 skin(1) 1 Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535) CTTTGAGCCAGACTCCTCTGA 0.453 NA 41 27 1.06522e-23 1.65872e-23 0.003214 1 0 GRM5 2915 broad.mit.edu 37 11 88300288 88300288 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:88300288C>T uc001pcq.2 - 7 2763 c.2563G>A c.(2563-2565)GCA>ACA p.A855T GRM5_uc009yvm.2_Missense_Mutation_p.A855T NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 855 Cytoplasmic (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) CTGCTGGCTGCGGAGGATGAC 0.567 NA 26 64 0 0 0.005443 0 0 FOLH1B 219595 broad.mit.edu 37 11 89431656 89431656 + Silent SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:89431656T>C uc001pda.2 + 14 1744 c.1218T>C c.(1216-1218)GAT>GAC p.D406D NM_153696 NP_710163 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B 406 proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity ovary(3)|skin(2)|central_nervous_system(1) 6 CTCTGTTTGATATTGAAAGCA 0.473 NA 52 29 0 0 0.00361 0 0 FAT3 120114 broad.mit.edu 37 11 92086518 92086518 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:92086518G>T uc001pdj.3 + 1 1257 c.1240G>T c.(1240-1242)GGT>TGT p.G414C NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 414 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATTATCTCCTGGTGAGGATGC 0.418 NA TCGA Ovarian(4;0.039) 7 30 8.12818e-05 8.70909e-05 0.001984 1 0 AMOTL1 154810 broad.mit.edu 37 11 94602374 94602374 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:94602374G>C uc001pfb.2 + 12 2670 c.2500G>C c.(2500-2502)GGG>CGG p.G834R AMOTL1_uc001pfc.2_Missense_Mutation_p.G784R NM_130847 NP_570899 Q8IY63 AMOL1_HUMAN angiomotin like 1 834 cytoplasm|tight junction identical protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) ATTGCTGCTGGGGAAGGAGCA 0.498 NA 8 23 0 0 0.008291 0 0 CNTN5 53942 broad.mit.edu 37 11 99827598 99827598 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:99827598G>T uc001pga.2 + 8 1073 c.734G>T c.(733-735)CGG>CTG p.R245L CNTN5_uc009ywv.1_Missense_Mutation_p.R245L|CNTN5_uc001pfz.2_Missense_Mutation_p.R245L|CNTN5_uc001pgb.2_Missense_Mutation_p.R171L NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 245 Ig-like C2-type 2. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) GACAGCCGGCGGTTCATCTCC 0.413 NA 14 49 6.72482e-11 8.32105e-11 0.003163 1 0 PGR 5241 broad.mit.edu 37 11 100933247 100933247 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:100933247G>A uc001pgh.2 - 4 2886 c.2143C>T c.(2143-2145)CTG>TTG p.L715L PGR_uc001pgg.2_Silent_p.L96L|PGR_uc001pgi.2_Intron|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA NM_000926 NP_000917 P06401 PRGR_HUMAN progesterone receptor 715 Steroid-binding. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding lung(1)|liver(1)|central_nervous_system(1)|pancreas(1) 4 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) AGACTTGTCAGCAAAGAACTG 0.388 Pancreas(124;2271 2354 21954 22882) NA 34 74 0 0 0.003755 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103048482 103048482 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:103048482G>T uc001pho.2 + 38 6216 c.6072G>T c.(6070-6072)ATG>ATT p.M2024I DYNC2H1_uc001phn.1_Missense_Mutation_p.M2024I|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 2024 AAA 2 (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) ATATTGACATGGACACAAGAG 0.393 NA 14 46 2.32078e-09 2.78437e-09 0.003163 1 0 GRIA4 2893 broad.mit.edu 37 11 105804547 105804547 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:105804547C>G uc001pix.2 + 14 2592 c.2146C>G c.(2146-2148)CGC>GGC p.R716G GRIA4_uc001piw.2_Missense_Mutation_p.R716G|GRIA4_uc010rvm.1_RNA|GRIA4_uc009yxl.1_RNA NM_000829 NP_000820 P48058 GRIA4_HUMAN glutamate receptor, ionotrophic, AMPA 4 isoform 716 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) AGCTCGTGTCCGCAAATCCAA 0.458 NA 7 31 0 0 0.001984 0 0 EXPH5 23086 broad.mit.edu 37 11 108382616 108382616 + Silent SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:108382616T>A uc001pkk.2 - 6 3729 c.3618A>T c.(3616-3618)TCA>TCT p.S1206S EXPH5_uc010rvy.1_Silent_p.S1018S|EXPH5_uc010rvz.1_Silent_p.S1050S|EXPH5_uc010rwa.1_Silent_p.S1130S NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 1206 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) GGTCTTCATTTGAAAGAGCAA 0.388 NA 24 62 0 0 0.00278 0 0 C11orf92 399948 broad.mit.edu 37 11 111166978 111166978 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:111166978T>A uc001pld.2 - 2 2635 c.226A>T c.(226-228)AGC>TGC p.S76C C11orf92_uc001ple.2_RNA|C11orf93_uc010rwf.1_5'Flank NM_207429 NP_997312 hypothetical protein LOC399948 lung(1) 1 CCATAAAGGCTGCTGGAGGTT 0.537 NA 17 50 0 0 0.006122 0 0 SDHD 6392 broad.mit.edu 37 11 111959687 111959687 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:111959687C>G uc001pmz.2 + 3 327 c.266C>G c.(265-267)TCT>TGT p.S89C TIMM8B_uc001pmx.2_5'Flank|TIMM8B_uc001pmy.2_5'Flank NM_003002 NP_002993 O14521 DHSD_HUMAN succinate dehydrogenase complex, subunit D 89 Mitochondrial intermembrane (By similarity). respiratory electron transport chain|transport|tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain complex II electron carrier activity|heme binding|succinate dehydrogenase activity|ubiquinone binding 0 all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515) Succinic acid(DB00139) AATCCTTGCTCTGCGATGGAC 0.507 NA Mis|N|F|S paraganglioma|pheochromocytoma Familial_Paragangliomas|Carney-Stratakis_syndrome|Cowden_syndrome 21 58 0 0 0.010504 0 0 PTS 5805 broad.mit.edu 37 11 112100953 112100953 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:112100953G>T uc001pnj.3 + 3 265 c.186G>T c.(184-186)GAG>GAT p.E62D PTS_uc009yyo.2_Intron NM_000317 NP_000308 Q03393 PTPS_HUMAN 6-pyruvoyltetrahydropterin synthase 62 cellular amino acid metabolic process|central nervous system development|tetrahydrobiopterin biosynthetic process mitochondrion 6-pyruvoyltetrahydropterin synthase activity|metal ion binding 0 all_cancers(61;2.51e-14)|all_epithelial(67;1.64e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;1.27e-06)|BRCA - Breast invasive adenocarcinoma(274;1.43e-06)|all cancers(92;2.1e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0519) TACATGGAGAGGTATGTGCAG 0.393 NA 57 37 1.42676e-28 2.35239e-28 0.00361 1 0 USP28 57646 broad.mit.edu 37 11 113670056 113670056 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:113670056G>T uc001poh.2 - 25 3173 c.3140C>A c.(3139-3141)CCA>CAA p.P1047Q USP28_uc001pog.2_Missense_Mutation_p.P723Q|USP28_uc010rwy.1_Missense_Mutation_p.P890Q|USP28_uc001poi.2_Missense_Mutation_p.P370Q NM_020886 NP_065937 Q96RU2 UBP28_HUMAN ubiquitin specific protease 28 1047 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1) 7 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) TCGAATTGTTGGAGGCTCTTT 0.463 Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765) NA 30 87 3.80469e-20 5.61701e-20 0.009535 1 0 RNF214 257160 broad.mit.edu 37 11 117153860 117153860 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:117153860G>A uc001pqt.2 + 14 2025 c.1980G>A c.(1978-1980)ATG>ATA p.M660I RNF214_uc001pqu.2_Missense_Mutation_p.M660I|RNF214_uc010rxf.1_Missense_Mutation_p.M505I NM_207343 NP_997226 Q8ND24 RN214_HUMAN ring finger protein 214 660 RING-type; atypical. zinc ion binding 0 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258) TATGTCTAATGTGCCAGAAAC 0.488 NA 20 52 0 0 0.00278 0 0 DSCAML1 57453 broad.mit.edu 37 11 117335788 117335788 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:117335788C>T uc001prh.1 - 17 3317 c.3315G>A c.(3313-3315)ACG>ACA p.T1105T NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1045 Extracellular (Potential).|Fibronectin type-III 2. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CGCTGTCCCCCGTGGCCTTCA 0.612 NA 87 63 0 0 0.00361 0 0 DSCAML1 57453 broad.mit.edu 37 11 117667871 117667871 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:117667871C>G uc001prh.1 - 1 106 c.104G>C c.(103-105)CGC>CCC p.R35P DSCAML1_uc001pri.1_Intron NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 Error:Variant_position_missing_in_Q8TD84_after_alignment axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CCGCTCAGCGCGCTCCCAGCC 0.721 NA 6 20 0 0 0.001168 0 0 FXYD6 53826 broad.mit.edu 37 11 117710519 117710519 + Nonstop_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:117710519A>G uc001pro.1 - 7 352 c.286T>C c.(286-288)TGA>CGA p.*96R FXYD6_uc001prn.1_Intron|FXYD6_uc001prp.1_Nonstop_Mutation_p.*96R|FXYD6_uc001prq.1_Nonstop_Mutation_p.*96R|FXYD6_uc001prr.1_Nonstop_Mutation_p.*96R|FXYD6_uc009yzq.1_3'UTR NM_022003 NP_071286 Q9H0Q3 FXYD6_HUMAN FXYD domain-containing ion transport regulator 6 96 integral to membrane|plasma membrane ion channel activity central_nervous_system(1)|skin(1) 2 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.89e-05)|Epithelial(105;0.00122) GCTGCACTTCAGTTCTCTGCT 0.577 NA 69 67 0 0 0.00361 0 0 AMICA1 120425 broad.mit.edu 37 11 118081211 118081211 + Nonsense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:118081211C>A uc001psk.2 - 4 589 c.415G>T c.(415-417)GAG>TAG p.E139* AMICA1_uc001psh.2_Nonsense_Mutation_p.E100*|AMICA1_uc009yzw.1_RNA|AMICA1_uc001psi.2_Nonsense_Mutation_p.E129*|AMICA1_uc001psj.2_Nonsense_Mutation_p.E139*|AMICA1_uc010rxw.1_Nonsense_Mutation_p.E100*|AMICA1_uc010rxx.1_Nonsense_Mutation_p.E139*|AMICA1_uc001psl.1_Nonsense_Mutation_p.E95* NM_001098526 NP_001091996 Q86YT9 JAML1_HUMAN adhesion molecule, interacts with CXADR antigen 139 Ig-like V-type 2.|Extracellular (Potential). blood coagulation|cell adhesion|leukocyte migration|regulation of immune response cell junction|integral to membrane ovary(1) 1 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) CCTTTGGGCTCCTCTGGAAGC 0.507 NA 27 71 7.68411e-24 1.20041e-23 0.008361 1 0 TRIM29 23650 broad.mit.edu 37 11 120008389 120008389 + Silent SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:120008389T>A uc001pwz.2 - 1 475 c.351A>T c.(349-351)CCA>CCT p.P117P TRIM29_uc001pxa.2_RNA NM_012101 NP_036233 Q14134 TRI29_HUMAN tripartite motif protein TRIM29 117 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|breast(1)|kidney(1)|skin(1) 4 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) AGGTAACGGGTGGCTTCTTGG 0.617 NA 153 166 0 0 0.00361 0 0 GRIK4 2900 broad.mit.edu 37 11 120827558 120827558 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:120827558G>T uc001pxn.2 + 16 2057 c.1770G>T c.(1768-1770)CAG>CAT p.Q590H GRIK4_uc009zav.1_Missense_Mutation_p.Q590H|GRIK4_uc009zaw.1_Missense_Mutation_p.Q590H|GRIK4_uc009zax.1_Missense_Mutation_p.Q590H NM_014619 NP_055434 Q16099 GRIK4_HUMAN glutamate receptor KA1 precursor 590 Cytoplasmic (Potential). glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|central_nervous_system(1) 3 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) TGGTGAACCAGTACTCCCTGG 0.622 NA 63 59 2.82337e-50 5.14646e-50 0.00361 1 0 GRIK4 2900 broad.mit.edu 37 11 120833380 120833380 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:120833380C>A uc001pxn.2 + 18 2543 c.2256C>A c.(2254-2256)GGC>GGA p.G752G GRIK4_uc009zav.1_Silent_p.G752G|GRIK4_uc009zaw.1_Silent_p.G752G|GRIK4_uc009zax.1_Silent_p.G752G NM_014619 NP_055434 Q16099 GRIK4_HUMAN glutamate receptor KA1 precursor 752 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|central_nervous_system(1) 3 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) ATGGGATTGGCATGCCAGTCG 0.537 NA 46 50 0.000147903 0.000157775 0.00361 1 0 SC5DL 6309 broad.mit.edu 37 11 121177947 121177947 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:121177947A>G uc001pxu.2 + 5 774 c.626A>G c.(625-627)CAT>CGT p.H209R SC5DL_uc001pxt.2_3'UTR|SC5DL_uc001pxv.2_Missense_Mutation_p.H209R NM_006918 NP_008849 O75845 SC5D_HUMAN sterol-C5-desaturase 209 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane C-5 sterol desaturase activity|iron ion binding|lathosterol oxidase activity ovary(1) 1 Breast(109;0.00328)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) OV - Ovarian serous cystadenocarcinoma(1;0.0334) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.144) ATTTCCATTCATGACGGTGAT 0.363 NA 86 117 0 0 0.00361 0 0 SORL1 6653 broad.mit.edu 37 11 121476192 121476192 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:121476192T>A uc001pxx.2 + 35 4940 c.4860T>A c.(4858-4860)GAT>GAA p.D1620E SORL1_uc010rzp.1_Missense_Mutation_p.D466E|SORL1_uc010rzq.1_Missense_Mutation_p.D235E NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 1620 Extracellular (Potential).|Fibronectin type-III 1. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1) 15 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) TGAAACCAGATACCACGTATC 0.443 NA 50 166 0 0 0.00361 0 0 OR8D4 338662 broad.mit.edu 37 11 123777827 123777827 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:123777827C>T uc010saa.1 + 1 689 c.689C>T c.(688-690)TCT>TTT p.S230F NM_001005197 NP_001005197 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, 230 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) CGCATCCACTCTAAAAAGGGC 0.433 NA 67 53 0 0 0.00361 0 0 OR8D1 283159 broad.mit.edu 37 11 124180357 124180357 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:124180357A>T uc010sag.1 - 1 306 c.306T>A c.(304-306)TTT>TTA p.F102L NM_001002917 NP_001002917 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, 102 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) CCACAAAGAAAAAGAGCTGGA 0.448 NA 15 24 0 0 0.003163 0 0 OR8D2 283160 broad.mit.edu 37 11 124189589 124189589 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:124189589A>G uc010sah.1 - 1 505 c.505T>C c.(505-507)TGT>CGT p.C169R NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, 169 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|pancreas(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) TGAGACCTACAGAATGACAAC 0.453 NA 29 68 0 0 0.005443 0 0 OR8B12 219858 broad.mit.edu 37 11 124413487 124413487 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:124413487G>T uc010sam.1 - 1 64 c.64C>A c.(64-66)CTG>ATG p.L22M NM_001005195 NP_001005195 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, 22 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|skin(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213) GGGATCCGCAGTCCCGGCTGG 0.542 NA 43 38 1.15183e-24 1.81848e-24 0.009718 1 0 ROBO3 64221 broad.mit.edu 37 11 124742393 124742393 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:124742393G>A uc001qbc.2 + 8 1467 c.1275G>A c.(1273-1275)CAG>CAA p.Q425Q NM_022370 NP_071765 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 425 Ig-like C2-type 4.|Extracellular (Potential). axon midline choice point recognition integral to membrane receptor activity breast(1)|central_nervous_system(1) 2 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) ACGTGTGCCAGGCTGTCAGTG 0.592 NA 21 28 0 0 0.010504 0 0 ACRV1 56 broad.mit.edu 37 11 125547943 125547943 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:125547943G>T uc001qcs.2 - 2 569 c.302C>A c.(301-303)ACT>AAT p.T101N ACRV1_uc001qck.2_Intron|ACRV1_uc001qcl.2_Intron|ACRV1_uc001qcm.2_Intron|ACRV1_uc001qcn.2_Missense_Mutation_p.T46N|ACRV1_uc001qco.2_Intron|ACRV1_uc001qcp.2_Intron|ACRV1_uc001qcq.2_Intron|ACRV1_uc001qcr.2_Missense_Mutation_p.T101N NM_001612 NP_001603 P26436 ASPX_HUMAN acrosomal vesicle protein 1 isoform a precursor 101 4 X 4 AA repeats of S-G-E-H. multicellular organismal development acrosomal vesicle 0 all_hematologic(175;0.177) Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713) AGCATGTTCAGTCGCAGCGGG 0.542 NA 38 120 9.8876e-21 1.47893e-20 0.004878 1 0 ARHGAP32 9743 broad.mit.edu 37 11 128839000 128839000 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:128839000C>A uc009zcp.2 - 22 6066 c.6066G>T c.(6064-6066)CAG>CAT p.Q2022H ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.Q981H|ARHGAP32_uc001qez.2_Missense_Mutation_p.Q1673H NM_001142685 NP_001136157 A7KAX9 RHG32_HUMAN Rho GTPase-activating protein isoform 1 2022 Interaction with FYN. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding lung(3)|ovary(2) 5 GGTTATCATACTGGGACACAA 0.577 NA 31 57 1.08312e-15 1.4731e-15 0.009535 1 0 APLP2 334 broad.mit.edu 37 11 130011868 130011868 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:130011868G>T uc010sby.1 + 17 2246 c.2089G>T c.(2089-2091)GGC>TGC p.G697C APLP2_uc001qfp.2_Missense_Mutation_p.G685C|APLP2_uc001qfq.2_Missense_Mutation_p.G629C|APLP2_uc010sbz.1_Missense_Mutation_p.G485C|APLP2_uc001qfr.2_Missense_Mutation_p.G451C|APLP2_uc001qfs.2_Missense_Mutation_p.G456C|APLP2_uc001qfv.2_Missense_Mutation_p.G588C|APLP2_uc009zcv.2_Missense_Mutation_p.G45C NM_001642 NP_001633 Q06481 APLP2_HUMAN amyloid beta (A4) precursor-like protein 2 697 Helical; (Potential). G-protein coupled receptor protein signaling pathway integral to membrane|nucleus|plasma membrane DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity ovary(3) 3 all_hematologic(175;0.0429) Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24) TGCTCTCATTGGCCTGCTGGT 0.562 NA 28 46 4.87955e-14 6.38502e-14 0.005443 1 0 GLB1L3 112937 broad.mit.edu 37 11 134182308 134182308 + Silent SNP C C A rs75421740 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:134182308C>A uc009zdf.2 + 14 1713 c.1353C>A c.(1351-1353)TCC>TCA p.S451S GLB1L3_uc001qho.3_RNA NM_001080407 NP_001073876 Q8NCI6 GLBL3_HUMAN galactosidase, beta 1 like 3 451 carbohydrate metabolic process cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds pancreas(1) 1 all_hematologic(175;0.127) all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559) Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222) GCGGCCAGTCCTACGGGCTTG 0.592 NA 34 40 6.00712e-18 8.55506e-18 0.002445 1 0 KDM5A 5927 broad.mit.edu 37 12 419077 419077 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:419077C>T uc001qif.1 - 22 3633 c.3270G>A c.(3268-3270)AGG>AGA p.R1090R KDM5A_uc001qie.1_Silent_p.R1090R|KDM5A_uc010sdn.1_Silent_p.R1049R NM_001042603 NP_001036068 P29375 KDM5A_HUMAN retinoblastoma binding protein 2 isoform 1 1090 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|ovary(1) 3 TTACTTTTTTCCTCCTATTTT 0.403 NA T NUP98 AML 37 7 0 0 0.004878 0 0 ERC1 23085 broad.mit.edu 37 12 1291232 1291232 + Splice_Site SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:1291232G>T uc001qjb.2 + 10 2257 c.2016_splice c.e10+1 p.E672_splice ERC1_uc001qiz.2_Splice_Site|ERC1_uc001qjc.2_Splice_Site_p.E644_splice|ERC1_uc001qja.2_Splice_Site|ERC1_uc001qjd.2_Splice_Site|ERC1_uc001qjf.2_Splice_Site_p.E672_splice|ERC1_uc010sdv.1_Splice_Site_p.E420_splice|ERC1_uc009zdp.2_Splice_Site_p.E312_splice NM_178040 NP_829884 Q8IUD2 RB6I2_HUMAN RAB6-interacting protein 2 isoform epsilon I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding ovary(2)|lung(2)|breast(1) 5 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) AGAGAAAGAGGTTAAGCTCCC 0.358 NA 12 3 2.80697e-09 3.35311e-09 0.000978 1 0 KCNA5 3741 broad.mit.edu 37 12 5153658 5153658 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:5153658G>T uc001qni.2 + 1 574 c.345G>T c.(343-345)GCG>GCT p.A115A NM_002234 NP_002225 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related 115 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(2)|breast(2) 4 TGGGCACGGCGTCCCTGCACC 0.697 NA 12 5 5.16669e-11 6.41359e-11 0.000978 1 0 VWF 7450 broad.mit.edu 37 12 6121286 6121286 + Silent SNP C C T rs144221902 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:6121286C>T uc001qnn.1 - 33 5881 c.5631G>A c.(5629-5631)AGG>AGA p.R1877R VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 1877 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) CCATGCAAATCCTAACAAATC 0.428 NA 103 28 0 0 0.00361 0 0 GPR162 27239 broad.mit.edu 37 12 6936231 6936231 + Silent SNP T T G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:6936231T>G uc001qqw.1 + 5 2164 c.1629T>G c.(1627-1629)CCT>CCG p.P543P LEPREL2_uc001qqz.1_5'Flank|LEPREL2_uc001qra.1_5'Flank|LEPREL2_uc001qrb.1_5'Flank|GPR162_uc001qqx.1_Silent_p.P259P|GPR162_uc009zfd.1_Silent_p.P239P|GPR162_uc001qqy.1_Intron NM_019858 NP_062832 Q16538 GP162_HUMAN G protein-coupled receptor 162 isoform 2 543 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 TTGGGTCCCCTGAGAGCAGAG 0.652 NA 71 16 0 0 0.00361 0 0 USP5 8078 broad.mit.edu 37 12 6965198 6965198 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:6965198G>T uc001qri.3 + 4 381 c.322G>T c.(322-324)GAC>TAC p.D108Y USP5_uc001qrh.3_Missense_Mutation_p.D108Y NM_001098536 NP_001092006 P45974 UBP5_HUMAN ubiquitin specific peptidase 5 isoform 1 108 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process lysosome cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding lung(2)|breast(1)|skin(1) 4 AGGCGGATTTGACCTTAGCGA 0.522 NA 118 29 1.14919e-56 2.11671e-56 0.00361 1 0 GUCY2C 2984 broad.mit.edu 37 12 14809552 14809552 + Splice_Site SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:14809552C>G uc001rcd.2 - 12 1502 c.1365_splice c.e12-1 p.R455_splice NM_004963 NP_004954 P25092 GUC2C_HUMAN guanylate cyclase 2C precursor intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity ovary(4)|skin(2) 6 TCTATATTTTCTGTGAAAGGA 0.373 NA 35 6 0 0 0.002836 0 0 RERG 85004 broad.mit.edu 37 12 15370383 15370383 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:15370383C>A uc001rcs.2 - 1 181 c.41G>T c.(40-42)AGA>ATA p.R14I RERG_uc001rct.2_Missense_Mutation_p.R14I|RERG_uc010shu.1_Missense_Mutation_p.R14I NM_032918 NP_116307 Q96A58 RERG_HUMAN RAS-like, estrogen-regulated, growth inhibitor 14 GTP. negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction cytosol|membrane|nucleus estrogen receptor binding|GDP binding|GTP binding|GTPase activity lung(1) 1 CACGCCTGCTCTCCCAAATAT 0.418 NA 60 16 2.165e-29 3.58179e-29 0.00361 1 0 EPS8 2059 broad.mit.edu 37 12 15777257 15777257 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:15777257T>C uc009zif.2 - 19 2223 c.2129A>G c.(2128-2130)CAT>CGT p.H710R EPS8_uc001rdb.2_Missense_Mutation_p.H710R|EPS8_uc009zig.2_Missense_Mutation_p.H450R|EPS8_uc010shv.1_Missense_Mutation_p.H450R NM_004447 NP_004438 Q12929 EPS8_HUMAN epidermal growth factor receptor pathway 710 cell proliferation|epidermal growth factor receptor signaling pathway SH3/SH2 adaptor activity ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244) BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264) CCGTGGCACATGGAATTTCTT 0.493 NA 71 22 0 0 0.00361 0 0 PDE3A 5139 broad.mit.edu 37 12 20769266 20769266 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:20769266G>T uc001reh.1 + 4 1394 c.1372G>T c.(1372-1374)GTA>TTA p.V458L NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 458 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) GCCTGCACCAGTACGGAGAGA 0.547 NA 44 43 1.63429e-32 2.77256e-32 0.00361 1 0 SLCO1B3 28234 broad.mit.edu 37 12 21051426 21051426 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:21051426G>A uc001rek.2 + 13 1865 c.1739G>A c.(1738-1740)AGA>AAA p.R580K SLCO1B3_uc001rel.2_Missense_Mutation_p.R580K|SLCO1B3_uc010sil.1_Missense_Mutation_p.R580K|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.R405K NM_019844 NP_062818 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, 580 Helical; Name=11; (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) ATGGTTATAAGAACACTAGGT 0.259 NA 14 20 0 0 0.004007 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21229434 21229434 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:21229434G>T uc010sil.1 + 15 2044 c.1979G>T c.(1978-1980)TGT>TTT p.C660F LST-3TM12_uc010sim.1_Missense_Mutation_p.C599F|LST-3TM12_uc010sin.1_Missense_Mutation_p.C552F Q9NPD5 SO1B3_HUMAN SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) GATACAACGTGTATGAAGTGG 0.353 NA 85 63 1.37401e-58 2.5429e-58 0.00361 1 0 SSPN 8082 broad.mit.edu 37 12 26383870 26383870 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:26383870A>T uc001rhe.2 + 3 693 c.593A>T c.(592-594)CAG>CTG p.Q198L SSPN_uc001rhd.2_Missense_Mutation_p.Q95L|SSPN_uc009zjf.2_Intron|SSPN_uc001rhf.3_Intron NM_005086 NP_005077 Q14714 SSPN_HUMAN sarcospan isoform 1 198 Helical; (Potential). cell adhesion|muscle contraction cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle 0 Colorectal(261;0.0847) TTACTCATCCAGATGATTCTT 0.502 NA 38 95 0 0 0.007835 0 0 MRPS35 60488 broad.mit.edu 37 12 27908112 27908112 + Splice_Site SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:27908112A>G uc001rih.2 + 8 751 c.703_splice c.e8-2 p.N235_splice MRPS35_uc001rii.2_Splice_Site NM_021821 NP_068593 P82673 RT35_HUMAN mitochondrial ribosomal protein S35 precursor DNA damage response, detection of DNA damage mitochondrial small ribosomal subunit 0 Lung SC(9;0.0873) GTTTTGTTTCAGAATACTGAA 0.249 NA 12 60 0 0 0.001368 0 0 TMTC1 83857 broad.mit.edu 37 12 29670436 29670436 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:29670436C>A uc001rjb.2 - 14 2243 c.1769G>T c.(1768-1770)CGA>CTA p.R590L TMTC1_uc001riz.2_Missense_Mutation_p.R347L|TMTC1_uc001rja.2_Missense_Mutation_p.R434L|TMTC1_uc001riy.2_Missense_Mutation_p.R43L NM_175861 NP_787057 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat 698 TPR 7. integral to membrane binding 0 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) CTCTTCGTATCGGCCAGTGTT 0.478 NA 38 105 2.68985e-26 4.32433e-26 0.00361 1 0 TMTC1 83857 broad.mit.edu 37 12 29904703 29904704 + Missense_Mutation DNP CC CC AG rs146096763 byFrequency TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:29904703_29904704CC>AG uc001rjb.2 - 5 983_984 c.509_510GG>CT c.(508-510)CGG>CCT p.R170P TMTC1_uc001rjc.1_Missense_Mutation_p.R170P NM_175861 NP_787057 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat 278 integral to membrane binding 0 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) TGTGAGGGAACCGCTGCTGCTT 0.569 NA 12 31 0 0 0.004672 0 0 PKP2 5318 broad.mit.edu 37 12 33003763 33003763 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:33003763C>T uc001rlj.3 - 5 1430 c.1315G>A c.(1315-1317)GTA>ATA p.V439I PKP2_uc001rlk.3_Missense_Mutation_p.V439I|PKP2_uc010skj.1_Missense_Mutation_p.V439I NM_004572 NP_004563 Q99959 PKP2_HUMAN plakophilin 2 isoform 2b 439 ARM 3. cell-cell adhesion desmosome|integral to membrane|nucleus binding ovary(1)|pancreas(1) 2 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) AGCCGAGGTACCCCATTTAGT 0.433 NA 63 39 0 0 0.00361 0 0 SYT10 341359 broad.mit.edu 37 12 33559808 33559808 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:33559808C>A uc001rll.1 - 3 1290 c.993G>T c.(991-993)GGG>GGT p.G331G SYT10_uc009zju.1_Silent_p.G141G NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN synaptotagmin X 331 Cytoplasmic (Potential).|C2 1. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(1)|skin(1) 2 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) GAATCACTTCCCCAATCATGT 0.363 NA 23 25 2.98393e-07 3.40668e-07 0.00278 1 0 PRICKLE1 144165 broad.mit.edu 37 12 42853934 42853934 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:42853934T>C uc010skv.1 - 8 2460 c.2173A>G c.(2173-2175)ATC>GTC p.I725V PRICKLE1_uc001rnl.2_Missense_Mutation_p.I725V|PRICKLE1_uc010skw.1_Missense_Mutation_p.I725V|PRICKLE1_uc001rnm.2_Missense_Mutation_p.I725V|PRICKLE1_uc001rnk.1_5'Flank NM_001144881 NP_001138353 Q96MT3 PRIC1_HUMAN prickle homolog 1 725 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding ovary(3)|skin(1) 4 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) GCATTCTGGATGTATGCTTGG 0.488 NA 28 46 0 0 0.008361 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43771274 43771274 + Missense_Mutation SNP C C G rs112430320 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:43771274C>G uc010skx.1 - 32 4889 c.4889G>C c.(4888-4890)CGG>CCG p.R1630P NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 1630 TSP type-1 14. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) AACTATAGGCCGAAGTCGATG 0.413 NA 19 9 0 0 0.010504 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43822270 43822270 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:43822270G>T uc010skx.1 - 26 3719 c.3719C>A c.(3718-3720)CCA>CAA p.P1240Q ADAMTS20_uc001rno.1_Missense_Mutation_p.P358Q|ADAMTS20_uc001rnp.1_Missense_Mutation_p.P394Q NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 1240 TSP type-1 8. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CTCATCAATTGGCTGATGGTA 0.443 NA 19 5 8.28177e-16 1.13194e-15 0.007413 1 0 NELL2 4753 broad.mit.edu 37 12 45173785 45173785 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:45173785C>A uc001rog.2 - 4 951 c.356G>T c.(355-357)AGT>ATT p.S119I NELL2_uc001rof.3_Missense_Mutation_p.S118I|NELL2_uc001roh.2_Missense_Mutation_p.S119I|NELL2_uc009zkd.2_Missense_Mutation_p.S118I|NELL2_uc010skz.1_Missense_Mutation_p.S169I|NELL2_uc010sla.1_Missense_Mutation_p.S142I|NELL2_uc001roi.1_Missense_Mutation_p.S119I|NELL2_uc010slb.1_Missense_Mutation_p.S118I|NELL2_uc001roj.2_Missense_Mutation_p.S119I NM_001145108 NP_001138580 Q99435 NELL2_HUMAN NEL-like protein 2 isoform b precursor 119 TSP N-terminal. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) CCGATGGCCACTACTTTCCAG 0.413 NA 46 18 2.77807e-22 4.24726e-22 0.003214 1 0 NELL2 4753 broad.mit.edu 37 12 45269639 45269639 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:45269639A>T uc001rog.2 - 1 609 c.14T>A c.(13-15)GTC>GAC p.V5D NELL2_uc001rof.3_5'Flank|NELL2_uc001roh.2_Missense_Mutation_p.V5D|NELL2_uc009zkd.2_5'UTR|NELL2_uc010skz.1_Missense_Mutation_p.V55D|NELL2_uc010sla.1_Missense_Mutation_p.V28D|NELL2_uc001roi.1_Missense_Mutation_p.V5D|NELL2_uc010slb.1_5'UTR|NELL2_uc001roj.2_Missense_Mutation_p.V5D NM_001145108 NP_001138580 Q99435 NELL2_HUMAN NEL-like protein 2 isoform b precursor 5 cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) TCTCAGTAAGACCCGAGACTC 0.517 NA 49 24 0 0 0.00361 0 0 FAM113B 91523 broad.mit.edu 37 12 47630123 47630123 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:47630123A>G uc001rpn.2 + 4 2008 c.1277A>G c.(1276-1278)AAT>AGT p.N426S FAM113B_uc001rpq.2_Missense_Mutation_p.N426S NM_138371 NP_612380 Q96HM7 F113B_HUMAN hypothetical protein LOC91523 426 Pro-rich. hydrolase activity skin(3)|ovary(2) 5 Renal(347;0.138)|Lung SC(27;0.192) GCCCCAGCCAATCCTGAGCCA 0.552 NA 8 3 0 0 0.004482 0 0 COL2A1 1280 broad.mit.edu 37 12 48386700 48386700 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:48386700C>A uc001rqu.2 - 16 1165 c.984G>T c.(982-984)CTG>CTT p.L328L COL2A1_uc001rqv.2_Silent_p.L259L NM_001844 NP_001835 P02458 CO2A1_HUMAN collagen, type II, alpha 1 isoform 1 precursor 328 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) TTTCACCAGGCAGGCCACGAG 0.483 NA 8 18 1.06961e-07 1.23722e-07 0.00308 1 0 WNT10B 7480 broad.mit.edu 37 12 49361986 49361986 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:49361986C>G uc001rss.2 - 4 800 c.454G>C c.(454-456)GGT>CGT p.G152R WNT10B_uc001rst.2_Missense_Mutation_p.G152R NM_003394 NP_003385 O00744 WN10B_HUMAN wingless-type MMTV integration site family, 152 axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity skin(4)|lung(3) 7 TCCTGCTCACCACTGCCCTTC 0.552 NA 36 10 0 0 0.005524 0 0 NCKAP5L 57701 broad.mit.edu 37 12 50189365 50189365 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:50189365G>A uc009zlk.2 - 8 2480 c.2278C>T c.(2278-2280)CGG>TGG p.R760W NCKAP5L_uc001rvc.3_5'UTR|NCKAP5L_uc001rvb.2_Missense_Mutation_p.R353W NM_001037806 NP_001032895 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 756 central_nervous_system(1) 1 AGGTCCACCCGGGCCCCCATG 0.667 NA 12 1 0 0 0.001368 0 0 AQP2 359 broad.mit.edu 37 12 50344880 50344880 + Nonsense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:50344880C>A uc001rvn.2 + 1 357 c.267C>A c.(265-267)TAC>TAA p.Y89* NM_000486 NP_000477 P41181 AQP2_HUMAN aquaporin 2 89 Helical; (Potential). cellular response to copper ion|cellular response to mercury ion|excretion apical plasma membrane|integral to membrane|transport vesicle membrane glycerol transmembrane transporter activity|water channel activity ovary(2) 2 CCGCCTTCTACGTGGCTGCCC 0.657 NA 22 5 1.87028e-06 2.0836e-06 0.001882 1 0 LARP4 113251 broad.mit.edu 37 12 50822840 50822840 + Nonsense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:50822840G>T uc001rwp.1 + 3 433 c.289G>T c.(289-291)GAA>TAA p.E97* LARP4_uc001rwo.1_Nonsense_Mutation_p.E103*|LARP4_uc001rwq.1_Nonsense_Mutation_p.E97*|LARP4_uc001rwr.1_Nonsense_Mutation_p.E97*|LARP4_uc001rws.1_Nonsense_Mutation_p.E96*|LARP4_uc001rwm.2_Nonsense_Mutation_p.E97*|LARP4_uc001rwn.2_Nonsense_Mutation_p.E27* NM_052879 NP_443111 Q71RC2 LARP4_HUMAN c-Mpl binding protein isoform a 97 nucleotide binding|RNA binding ovary(1) 1 TTTAGGACCAGAAGATCTGAG 0.348 NA 27 6 1.30988e-24 2.06632e-24 0.002096 1 0 SCN8A 6334 broad.mit.edu 37 12 52200380 52200380 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:52200380T>A uc001ryw.2 + 27 5288 c.5110T>A c.(5110-5112)TCA>ACA p.S1704T NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha 1704 IV. axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity ovary(7) 7 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) AATCACAACCTCAGCTGGTTG 0.507 NA 47 11 0 0 0.00361 0 0 ANKRD33 341405 broad.mit.edu 37 12 52284445 52284445 + Missense_Mutation SNP A A C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:52284445A>C uc001rzf.3 + 5 919 c.340A>C c.(340-342)ACC>CCC p.T114P ANKRD33_uc001rzh.3_3'UTR|ANKRD33_uc001rzd.2_Missense_Mutation_p.T239P|ANKRD33_uc001rze.2_Missense_Mutation_p.T135P|ANKRD33_uc001rzg.3_Missense_Mutation_p.T41P|ANKRD33_uc001rzi.3_Missense_Mutation_p.T114P NM_001130015 NP_001123487 Q7Z3H0 ANR33_HUMAN ankyrin repeat domain 33 isoform 1 114 ANK 3. 0 BRCA - Breast invasive adenocarcinoma(357;0.0969) CAGCTTCGACACCGTGTGGAG 0.632 NA 8 22 0 0 0.006214 0 0 ACVR1B 91 broad.mit.edu 37 12 52385742 52385742 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:52385742C>G uc001rzn.2 + 8 1399 c.1357C>G c.(1357-1359)CGT>GGT p.R453G ACVR1B_uc001rzm.2_Missense_Mutation_p.R453G|ACVR1B_uc010snn.1_Missense_Mutation_p.R494G NM_004302 NP_004293 P36896 ACV1B_HUMAN activin A receptor, type IB isoform a precursor 453 Protein kinase.|Cytoplasmic (Potential). G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway cell surface activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1) 9 BRCA - Breast invasive adenocarcinoma(357;0.104) Adenosine triphosphate(DB00171) TCAGAAGCTGCGTCCCAACAT 0.498 NA 54 12 0 0 0.00361 0 0 SP1 6667 broad.mit.edu 37 12 53777109 53777109 + Nonsense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:53777109G>T uc001scw.2 + 3 1475 c.1378G>T c.(1378-1380)GGA>TGA p.G460* SP1_uc010sog.1_Nonsense_Mutation_p.G453* NM_138473 NP_612482 P08047 SP1_HUMAN Sp1 transcription factor isoform a 460 Transactivation domain B (Gln-rich). positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter cytoplasm double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(357;0.00527) GGGGCCCAATGGACAGGTCAG 0.542 NA 26 64 7.26314e-15 9.69421e-15 0.007291 1 0 RDH5 5959 broad.mit.edu 37 12 56117674 56117674 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:56117674G>A uc001shk.2 + 4 757 c.574G>A c.(574-576)GAT>AAT p.D192N RDH5_uc001shl.2_Missense_Mutation_p.D192N NM_002905 NP_002896 Q92781 RDH1_HUMAN retinol dehydrogenase 5 (11-cis and 9-cis) 192 response to stimulus|visual perception membrane binding|retinol dehydrogenase activity ovary(1) 1 NADH(DB00157)|Vitamin A(DB00162) CTCTAGGCGGGATGTAGCTCA 0.567 NA 35 9 0 0 0.004289 0 0 SILV 6490 broad.mit.edu 37 12 56348026 56348026 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:56348026C>T uc001sip.2 - 11 1989 c.1958G>A c.(1957-1959)AGC>AAC p.S653N SILV_uc001siq.2_Missense_Mutation_p.S660N|SILV_uc010spx.1_Missense_Mutation_p.S567N|SILV_uc001sir.2_Missense_Mutation_p.S653N NM_006928 NP_008859 P40967 PMEL_HUMAN silver homolog 653 Cytoplasmic (Potential). melanin biosynthetic process|melanosome organization endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane protein binding 0 GAGGAGGGGGCTGTTCTCACC 0.527 NA 38 6 0 0 0.004878 0 0 PPM1H 57460 broad.mit.edu 37 12 63225978 63225978 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:63225978G>T uc001srk.3 - 2 476 c.327C>A c.(325-327)GCC>GCA p.A109A NM_020700 NP_065751 Q9ULR3 PPM1H_HUMAN protein phosphatase 1H (PP2C domain containing) 109 phosphoprotein phosphatase activity lung(3)|ovary(1) 4 GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209) GBM - Glioblastoma multiforme(28;0.0126) TTGAGGTCACGGCCCCTGCCT 0.552 NA 14 16 2.61681e-11 3.26933e-11 0.00245 1 0 AVPR1A 552 broad.mit.edu 37 12 63544072 63544072 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:63544072C>T uc001sro.1 - 1 2519 c.545G>A c.(544-546)AGC>AAC p.S182N NM_000706 NP_000697 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 182 Helical; Name=4; (Potential). activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity 0 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) CTGCGGCGTGCTCAGCACGAA 0.652 NA 57 6 0 0 0.00361 0 0 DPY19L2 283417 broad.mit.edu 37 12 63954414 63954414 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:63954414C>A uc001srp.1 - 22 2336 c.2155G>T c.(2155-2157)GAT>TAT p.D719Y DPY19L2_uc010sso.1_Missense_Mutation_p.D166Y NM_173812 NP_776173 Q6NUT2 D19L2_HUMAN dpy-19-like 2 719 multicellular organismal development|spermatid development integral to membrane central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) TCTTCCACATCCCAGATTTCA 0.423 NA 16 3 0.00074312 0.000778124 0.006122 1 0 MDM1 56890 broad.mit.edu 37 12 68710012 68710012 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:68710012C>G uc001stz.2 - 8 1163 c.1027G>C c.(1027-1029)GCT>CCT p.A343P MDM1_uc010stc.1_Missense_Mutation_p.A308P|MDM1_uc009zqv.1_Missense_Mutation_p.A63P NM_017440 NP_059136 Q8TC05 MDM1_HUMAN mouse Mdm1 nuclear protein homolog isoform 1 343 nucleus ovary(3)|skin(2) 5 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000174) TAAAACTCAGCCTTTTCTCGG 0.403 NA 16 2 0 0 0.004007 0 0 KCNC2 3747 broad.mit.edu 37 12 75444566 75444566 + Nonsense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:75444566C>A uc001sxg.1 - 3 1763 c.1219G>T c.(1219-1221)GGA>TGA p.G407* KCNC2_uc009zry.2_Nonsense_Mutation_p.G407*|KCNC2_uc001sxe.2_Nonsense_Mutation_p.G407*|KCNC2_uc001sxf.2_Nonsense_Mutation_p.G407*|KCNC2_uc010stw.1_Nonsense_Mutation_p.G407* NM_139137 NP_631875 Q96PR1 KCNC2_HUMAN Shaw-related voltage-gated potassium channel 407 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(2)|pancreas(2)|skin(1)|lung(1) 6 GGTTGAGCTCCCACTCTCTCG 0.448 NA 27 6 6.04164e-23 9.30298e-23 0.002096 1 0 KCNC2 3747 broad.mit.edu 37 12 75601353 75601353 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:75601353C>A uc001sxg.1 - 2 955 c.411G>T c.(409-411)GAG>GAT p.E137D KCNC2_uc009zry.2_Missense_Mutation_p.E137D|KCNC2_uc001sxe.2_Missense_Mutation_p.E137D|KCNC2_uc001sxf.2_Missense_Mutation_p.E137D|KCNC2_uc010stw.1_Missense_Mutation_p.E137D NM_139137 NP_631875 Q96PR1 KCNC2_HUMAN Shaw-related voltage-gated potassium channel 137 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(2)|pancreas(2)|skin(1)|lung(1) 6 AGAAGGCCAGCTCCTCCTCGA 0.667 NA 41 13 1.41504e-22 2.16852e-22 0.002852 1 0 NAV3 89795 broad.mit.edu 37 12 78362454 78362454 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:78362454G>T uc001syp.2 + 5 816 c.643G>T c.(643-645)GCC>TCC p.A215S NAV3_uc001syo.2_Missense_Mutation_p.A215S NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 215 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 AGCCAGCCAGGCCAAAACCCA 0.443 NA HNSCC(70;0.22) 15 0 1.5739e-10 1.93387e-10 0.004007 1 0 C12orf26 84190 broad.mit.edu 37 12 82871108 82871108 + Nonsense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:82871108C>T uc001szq.2 + 11 1717 c.1696C>T c.(1696-1698)CGA>TGA p.R566* NM_032230 NP_115606 Q8N6Q8 CL026_HUMAN hypothetical protein LOC84190 566 0 TCTTCTGGATCGACTTTGTTA 0.294 NA 21 42 0 0 0.002299 0 0 C12orf50 160419 broad.mit.edu 37 12 88391905 88391905 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:88391905G>A uc001tam.1 - 4 364 c.196C>T c.(196-198)CTG>TTG p.L66L C12orf50_uc001tan.2_Silent_p.L120L NM_152589 NP_689802 Q8NA57 CL050_HUMAN hypothetical protein LOC160419 66 skin(2)|ovary(1) 3 TGAGGTTTCAGAGGTTCTTGA 0.373 NA 22 6 0 0 0.00278 0 0 C12orf12 196477 broad.mit.edu 37 12 91348364 91348364 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:91348364G>T uc001tbj.2 - 1 590 c.156C>A c.(154-156)CAC>CAA p.H52Q NM_152638 NP_689851 Q8TC90 CL012_HUMAN hypothetical protein LOC196477 52 central_nervous_system(1)|pancreas(1) 2 GGCTATATCGGTGCGGTCTAT 0.567 NA 9 17 1.12685e-05 1.23405e-05 0.004482 1 0 NR2C1 7181 broad.mit.edu 37 12 95451334 95451334 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:95451334C>G uc001tdm.3 - 7 1034 c.778G>C c.(778-780)GAT>CAT p.D260H NR2C1_uc010suu.1_Missense_Mutation_p.D260H|NR2C1_uc001tdo.3_Missense_Mutation_p.D260H|NR2C1_uc001tdn.3_Missense_Mutation_p.D260H NM_003297 NP_003288 P13056 NR2C1_HUMAN nuclear receptor subfamily 2, group C, member 1 260 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor PML body sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1) 1 CACACCTTATCTGATGTCATC 0.328 NA 23 5 0 0 0.001882 0 0 ANO4 121601 broad.mit.edu 37 12 101295615 101295615 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:101295615C>A uc010svm.1 + 2 624 c.52C>A c.(52-54)CCA>ACA p.P18T ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Missense_Mutation_p.P18T|ANO4_uc001thx.2_Missense_Mutation_p.P18T NM_178826 NP_849148 Q32M45 ANO4_HUMAN anoctamin 4 18 Extracellular (Potential). chloride channel complex chloride channel activity ovary(4)|skin(2) 6 AGTCTTCCACCCAGGTGATGC 0.458 NA HNSCC(74;0.22) 33 47 4.3181e-19 6.26967e-19 0.002836 1 0 ANO4 121601 broad.mit.edu 37 12 101480565 101480565 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:101480565T>A uc010svm.1 + 17 2236 c.1664T>A c.(1663-1665)GTG>GAG p.V555E ANO4_uc001thw.2_Missense_Mutation_p.V520E|ANO4_uc001thx.2_Missense_Mutation_p.V555E|ANO4_uc001thy.2_Missense_Mutation_p.V75E NM_178826 NP_849148 Q32M45 ANO4_HUMAN anoctamin 4 555 Helical; (Potential). chloride channel complex chloride channel activity ovary(4)|skin(2) 6 GGGACTGCTGTGTGCATCAAC 0.483 NA HNSCC(74;0.22) 51 9 0 0 0.00361 0 0 MYBPC1 4604 broad.mit.edu 37 12 102023252 102023252 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:102023252C>A uc001tii.2 + 4 246 c.144C>A c.(142-144)GCC>GCA p.A48A MYBPC1_uc001tif.1_Silent_p.A61A|MYBPC1_uc001tig.2_Silent_p.A73A|MYBPC1_uc010svq.1_Silent_p.A35A|MYBPC1_uc001tih.2_Silent_p.A73A|MYBPC1_uc001tij.2_Silent_p.A48A|MYBPC1_uc010svr.1_Silent_p.A48A|MYBPC1_uc010svs.1_Silent_p.A48A|MYBPC1_uc010svt.1_Silent_p.A36A|MYBPC1_uc010svu.1_Silent_p.A48A|MYBPC1_uc001tik.2_Silent_p.A22A NM_206820 NP_996556 Q00872 MYPC1_HUMAN myosin binding protein C, slow type isoform 3 48 cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding ovary(2)|liver(1)|skin(1) 4 AGGAACAAGCCAAGCAGAATG 0.478 NA 23 5 7.92952e-12 9.99719e-12 0.003954 1 0 STAB2 55576 broad.mit.edu 37 12 104129323 104129323 + Nonsense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:104129323G>T uc001tjw.2 + 52 5701 c.5515G>T c.(5515-5517)GAG>TAG p.E1839* STAB2_uc009zug.2_RNA NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 1839 Extracellular (Potential).|FAS1 6. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 GCAAGGTTCAGAGCTGAGTGT 0.532 NA 12 5 1.61879e-10 1.98651e-10 0.001368 1 0 RFX4 5992 broad.mit.edu 37 12 107090223 107090223 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:107090223A>T uc001tlr.2 + 8 898 c.832A>T c.(832-834)AGC>TGC p.S278C RFX4_uc010swv.1_RNA|RFX4_uc001tls.2_Missense_Mutation_p.S287C|RFX4_uc001tlt.2_Missense_Mutation_p.S287C|RFX4_uc001tlv.2_Missense_Mutation_p.S184C NM_213594 NP_998759 Q33E94 RFX4_HUMAN regulatory factor X4 isoform c 278 transcription, DNA-dependent nucleus DNA binding upper_aerodigestive_tract(1) 1 ATTACCTGACAGGTGGGCATG 0.522 NA 39 6 0 0 0.00623 0 0 ACACB 32 broad.mit.edu 37 12 109577742 109577742 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:109577742G>T uc001tob.2 + 2 651 c.532G>T c.(532-534)GAC>TAC p.D178Y ACACB_uc001toc.2_Missense_Mutation_p.D178Y NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 178 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) CTCCGACGAGGACTCTGTTGC 0.572 NA 58 20 1.06179e-41 1.88914e-41 0.00361 1 0 MMAB 326625 broad.mit.edu 37 12 109999611 109999611 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:109999611C>G uc001tou.2 - 5 468 c.395G>C c.(394-396)TGC>TCC p.C132S MMAB_uc001tov.2_RNA|MMAB_uc001tow.2_RNA|MMAB_uc010sxq.1_Missense_Mutation_p.C41S|MMAB_uc001tox.2_Missense_Mutation_p.C80S NM_052845 NP_443077 Q96EY8 MMAB_HUMAN cob(I)alamin adenosyltransferase precursor 132 cobalamin biosynthetic process mitochondrion ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity 0 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GGCCGAGGAGCATGGTGTCGC 0.582 NA 3 1 0 0 0.004672 0 0 TBX5 6910 broad.mit.edu 37 12 114823344 114823344 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:114823344G>T uc001tvo.2 - 7 1187 c.692C>A c.(691-693)CCC>CAC p.P231H TBX5_uc001tvp.2_Missense_Mutation_p.P231H|TBX5_uc001tvq.2_Missense_Mutation_p.P181H|TBX5_uc010syv.1_Missense_Mutation_p.P231H NM_181486 NP_852259 Q99593 TBX5_HUMAN T-box 5 isoform 1 231 T-box. cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(6)|pancreas(1)|skin(1) 8 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) TTTGGCAAAGGGATTATTCTC 0.453 NSCLC(152;1358 1980 4050 23898 40356) NA 32 13 4.39465e-27 7.12426e-27 0.002836 1 0 TMEM120B 144404 broad.mit.edu 37 12 122188331 122188331 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:122188331C>T uc001ubc.3 + 4 495 c.351C>T c.(349-351)CTC>CTT p.L117L TMEM120B_uc009zxh.2_Silent_p.L117L NM_001080825 NP_001074294 A0PK00 T120B_HUMAN transmembrane protein 120B 117 Helical; (Potential). integral to membrane 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238) TGACCCTCCTCAGCAACCAGG 0.333 NA 45 6 0 0 0.002522 0 0 WDR66 144406 broad.mit.edu 37 12 122413223 122413223 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:122413223G>A uc009zxk.2 + 18 2987 c.2845G>A c.(2845-2847)GAA>AAA p.E949K NM_144668 NP_653269 Q8TBY9 WDR66_HUMAN WD repeat domain 66 949 calcium ion binding ovary(1)|skin(1) 2 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) TGGTGGCCGGGAAGGAAAATT 0.463 Esophageal Squamous(85;849 1794 49757 52143) NA 21 21 0 0 0.002299 0 0 FZD10 11211 broad.mit.edu 37 12 130647776 130647776 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:130647776G>C uc001uii.2 + 1 745 c.289G>C c.(289-291)GAG>CAG p.E97Q uc001uig.1_5'Flank|uc001uih.1_5'Flank NM_007197 NP_009128 Q9ULW2 FZD10_HUMAN frizzled 10 precursor 97 FZ.|Extracellular (Potential). brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(3)|breast(1)|central_nervous_system(1) 5 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) GATGTGCACCGAGCAGGTCTC 0.652 NA 32 44 0 0 0.002096 0 0 SFRS8 6433 broad.mit.edu 37 12 132195869 132195869 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr12:132195869G>A uc001uja.1 + 1 235 c.95G>A c.(94-96)CGA>CAA p.R32Q SFRS8_uc010tbn.1_Missense_Mutation_p.R32Q|SFRS8_uc001ujb.1_5'UTR|SFRS8_uc001uiz.1_5'UTR NM_004592 NP_004583 Q12872 SFSWA_HUMAN splicing factor, arginine/serine-rich 8 32 mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05) GGGGGCAGCCGAGTGGAGCTC 0.697 NA 17 35 0 0 0.00499 0 0 TPTE2 93492 broad.mit.edu 37 13 20038657 20038657 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr13:20038657C>A uc001umd.2 - 11 891 c.680G>T c.(679-681)CGT>CTT p.R227L TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Missense_Mutation_p.R116L|TPTE2_uc001ume.2_Missense_Mutation_p.R150L|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN TPTE and PTEN homologous inositol lipid 227 Phosphatase tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) AGCAATAATACGTTCTGAAAG 0.299 NA 18 9 8.00594e-06 8.79744e-06 0.007413 1 0 GJA3 2700 broad.mit.edu 37 13 20716932 20716932 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr13:20716932C>A uc001umx.1 - 2 668 c.496G>T c.(496-498)GGC>TGC p.G166C NM_021954 NP_068773 Q9Y6H8 CXA3_HUMAN connexin 46 166 Helical; (Potential). cell-cell signaling|visual perception connexon complex|integral to membrane pancreas(1) 1 all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784) AAGTACTGGCCGGCGATGAAG 0.652 NA 19 10 1.67942e-08 1.97446e-08 0.006122 1 0 SACS 26278 broad.mit.edu 37 13 23905743 23905743 + Nonsense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr13:23905743G>C uc001uon.2 - 10 12861 c.12272C>G c.(12271-12273)TCA>TGA p.S4091* SACS_uc001uoo.2_Nonsense_Mutation_p.S3944*|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 4091 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TTTACTGTCTGAATGTTGAAT 0.343 NA 22 3 0 0 0.001882 0 0 ATP12A 479 broad.mit.edu 37 13 25274899 25274899 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr13:25274899T>C uc001upp.2 + 13 1907 c.1720T>C c.(1720-1722)TAC>CAC p.Y574H ATP12A_uc010aaa.2_Missense_Mutation_p.Y580H NM_001676 NP_001667 P54707 AT12A_HUMAN hydrogen/potassium-exchanging ATPase 12A 574 Cytoplasmic (Potential). ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1) 6 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) CTGTCATCTCTACCTGCCAGC 0.408 Pancreas(156;1582 1935 18898 22665 26498) NA 12 7 0 0 0.001368 0 0 CENPJ 55835 broad.mit.edu 37 13 25480995 25480995 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr13:25480995T>A uc001upt.3 - 7 1434 c.1181A>T c.(1180-1182)AAA>ATA p.K394I CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA|CENPJ_uc001upu.2_5'Flank NM_018451 NP_060921 Q9HC77 CENPJ_HUMAN centromere protein J 394 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding ovary(2) 2 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) TTCTTTGCCTTTTTGAAACTT 0.403 NA 16 4 0 0 0.004007 0 0 FAM123A 219287 broad.mit.edu 37 13 25744644 25744644 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr13:25744644G>T uc001uqb.2 - 1 1214 c.1114C>A c.(1114-1116)CTG>ATG p.L372M FAM123A_uc001uqa.2_Intron|FAM123A_uc001uqc.2_Intron NM_152704 NP_689917 Q8N7J2 F123A_HUMAN hypothetical protein LOC219287 isoform 1 372 ovary(2)|large_intestine(1)|lung(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) AAGCTTTTCAGTGAAGTCACG 0.463 NA 13 4 0.000422831 0.000446373 0.004007 1 0 PAN3 255967 broad.mit.edu 37 13 28835536 28835536 + Splice_Site SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr13:28835536A>G uc001urz.2 + 8 924 c.916_splice c.e8-2 p.E306_splice PAN3_uc010tdo.1_Splice_Site_p.E452_splice|PAN3_uc001ury.2_Splice_Site_p.E140_splice|PAN3_uc001urx.2_Splice_Site_p.E252_splice NM_175854 NP_787050 Q58A45 PAN3_HUMAN PABP1-dependent poly A-specific ribonuclease nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity ovary(1) 1 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) TTTGTTTCATAGGAGCTGATC 0.294 NA 11 3 0 0 0.000978 0 0 HSPH1 10808 broad.mit.edu 37 13 31724221 31724221 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr13:31724221C>A uc001utj.2 - 8 1405 c.1007G>T c.(1006-1008)AGT>ATT p.S336I HSPH1_uc001utk.2_Missense_Mutation_p.S336I|HSPH1_uc010aaw.2_Missense_Mutation_p.S295I|HSPH1_uc001utl.2_Missense_Mutation_p.S338I|HSPH1_uc010tds.1_Missense_Mutation_p.S260I|HSPH1_uc010tdt.1_RNA NM_006644 NP_006635 Q92598 HS105_HUMAN heat shock 105kD 336 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding 0 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) CTCAACTGCACTCACATCTTC 0.398 NA 21 15 0.00121646 0.00126827 0.008871 1 0 RXFP2 122042 broad.mit.edu 37 13 32356837 32356837 + Silent SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr13:32356837T>C uc001utt.2 + 11 953 c.882T>C c.(880-882)GGT>GGC p.G294G RXFP2_uc010aba.2_Intron NM_130806 NP_570718 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 294 LRR 7.|Extracellular (Potential). integral to membrane|plasma membrane 0 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) ATCAAATTGGTTTTGTTCCAG 0.388 NA 21 9 0 0 0.003954 0 0 FRY 10129 broad.mit.edu 37 13 32802711 32802711 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr13:32802711G>T uc001utx.2 + 40 5821 c.5325G>T c.(5323-5325)ATG>ATT p.M1775I FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 1775 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TCCCACAGATGACCCAGGAGG 0.532 NA 49 17 3.77016e-25 5.98644e-25 0.003214 1 0 PDS5B 23047 broad.mit.edu 37 13 33344486 33344486 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr13:33344486G>T uc010abf.2 + 32 4010 c.3852G>T c.(3850-3852)CCG>CCT p.P1284P PDS5B_uc010abg.2_RNA NM_015032 NP_055847 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog 1284 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding ovary(2)|lung(1)|pancreas(1) 4 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) AGAATAGTCCGCCAAAAAAGG 0.408 NA 12 2 1.08611e-07 1.2533e-07 0.000978 1 0 POSTN 10631 broad.mit.edu 37 13 38153997 38153997 + Splice_Site SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr13:38153997C>A uc001uwo.3 - 12 1778 c.1660_splice c.e12+1 p.R554_splice POSTN_uc010tet.1_Splice_Site_p.R82_splice|POSTN_uc001uwp.3_Splice_Site_p.R554_splice|POSTN_uc001uwr.2_Splice_Site_p.R554_splice|POSTN_uc001uwq.2_Splice_Site_p.R554_splice|POSTN_uc010teu.1_Splice_Site_p.R554_splice|POSTN_uc010tev.1_Splice_Site_p.R554_splice|POSTN_uc010tew.1_Splice_Site_p.R554_splice|POSTN_uc010tex.1_Splice_Site_p.R469_splice NM_006475 NP_006466 Q15063 POSTN_HUMAN periostin, osteoblast specific factor isoform 1 cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding ovary(2) 2 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) CTTCCACTTACGTATCAGAAT 0.403 NA 10 4 0.000673444 0.000705548 0.008291 1 0 POSTN 10631 broad.mit.edu 37 13 38161012 38161012 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr13:38161012A>T uc001uwo.3 - 6 778 c.660T>A c.(658-660)AAT>AAA p.N220K POSTN_uc001uwp.3_Missense_Mutation_p.N220K|POSTN_uc001uwr.2_Missense_Mutation_p.N220K|POSTN_uc001uwq.2_Missense_Mutation_p.N220K|POSTN_uc010teu.1_Missense_Mutation_p.N220K|POSTN_uc010tev.1_Missense_Mutation_p.N220K|POSTN_uc010tew.1_Missense_Mutation_p.N220K|POSTN_uc010tex.1_Missense_Mutation_p.N135K NM_006475 NP_006466 Q15063 POSTN_HUMAN periostin, osteoblast specific factor isoform 1 220 FAS1 1. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding ovary(2) 2 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) GGACAACACCATTTGTTGCAA 0.383 NA 16 7 0 0 0.004007 0 0 COG6 57511 broad.mit.edu 37 13 40293944 40293944 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr13:40293944C>A uc001uxh.2 + 15 1664 c.1564C>A c.(1564-1566)CTG>ATG p.L522M COG6_uc001uxi.2_Missense_Mutation_p.L470M|COG6_uc010acb.2_Missense_Mutation_p.L522M NM_020751 NP_065802 Q9Y2V7 COG6_HUMAN component of oligomeric golgi complex 6 isoform 522 protein transport Golgi membrane|Golgi transport complex kidney(1)|skin(1) 2 Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168) TGACAGACGTCTGGAAATGCT 0.343 NA 16 5 3.52763e-06 3.90747e-06 0.00499 1 0 KIAA0564 23078 broad.mit.edu 37 13 42393467 42393467 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr13:42393467C>A uc001uyj.2 - 15 1826 c.1756G>T c.(1756-1758)GTT>TTT p.V586F KIAA0564_uc001uyk.2_Missense_Mutation_p.V586F NM_015058 NP_055873 A3KMH1 K0564_HUMAN hypothetical protein LOC23078 isoform a 586 extracellular region ATP binding|ATPase activity ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1) 6 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) CTTCCAATAACAGGGGGTTCT 0.373 NA 15 8 2.23348e-06 2.47965e-06 0.004007 1 0 CAB39L 81617 broad.mit.edu 37 13 49906179 49906179 + Silent SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr13:49906179T>A uc001vcw.2 - 8 1236 c.738A>T c.(736-738)ACA>ACT p.T246T CAB39L_uc001vcx.2_Silent_p.T246T|CAB39L_uc010adf.2_Silent_p.T243T NM_030925 NP_112187 Q9H9S4 CB39L_HUMAN calcium binding protein 39-like 246 cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol protein binding 0 Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226) TGATATACTTTGTCATGATGG 0.438 NA 72 57 0 0 0.00361 0 0 RCBTB1 55213 broad.mit.edu 37 13 50108290 50108290 + Missense_Mutation SNP T T G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr13:50108290T>G uc001vde.1 - 13 1825 c.1564A>C c.(1564-1566)AAA>CAA p.K522Q NM_018191 NP_060661 Q8NDN9 RCBT1_HUMAN regulator of chromosome condensation (RCC1) and 522 cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(1) 1 Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;4.7e-09) TTACTGGCTTTAGCAATGAAT 0.453 NA 33 80 0 0 0.002836 0 0 DHRS12 79758 broad.mit.edu 37 13 52351249 52351249 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr13:52351249T>C uc001vfq.2 - 6 505 c.457A>G c.(457-459)ATT>GTT p.I153V DHRS12_uc001vfr.1_Missense_Mutation_p.I104V|DHRS12_uc001vfs.1_Missense_Mutation_p.I104V A0PJE2 DHR12_HUMAN RecName: Full=Dehydrogenase/reductase SDR family member 12; EC=1.1.-.-; 153 binding|oxidoreductase activity 0 Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.81e-08) GTCGTGAGAATGTACACACCT 0.572 NA 29 24 0 0 0.008361 0 0 OLFM4 10562 broad.mit.edu 37 13 53616220 53616220 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr13:53616220G>T uc001vhl.2 + 3 533 c.533G>T c.(532-534)GGT>GTT p.G178V OLFM4_uc001vhk.1_Intron NM_006418 NP_006409 Q6UX06 OLFM4_HUMAN olfactomedin 4 precursor 178 Potential. cell adhesion extracellular space skin(1) 1 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) GAGAGTTTTGGTGGAAGCTCA 0.428 NA 5 5 0.000602214 0.000632636 0.000602 1 0 PCDH17 27253 broad.mit.edu 37 13 58208476 58208476 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr13:58208476G>C uc001vhq.1 + 1 2688 c.1796G>C c.(1795-1797)CGC>CCC p.R599P PCDH17_uc010aec.1_Missense_Mutation_p.R599P NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 599 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CAGGTGCCGCGCAACGCTGGC 0.647 Melanoma(72;952 1291 1619 12849 33676) NA 13 5 0 0 0.00245 0 0 DIAPH3 81624 broad.mit.edu 37 13 60590082 60590082 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr13:60590082C>A uc001vht.2 - 7 955 c.736G>T c.(736-738)GTC>TTC p.V246F DIAPH3_uc001vhu.2_5'Flank|DIAPH3_uc001vhw.1_Missense_Mutation_p.V235F|DIAPH3_uc010aed.1_Missense_Mutation_p.V200F|DIAPH3_uc010aee.1_Missense_Mutation_p.V176F|uc001vhx.2_Intron|uc001vhy.2_Intron NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN diaphanous homolog 3 isoform a 246 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2) 2 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) CACTGTATGACTTTATGTTGA 0.313 NA 9 2 1.08611e-07 1.2533e-07 0.000978 1 0 PCDH20 64881 broad.mit.edu 37 13 61986284 61986284 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr13:61986284C>T uc001vid.3 - 2 2312 c.1948G>A c.(1948-1950)GAA>AAA p.E650K PCDH20_uc010thj.1_Missense_Mutation_p.E650K NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN protocadherin 20 623 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|breast(1)|central_nervous_system(1) 6 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) GGAAAGTTTTCAGGCACAAAA 0.478 NA 23 10 0 0 0.00333 0 0 PCDH9 5101 broad.mit.edu 37 13 67801402 67801402 + Nonsense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr13:67801402T>A uc001vik.2 - 2 1863 c.1171A>T c.(1171-1173)AAG>TAG p.K391* PCDH9_uc001vil.2_Nonsense_Mutation_p.K391*|PCDH9_uc010thl.1_Nonsense_Mutation_p.K391*|PCDH9_uc001vin.3_Nonsense_Mutation_p.K391* NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 391 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TCTGTGTCCTTATCTGAAACT 0.378 NA 54 42 0 0 0.00361 0 0 DACH1 1602 broad.mit.edu 37 13 72440789 72440789 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr13:72440789G>T uc010thn.1 - 1 542 c.119C>A c.(118-120)CCG>CAG p.P40Q DACH1_uc010tho.1_Missense_Mutation_p.P40Q|DACH1_uc010thp.1_Missense_Mutation_p.P40Q NM_080759 NP_542937 Q9UI36 DACH1_HUMAN dachshund homolog 1 isoform a 40 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding breast(1) 1 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) GGAAGGAGCCGGAGACGAAGT 0.677 NA 8 14 5.18039e-06 5.70876e-06 0.00308 1 0 LOC647288 647288 broad.mit.edu 37 13 75814255 75814255 + Silent SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr13:75814255T>C uc010ths.1 - 1 263 c.222A>G c.(220-222)AGA>AGG p.R74R NR_027466 Homo sapiens mRNA; cDNA DKFZp434F0327 (from clone DKFZp434F0327). 0 GTTTTTTCTCTCTTCCCACAT 0.368 NA 28 83 0 0 0.005443 0 0 CLN5 1203 broad.mit.edu 37 13 77569290 77569290 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr13:77569290A>G uc001vkc.2 + 2 441 c.413A>G c.(412-414)GAT>GGT p.D138G NM_006493 NP_006484 O75503 CLN5_HUMAN ceroid-lipofuscinosis, neuronal 5 89 brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding ovary(1) 1 Acute lymphoblastic leukemia(28;0.205) GBM - Glioblastoma multiforme(99;0.0503) ATGGAGGGTGATGATGACATT 0.418 NA 24 58 0 0 0.00278 0 0 SLITRK1 114798 broad.mit.edu 37 13 84453925 84453925 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr13:84453925G>T uc001vlk.2 - 1 2604 c.1718C>A c.(1717-1719)TCC>TAC p.S573Y NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 573 LRRCT 2.|Extracellular (Potential). integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) CTCGTCATTGGAGAGGAGCAT 0.542 NA 18 8 5.03518e-11 6.25436e-11 0.007413 1 0 SLITRK1 114798 broad.mit.edu 37 13 84455557 84455557 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr13:84455557C>G uc001vlk.2 - 1 972 c.86G>C c.(85-87)TGT>TCT p.C29S NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 29 LRRNT.|Extracellular (Potential). integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) ATTGCAGGAACAGATCTTCTC 0.468 NA 34 49 0 0 0.002836 0 0 SLITRK5 26050 broad.mit.edu 37 13 88328109 88328109 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr13:88328109G>A uc001vln.2 + 2 685 c.466G>A c.(466-468)GAG>AAG p.E156K SLITRK5_uc010tic.1_Intron NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 156 LRR 4.|Extracellular (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) GGAGAACCTGGAGTACCTACA 0.448 NA 23 63 0 0 0.001882 0 0 SLITRK5 26050 broad.mit.edu 37 13 88330362 88330362 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr13:88330362G>T uc001vln.2 + 2 2938 c.2719G>T c.(2719-2721)GGG>TGG p.G907W SLITRK5_uc010tic.1_Missense_Mutation_p.G666W NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 907 Cytoplasmic (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) CCCGGGGGCAGGGGACAGCAG 0.557 NA 25 114 4.47668e-21 6.73766e-21 0.003954 1 0 DCT 1638 broad.mit.edu 37 13 95120999 95120999 + Splice_Site SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr13:95120999C>A uc001vlv.3 - 2 1022 c.595_splice c.e2+1 p.G199_splice DCT_uc010afh.2_Splice_Site_p.G199_splice NM_001922 NP_001913 P40126 TYRP2_HUMAN dopachrome tautomerase isoform 1 epidermis development|melanin biosynthetic process from tyrosine cytosol|integral to membrane|melanosome membrane|microsome copper ion binding|dopachrome isomerase activity|oxidoreductase activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988) COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472) AAAAAACCCACCTAATAATGT 0.408 NA 72 51 3.41413e-29 5.63871e-29 0.00361 1 0 OXGR1 27199 broad.mit.edu 37 13 97639385 97639386 + Missense_Mutation DNP GG GG TT TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr13:97639385_97639386GG>TT uc001vmx.1 - 4 872_873 c.628_629CC>AA c.(628-630)CCC>AAC p.P210N OXGR1_uc010afr.1_Missense_Mutation_p.P210N NM_080818 NP_543008 Q96P68 OXGR1_HUMAN oxoglutarate (alpha-ketoglutarate) receptor 1 210 Helical; Name=5; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1)|skin(1) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.186) TATCACCAAGGGGAGGCAGAAA 0.475 NA 31 34 0 0 0.004672 0 0 SLC15A1 6564 broad.mit.edu 37 13 99361875 99361875 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr13:99361875A>T uc001vno.2 - 14 1095 c.1018T>A c.(1018-1020)TTC>ATC p.F340I NM_005073 NP_005064 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide 340 Helical; (Potential). digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity ovary(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) ACAGCATCGAAGATCGGGACC 0.517 NA 27 26 0 0 0.008361 0 0 KDELC1 79070 broad.mit.edu 37 13 103450906 103450906 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr13:103450906G>T uc001vpq.3 - 1 499 c.115C>A c.(115-117)CTA>ATA p.L39I KDELC1_uc001vpr.3_5'UTR|BIVM_uc001vps.2_5'Flank|BIVM_uc010agc.2_5'Flank NM_024089 NP_076994 Q6UW63 KDEL1_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 1 precursor 39 Filamin. endoplasmic reticulum lumen ovary(1) 1 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) TCTGCTTTTAGCCCGGGTCCC 0.527 NA 34 17 1.22384e-17 1.73272e-17 0.002836 1 0 ERCC5 2073 broad.mit.edu 37 13 103514619 103514619 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr13:103514619G>T uc001vpw.2 + 8 1563 c.1120G>T c.(1120-1122)GCA>TCA p.A374S ERCC5_uc001vpu.1_Missense_Mutation_p.A828S|ERCC5_uc010tjb.1_Missense_Mutation_p.A374S|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.A206S NM_000123 NP_000114 P28715 ERCC5_HUMAN XPG-complementing protein 374 negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection nucleoplasm bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) TGGGAGGAACGCACCTGCTGC 0.522 NA Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 45 30 5.78141e-17 8.04407e-17 0.003214 1 0 FAM155A 728215 broad.mit.edu 37 13 108518057 108518057 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr13:108518057C>A uc001vql.2 - 1 1404 c.888G>T c.(886-888)TCG>TCT p.S296S NM_001080396 NP_001073865 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 296 integral to membrane binding skin(1) 1 AGGATTTCACCGAGTACTCCT 0.498 NA 42 36 1.96642e-18 2.81708e-18 0.006999 1 0 MYO16 23026 broad.mit.edu 37 13 109777616 109777616 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr13:109777616G>T uc001vqt.1 + 30 3752 c.3626G>T c.(3625-3627)CGG>CTG p.R1209L MYO16_uc010agk.1_Missense_Mutation_p.R1231L|MYO16_uc010tjh.1_Missense_Mutation_p.R721L NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 1209 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) GACATTGCCCGGGAAAATGAC 0.478 NA 16 23 3.35478e-16 4.61133e-16 0.003163 1 0 TMCO3 55002 broad.mit.edu 37 13 114202690 114202690 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr13:114202690G>T uc001vtu.3 + 12 2204 c.1843G>T c.(1843-1845)GCG>TCG p.A615S NM_017905 NP_060375 Q6UWJ1 TMCO3_HUMAN transmembrane and coiled-coil domains 3 615 Helical; (Potential). integral to membrane solute:hydrogen antiporter activity 0 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983) all cancers(43;0.0317) GATCGTCTCTGCGGGGCTTGC 0.627 NA 43 32 4.64027e-19 6.73239e-19 0.00361 1 0 OR11H12 440153 broad.mit.edu 37 14 19378079 19378079 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:19378079G>T uc010tkp.1 + 1 486 c.486G>T c.(484-486)CTG>CTT p.L162L NM_001013354 NP_001013372 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, 162 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGGTCATACTGTGCTGGGTTT 0.473 NA 65 313 1.37693e-34 2.3671e-34 0.00361 1 0 OR4Q3 441669 broad.mit.edu 37 14 20215914 20215914 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:20215914G>T uc010tkt.1 + 1 328 c.328G>T c.(328-330)GCC>TCC p.A110S NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 110 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTTTCTAGGAGCCAGTGAGAT 0.488 NA 13 142 1.5842e-08 1.8682e-08 0.001855 1 0 OR4M1 441670 broad.mit.edu 37 14 20248716 20248716 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:20248716C>G uc010tku.1 + 1 235 c.235C>G c.(235-237)CCT>GCT p.P79A NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 79 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CATTACAGCCCCTAAAATGCT 0.443 NA 139 610 0 0 0.00361 0 0 OR4K2 390431 broad.mit.edu 37 14 20344691 20344691 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:20344691C>A uc001vwh.1 + 1 265 c.265C>A c.(265-267)CAC>AAC p.H89N NM_001005501 NP_001005501 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, 89 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CCTAACAGGTCACAAAACCAT 0.408 NA 191 181 3.43769e-75 6.44234e-75 0.00361 1 0 OR4K5 79317 broad.mit.edu 37 14 20388871 20388871 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:20388871A>G uc010tkw.1 + 1 106 c.106A>G c.(106-108)ACA>GCA p.T36A NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, 36 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGTGTTGTATACAGTCATTGT 0.403 NA 61 274 0 0 0.00361 0 0 OR4K13 390433 broad.mit.edu 37 14 20502265 20502266 + Missense_Mutation DNP TA TA AT TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 TA TA - - TA TA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:20502265_20502266TA>AT uc010tkz.1 - 1 652_653 c.652_653TA>AT c.(652-654)TAT>ATT p.Y218I NM_001004714 NP_001004714 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, 218 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) TATGACTCCATAGGAGACAAGC 0.485 NA 52 9 0 0 0.004672 0 0 OR4L1 122742 broad.mit.edu 37 14 20528666 20528666 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:20528666C>A uc001vwn.1 + 1 463 c.463C>A c.(463-465)CAC>AAC p.H155N NM_001004717 NP_001004717 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, 155 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) TGGTTTTTTACACTCCATAAG 0.403 NA 81 13 7.31121e-38 1.27501e-37 0.00361 1 0 OR11H6 122748 broad.mit.edu 37 14 20692206 20692206 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:20692206C>A uc010tlc.1 + 1 338 c.338C>A c.(337-339)TCT>TAT p.S113Y NM_001004480 NP_001004480 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, 113 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) ATCTCCTTCTCTGGTTGCTTC 0.413 NA 74 10 1.356e-25 2.162e-25 0.00361 1 0 PNP 4860 broad.mit.edu 37 14 20940629 20940629 + Silent SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:20940629A>T uc001vxo.3 + 2 316 c.174A>T c.(172-174)CGA>CGT p.R58R PNP_uc010ahm.1_Silent_p.R58R|PNP_uc010ahn.2_Silent_p.R58R|PNP_uc001vxn.3_5'UTR NM_000270 NP_000261 P00491 PNPH_HUMAN nucleoside phosphorylase 58 immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process cytoskeleton|cytosol drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity ovary(2) 2 Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033) ACTTTCCCCGAAGTACAGGTA 0.468 NA 11 15 0 0 0.000978 0 0 CHD8 57680 broad.mit.edu 37 14 21863490 21863490 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:21863490C>A uc001was.1 - 29 4406 c.4312G>T c.(4312-4314)GAT>TAT p.D1438Y CHD8_uc001war.1_Missense_Mutation_p.D1334Y NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 1717 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) ATCTCCTCATCCATCATCATC 0.468 NA 4 10 0.00024832 0.000262719 0.009096 1 0 CEBPE 1053 broad.mit.edu 37 14 23588155 23588155 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:23588155C>A uc001wiv.1 - 1 320 c.146G>T c.(145-147)GGG>GTG p.G49V NM_001805 NP_001796 Q15744 CEBPE_HUMAN CCAAT/enhancer binding protein epsilon 49 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0064) CTGCTCTTCCCCAGACTCGAT 0.647 NSCLC(63;1230 1818 14565 22565) NA 55 12 1.78197e-24 2.80189e-24 0.00361 1 0 TM9SF1 10548 broad.mit.edu 37 14 24662025 24662025 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:24662025C>T uc001wnb.1 - 3 1144 c.796G>A c.(796-798)GCT>ACT p.A266T IPO4_uc001wmz.1_5'Flank|TM9SF1_uc010toa.1_Missense_Mutation_p.A179T|TM9SF1_uc001wna.1_RNA|TM9SF1_uc010tob.1_Missense_Mutation_p.A501T|TM9SF1_uc001wnc.2_Missense_Mutation_p.A266T|TM9SF1_uc001wnd.2_Missense_Mutation_p.A122T NM_006405 NP_006396 O15321 TM9S1_HUMAN transmembrane 9 superfamily member 1 isoform a 266 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane ovary(1) 1 GBM - Glioblastoma multiforme(265;0.0183) TTGTACCGAGCCAGGTCATTC 0.473 NA 63 71 0 0 0.00361 0 0 TM9SF1 10548 broad.mit.edu 37 14 24662418 24662418 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:24662418C>T uc001wnb.1 - 3 751 c.403G>A c.(403-405)GAC>AAC p.D135N IPO4_uc001wmz.1_5'Flank|TM9SF1_uc010toa.1_Missense_Mutation_p.D48N|TM9SF1_uc001wna.1_RNA|TM9SF1_uc010tob.1_Missense_Mutation_p.D370N|TM9SF1_uc001wnc.2_Missense_Mutation_p.D135N|TM9SF1_uc001wnd.2_5'UTR NM_006405 NP_006396 O15321 TM9S1_HUMAN transmembrane 9 superfamily member 1 isoform a 135 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane ovary(1) 1 GBM - Glioblastoma multiforme(265;0.0183) ATTGGCAAGTCATCTACCACA 0.507 NA 51 45 0 0 0.00361 0 0 TM9SF1 10548 broad.mit.edu 37 14 24664018 24664018 + Missense_Mutation SNP C C T rs148543793 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:24664018C>T uc001wnb.1 - 2 556 c.208G>A c.(208-210)GAG>AAG p.E70K TM9SF1_uc010toa.1_5'UTR|TM9SF1_uc001wna.1_RNA|TM9SF1_uc010tob.1_Missense_Mutation_p.E305K|TM9SF1_uc001wnc.2_Missense_Mutation_p.E70K|TM9SF1_uc001wnd.2_5'Flank NM_006405 NP_006396 O15321 TM9S1_HUMAN transmembrane 9 superfamily member 1 isoform a 70 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane ovary(1) 1 GBM - Glioblastoma multiforme(265;0.0183) CGTATCTTCTCAGGGCAGCAG 0.507 NA 468 393 0 0 0.00361 0 0 CTSG 1511 broad.mit.edu 37 14 25042994 25042994 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:25042994A>T uc001wpq.2 - 5 654 c.617T>A c.(616-618)CTG>CAG p.L206Q NM_001911 NP_001902 P08311 CATG_HUMAN cathepsin G preproprotein 206 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity ovary(2) 2 GBM - Glioblastoma multiforme(265;0.0269) ATTGTTACACAGCAGGGGGCC 0.592 NA 81 21 0 0 0.00361 0 0 CTSG 1511 broad.mit.edu 37 14 25043928 25043928 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:25043928G>T uc001wpq.2 - 3 329 c.292C>A c.(292-294)CCT>ACT p.P98T NM_001911 NP_001902 P08311 CATG_HUMAN cathepsin G preproprotein 98 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity ovary(2) 2 GBM - Glioblastoma multiforme(265;0.0269) TTATATTGAGGGTGGCGGATG 0.527 NA 42 6 9.73076e-26 1.55403e-25 0.006999 1 0 NOVA1 4857 broad.mit.edu 37 14 26917170 26917170 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:26917170C>A uc001wpy.2 - 5 1837 c.1519G>T c.(1519-1521)GGT>TGT p.G507C NOVA1_uc001wpz.2_Missense_Mutation_p.G483C|NOVA1_uc001wqa.2_Missense_Mutation_p.G385C NM_002515 NP_002506 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 isoform 1 510 locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1) 5 GBM - Glioblastoma multiforme(265;0.0135) GGCACTCAACCCACTTTCTGA 0.428 NA 89 35 6.03386e-27 9.75709e-27 0.00361 1 0 FOXG1 2290 broad.mit.edu 37 14 29237673 29237673 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:29237673C>T uc001wqe.2 + 1 1387 c.1188C>T c.(1186-1188)TGC>TGT p.C396C NM_005249 NP_005240 P55316 FOXG1_HUMAN forkhead box G1 396 Interaction with KDM5B. axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2)|lung(2) 4 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) CGGTGCCCTGCTCTGGGACCT 0.682 NA 18 3 0 0 0.008871 0 0 FOXG1 2290 broad.mit.edu 37 14 29237796 29237796 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:29237796G>T uc001wqe.2 + 1 1510 c.1311G>T c.(1309-1311)AGG>AGT p.R437S NM_005249 NP_005240 P55316 FOXG1_HUMAN forkhead box G1 437 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2)|lung(2) 4 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) TGAGCGCCAGGGCCGCGTCCT 0.637 NA 31 6 6.97489e-18 9.91141e-18 0.004878 1 0 G2E3 55632 broad.mit.edu 37 14 31066643 31066643 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:31066643G>T uc001wqk.2 + 7 700 c.546G>T c.(544-546)GCG>GCT p.A182A G2E3_uc010tpe.1_Silent_p.A136A|G2E3_uc010tpf.1_Silent_p.A136A NM_017769 NP_060239 Q7L622 G2E3_HUMAN G2/M-phase specific E3 ubiquitin ligase 182 PHD-type 2; degenerate. apoptosis|multicellular organismal development|protein modification process Golgi apparatus|nucleolus acid-amino acid ligase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 CAATAAATGCGGGAGTGTTTT 0.313 NA 51 123 2.01807e-28 3.31883e-28 0.00361 1 0 STRN3 29966 broad.mit.edu 37 14 31371816 31371816 + Missense_Mutation SNP A A C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:31371816A>C uc001wqu.2 - 16 2279 c.2063T>G c.(2062-2064)GTA>GGA p.V688G STRN3_uc001wqv.2_Missense_Mutation_p.V604G|STRN3_uc010tpj.1_RNA NM_001083893 NP_001077362 Q13033 STRN3_HUMAN nuclear autoantigen isoform 1 688 WD 4. negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.0124) GGGATGACTTACTACTCTGTT 0.299 NA 24 33 0 0 0.005443 0 0 HECTD1 25831 broad.mit.edu 37 14 31583534 31583534 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:31583534T>A uc001wrc.1 - 31 6120 c.5631A>T c.(5629-5631)AGA>AGT p.R1877S HECTD1_uc001wra.1_Missense_Mutation_p.R3S|HECTD1_uc001wrb.1_Missense_Mutation_p.R3S|HECTD1_uc001wrd.1_Missense_Mutation_p.R1345S NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 1877 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) CCTTCATTTCTCTGTACATGA 0.249 NA 6 6 0 0 0.001984 0 0 AKAP6 9472 broad.mit.edu 37 14 33292940 33292940 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:33292940G>T uc001wrq.2 + 13 6091 c.5921G>T c.(5920-5922)AGC>ATC p.S1974I NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 1974 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GAAAATCAAAGCACTGCCTCT 0.388 Melanoma(49;821 1200 7288 13647 42351) NA 36 44 6.29468e-14 8.23118e-14 0.004878 1 0 Unknown 0 broad.mit.edu 37 14 36841088 36841088 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:36841088T>C uc001wtp.2 + 1 719 c.470T>C c.(469-471)CTT>CCT p.L157P NM_199286 NP_954980 stella NA ACCAAGCCACTTCAGCCATAA 0.378 NA 71 277 0 0 0.00361 0 0 L2HGDH 79944 broad.mit.edu 37 14 50778849 50778849 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:50778849T>C uc001wxu.2 - 1 99 c.20A>G c.(19-21)TAT>TGT p.Y7C L2HGDH_uc010tqn.1_Missense_Mutation_p.Y7C|L2HGDH_uc010tqo.1_Missense_Mutation_p.Y7C|ATP5S_uc001wxv.2_5'Flank|ATP5S_uc001wxw.1_5'Flank|ATP5S_uc001wxx.1_5'Flank NM_024884 NP_079160 Q9H9P8 L2HDH_HUMAN L-2-hydroxyglutarate dehydrogenase precursor 7 2-oxoglutarate metabolic process|cellular protein metabolic process integral to mitochondrial inner membrane 2-hydroxyglutarate dehydrogenase activity ovary(2) 2 all_epithelial(31;0.000599)|Breast(41;0.0102) ACCAACCAAATAACGCAGCGC 0.687 NA OREG0022670 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 6 0 0 0.000978 0 0 TRIM9 114088 broad.mit.edu 37 14 51475904 51475904 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:51475904C>A uc001wyx.3 - 5 1965 c.1200G>T c.(1198-1200)TGG>TGT p.W400C TRIM9_uc001wyy.2_Missense_Mutation_p.W400C|TRIM9_uc001wyz.3_Missense_Mutation_p.W400C NM_015163 NP_055978 Q9C026 TRIM9_HUMAN tripartite motif protein 9 isoform 1 400 COS. proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding skin(2)|lung(1) 3 all_epithelial(31;0.00418)|Breast(41;0.148) TGCCTTTACCCCACTGATCCT 0.493 NA 22 44 3.10358e-05 3.37399e-05 0.002299 1 0 GNG2 54331 broad.mit.edu 37 14 52417474 52417474 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:52417474C>A uc001wzi.2 + 3 607 c.78C>A c.(76-78)GAC>GAA p.D26E GNG2_uc001wzh.2_RNA|GNG2_uc010aoc.1_Intron|GNG2_uc001wzj.2_RNA|GNG2_uc001wzk.2_Missense_Mutation_p.D26E NM_053064 NP_444292 P59768 GBG2_HUMAN guanine nucleotide binding protein (G protein), 26 cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission heterotrimeric G-protein complex protein binding|signal transducer activity 0 all_epithelial(31;0.0659)|Breast(41;0.0684) Halothane(DB01159) CCAATATCGACAGGATAAAGG 0.493 NA 13 32 2.27111e-07 2.59901e-07 0.001368 1 0 BMP4 652 broad.mit.edu 37 14 54416818 54416818 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:54416818C>T uc001xal.3 - 3 1346 c.1159G>A c.(1159-1161)GAT>AAT p.D387N BMP4_uc010aoh.2_Missense_Mutation_p.D387N|BMP4_uc001xao.3_Missense_Mutation_p.D387N|BMP4_uc001xan.3_Missense_Mutation_p.D387N NM_130851 NP_570912 P12644 BMP4_HUMAN bone morphogenetic protein 4 preproprotein 387 activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway extracellular space|proteinaceous extracellular matrix BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity 0 TCATACTCATCCAGGTACAGC 0.483 NA 57 74 0 0 0.00361 0 0 DLGAP5 9787 broad.mit.edu 37 14 55625362 55625362 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:55625362C>G uc001xbs.2 - 14 1968 c.1751G>C c.(1750-1752)AGA>ACA p.R584T DLGAP5_uc001xbt.2_Missense_Mutation_p.R584T NM_014750 NP_055565 Q15398 DLGP5_HUMAN discs large homolog 7 isoform a 584 cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition nucleus|spindle pole centrosome phosphoprotein phosphatase activity|protein binding ovary(1)|skin(1) 2 AATTCTCTCTCTCATTGCATT 0.393 NA 34 31 0 0 0.003755 0 0 FBXO34 55030 broad.mit.edu 37 14 55818810 55818810 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:55818810C>G uc001xbu.2 + 2 1947 c.1702C>G c.(1702-1704)CTT>GTT p.L568V FBXO34_uc001xbv.2_RNA|FBXO34_uc010aoo.2_Missense_Mutation_p.L568V NM_017943 NP_060413 Q9NWN3 FBX34_HUMAN F-box only protein 34 568 ovary(2)|lung(2)|skin(1) 5 AATCCAGCAGCTTTTGGAGCC 0.468 NA 37 69 0 0 0.004289 0 0 KIAA0831 22863 broad.mit.edu 37 14 55848823 55848823 + Missense_Mutation SNP T T G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:55848823T>G uc001xbx.1 - 6 770 c.734A>C c.(733-735)TAC>TCC p.Y245S FBXO34_uc001xbv.2_Intron|KIAA0831_uc001xbw.1_Missense_Mutation_p.Y132S NM_014924 NP_055739 Q6ZNE5 BAKOR_HUMAN Barkor 245 autophagic vacuole assembly|positive regulation of autophagy autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane protein binding 0 TCCTGAGAGGTAAGTTGTCCT 0.537 NA 20 106 0 0 0.010504 0 0 KIAA0831 22863 broad.mit.edu 37 14 55848839 55848839 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:55848839C>A uc001xbx.1 - 6 754 c.718G>T c.(718-720)GCC>TCC p.A240S FBXO34_uc001xbv.2_Intron|KIAA0831_uc001xbw.1_Missense_Mutation_p.A127S NM_014924 NP_055739 Q6ZNE5 BAKOR_HUMAN Barkor 240 autophagic vacuole assembly|positive regulation of autophagy autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane protein binding 0 GTCCTCCGGGCTTCAGCAAGC 0.522 NA 59 50 8.52622e-23 1.30871e-22 0.00361 1 0 PELI2 57161 broad.mit.edu 37 14 56757024 56757024 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:56757024G>T uc001xch.2 + 5 832 c.546G>T c.(544-546)ATG>ATT p.M182I NM_021255 NP_067078 Q9HAT8 PELI2_HUMAN pellino 2 182 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol protein binding ovary(1) 1 ACGGCCACATGGATGGGCTCA 0.537 NA 27 65 7.41945e-09 8.79241e-09 0.005443 1 0 OTX2 5015 broad.mit.edu 37 14 57268602 57268602 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:57268602G>T uc001xcp.2 - 3 892 c.721C>A c.(721-723)CAG>AAG p.Q241K OTX2_uc010aou.2_Missense_Mutation_p.Q241K|OTX2_uc001xcq.2_Missense_Mutation_p.Q249K NM_172337 NP_758840 P32243 OTX2_HUMAN orthodenticle homeobox 2 isoform b 241 axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway growth cone|nucleus|protein complex eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding ovary(1) 1 Medulloblastoma(1;0.00184)|all_neural(1;0.00414) CCATATCCCTGGGTGGAAAGA 0.507 NA 21 48 2.32416e-17 3.26903e-17 0.002299 1 0 DAAM1 23002 broad.mit.edu 37 14 59797982 59797982 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:59797982C>T uc001xdz.1 + 14 1741 c.1616C>T c.(1615-1617)CCC>CTC p.P539L DAAM1_uc001xea.1_Missense_Mutation_p.P539L NM_014992 NP_055807 Q9Y4D1 DAAM1_HUMAN dishevelled-associated activator of 539 FH1.|Pro-rich. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.165) CCAGGAGGGCCCTTTCCTTCC 0.453 NA 15 92 0 0 0.006122 0 0 SLC38A6 145389 broad.mit.edu 37 14 61512097 61512097 + Missense_Mutation SNP T T G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:61512097T>G uc001xfg.1 + 11 894 c.778T>G c.(778-780)TTT>GTT p.F260V SLC38A6_uc001xfh.1_Missense_Mutation_p.F260V|SLC38A6_uc001xfi.2_RNA|SLC38A6_uc001xfj.1_RNA|SLC38A6_uc001xfk.2_RNA|SLC38A6_uc010trz.1_Missense_Mutation_p.F237V NM_153811 NP_722518 Q8IZM9 S38A6_HUMAN solute carrier family 38, member 6 260 Helical; (Potential). amino acid transport|sodium ion transport integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(108;0.0981) GGCTTTTTCATTTCTCTGCCA 0.313 NA 4 35 0 0 0.000602 0 0 KCNH5 27133 broad.mit.edu 37 14 63175062 63175062 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:63175062G>T uc001xfx.2 - 11 2182 c.2131C>A c.(2131-2133)CAG>AAG p.Q711K KCNH5_uc001xfy.2_3'UTR NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 711 Calmodulin-binding (Potential).|Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TTGAACTTCTGGAAGAGCTTT 0.547 NA 42 89 1.22674e-20 1.83206e-20 0.00874 1 0 KCNH5 27133 broad.mit.edu 37 14 63416986 63416986 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:63416986C>T uc001xfx.2 - 7 1285 c.1234G>A c.(1234-1236)GGA>AGA p.G412R KCNH5_uc001xfy.2_Missense_Mutation_p.G412R|KCNH5_uc001xfz.1_Missense_Mutation_p.G354R|KCNH5_uc001xga.2_Missense_Mutation_p.G354R NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 412 Extracellular (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TTGCTGGGTCCTCCTTCCCAT 0.468 NA 47 35 0 0 0.00361 0 0 SYNE2 23224 broad.mit.edu 37 14 64467393 64467393 + Silent SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:64467393A>T uc001xgm.2 + 28 3824 c.3594A>T c.(3592-3594)ACA>ACT p.T1198T SYNE2_uc001xgl.2_Silent_p.T1198T NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1198 Cytoplasmic (Potential).|Potential. centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AAAGAGACACACTAAAGGAAA 0.308 NA 31 32 0 0 0.002096 0 0 ZBTB25 7597 broad.mit.edu 37 14 64954030 64954030 + Nonsense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:64954030G>A uc001xhf.2 - 3 1102 c.919C>T c.(919-921)CAG>TAG p.Q307* ZBTB25_uc001xhc.2_Intron|ZBTB25_uc001xhg.2_Nonsense_Mutation_p.Q307* NM_006977 NP_008908 P24278 ZBT25_HUMAN zinc finger protein 46 307 cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469) TCTGGCTGCTGTTCATTCTCC 0.473 NA 54 93 0 0 0.00361 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68251091 68251091 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:68251091C>A uc001xka.2 - 20 3725 c.3586G>T c.(3586-3588)GTG>TTG p.V1196L ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.V1196L NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1196 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) AGATGTGACACCAGTTGGGAA 0.483 NA 51 161 9.53978e-28 1.55696e-27 0.00361 1 0 ADAM21P1 145241 broad.mit.edu 37 14 70712480 70712480 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:70712480A>T uc010ttg.1 - 1 2039 c.1388T>A c.(1387-1389)CTG>CAG p.L463Q NR_003951 SubName: Full=ADAM21-like protein; 0 TCAGGAAGGCAGATGTGTGAC 0.507 NA 25 24 0 0 0.00278 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72152348 72152348 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:72152348G>C uc001xms.2 + 10 3722 c.3374G>C c.(3373-3375)CGG>CCG p.R1125P SIPA1L1_uc001xmt.2_Missense_Mutation_p.R1125P|SIPA1L1_uc001xmu.2_Missense_Mutation_p.R1125P|SIPA1L1_uc001xmv.2_Missense_Mutation_p.R1125P|SIPA1L1_uc010ttm.1_Missense_Mutation_p.R600P NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1125 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) CTAGAGAGGCGGTAAGTGTGC 0.502 NA 8 34 0 0 0.00308 0 0 RGS6 9628 broad.mit.edu 37 14 72431520 72431520 + Silent SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:72431520A>T uc001xna.3 + 2 535 c.12A>T c.(10-12)GGA>GGT p.G4G RGS6_uc010ttn.1_Silent_p.G4G|RGS6_uc001xmx.3_Silent_p.G4G|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Silent_p.G4G NM_004296 NP_004287 P49758 RGS6_HUMAN regulator of G-protein signalling 6 4 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity p.G4R(1) upper_aerodigestive_tract(1)|lung(1)|skin(1) 3 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) TGGCTCAAGGATCCGGGGATC 0.458 Ovarian(143;1926 2468 21071 48641) NA 39 35 0 0 0.00874 0 0 RGS6 9628 broad.mit.edu 37 14 72961950 72961950 + Silent SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:72961950T>A uc001xna.3 + 13 1468 c.945T>A c.(943-945)GCT>GCA p.A315A RGS6_uc010ttn.1_Silent_p.A315A|RGS6_uc001xmx.3_Silent_p.A315A|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Silent_p.A315A|RGS6_uc010ttp.1_Silent_p.A246A|RGS6_uc001xmz.1_Silent_p.A176A NM_004296 NP_004287 P49758 RGS6_HUMAN regulator of G-protein signalling 6 315 G protein gamma. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity upper_aerodigestive_tract(1)|lung(1)|skin(1) 3 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) ATGACGTTGCTTTGTGGGACA 0.408 Ovarian(143;1926 2468 21071 48641) NA 29 60 0 0 0.002096 0 0 RGS6 9628 broad.mit.edu 37 14 72961952 72961952 + Missense_Mutation SNP T T G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:72961952T>G uc001xna.3 + 13 1470 c.947T>G c.(946-948)TTG>TGG p.L316W RGS6_uc010ttn.1_Missense_Mutation_p.L316W|RGS6_uc001xmx.3_Missense_Mutation_p.L316W|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.L316W|RGS6_uc010ttp.1_Missense_Mutation_p.L247W|RGS6_uc001xmz.1_Missense_Mutation_p.L177W NM_004296 NP_004287 P49758 RGS6_HUMAN regulator of G-protein signalling 6 316 G protein gamma. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity upper_aerodigestive_tract(1)|lung(1)|skin(1) 3 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) GACGTTGCTTTGTGGGACATA 0.403 Ovarian(143;1926 2468 21071 48641) NA 28 62 0 0 0.009535 0 0 DCAF4 26094 broad.mit.edu 37 14 73408452 73408452 + Splice_Site SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:73408452G>C uc001xng.2 + 5 572 c.352_splice c.e5-1 p.I118_splice DCAF4_uc001xnj.2_Splice_Site_p.I118_splice|DCAF4_uc010ttr.1_Splice_Site_p.I96_splice|DCAF4_uc001xnh.2_Splice_Site_p.I18_splice|DCAF4_uc010tts.1_Intron|DCAF4_uc010ttt.1_Splice_Site|DCAF4_uc001xni.2_Intron|DCAF4_uc001xnk.2_Splice_Site_p.I118_splice NM_015604 NP_056419 Q8WV16 DCAF4_HUMAN DDB1 and CUL4 associated factor 4 isoform 1 CUL4 RING ubiquitin ligase complex ovary(1)|central_nervous_system(1)|skin(1) 3 AATAAATATAGATTGCCAGGA 0.368 NA 26 72 0 0 0.005443 0 0 ALDH6A1 4329 broad.mit.edu 37 14 74541699 74541699 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:74541699T>A uc001xpo.2 - 2 169 c.70A>T c.(70-72)AGT>TGT p.S24C C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010asa.2_5'UTR|ALDH6A1_uc010tuq.1_Missense_Mutation_p.S24C NM_005589 NP_005580 Q02252 MMSA_HUMAN aldehyde dehydrogenase 6A1 precursor 24 mitochondrial matrix|nucleus fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00354) NADH(DB00157) CAGGTGGGACTGGATTTCACC 0.368 NA 11 8 0 0 0.000978 0 0 LTBP2 4053 broad.mit.edu 37 14 75078231 75078231 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:75078231C>A uc001xqa.2 - 1 804 c.417G>T c.(415-417)GCG>GCT p.A139A NM_000428 NP_000419 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding 139 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding liver(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GGAGAGCCGGCGCGGCCCGGG 0.751 NA 35 39 6.53348e-20 9.60893e-20 0.003755 1 0 NRXN3 9369 broad.mit.edu 37 14 79432645 79432645 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:79432645C>A uc001xun.2 + 9 2045 c.1554C>A c.(1552-1554)ACC>ACA p.T518T NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Silent_p.T643T NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 891 Extracellular (Potential).|Laminin G-like 5. axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) AGGCTTACACCTCCATGCACC 0.498 NA 62 45 1.80625e-27 2.94296e-27 0.00361 1 0 NRXN3 9369 broad.mit.edu 37 14 79454368 79454368 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:79454368C>A uc001xun.2 + 12 2518 c.2027C>A c.(2026-2028)CCC>CAC p.P676H NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.P801H NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 1049 EGF-like 3.|Extracellular (Potential). axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) TTACTAGGACCCAGTACCACC 0.428 NA 21 20 3.62473e-10 4.41729e-10 0.001882 1 0 KCNK10 54207 broad.mit.edu 37 14 88729877 88729877 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:88729877G>T uc001xwo.2 - 2 513 c.56C>A c.(55-57)GCA>GAA p.A19E KCNK10_uc001xwm.2_Missense_Mutation_p.A24E|KCNK10_uc001xwn.2_Missense_Mutation_p.A24E NM_021161 NP_066984 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 19 Cytoplasmic (Potential). signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity ovary(2)|skin(2)|pancreas(1) 5 GCACACCGGTGCTGCTGCGGG 0.562 NA 30 45 1.55811e-20 2.32156e-20 0.008361 1 0 C14orf102 55051 broad.mit.edu 37 14 90755006 90755006 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:90755006T>A uc001xyi.1 - 11 2744 c.2713A>T c.(2713-2715)AGC>TGC p.S905C C14orf102_uc010atp.1_Missense_Mutation_p.S410C|C14orf102_uc001xyj.1_Missense_Mutation_p.S674C|C14orf102_uc001xyk.1_Missense_Mutation_p.S97C NM_017970 NP_060440 Q9H7Z3 CN102_HUMAN hypothetical protein LOC55051 isoform 1 905 protein binding ovary(2)|lung(1) 3 all_cancers(154;0.118) COAD - Colon adenocarcinoma(157;0.218) TTAGCCAGGCTAATTAGGCGG 0.483 NA 18 16 0 0 0.00499 0 0 TTC7B 145567 broad.mit.edu 37 14 91044511 91044511 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:91044511C>A uc001xyp.2 - 19 2371 c.2249G>T c.(2248-2250)CGG>CTG p.R750L TTC7B_uc001xyo.2_Missense_Mutation_p.R194L|TTC7B_uc010ats.2_RNA NM_001010854 NP_001010854 Q86TV6 TTC7B_HUMAN tetratricopeptide repeat domain 7B 750 TPR 9. binding ovary(2) 2 Melanoma(154;0.222) ATACCACCGCCGCGCCTCGTC 0.622 NA 13 21 9.31168e-06 1.02091e-05 0.001855 1 0 CCDC88C 440193 broad.mit.edu 37 14 91810001 91810001 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:91810001C>A uc010aty.2 - 5 440 c.341G>T c.(340-342)GGG>GTG p.G114V CCDC88C_uc010twk.1_Missense_Mutation_p.G78V NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN DVL-binding protein DAPLE 114 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association ovary(3) 3 all_cancers(154;0.0468) CATGCTCTTCCCTAGATCAAG 0.478 NA 8 12 1.11149e-13 1.44658e-13 0.008291 1 0 TRIP11 9321 broad.mit.edu 37 14 92471709 92471709 + Nonsense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:92471709G>A uc001xzy.2 - 11 3399 c.2611C>T c.(2611-2613)CGA>TGA p.R871* TRIP11_uc010auf.1_Nonsense_Mutation_p.R607* NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 871 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) TCCCTGAGTCGTTCCAATTCT 0.413 Ovarian(84;609 1888 9852 42686) NA T PDGFRB AML 29 41 0 0 0.003271 0 0 SLC24A4 123041 broad.mit.edu 37 14 92792257 92792257 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:92792257G>T uc001yak.2 + 2 149 c.125G>T c.(124-126)TGG>TTG p.W42L SLC24A4_uc001yai.2_5'UTR|SLC24A4_uc010twm.1_Missense_Mutation_p.W59L|SLC24A4_uc001yaj.2_Missense_Mutation_p.W42L NM_153646 NP_705932 Q8NFF2 NCKX4_HUMAN solute carrier family 24 member 4 isoform 1 59 Extracellular (Potential). integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(2)|ovary(1) 3 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) CCAGACACGTGGAGAAATAGA 0.463 NSCLC(10;315 435 10383 28450 38798) NA 6 4 5.9392e-07 6.68982e-07 0.001168 1 0 KIAA1409 57578 broad.mit.edu 37 14 94044382 94044382 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:94044382C>T uc001ybv.1 + 15 1958 c.1875C>T c.(1873-1875)ATC>ATT p.I625I KIAA1409_uc001ybs.1_Silent_p.I625I NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 802 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) ATTGTTTCATCCTCATGTTTG 0.408 NA 15 24 0 0 0.003163 0 0 KIAA1409 57578 broad.mit.edu 37 14 94046646 94046646 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:94046646A>T uc001ybv.1 + 16 2137 c.2054A>T c.(2053-2055)CAG>CTG p.Q685L KIAA1409_uc001ybs.1_Missense_Mutation_p.Q685L NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 862 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) AACTTATGTCAGTCTAGTATC 0.468 NA 25 31 0 0 0.003954 0 0 KIAA1409 57578 broad.mit.edu 37 14 94088153 94088153 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:94088153G>T uc001ybv.1 + 28 4192 c.4109G>T c.(4108-4110)CGG>CTG p.R1370L KIAA1409_uc001ybs.1_Missense_Mutation_p.R1348L NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1525 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) TGCATAGATCGGTGTGACATA 0.453 NA 24 40 1.10923e-09 1.33494e-09 0.00278 1 0 KIAA1409 57578 broad.mit.edu 37 14 94120157 94120157 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:94120157C>A uc001ybv.1 + 35 5888 c.5805C>A c.(5803-5805)GCC>GCA p.A1935A KIAA1409_uc001ybs.1_Silent_p.A1913A NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 2090 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) ATCAGTTGGCCCCCAACGGCA 0.552 NA 112 140 1.9362e-44 3.47689e-44 0.00361 1 0 KIAA1409 57578 broad.mit.edu 37 14 94149022 94149022 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:94149022G>A uc001ybv.1 + 41 6536 c.6453G>A c.(6451-6453)ATG>ATA p.M2151I KIAA1409_uc001ybs.1_Missense_Mutation_p.M2129I NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 2306 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) GCAAGCAGATGATAGCCTCTG 0.289 NA 9 16 0 0 0.000978 0 0 KIAA1409 57578 broad.mit.edu 37 14 94152940 94152940 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:94152940G>T uc001ybv.1 + 42 6577 c.6494G>T c.(6493-6495)TGT>TTT p.C2165F KIAA1409_uc001ybs.1_Missense_Mutation_p.C2143F NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 2320 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) GCGATGGAGTGTGTGAGGCAG 0.522 NA 11 24 1.08611e-07 1.2533e-07 0.000978 1 0 ASB2 51676 broad.mit.edu 37 14 94401024 94401024 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:94401024A>T uc001ycc.1 - 8 2231 c.1742T>A c.(1741-1743)CTG>CAG p.L581Q ASB2_uc001ycb.1_Missense_Mutation_p.L275Q|ASB2_uc001ycd.2_Missense_Mutation_p.L629Q NM_016150 NP_057234 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box-containing protein 581 SOCS box. intracellular signal transduction ovary(1)|pancreas(1) 2 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) CTCGTATTTCAGGTATCTAAT 0.537 NA 23 33 0 0 0.00278 0 0 SERPINA10 51156 broad.mit.edu 37 14 94756523 94756523 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:94756523G>T uc001yct.2 - 2 874 c.408C>A c.(406-408)ACC>ACA p.T136T SERPINA10_uc001ycu.3_Silent_p.T136T NM_016186 NP_057270 Q9UK55 ZPI_HUMAN serine (or cysteine) proteinase inhibitor, clade 136 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) GCCCGGGCTTGGTGGGCTTCA 0.602 NA 23 21 2.98393e-07 3.40668e-07 0.00278 1 0 SERPINA4 5267 broad.mit.edu 37 14 95030432 95030432 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:95030432G>T uc001ydk.2 + 2 679 c.613G>T c.(613-615)GTC>TTC p.V205F SERPINA4_uc010avd.2_Missense_Mutation_p.V242F|SERPINA4_uc001ydl.2_Missense_Mutation_p.V205F NM_006215 NP_006206 P29622 KAIN_HUMAN serine (or cysteine) proteinase inhibitor, clade 205 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity ovary(3)|skin(1) 4 COAD - Colon adenocarcinoma(157;0.211) CAAGAAGGACGTCTTGATGGT 0.458 NA 23 53 5.45024e-15 7.30982e-15 0.00333 1 0 SERPINA13 388007 broad.mit.edu 37 14 95108049 95108049 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:95108049G>T uc001ydt.2 + 2 654 c.566G>T c.(565-567)CGG>CTG p.R189L NR_015340 RecName: Full=Serpin A13; Flags: Precursor; lung(1)|skin(1) 2 CAGGGTCCCCGGCTCCTCCTG 0.632 NA 33 52 4.23469e-30 7.05417e-30 0.003271 1 0 DICER1 23405 broad.mit.edu 37 14 95584026 95584026 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:95584026C>A uc001ydw.2 - 10 1624 c.1442G>T c.(1441-1443)GGA>GTA p.G481V DICER1_uc001ydv.2_Missense_Mutation_p.G471V|DICER1_uc001ydx.2_Missense_Mutation_p.G481V NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 481 Helicase C-terminal.|Required for interaction with PRKRA and TARBP2. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity skin(2)|ovary(1)|pancreas(1)|lung(1) 5 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) AATGCCATGTCCAGTTATGAA 0.363 NA Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ 19 27 9.95505e-16 1.35681e-15 0.002299 1 0 C14orf49 161176 broad.mit.edu 37 14 95922041 95922041 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:95922041G>A uc001yei.3 - 5 825 c.810C>T c.(808-810)CCC>CCT p.P270P C14orf49_uc010avi.2_Silent_p.P270P|C14orf49_uc001yej.1_Silent_p.P270P NM_152592 NP_689805 Q6ZMZ3 SYNE3_HUMAN nesprin-3 270 Spectrin 1.|Cytoplasmic (Potential). cytoskeletal anchoring at nuclear membrane integral to membrane|nuclear outer membrane|SUN-KASH complex actin binding central_nervous_system(1) 1 all_cancers(154;0.0937) COAD - Colon adenocarcinoma(157;0.245) CCTCGCCCCTGGGAAAATCTT 0.537 NA 32 50 0 0 0.002096 0 0 C14orf49 161176 broad.mit.edu 37 14 95942072 95942072 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:95942072G>T uc001yei.3 - 1 102 c.87C>A c.(85-87)GTC>GTA p.V29V C14orf49_uc010avi.2_Silent_p.V29V|C14orf49_uc001yej.1_Silent_p.V29V NM_152592 NP_689805 Q6ZMZ3 SYNE3_HUMAN nesprin-3 29 Cytoplasmic (Potential). cytoskeletal anchoring at nuclear membrane integral to membrane|nuclear outer membrane|SUN-KASH complex actin binding central_nervous_system(1) 1 all_cancers(154;0.0937) COAD - Colon adenocarcinoma(157;0.245) TGTTGTCATTGACCTGCAGCT 0.657 NA 4 15 0.00024832 0.000262719 0.009096 1 0 TCL6 27004 broad.mit.edu 37 14 96135931 96135931 + Missense_Mutation SNP G G A rs145339687 byFrequency TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:96135931G>A uc001yeq.2 + 5 1704 c.235G>A c.(235-237)GAC>AAC p.D79N TCL6_uc001yep.1_RNA|TCL6_uc001yes.2_3'UTR|TCL6_uc001yet.1_Missense_Mutation_p.D21N|TCL6_uc001yeu.2_3'UTR|TCL6_uc001yev.2_3'UTR|TCL1B_uc001yew.2_RNA|TCL1B_uc001yex.2_RNA|TCL1B_uc010avj.2_Intron|TCL6_uc010avk.1_5'Flank NM_020554 NP_065579 SubName: Full=T-cell leukemia/lymphoma 6 ORF163; 0 all_cancers(154;0.103) Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207) aaggagaggggaccatgcaaa 0.005 NA T TRA@ T-ALL 10 19 0 0 0.001855 0 0 ATG2B 55102 broad.mit.edu 37 14 96769497 96769497 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:96769497C>A uc001yfi.2 - 33 5303 c.4938G>T c.(4936-4938)CAG>CAT p.Q1646H NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN ATG2 autophagy related 2 homolog B 1646 ovary(1)|kidney(1)|skin(1) 3 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) TCTCAAGATCCTGAACAATGA 0.433 NA 14 21 0.000151284 0.000161292 0.001855 1 0 BCL11B 64919 broad.mit.edu 37 14 99640777 99640777 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:99640777T>A uc001yga.2 - 4 2663 c.2396A>T c.(2395-2397)GAG>GTG p.E799V BCL11B_uc001ygb.2_Missense_Mutation_p.E728V NM_138576 NP_612808 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B isoform 1 799 C2H2-type 4. nucleus zinc ion binding central_nervous_system(8)|large_intestine(1)|lung(1) 10 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) GCCGCAGTACTCGCACGTGTC 0.597 NA T TLX3 T-ALL 4 15 0 0 0.001168 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102469237 102469237 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:102469237C>A uc001yks.2 + 23 4982 c.4818C>A c.(4816-4818)GAC>GAA p.D1606E NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 1606 Stem (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 GATTGGCAGACCTGCTAGGAA 0.463 NA 26 21 5.45024e-15 7.30982e-15 0.00333 1 0 CDC42BPB 9578 broad.mit.edu 37 14 103405971 103405971 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:103405971C>A uc001ymi.1 - 34 5035 c.4803G>T c.(4801-4803)ATG>ATT p.M1601I NM_006035 NP_006026 Q9Y5S2 MRCKB_HUMAN CDC42-binding protein kinase beta 1601 actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1) 11 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) TGAGCACCTGCATGCCGTCGC 0.617 NA 30 16 3.65163e-15 4.918e-15 0.00632 1 0 KIAA0284 283638 broad.mit.edu 37 14 105353375 105353377 + Missense_Mutation TNP GGA GGA TAC TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 GGA GGA - - GGA GGA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:105353375_105353377GGA>TAC uc010axb.2 + 12 3023_3025 c.2799_2801GGA>TAC c.(2797-2802)GTGGAT>GTTACT p.D934T INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Missense_Mutation_p.D864T|KIAA0284_uc001yps.2_Missense_Mutation_p.D840T|KIAA0284_uc001ypt.2_5'Flank NM_001112726 NP_001106197 Q9Y4F5 K0284_HUMAN hypothetical protein LOC283638 isoform 1 934 cytoplasm|microtubule breast(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.178) CTAATTCTGTGGATGCCGAGTGT 0.675 NA 7 13 0 0 0.004672 0 0 KIAA0284 283638 broad.mit.edu 37 14 105353403 105353403 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:105353403C>T uc010axb.2 + 12 3051 c.2827C>T c.(2827-2829)CCG>TCG p.P943S INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Missense_Mutation_p.P873S|KIAA0284_uc001yps.2_Missense_Mutation_p.P849S|KIAA0284_uc001ypt.2_5'Flank NM_001112726 NP_001106197 Q9Y4F5 K0284_HUMAN hypothetical protein LOC283638 isoform 1 943 cytoplasm|microtubule breast(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.178) GGGCAGCACCCCGAGGCCGCC 0.687 NA 11 14 0 0 0.002299 0 0 CRIP2 1397 broad.mit.edu 37 14 105945464 105945464 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:105945464G>A uc001yrd.1 + 6 478 c.409G>A c.(409-411)GAG>AAG p.E137K CRIP2_uc010tyr.1_Missense_Mutation_p.E211K|CRIP2_uc001yre.1_Missense_Mutation_p.E137K|CRIP2_uc001yrf.1_RNA|CRIP2_uc001yrg.2_RNA|CRIP2_uc001yrh.1_RNA NM_001312 NP_001303 P52943 CRIP2_HUMAN cysteine-rich protein 2 137 LIM zinc-binding 2. zinc ion binding 0 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.235) CTTTCCAGCTGAGAAGGTGAC 0.627 NA 17 5 0 0 0.007413 0 0 Unknown 0 broad.mit.edu 37 15 20645832 20645832 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:20645832G>A uc001ytg.2 - 20 2953 c.2244C>T c.(2242-2244)CTC>CTT p.L748L uc010tyx.1_RNA|uc001yth.3_Silent_p.L748L|uc010tyy.1_Silent_p.L748L RecName: Full=Putative HERC2-like protein 3; NA CCTGCAGCGTGAGAGCGATGC 0.617 NA 9 40 0 0 0.004482 0 0 CXADRP2 646243 broad.mit.edu 37 15 22016402 22016402 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:22016402C>A uc010tzk.1 - 1 477 c.315G>T c.(313-315)AAG>AAT p.K105N NR_024387 RecName: Full=Coxsackievirus and adenovirus receptor; AltName: Full=Coxsackievirus B-adenovirus receptor; AltName: Full=HCVADR; Short=hCAR; AltName: Full=CVB3-binding protein; Flags: Precursor; 0 CCAGCTGAATCTTCCTATTTG 0.378 NA 5 40 4.096e-09 4.8869e-09 0.001168 1 0 OR4N4 283694 broad.mit.edu 37 15 22383042 22383042 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:22383042C>A uc001yuc.1 + 7 1551 c.570C>A c.(568-570)ACC>ACA p.T190T LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Silent_p.T190T NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, 190 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TGGCTTGCACCGACATGTTTG 0.527 NA 16 23 7.41877e-09 8.79241e-09 0.001882 1 0 OR4N3P 390539 broad.mit.edu 37 15 22413817 22413818 + Missense_Mutation DNP CC CC AA TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:22413817_22413818CC>AA uc001yuf.2 + 1 116_117 c.116_117CC>AA c.(115-117)GCC>GAA p.A39E NM_001080841 NP_001074310 RecName: Full=Olfactory receptor 4N2; AltName: Full=Olfactory receptor OR14-8; AltName: Full=Olfactory receptor OR14-13; 0 GTTGTGATGGCCTTTGACCGCT 0.5 NA 40 80 0 0 0.004672 0 0 C15orf2 23742 broad.mit.edu 37 15 24921679 24921679 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:24921679G>T uc001ywo.2 + 1 1139 c.665G>T c.(664-666)AGT>ATT p.S222I NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 222 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) AACAGCATGAGTGAGAAGGCC 0.617 NA 18 13 2.35188e-11 2.94594e-11 0.006122 1 0 C15orf2 23742 broad.mit.edu 37 15 24923130 24923130 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:24923130T>A uc001ywo.2 + 1 2590 c.2116T>A c.(2116-2118)TCC>ACC p.S706T NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 706 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CACTCCTCCTTCCAAGGCTGT 0.512 NA 60 143 0 0 0.00361 0 0 C15orf2 23742 broad.mit.edu 37 15 24923596 24923596 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:24923596T>A uc001ywo.2 + 1 3056 c.2582T>A c.(2581-2583)CTA>CAA p.L861Q NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 861 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) GGGAACACACTACACAGTGAC 0.493 NA 47 59 0 0 0.002522 0 0 C15orf2 23742 broad.mit.edu 37 15 24923752 24923752 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:24923752C>G uc001ywo.2 + 1 3212 c.2738C>G c.(2737-2739)TCT>TGT p.S913C NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 913 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) TCTGACAGTTCTTTTATTCTG 0.488 NA 84 73 0 0 0.00361 0 0 HERC2 8924 broad.mit.edu 37 15 28380792 28380792 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:28380792C>A uc001zbj.2 - 79 12168 c.12062G>T c.(12061-12063)GGG>GTG p.G4021V NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 4021 RCC1 14. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CGACTCTGTCCCTCCAATGCC 0.448 NA 64 95 3.30712e-30 5.51376e-30 0.00361 1 0 HERC2 8924 broad.mit.edu 37 15 28391471 28391471 + Silent SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:28391471T>A uc001zbj.2 - 71 11026 c.10920A>T c.(10918-10920)GTA>GTT p.V3640V NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 3640 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GGTCAAATTCTACCCTGAGTC 0.527 NA 51 80 0 0 0.00361 0 0 HERC2 8924 broad.mit.edu 37 15 28413635 28413635 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:28413635C>A uc001zbj.2 - 67 10437 c.10331G>T c.(10330-10332)AGT>ATT p.S3444I NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 3444 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) ATTCATGGGACTAGCCATCGC 0.562 NA 78 134 9.35349e-44 1.67652e-43 0.00361 1 0 HERC2 8924 broad.mit.edu 37 15 28465739 28465739 + Nonsense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:28465739C>A uc001zbj.2 - 37 5810 c.5704G>T c.(5704-5706)GGA>TGA p.G1902* NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 1902 MIB/HERC2. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CTTATCCATCCGTCCTCTCCC 0.577 NA 73 145 3.25985e-27 5.29349e-27 0.00361 1 0 HERC2 8924 broad.mit.edu 37 15 28510997 28510997 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:28510997G>A uc001zbj.2 - 13 1828 c.1722C>T c.(1720-1722)ACC>ACT p.T574T HERC2_uc001zbl.1_Silent_p.T269T NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 574 RCC1 2. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CGCGGCCCCAGGTGTACAGCT 0.632 NA 34 59 0 0 0.003755 0 0 APBA2 321 broad.mit.edu 37 15 29346822 29346822 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:29346822C>T uc001zck.2 + 3 942 c.735C>T c.(733-735)GCC>GCT p.A245A APBA2_uc010azj.2_Silent_p.A245A|APBA2_uc010uat.1_Silent_p.A245A|APBA2_uc001zcl.2_Silent_p.A245A|APBA2_uc010uas.1_Silent_p.A245A NM_005503 NP_005494 Q99767 APBA2_HUMAN amyloid beta A4 precursor protein-binding, 245 STXBP1-binding. nervous system development|protein transport protein binding 0 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) TCACCAGCGCCAGTGAGGCCA 0.642 NA 68 42 0 0 0.00361 0 0 APBA2 321 broad.mit.edu 37 15 29346929 29346929 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:29346929C>A uc001zck.2 + 3 1049 c.842C>A c.(841-843)CCC>CAC p.P281H APBA2_uc010azj.2_Missense_Mutation_p.P281H|APBA2_uc010uat.1_Missense_Mutation_p.P281H|APBA2_uc001zcl.2_Missense_Mutation_p.P281H|APBA2_uc010uas.1_Missense_Mutation_p.P281H NM_005503 NP_005494 Q99767 APBA2_HUMAN amyloid beta A4 precursor protein-binding, 281 nervous system development|protein transport protein binding 0 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) GAGGCGAGGCCCAAGTCGCTG 0.677 NA 63 38 9.40535e-28 1.53631e-27 0.00361 1 0 APBA2 321 broad.mit.edu 37 15 29406125 29406125 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:29406125G>T uc001zck.2 + 13 2291 c.2084G>T c.(2083-2085)CGT>CTT p.R695L APBA2_uc010uat.1_Missense_Mutation_p.R683L|APBA2_uc001zcl.2_Missense_Mutation_p.R683L NM_005503 NP_005494 Q99767 APBA2_HUMAN amyloid beta A4 precursor protein-binding, 695 PDZ 2. nervous system development|protein transport protein binding 0 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) GGGGGCGTCCGTGTGGGCCAC 0.627 NA 29 119 1.39806e-14 1.85576e-14 0.008361 1 0 TRPM1 4308 broad.mit.edu 37 15 31294182 31294182 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:31294182C>G uc001zfm.2 - 27 4783 c.4655G>C c.(4654-4656)AGT>ACT p.S1552T TRPM1_uc010azy.2_Missense_Mutation_p.S1459T|TRPM1_uc001zfl.2_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 1552 Cytoplasmic (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) TCCATGTAAACTTTTTGACCT 0.428 NA 75 15 0 0 0.00361 0 0 RYR3 6263 broad.mit.edu 37 15 33822819 33822819 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:33822819C>A uc001zhi.2 + 4 376 c.306C>A c.(304-306)ACC>ACA p.T102T RYR3_uc010bar.2_Silent_p.T102T NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 102 Cytoplasmic (By similarity).|MIR 1. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GCCACAGGACCCTGTTATACG 0.512 NA 8 7 2.17888e-05 2.37539e-05 0.006214 1 0 RYR3 6263 broad.mit.edu 37 15 34105127 34105127 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:34105127C>T uc001zhi.2 + 73 10391 c.10321C>T c.(10321-10323)CCT>TCT p.P3441S RYR3_uc010bar.2_Missense_Mutation_p.P3436S NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 3441 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GAGTGAAGAACCTTTCAATCC 0.458 NA 36 4 0 0 0.004878 0 0 AQR 9716 broad.mit.edu 37 15 35224619 35224619 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:35224619C>A uc001ziv.2 - 11 981 c.800G>T c.(799-801)AGG>ATG p.R267M NM_014691 NP_055506 O60306 AQR_HUMAN aquarius 267 catalytic step 2 spliceosome RNA binding large_intestine(1) 1 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) AAACCAGCGCCTTGTGGGTAG 0.428 NA 18 26 2.94398e-08 3.44236e-08 0.007413 1 0 C15orf41 84529 broad.mit.edu 37 15 37001480 37001480 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:37001480G>T uc001zje.3 + 9 851 c.601G>T c.(601-603)GTA>TTA p.V201L C15orf41_uc001zjd.2_Missense_Mutation_p.V201L|C15orf41_uc010bbb.1_Missense_Mutation_p.V103L|C15orf41_uc001zjf.2_Missense_Mutation_p.V103L|C15orf41_uc010uci.1_Missense_Mutation_p.V103L NM_001130010 NP_001123482 Q9Y2V0 CO041_HUMAN hypothetical protein LOC84529 isoform 1 201 protein binding pancreas(1) 1 all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222) all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11) CATTTTACAAGTACCAGTTGG 0.264 NA 8 2 4.68919e-08 5.45661e-08 0.008291 1 0 C15orf23 90417 broad.mit.edu 37 15 40675071 40675071 + Missense_Mutation SNP T T G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:40675071T>G uc001zll.2 + 1 150 c.35T>G c.(34-36)GTT>GGT p.V12G C15orf23_uc010ucp.1_Missense_Mutation_p.V12G|C15orf23_uc001zlo.2_Missense_Mutation_p.V12G|C15orf23_uc001zlm.2_RNA|C15orf23_uc001zln.2_RNA NM_033286 NP_150628 Q9Y448 T4AF1_HUMAN TRAF4 associated factor 1 isoform a 12 nucleus protein binding ovary(1)|skin(1) 2 all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798) CTGGACAGAGTTTTCCGTACA 0.592 NA 20 5 0 0 0.008871 0 0 C15orf23 90417 broad.mit.edu 37 15 40675205 40675205 + Nonsense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:40675205G>T uc001zll.2 + 1 284 c.169G>T c.(169-171)GAG>TAG p.E57* C15orf23_uc010ucp.1_Nonsense_Mutation_p.E57*|C15orf23_uc001zlo.2_Nonsense_Mutation_p.E57*|C15orf23_uc001zlm.2_RNA|C15orf23_uc001zln.2_RNA NM_033286 NP_150628 Q9Y448 T4AF1_HUMAN TRAF4 associated factor 1 isoform a 57 nucleus protein binding ovary(1)|skin(1) 2 all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798) TCTTTTAAACGAGAGCGAGAA 0.622 NA 41 19 1.89013e-27 3.07702e-27 0.00361 1 0 DLL4 54567 broad.mit.edu 37 15 41228552 41228552 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:41228552A>G uc001zng.1 + 9 1687 c.1367A>G c.(1366-1368)CAT>CGT p.H456R NM_019074 NP_061947 Q9NR61 DLL4_HUMAN delta-like 4 protein precursor 456 EGF-like 7.|Extracellular (Potential). blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway integral to membrane|plasma membrane calcium ion binding|Notch binding breast(2) 2 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) GGCACTTGCCATGACCTGGAG 0.642 NA 10 0 0 0 0.006214 0 0 CDAN1 146059 broad.mit.edu 37 15 43017718 43017718 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:43017718A>G uc001zql.2 - 26 3536 c.3419T>C c.(3418-3420)GTG>GCG p.V1140A CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_Missense_Mutation_p.V466A NM_138477 NP_612486 Q8IWY9 CDAN1_HUMAN codanin 1 1140 integral to membrane protein binding ovary(2) 2 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) CAGAAGCCCCACATTTCTTGG 0.572 NA 61 9 0 0 0.00361 0 0 CDAN1 146059 broad.mit.edu 37 15 43028533 43028533 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:43028533G>A uc001zql.2 - 2 653 c.536C>T c.(535-537)CCT>CTT p.P179L CDAN1_uc001zqk.2_5'Flank|CDAN1_uc010bcx.1_5'Flank|uc001zqm.2_5'Flank NM_138477 NP_612486 Q8IWY9 CDAN1_HUMAN codanin 1 179 integral to membrane protein binding ovary(2) 2 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) GCCTACGGGAGGGAACTCCTC 0.667 NA 21 7 0 0 0.005443 0 0 CATSPER2 117155 broad.mit.edu 37 15 43939616 43939616 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:43939616C>A uc001zsh.2 - 3 410 c.195G>T c.(193-195)GTG>GTT p.V65V CATSPER2_uc010bdm.2_RNA|CATSPER2_uc001zsi.2_Silent_p.V65V|CATSPER2_uc001zsj.2_Silent_p.V65V|CATSPER2_uc001zsk.2_Silent_p.V65V|CATSPER2_uc001zsl.1_RNA NM_172095 NP_742093 Q96P56 CTSR2_HUMAN sperm-associated cation channel 2 isoform 2 65 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|protein binding|voltage-gated ion channel activity ovary(1) 1 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) TAGAGAAACGCACTAGCTGGT 0.438 NA 74 13 5.04879e-28 8.27488e-28 0.00361 1 0 TRIM69 140691 broad.mit.edu 37 15 45028906 45028906 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:45028906G>C uc001zuf.2 + 2 899 c.4G>C c.(4-6)GAG>CAG p.E2Q TRIM69_uc001zui.1_5'UTR|TRIM69_uc010bdy.1_5'UTR|TRIM69_uc001zug.1_Missense_Mutation_p.E2Q|TRIM69_uc001zuh.1_Missense_Mutation_p.E2Q NM_182985 NP_892030 Q86WT6 TRI69_HUMAN tripartite motif-containing 69 isoform a 2 Necessary for nuclear localization (By similarity). apoptosis nuclear speck zinc ion binding 0 all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141) AAGCTTCATGGAGGTGAGTGA 0.483 Pancreas(84;519 1450 1802 20427 34706) NA 15 4 0 0 0.003163 0 0 TRPM7 54822 broad.mit.edu 37 15 50905990 50905990 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:50905990G>A uc001zyt.3 - 15 1948 c.1684C>T c.(1684-1686)CAT>TAT p.H562Y TRPM7_uc010bew.1_Missense_Mutation_p.H562Y|TRPM7_uc001zyu.2_Missense_Mutation_p.H120Y NM_017672 NP_060142 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, 562 Cytoplasmic (Potential). cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1) 10 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) AAAGATTCATGACTCTTTCGC 0.383 NA 7 18 0 0 0.004482 0 0 GNB5 10681 broad.mit.edu 37 15 52420406 52420406 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:52420406G>A uc002abt.1 - 10 964 c.899C>T c.(898-900)TCA>TTA p.S300L GNB5_uc002abr.1_Missense_Mutation_p.S258L|GNB5_uc002abs.1_Missense_Mutation_p.S188L NM_016194 NP_057278 O14775 GBB5_HUMAN guanine nucleotide-binding protein, beta-5 300 WD 5. heterotrimeric G-protein complex GTPase activity|signal transducer activity lung(1) 1 all cancers(107;0.0163) AGCGTCATCTGACCCTGAAGC 0.423 NA 23 12 0 0 0.007291 0 0 UNC13C 440279 broad.mit.edu 37 15 54306850 54306850 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:54306850C>A uc002ack.2 + 1 1750 c.1750C>A c.(1750-1752)CGG>AGG p.R584R NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 584 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) ATCTTCGGACCGGGAGCTATG 0.453 NA 18 7 5.01169e-05 5.42396e-05 0.00499 1 0 RFX7 64864 broad.mit.edu 37 15 56387748 56387748 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:56387748T>C uc010bfn.2 - 9 2178 c.2178A>G c.(2176-2178)ATA>ATG p.I726M RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Missense_Mutation_p.I540M NM_022841 NP_073752 Q2KHR2 RFX7_HUMAN regulatory factor X domain containing 2 629 regulation of transcription, DNA-dependent nucleus DNA binding 0 GATTTGCTCCTATGTGTGAAC 0.413 NA 19 11 0 0 0.007413 0 0 FAM63B 54629 broad.mit.edu 37 15 59102480 59102480 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:59102480G>A uc002afj.2 + 4 1217 c.1015G>A c.(1015-1017)GTA>ATA p.V339I FAM63B_uc002afi.2_Missense_Mutation_p.V339I|FAM63B_uc002afk.2_RNA|FAM63B_uc002afl.2_RNA NM_001040450 NP_001035540 Q8NBR6 FA63B_HUMAN hypothetical protein LOC54629 isoform a 339 central_nervous_system(1) 1 AGGCCTGGATGTAAATGTAAG 0.368 NA 18 13 0 0 0.002299 0 0 PML 5371 broad.mit.edu 37 15 74315359 74315359 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:74315359G>T uc002awv.2 + 3 933 c.793G>T c.(793-795)GTC>TTC p.V265F PML_uc002awm.2_Missense_Mutation_p.V265F|PML_uc002awl.2_Missense_Mutation_p.V265F|PML_uc002awj.1_Missense_Mutation_p.V265F|PML_uc002awk.2_Missense_Mutation_p.V265F|PML_uc002awn.2_Missense_Mutation_p.V265F|PML_uc002awo.2_Missense_Mutation_p.V265F|PML_uc002awp.2_Missense_Mutation_p.V265F|PML_uc002awq.2_Missense_Mutation_p.V265F|PML_uc002awr.2_Missense_Mutation_p.V265F|PML_uc002aws.2_Missense_Mutation_p.V265F|PML_uc002awt.2_Missense_Mutation_p.V265F|PML_uc002awu.2_Missense_Mutation_p.V265F|PML_uc010ule.1_Intron|PML_uc002aww.1_Missense_Mutation_p.V180F|PML_uc002awx.2_Missense_Mutation_p.V23F|PML_uc002awy.2_5'Flank NM_033238 NP_150241 P29590 PML_HUMAN promyelocytic leukemia protein isoform 1 265 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding central_nervous_system(2)|kidney(2)|breast(1) 5 GCACGCGGCCGTCGGCCAGCT 0.701 NA T RARA|PAX5 APL|ALL 18 5 1.67942e-08 1.97446e-08 0.006122 1 0 ISLR2 57611 broad.mit.edu 37 15 74426880 74426880 + Silent SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:74426880A>T uc002axd.2 + 4 2554 c.1785A>T c.(1783-1785)GCA>GCT p.A595A ISLR2_uc002axe.2_Silent_p.A595A|ISLR2_uc010bjg.2_Silent_p.A595A|ISLR2_uc010bjf.2_Silent_p.A595A NM_001130136 NP_001123608 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing 595 Helical; (Potential). positive regulation of axon extension cell surface|integral to membrane|plasma membrane 0 TCATAGTGGCAGTGAGCGTAT 0.632 NA OREG0023277 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 8 0 0 0.004878 0 0 CSPG4 1464 broad.mit.edu 37 15 75977804 75977804 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:75977804G>T uc002baw.2 - 4 4121 c.4028C>A c.(4027-4029)CCC>CAC p.P1343H NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 precursor 1343 Interaction with COL5A1 (By similarity).|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity ovary(2)|pancreas(1) 3 GCCCTCGAGGGGAGCACCCAG 0.672 NA 18 5 2.4624e-09 2.94878e-09 0.008871 1 0 IL16 3603 broad.mit.edu 37 15 81578048 81578048 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:81578048C>A uc002bgh.3 + 10 1585 c.1209C>A c.(1207-1209)GAC>GAA p.D403E IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Missense_Mutation_p.D403E|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.D445E|IL16_uc002bgg.2_Missense_Mutation_p.D403E|IL16_uc002bgi.1_5'UTR NM_172217 NP_757366 Q14005 IL16_HUMAN interleukin 16 isoform 2 403 PDZ 2.|Interaction with GRIN2A. immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity ovary(2)|lung(1)|skin(1) 4 GGTGTGGGGACGAGATTGTGG 0.527 NA 40 17 1.60099e-16 2.20692e-16 0.004878 1 0 BNC1 646 broad.mit.edu 37 15 83926531 83926531 + Missense_Mutation SNP C C A rs138195790 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:83926531C>A uc002bjt.1 - 5 2736 c.2648G>T c.(2647-2649)GGC>GTC p.G883V BNC1_uc010uos.1_Missense_Mutation_p.G871V NM_001717 NP_001708 Q01954 BNC1_HUMAN basonuclin 1 883 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 AAGCACAGTGCCTTCCTCACT 0.552 NA 91 22 1.52223e-32 2.58472e-32 0.00361 1 0 ADAMTSL3 57188 broad.mit.edu 37 15 84611740 84611740 + Nonsense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:84611740C>A uc002bjz.3 + 19 2620 c.2396C>A c.(2395-2397)TCA>TAA p.S799* ADAMTSL3_uc010bmt.1_Nonsense_Mutation_p.S799*|ADAMTSL3_uc010bmu.1_Nonsense_Mutation_p.S799* NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 799 TSP type-1 6. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) TTGAATCTCTCAGATGAATTG 0.522 NA 15 13 1.3612e-06 1.52348e-06 0.003163 1 0 ADAMTSL3 57188 broad.mit.edu 37 15 84639249 84639249 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:84639249G>T uc002bjz.3 + 20 2728 c.2504G>T c.(2503-2505)TGT>TTT p.C835F ADAMTSL3_uc010bmt.1_Missense_Mutation_p.C835F|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.C835F NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 835 TSP type-1 7. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) TCTGTCAGTTGTGGTGTTGGA 0.517 NA 74 20 2.32478e-39 4.09483e-39 0.00361 1 0 AGBL1 123624 broad.mit.edu 37 15 86686992 86686992 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:86686992C>A uc002blz.1 + 2 120 c.40C>A c.(40-42)CTG>ATG p.L14M NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 14 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 TCTGCAGACCCTGGTAGACAC 0.542 NA 44 6 1.61863e-15 2.19525e-15 0.00361 1 0 HAPLN3 145864 broad.mit.edu 37 15 89421289 89421289 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:89421289C>A uc002bnc.2 - 5 1123 c.995G>T c.(994-996)TGT>TTT p.C332F HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Missense_Mutation_p.C394F NM_178232 NP_839946 Q96S86 HPLN3_HUMAN hyaluronan and proteoglycan link protein 3 332 Link 2. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding 0 Lung NSC(78;0.0392)|all_lung(78;0.077) TGGGGGCCCACAGTTAGGATG 0.652 NA 74 23 9.63364e-24 1.50133e-23 0.00361 1 0 RHBDF1 64285 broad.mit.edu 37 16 113013 113013 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:113013C>A uc002cfl.3 - 8 778 c.630G>T c.(628-630)TCG>TCT p.S210S RHBDF1_uc010uty.1_Silent_p.S233S|RHBDF1_uc010utz.1_Silent_p.S210S|RHBDF1_uc010bqo.1_RNA NM_022450 NP_071895 Q96CC6 RHDF1_HUMAN rhomboid family 1 210 Cytoplasmic (Potential). cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane growth factor binding|serine-type endopeptidase activity ovary(1)|pancreas(1) 2 all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159) TCTTGGCCACCGACTCTCGCT 0.701 NA 13 11 1.15088e-07 1.32252e-07 0.004007 1 0 SOX8 30812 broad.mit.edu 37 16 1035161 1035161 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:1035161C>A uc002ckn.2 + 3 1231 c.1116C>A c.(1114-1116)CCC>CCA p.P372P NM_014587 NP_055402 P57073 SOX8_HUMAN SRY (sex determining region Y)-box 8 372 adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis cytoplasm|nucleus central_nervous_system(1)|skin(1) 2 Hepatocellular(780;0.00308) cggccgcccccgccggccccT 0.612 NA 8 18 0.00307968 0.00318168 0.00308 1 0 E4F1 1877 broad.mit.edu 37 16 2284322 2284322 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:2284322A>T uc002cpm.2 + 10 1574 c.1526A>T c.(1525-1527)CAC>CTC p.H509L E4F1_uc010bsi.2_Missense_Mutation_p.H509L|E4F1_uc010bsj.2_Intron|DNASE1L2_uc002cpn.2_5'Flank|DNASE1L2_uc002cpo.2_5'Flank|DNASE1L2_uc002cpp.2_5'Flank|DNASE1L2_uc002cpq.2_5'Flank NM_004424 NP_004415 Q66K89 E4F1_HUMAN p120E4F 509 Mediates interaction with CDKN2A.|Interaction with BMI1.|C2H2-type 6. cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1) 1 GTGCGTGGCCACCGGCGCGTC 0.642 NA 19 25 0 0 0.007413 0 0 CREBBP 1387 broad.mit.edu 37 16 3900688 3900688 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:3900688C>A uc002cvv.2 - 2 612 c.408G>T c.(406-408)CAG>CAT p.Q136H CREBBP_uc002cvw.2_Missense_Mutation_p.Q136H NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 136 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TGCTGGCTGCCTGTTTAGGCA 0.632 NA T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybsyndrome 36 43 1.57351e-24 2.47614e-24 0.003755 1 0 CORO7 79585 broad.mit.edu 37 16 4411088 4411088 + Splice_Site SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:4411088T>A uc002cwh.3 - 19 1895 c.1775_splice c.e19-1 p.G592_splice CORO7_uc002cwe.2_Splice_Site|CORO7_uc002cwf.2_Splice_Site_p.G592_splice|CORO7_uc002cwg.3_Splice_Site_p.G372_splice|CORO7_uc010uxh.1_Splice_Site_p.G574_splice|CORO7_uc010uxi.1_Splice_Site_p.G507_splice|CORO7_uc002cwi.1_Splice_Site_p.G372_splice|CORO7_uc010uxj.1_Splice_Site NM_024535 NP_078811 P57737 CORO7_HUMAN coronin 7 cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction 0 CCGTGTGGCCTGGAGGAAGGC 0.627 NA 9 24 0 0 0.004482 0 0 UBN1 29855 broad.mit.edu 37 16 4924437 4924437 + Missense_Mutation SNP G G T rs150281333 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:4924437G>T uc002cyb.2 + 15 2365 c.2026G>T c.(2026-2028)GTG>TTG p.V676L UBN1_uc010uxw.1_Missense_Mutation_p.V676L|UBN1_uc002cyc.2_Missense_Mutation_p.V676L NM_001079514 NP_001072982 Q9NPG3 UBN1_HUMAN ubinuclein 1 676 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity skin(2) 2 GGTGGAAGCCGTGTCCAAGGA 0.547 NA 57 74 3.40343e-31 5.72866e-31 0.00361 1 0 A2BP1 54715 broad.mit.edu 37 16 7703943 7703943 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:7703943A>G uc002cys.2 + 12 1872 c.884A>G c.(883-885)TAC>TGC p.Y295C A2BP1_uc010buf.1_Missense_Mutation_p.Y295C|A2BP1_uc002cyr.1_Missense_Mutation_p.Y294C|A2BP1_uc002cyt.2_Missense_Mutation_p.Y268C|A2BP1_uc010uxz.1_Missense_Mutation_p.Y338C|A2BP1_uc010uya.1_Missense_Mutation_p.Y252C|A2BP1_uc002cyv.1_Missense_Mutation_p.Y295C|A2BP1_uc010uyb.1_Missense_Mutation_p.Y295C|A2BP1_uc002cyw.2_Missense_Mutation_p.Y315C|A2BP1_uc002cyy.2_Missense_Mutation_p.Y315C|A2BP1_uc002cyx.2_Missense_Mutation_p.Y315C|A2BP1_uc010uyc.1_Missense_Mutation_p.Y288C NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN ataxin 2-binding protein 1 isoform 4 295 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding 0 all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211) Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499) ATCCCGGCCTACGGCGGGTAA 0.617 NA 5 8 0 0 0.000602 0 0 C16orf68 79091 broad.mit.edu 37 16 8722679 8722679 + Nonsense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:8722679G>T uc002cyz.2 + 3 502 c.226G>T c.(226-228)GAG>TAG p.E76* C16orf68_uc002cza.2_Nonsense_Mutation_p.E76* NM_024109 NP_077014 Q9BUU2 MET22_HUMAN hypothetical protein LOC79091 76 methyltransferase activity 0 TCACACAAAGGAGCCTCCTTC 0.552 NA 14 39 2.23348e-06 2.47965e-06 0.004007 1 0 C16orf68 79091 broad.mit.edu 37 16 8722940 8722940 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:8722940G>C uc002cyz.2 + 3 763 c.487G>C c.(487-489)GGC>CGC p.G163R C16orf68_uc002cza.2_Missense_Mutation_p.G107R NM_024109 NP_077014 Q9BUU2 MET22_HUMAN hypothetical protein LOC79091 163 methyltransferase activity 0 GGAAGCACAAGGCAGCCCGCA 0.547 NA 62 140 0 0 0.00361 0 0 KIAA0430 9665 broad.mit.edu 37 16 15715643 15715643 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:15715643C>A uc002ddr.2 - 12 2779 c.2586G>T c.(2584-2586)AAG>AAT p.K862N KIAA0430_uc002ddq.2_Missense_Mutation_p.K696N|KIAA0430_uc010uzv.1_Missense_Mutation_p.K858N|KIAA0430_uc010uzw.1_Missense_Mutation_p.K861N NM_014647 NP_055462 Q9Y4F3 LKAP_HUMAN limkain b1 861 RRM. peroxisome nucleotide binding|RNA binding 0 AGACCAGGATCTTTTTGCTGC 0.428 NA 14 27 2.31682e-05 2.52152e-05 0.003163 1 0 ABCC1 4363 broad.mit.edu 37 16 16146667 16146667 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:16146667G>T uc010bvi.2 + 11 1642 c.1467G>T c.(1465-1467)ACG>ACT p.T489T ABCC1_uc010bvj.2_Silent_p.T489T|ABCC1_uc010bvk.2_Silent_p.T489T|ABCC1_uc010bvl.2_Silent_p.T489T|ABCC1_uc010bvm.2_Silent_p.T489T|ABCC1_uc002del.3_Silent_p.T373T|ABCC1_uc010bvn.2_Silent_p.T352T NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 489 Cytoplasmic.|ABC transmembrane type-1 1. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4) 4 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) AGACCAAGACGTATCAGGTAA 0.582 NA 42 62 5.20006e-24 8.13666e-24 0.002852 1 0 ABCC6P1 653190 broad.mit.edu 37 16 18602570 18602570 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:18602570G>T uc002dfg.2 + 8 968 c.768G>T c.(766-768)CTG>CTT p.L256L ABCC6P1_uc010vam.1_Silent_p.L199L NR_003569 SubName: Full=cDNA FLJ51267, highly similar to Multidrug resistance-associated protein 6; 0 CCTTCCTCCTGGGGACCCTCA 0.597 NA 32 49 1.26612e-14 1.68409e-14 0.003271 1 0 UMOD 7369 broad.mit.edu 37 16 20355356 20355356 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:20355356G>T uc002dgz.2 - 6 1450 c.1321C>A c.(1321-1323)CCA>ACA p.P441T UMOD_uc002dha.2_Missense_Mutation_p.P441T|UMOD_uc002dhb.2_Missense_Mutation_p.P474T NM_003361 NP_003352 P07911 UROM_HUMAN uromodulin precursor 441 ZP. cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding ovary(1)|skin(1) 2 CTGACCATTGGCTGTAGGGCG 0.547 NA 21 27 1.50039e-11 1.88181e-11 0.001882 1 0 PDILT 204474 broad.mit.edu 37 16 20376864 20376864 + Splice_Site SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:20376864T>C uc002dhc.1 - 9 1340 c.1117_splice c.e9-1 p.K373_splice NM_174924 NP_777584 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity large_intestine(1) 1 TTGATGTTTCTAGGAAGCACA 0.448 NA 36 53 0 0 0.00874 0 0 ACSM2A 123876 broad.mit.edu 37 16 20486999 20486999 + Nonsense_Mutation SNP C C A rs145558453 byFrequency TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:20486999C>A uc010bwe.2 + 9 1241 c.1002C>A c.(1000-1002)TGC>TGA p.C334* ACSM2A_uc010vax.1_Nonsense_Mutation_p.C255*|ACSM2A_uc002dhf.3_Nonsense_Mutation_p.C334*|ACSM2A_uc002dhg.3_Nonsense_Mutation_p.C334*|ACSM2A_uc010vay.1_Nonsense_Mutation_p.C255*|ACSM2A_uc002dhh.3_5'UTR NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 334 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 TACAGAACTGCGTCACTGTAG 0.517 NA 49 84 1.30916e-28 2.16034e-28 0.00361 1 0 DNAH3 55567 broad.mit.edu 37 16 21133343 21133343 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:21133343G>A uc010vbe.1 - 10 1507 c.1507C>T c.(1507-1509)CCA>TCA p.P503S DNAH3_uc002die.2_Missense_Mutation_p.P474S NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 503 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) TCAAAAGATGGATTGAAGACA 0.378 NA 21 17 0 0 0.010504 0 0 ANKS4B 257629 broad.mit.edu 37 16 21261441 21261441 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:21261441C>A uc010bwp.1 + 2 597 c.554C>A c.(553-555)CCT>CAT p.P185H CRYM_uc010bwq.1_Intron NM_145865 NP_665872 Q8N8V4 ANS4B_HUMAN harmonin-interacting ankyrin-repeat containing 185 ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0565) AGATCATCCCCTTCAAATGCT 0.473 NA 22 36 1.22574e-08 1.44812e-08 0.002299 1 0 IL21R 50615 broad.mit.edu 37 16 27456035 27456035 + Nonsense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:27456035C>A uc002doq.1 + 6 913 c.680C>A c.(679-681)TCA>TAA p.S227* IL21R_uc002dor.1_Nonsense_Mutation_p.S227*|IL21R_uc002dos.1_Nonsense_Mutation_p.S227* NM_181078 NP_851564 Q9HBE5 IL21R_HUMAN interleukin 21 receptor precursor 227 Extracellular (Potential). natural killer cell activation integral to membrane interleukin-21 receptor activity ovary(2)|lung(1)|breast(1) 4 CAGACCCAGTCAGAGGGTAGG 0.582 NA T BCL6 NHL 17 40 3.32936e-07 3.78318e-07 0.006122 1 0 GTF3C1 2975 broad.mit.edu 37 16 27476583 27476583 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:27476583G>T uc002dov.1 - 33 5393 c.5353C>A c.(5353-5355)CAG>AAG p.Q1785K GTF3C1_uc002dou.2_Missense_Mutation_p.Q1785K NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1785 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 CAGCTCACCTGGATGCAATCT 0.572 NA 21 39 3.5997e-14 4.7295e-14 0.002299 1 0 GTF3C1 2975 broad.mit.edu 37 16 27497373 27497373 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:27497373T>A uc002dov.1 - 24 3843 c.3803A>T c.(3802-3804)CAG>CTG p.Q1268L GTF3C1_uc002dou.2_Missense_Mutation_p.Q1268L NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1268 transcription factor TFIIIC complex DNA binding|protein binding p.Q1268Q(1) ovary(2)|pancreas(1)|breast(1)|skin(1) 5 CCCATCCTCCTGCATAGACCA 0.602 NA 57 71 0 0 0.00361 0 0 APOB48R 55911 broad.mit.edu 37 16 28507384 28507384 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:28507384C>T uc002dqb.1 + 2 1032 c.1022C>T c.(1021-1023)TCA>TTA p.S341L uc010vct.1_Intron|APOB48R_uc010byg.1_5'UTR NM_018690 NP_061160 Q0VD83 APOBR_HUMAN apolipoprotein B48 receptor 341 Glu-rich. cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle 0 GGGATAGCCTCAGGCGGGGAG 0.721 NA 10 16 0 0 0.008291 0 0 ATP2A1 487 broad.mit.edu 37 16 28909350 28909350 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:28909350C>T uc002dro.1 + 13 1633 c.1449C>T c.(1447-1449)TTC>TTT p.F483F uc010vct.1_Intron|ATP2A1_uc002drn.1_Silent_p.F483F|ATP2A1_uc002drp.1_Silent_p.F358F NM_173201 NP_775293 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, fast twitch 1 isoform 483 Cytoplasmic (By similarity). apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 AGAAGGAATTCACCCTGGAGT 0.512 NA 46 79 0 0 0.002852 0 0 CD19 930 broad.mit.edu 37 16 28948976 28948976 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:28948976G>T uc002drs.2 + 11 1466 c.1404G>T c.(1402-1404)CTG>CTT p.L468L uc010vct.1_Intron|CD19_uc010byo.1_Silent_p.L468L NM_001770 NP_001761 P15391 CD19_HUMAN CD19 antigen precursor 468 Cytoplasmic (Potential). cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity ovary(2)|central_nervous_system(1) 3 ATGAAGAGCTGACCCAGCCGG 0.572 NA 13 26 0.000219431 0.000232792 0.00245 1 0 MAPK3 5595 broad.mit.edu 37 16 30128053 30128053 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:30128053C>A uc002dws.2 - 8 1176 c.1076G>T c.(1075-1077)CGG>CTG p.R359L uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.2_Missense_Mutation_p.R245L|MAPK3_uc002dwv.3_Missense_Mutation_p.R315L|MAPK3_uc002dwt.2_3'UTR|MAPK3_uc002dwu.2_RNA|MAPK3_uc010bzp.2_RNA NM_002746 NP_002737 P27361 MK03_HUMAN mitogen-activated protein kinase 3 isoform 1 359 activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter cytosol|nucleoplasm ATP binding|MAP kinase activity|phosphatase binding 0 Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605) CTCCTTCAGCCGCTCCTTAGG 0.642 NA 28 34 4.59853e-10 5.5864e-10 0.005443 1 0 SETD1A 9739 broad.mit.edu 37 16 30977498 30977498 + Nonsense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:30977498G>T uc002ead.1 + 8 2982 c.2296G>T c.(2296-2298)GGA>TGA p.G766* NM_014712 NP_055527 O15047 SET1A_HUMAN SET domain containing 1A 766 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding ovary(2)|skin(1) 3 CTCAGTCTCGGGAGAGGAGGC 0.677 NA 16 13 6.72482e-11 8.32105e-11 0.003163 1 0 SETD1A 9739 broad.mit.edu 37 16 30990664 30990664 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:30990664C>T uc002ead.1 + 14 4243 c.3557C>T c.(3556-3558)CCG>CTG p.P1186L NM_014712 NP_055527 O15047 SET1A_HUMAN SET domain containing 1A 1186 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding ovary(2)|skin(1) 3 CCAGCCACACCGCCGCAGGCC 0.687 NA 12 29 0 0 0.003163 0 0 FUS 2521 broad.mit.edu 37 16 31196353 31196353 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:31196353G>C uc002ebf.2 + 6 700 c.617G>C c.(616-618)GGT>GCT p.G206A FUS_uc002ebe.1_Missense_Mutation_p.G202A|FUS_uc002ebh.2_Missense_Mutation_p.G205A|FUS_uc002ebg.2_Missense_Mutation_p.V13L|FUS_uc002ebi.2_Missense_Mutation_p.G206A|FUS_uc002ebj.2_Missense_Mutation_p.V13L|FUS_uc002ebk.1_5'Flank NM_004960 NP_004951 P35637 FUS_HUMAN fusion (involved in t(12;16) in malignant 206 Gly-rich. cell death|nuclear mRNA splicing, via spliceosome nucleoplasm DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding FUS/DDIT3(623)|FUS/ERG(163)|FUS/CREB3L2(158)|FUS/CREB3L1(6)|FUS/ATF1(4)|FUS/FEV(2) soft_tissue(791)|haematopoietic_and_lymphoid_tissue(153)|bone(12)|breast(2) 958 Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121) GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209) ggtggcagcggtggCTATGGA 0.214 NA T DDIT3|ERG|FEV|ATF1|CREB3L2|CREB3L1 liposarcoma|AML|Ewing sarcoma|angiomatoid fibrous histiocytoma|fibromyxoid sarcoma 8 13 0 0 0.00308 0 0 TRIM72 493829 broad.mit.edu 37 16 31230804 31230804 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:31230804G>T uc002ebn.1 + 4 910 c.681G>T c.(679-681)GAG>GAT p.E227D PYDC1_uc002ebo.2_5'Flank NM_001008274 NP_001008275 Q6ZMU5 TRI72_HUMAN tripartite motif-containing 72 227 exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization cytoplasmic vesicle membrane|sarcolemma phosphatidylserine binding|zinc ion binding 0 AGGTCCTGGAGGAGGTGGCGG 0.667 NA 15 23 0.000219431 0.000232792 0.00245 1 0 ITGAX 3687 broad.mit.edu 37 16 31382974 31382974 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:31382974T>A uc002ebu.1 + 17 2096 c.2029T>A c.(2029-2031)TTG>ATG p.L677M ITGAX_uc002ebt.2_Missense_Mutation_p.L677M NM_000887 NP_000878 P20702 ITAX_HUMAN integrin alpha X precursor 677 Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CTCTGTGACCTTGGACCTGGC 0.637 NA 32 38 0 0 0.004289 0 0 ITGAX 3687 broad.mit.edu 37 16 31393210 31393210 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:31393210C>A uc002ebu.1 + 30 3541 c.3474C>A c.(3472-3474)AGC>AGA p.S1158R ITGAX_uc002ebt.2_Missense_Mutation_p.S1158R NM_000887 NP_000878 P20702 ITAX_HUMAN integrin alpha X precursor 1158 Cytoplasmic (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 AGACCCCCAGCCCGCCCAGTG 0.562 NA 31 34 4.74835e-14 6.22176e-14 0.002096 1 0 ARMC5 79798 broad.mit.edu 37 16 31471207 31471207 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:31471207C>T uc002ecc.2 + 1 891 c.362C>T c.(361-363)CCG>CTG p.P121L ARMC5_uc010vfn.1_Missense_Mutation_p.P216L|ARMC5_uc010vfo.1_Missense_Mutation_p.P153L|ARMC5_uc002eca.3_Missense_Mutation_p.P121L|ARMC5_uc010vfp.1_Missense_Mutation_p.P121L|ARMC5_uc002ecb.2_Missense_Mutation_p.P121L NM_001105247 NP_001098717 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 isoform a 121 binding pancreas(1) 1 AGTCCTACGCCGCCAGTGCGC 0.592 NA 11 11 0 0 0.008291 0 0 ZNF267 10308 broad.mit.edu 37 16 31926245 31926245 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:31926245G>C uc002ecs.3 + 4 884 c.675G>C c.(673-675)TTG>TTC p.L225F NM_003414 NP_003405 Q14586 ZN267_HUMAN zinc finger protein 267 225 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|breast(1)|skin(1) 4 AAAAAACCTTGAACCAAAGCT 0.303 NA 10 12 0 0 0.006214 0 0 Unknown 0 broad.mit.edu 37 16 33784664 33784664 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:33784664T>A uc010vgb.1 + 2 73 c.53T>A c.(52-54)ATC>AAC p.I18N RecName: Full=Transporter; NA GGCATCTTCATCTTCAACGTT 0.423 NA 6 26 0 0 0.001984 0 0 Unknown 0 broad.mit.edu 37 16 33784689 33784689 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:33784689G>T uc010vgb.1 + 2 98 c.78G>T c.(76-78)CCG>CCT p.P26P RecName: Full=Transporter; NA ACTACGAGCCGCTGGTCTACA 0.478 NA 6 30 8.12818e-05 8.70909e-05 0.001984 1 0 MYLK3 91807 broad.mit.edu 37 16 46755035 46755035 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:46755035C>A uc002eei.3 - 9 2101 c.1985G>T c.(1984-1986)AGG>ATG p.R662M MYLK3_uc010vge.1_Missense_Mutation_p.R321M NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 662 Protein kinase. cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1) 7 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) ACCCCCTTACCTTCTGGCCAG 0.448 NA 33 14 1.26612e-14 1.68409e-14 0.003271 1 0 ABCC12 94160 broad.mit.edu 37 16 48174658 48174658 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:48174658G>T uc002efc.1 - 4 943 c.597C>A c.(595-597)TCC>TCA p.S199S ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Silent_p.S199S|ABCC12_uc010vgj.1_RNA NM_033226 NP_150229 Q96J65 MRP9_HUMAN ATP-binding cassette protein C12 199 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 all_cancers(37;0.0474)|all_lung(18;0.047) AAACCAAGGTGGAGAGCGCCA 0.517 NA 47 20 1.47857e-17 2.08423e-17 0.00361 1 0 ZNF423 23090 broad.mit.edu 37 16 49671721 49671721 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:49671721C>A uc002efs.2 - 5 1640 c.1342G>T c.(1342-1344)GAC>TAC p.D448Y ZNF423_uc010vgn.1_Missense_Mutation_p.D331Y NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 448 C2H2-type 10. cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) GGCATGGAGTCCAGGCAGATC 0.567 NA 44 18 9.84934e-19 1.41942e-18 0.002522 1 0 HERPUD1 9709 broad.mit.edu 37 16 56976133 56976133 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:56976133C>T uc002eke.1 + 7 1404 c.995C>T c.(994-996)CCC>CTC p.P332L HERPUD1_uc002ekf.1_Missense_Mutation_p.P331L|HERPUD1_uc002ekg.1_Missense_Mutation_p.P307L|HERPUD1_uc010cco.1_3'UTR|HERPUD1_uc010ccp.1_Missense_Mutation_p.P234L|HERPUD1_uc002ekh.1_Missense_Mutation_p.P150L NM_014685 NP_055500 Q15011 HERP1_HUMAN homocysteine-inducible, endoplasmic reticulum 332 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane protein binding 0 AATCAGGACCCCAACAATAAC 0.512 NA T ERG prostate 29 19 0 0 0.007291 0 0 GPR56 9289 broad.mit.edu 37 16 57689409 57689409 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:57689409C>T uc002emb.2 + 7 1159 c.867C>T c.(865-867)CTC>CTT p.L289L GPR56_uc002elz.1_Silent_p.L119L|GPR56_uc002ema.1_Silent_p.L114L|GPR56_uc002emc.2_Silent_p.L289L|GPR56_uc002emf.2_Silent_p.L289L|GPR56_uc010vhs.1_Silent_p.L289L|GPR56_uc002emd.2_Silent_p.L289L|GPR56_uc002eme.2_Silent_p.L289L|GPR56_uc010vht.1_Silent_p.L294L|GPR56_uc002emg.3_Silent_p.L289L|GPR56_uc010vhu.1_Silent_p.L114L NM_005682 NP_005673 Q9Y653 GPR56_HUMAN G protein-coupled receptor 56 isoform a 289 Extracellular (Potential). brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity 0 AGAGACTCCTCCTGGTGGACT 0.572 NA 16 7 0 0 0.007413 0 0 SLC9A5 6553 broad.mit.edu 37 16 67298304 67298304 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:67298304G>C uc002esm.2 + 13 1955 c.1892G>C c.(1891-1893)CGG>CCG p.R631P SLC9A5_uc010cee.2_Missense_Mutation_p.R336P|SLC9A5_uc010vji.1_Missense_Mutation_p.R135P NM_004594 NP_004585 Q14940 SL9A5_HUMAN solute carrier family 9 (sodium/hydrogen 631 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity ovary(1)|pancreas(1) 2 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) GCGCAGGAGCGGCAGGACAAG 0.582 NA 20 10 0 0 0.008871 0 0 GFOD2 81577 broad.mit.edu 37 16 67709088 67709089 + Missense_Mutation DNP CA CA AG TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 CA CA - - CA CA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:67709088_67709089CA>AG uc002eub.2 - 3 1422_1423 c.1127_1128TG>CT c.(1126-1128)CTG>CCT p.L376P GFOD2_uc002eua.1_RNA|GFOD2_uc002euc.2_Missense_Mutation_p.L271P NM_030819 NP_110446 Q3B7J2 GFOD2_HUMAN glucose-fructose oxidoreductase domain 376 proteinaceous extracellular matrix binding|oxidoreductase activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242) GTGCCTCACACAGGTTCTGGTT 0.624 NA 43 28 0 0 0.004672 0 0 CIRH1A 84916 broad.mit.edu 37 16 69184491 69184491 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:69184491C>A uc002ews.3 + 7 886 c.790C>A c.(790-792)CAG>AAG p.Q264K CIRH1A_uc002ewr.2_Missense_Mutation_p.Q264K|CIRH1A_uc002ewt.3_Missense_Mutation_p.Q181K|CIRH1A_uc010cfi.2_Missense_Mutation_p.Q181K|CIRH1A_uc010cfj.1_Missense_Mutation_p.Q83K NM_032830 NP_116219 Q969X6 CIR1A_HUMAN cirhin 264 WD 6. nucleolus protein binding 0 OV - Ovarian serous cystadenocarcinoma(108;0.125) CTTCCATTTTCAGCTGGTCCC 0.527 Melanoma(69;1156 1278 4951 8715 52012) NA OREG0023906 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 24 1.66425e-11 2.08597e-11 0.004878 1 0 GLG1 2734 broad.mit.edu 37 16 74487121 74487121 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:74487121C>A uc002fcy.3 - 26 3534 c.3484G>T c.(3484-3486)GGC>TGC p.G1162C GLG1_uc002fcx.2_Missense_Mutation_p.G1162C|GLG1_uc002fcw.3_Missense_Mutation_p.G1151C|GLG1_uc002fcz.3_Missense_Mutation_p.G579C NM_001145667 NP_001139139 Q92896 GSLG1_HUMAN golgi apparatus protein 1 isoform 3 1162 Helical; (Potential). Golgi membrane|integral to membrane receptor binding ovary(1)|breast(1) 2 CACATCAGGCCAATCAGGAAC 0.488 NA 35 24 1.30998e-17 1.84928e-17 0.005524 1 0 RFWD3 55159 broad.mit.edu 37 16 74662385 74662385 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:74662385T>A uc002fda.2 - 11 2032 c.1934A>T c.(1933-1935)AAC>ATC p.N645I RFWD3_uc010vmx.1_Missense_Mutation_p.N165I|RFWD3_uc010cgq.2_Missense_Mutation_p.N645I NM_018124 NP_060594 Q6PCD5 RFWD3_HUMAN ring finger and WD repeat domain 3 645 DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation nucleus MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding lung(2)|breast(1) 3 CCGGGAGCTGTTCTCTGTCTG 0.522 NA 40 16 0 0 0.004878 0 0 MON1B 22879 broad.mit.edu 37 16 77227493 77227493 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:77227493G>A uc002fez.2 + 3 624 c.294G>A c.(292-294)GGG>GGA p.G98G MON1B_uc010vnf.1_Intron|MON1B_uc010vng.1_Intron|MON1B_uc002ffa.2_5'Flank NM_014940 NP_055755 Q7L1V2 MON1B_HUMAN MON1 homolog B 98 protein binding 0 GCCAGGGCGGGGACCCCAGTG 0.617 NA 19 15 0 0 0.007413 0 0 ADAD2 161931 broad.mit.edu 37 16 84229633 84229633 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:84229633G>A uc002fhr.2 + 7 1379 c.1265G>A c.(1264-1266)AGC>AAC p.S422N ADAD2_uc002fhq.2_Missense_Mutation_p.S504N|uc002fhs.1_Intron NM_001145400 NP_001138872 Q8NCV1 ADAD2_HUMAN adenosine deaminase domain containing 2 isoform 422 A to I editase. RNA processing intracellular adenosine deaminase activity|double-stranded RNA binding 0 CCACTCTACAGCACCAGCCTC 0.677 NA 16 7 0 0 0.004007 0 0 FOXF1 2294 broad.mit.edu 37 16 86544356 86544356 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:86544356A>T uc002fjl.2 + 1 224 c.181A>T c.(181-183)ATC>TTC p.I61F uc002fjk.1_5'Flank NM_001451 NP_001442 Q12946 FOXF1_HUMAN forkhead box F1 61 Fork-head. branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding 0 CGTCATGGCCATCCAGAGTTC 0.647 NA 13 5 0 0 0.001855 0 0 CBFA2T3 863 broad.mit.edu 37 16 88968062 88968062 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:88968062G>T uc002fmm.1 - 2 340 c.154C>A c.(154-156)CCA>ACA p.P52T CBFA2T3_uc002fml.1_5'UTR|CBFA2T3_uc010cif.1_5'UTR|CBFA2T3_uc002fmn.1_Missense_Mutation_p.P52T NM_005187 NP_005178 O75081 MTG16_HUMAN myeloid translocation gene on chromosome 16 52 Mediates localization to the nucleus (By similarity).|Pro-rich.|Mediates interaction with PDE7A (in isoform 2).|Required for nucleolar targeting (in isoform 1). Breakpoint for translocation to form type-1 RUNX1-CBFA2T3 fusion protein. cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(3)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(80;0.0275) CTGTCCACTGGGGCTGCGACC 0.667 NA T RUNX1 AML 11 6 0.000673444 0.000705548 0.008291 1 0 ZNF276 92822 broad.mit.edu 37 16 89789078 89789078 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:89789078G>T uc002fos.3 + 2 442 c.345G>T c.(343-345)CGG>CGT p.R115R C16orf7_uc002fol.1_5'Flank|C16orf7_uc002fom.1_5'Flank|ZNF276_uc010ciq.2_5'UTR|ZNF276_uc002fop.2_Silent_p.R40R|ZNF276_uc002foq.3_Silent_p.R40R|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_5'UTR|ZNF276_uc010cis.2_5'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_5'Flank|ZNF276_uc010cit.1_5'Flank NM_001113525 NP_001106997 Q8N554 ZN276_HUMAN zinc finger protein 276 isoform a 115 ZAD. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) TGCTCGTACGGGACTTCCAGC 0.647 NA 35 10 2.52637e-11 3.16042e-11 0.005524 1 0 OR1A2 26189 broad.mit.edu 37 17 3101025 3101025 + Missense_Mutation SNP C C G rs141816732 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:3101025C>G uc002fvd.1 + 1 213 c.213C>G c.(211-213)ATC>ATG p.I71M NM_012352 NP_036484 Q9Y585 OR1A2_HUMAN olfactory receptor, family 1, subfamily A, 71 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I71I(1) skin(2) 2 TGGTTGACATCATCTTCTCAT 0.483 NA 34 204 0 0 0.004878 0 0 OR3A2 4995 broad.mit.edu 37 17 3181358 3181358 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:3181358T>C uc002fvg.2 - 1 911 c.872A>G c.(871-873)AAC>AGC p.N291S NM_002551 NP_002542 P47893 OR3A2_HUMAN olfactory receptor, family 3, subfamily A, 291 Helical; Name=7; (Potential). sensory perception of smell integral to plasma membrane olfactory receptor activity ovary(1) 1 CAGCATAGGGTTGATAACAGT 0.453 GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272) NA 12 48 0 0 0.001368 0 0 P2RX5 5026 broad.mit.edu 37 17 3593389 3593389 + Missense_Mutation SNP G G A rs143709684 byFrequency TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:3593389G>A uc002fwi.2 - 6 873 c.589C>T c.(589-591)CGT>TGT p.R197C P2RX5_uc002fwd.2_RNA|P2RX5_uc002fwh.1_Missense_Mutation_p.R197C|P2RX5_uc010vrx.1_Missense_Mutation_p.R137C|P2RX5_uc002fwj.2_Missense_Mutation_p.R173C|P2RX5_uc002fwk.2_Missense_Mutation_p.R197C|P2RX5_uc002fwl.2_Missense_Mutation_p.R173C NM_002561 NP_002552 Q93086 P2RX5_HUMAN purinergic receptor P2X5 isoform A 197 Extracellular (Potential). nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity 0 TTGGGGAAACGGATGTGGTTC 0.587 NA 142 138 0 0 0.00361 0 0 GSG2 83903 broad.mit.edu 37 17 3628116 3628116 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:3628116G>T uc002fwp.2 + 1 920 c.887G>T c.(886-888)GGC>GTC p.G296V ITGAE_uc002fwo.3_Intron|ITGAE_uc002fwn.3_5'Flank NM_031965 NP_114171 Q8TF76 HASP_HUMAN haspin 296 cell cycle|chromatin modification|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity 0 AGGGCCACAGGCCAGGACTCT 0.567 NA 44 25 1.22674e-20 1.83206e-20 0.00874 1 0 NLRP1 22861 broad.mit.edu 37 17 5418227 5418227 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:5418227G>T uc002gci.2 - 17 4824 c.4269C>A c.(4267-4269)CCC>CCA p.P1423P NLRP1_uc002gcg.1_Intron|NLRP1_uc002gck.2_Silent_p.P1379P|NLRP1_uc002gcj.2_Silent_p.P1393P|NLRP1_uc002gcl.2_Silent_p.P1349P|NLRP1_uc002gch.3_Silent_p.P1379P NM_033004 NP_127497 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 isoform 1 1423 CARD. defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 9 Colorectal(1115;3.48e-05) GCATCTGGCTGGGCCTCGTGT 0.572 NA 20 33 8.34094e-07 9.35694e-07 0.008871 1 0 WSCD1 23302 broad.mit.edu 37 17 5998421 5998421 + Splice_Site SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:5998421G>T uc010cli.2 + 5 1107 c.728_splice c.e5-1 p.R243_splice WSCD1_uc002gcn.2_Splice_Site_p.R243_splice|WSCD1_uc002gco.2_Splice_Site_p.R243_splice|WSCD1_uc010clj.2_Splice_Site NM_015253 NP_056068 Q658N2 WSCD1_HUMAN WSC domain containing 1 integral to membrane sulfotransferase activity 0 TTTTCCCCCAGGGCGGACCGC 0.557 NA 46 129 1.67753e-36 2.90451e-36 0.00361 1 0 FBXO39 162517 broad.mit.edu 37 17 6684114 6684114 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:6684114G>A uc010vtg.1 + 2 1047 c.927G>A c.(925-927)AGG>AGA p.R309R NM_153230 NP_694962 Q8N4B4 FBX39_HUMAN F-box protein 39 309 ovary(1)|skin(1) 2 TCCCGATCAGGAGCATCAGTC 0.527 NA 40 30 0 0 0.00623 0 0 SPEM1 374768 broad.mit.edu 37 17 7323846 7323846 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:7323846T>A uc002ggv.2 + 1 168 c.143T>A c.(142-144)CTG>CAG p.L48Q FGF11_uc010vtw.1_Intron NM_199339 NP_955371 Q8N4L4 SPEM1_HUMAN spermatid maturation 1 48 Helical; (Potential). cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|integral to membrane 0 Prostate(122;0.173) ATAGTGACCCTGGTCAGGGTG 0.597 NA 21 55 0 0 0.008871 0 0 POLR2A 5430 broad.mit.edu 37 17 7411605 7411605 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:7411605G>T uc002ghf.3 + 20 3510 c.3276G>T c.(3274-3276)GCG>GCT p.A1092A NM_000937 NP_000928 P24928 RPB1_HUMAN DNA-directed RNA polymerase II A 1092 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding pancreas(1) 1 Prostate(122;0.173) CTCTGGCTGCGCAGTCCCTTG 0.542 NA 13 10 0.00010058 0.000107352 0.001368 1 0 TP53 7157 broad.mit.edu 37 17 7574017 7574017 + Missense_Mutation SNP C C A rs121912664 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:7574017C>A uc002gim.2 - 10 1204 c.1010G>T c.(1009-1011)CGC>CTC p.R337L TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Missense_Mutation_p.R205L|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Missense_Mutation_p.R337L NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 337 Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2. R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R337C(12)|p.0?(7)|p.R337L(5)|p.R337H(2)|p.?(1)|p.I332fs*5(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CATCTCGAAGCGCTCACGCCC 0.453 Pancreas(47;798 1329 9957 10801) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 32 8 6.97489e-18 9.91141e-18 0.004878 1 0 DNAH2 146754 broad.mit.edu 37 17 7727220 7727220 + Missense_Mutation SNP G G A rs61739646 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:7727220G>A uc002giu.1 + 74 11412 c.11398G>A c.(11398-11400)GTG>ATG p.V3800M DNAH2_uc010cnm.1_Missense_Mutation_p.V738M NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 3800 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) CCAGGACCGCGTGGCCTTCTG 0.582 NA 98 10 0 0 0.00361 0 0 GUCY2D 3000 broad.mit.edu 37 17 7910409 7910409 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:7910409C>T uc002gjt.2 + 5 1484 c.1410C>T c.(1408-1410)TTC>TTT p.F470F NM_000180 NP_000171 Q02846 GUC2D_HUMAN guanylate cyclase 2D, membrane (retina-specific) 470 Helical; (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity skin(1) 1 Prostate(122;0.157) TTCTTGGCTTCCTCCTGGTGG 0.572 NA 28 62 0 0 0.008361 0 0 ARHGEF15 22899 broad.mit.edu 37 17 8222142 8222142 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:8222142G>T uc002glc.2 + 12 2068 c.1947G>T c.(1945-1947)GGG>GGT p.G649G ARHGEF15_uc002gld.2_Silent_p.G649G|ARHGEF15_uc010vuw.1_Silent_p.G538G NM_173728 NP_776089 O94989 ARHGF_HUMAN Rho guanine exchange factor 15 649 negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 GCCGGAGGGGGGGCGTGCTCT 0.647 NA 82 250 2.1672e-28 3.56105e-28 0.00361 1 0 MYH10 4628 broad.mit.edu 37 17 8408032 8408032 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:8408032C>T uc002gll.2 - 26 3582 c.3486G>A c.(3484-3486)ACG>ACA p.T1162T MYH10_uc002glm.2_Silent_p.T1193T|MYH10_uc010cnx.2_Silent_p.T1171T NM_005964 NP_005955 P35580 MYH10_HUMAN myosin, heavy polypeptide 10, non-muscle 1162 Potential. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity ovary(2) 2 GCTGGGCTGCCGTGGTGTCCA 0.607 NA 9 145 0 0 0.008291 0 0 MYH13 8735 broad.mit.edu 37 17 10265475 10265475 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:10265475G>T uc002gmk.1 - 5 555 c.465C>A c.(463-465)ATC>ATA p.I155I NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 155 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 AGATGGAGAAGATGTGGGGCG 0.488 NA 101 78 2.91419e-48 5.28709e-48 0.00361 1 0 MYH8 4626 broad.mit.edu 37 17 10303742 10303742 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:10303742G>T uc002gmm.2 - 27 3795 c.3700C>A c.(3700-3702)CTC>ATC p.L1234I uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1234 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 TTACTGCTGAGGTCATCAGTC 0.463 NA Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 51 140 5.39261e-20 7.93707e-20 0.00361 1 0 MYH8 4626 broad.mit.edu 37 17 10314148 10314148 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:10314148C>A uc002gmm.2 - 15 1628 c.1533G>T c.(1531-1533)TGG>TGT p.W511C uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 511 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 CAATGAACGTCCACTCGATGC 0.488 NA Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 40 125 3.78316e-11 4.7204e-11 0.00623 1 0 MYH8 4626 broad.mit.edu 37 17 10318833 10318833 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:10318833C>A uc002gmm.2 - 7 699 c.604G>T c.(604-606)GCA>TCA p.A202S uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 202 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 CCAGTAACTGCAATTGTTGCA 0.458 NA Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 53 59 7.41606e-26 1.18731e-25 0.00361 1 0 MYH1 4619 broad.mit.edu 37 17 10398511 10398511 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:10398511C>T uc002gmo.2 - 36 5387 c.5293G>A c.(5293-5295)GAT>AAT p.D1765N uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1765 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 TCACTCACATCAGTGATGGCC 0.458 NA 48 155 0 0 0.00361 0 0 MYH1 4619 broad.mit.edu 37 17 10402067 10402067 + Nonsense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:10402067C>A uc002gmo.2 - 30 4151 c.4057G>T c.(4057-4059)GAG>TAG p.E1353* uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1353 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 TCCTGCTCCTCCTCATACTGT 0.552 NA 86 53 7.7321e-48 1.39887e-47 0.00361 1 0 MYH1 4619 broad.mit.edu 37 17 10406204 10406204 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:10406204C>A uc002gmo.2 - 24 3056 c.2962G>T c.(2962-2964)GGT>TGT p.G988C uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 988 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 TCATCCAGACCCGCCATCTCT 0.507 NA 42 183 2.35958e-20 3.49421e-20 0.009718 1 0 MYH1 4619 broad.mit.edu 37 17 10415180 10415180 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:10415180G>T uc002gmo.2 - 14 1486 c.1392C>A c.(1390-1392)GAC>GAA p.D464E uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 464 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 AGCCAGCAATGTCCAAGACCC 0.463 NA 109 89 4.58075e-42 8.15761e-42 0.00361 1 0 MYH2 4620 broad.mit.edu 37 17 10428226 10428226 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:10428226G>T uc010coi.2 - 34 4947 c.4819C>A c.(4819-4821)CTG>ATG p.L1607M uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.L1607M|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1607 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 TCAGCATCCAGCGTGCTCTGC 0.458 NA 82 60 1.52223e-32 2.58472e-32 0.00361 1 0 MYH2 4620 broad.mit.edu 37 17 10432523 10432523 + Nonsense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:10432523G>A uc010coi.2 - 26 3438 c.3310C>T c.(3310-3312)CAG>TAG p.Q1104* uc002gml.1_Intron|MYH2_uc002gmp.3_Nonsense_Mutation_p.Q1104*|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1104 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 CCAAGTGCCTGTTCATCTTCA 0.373 NA 12 46 0 0 0.001368 0 0 DNAH9 1770 broad.mit.edu 37 17 11572494 11572494 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:11572494G>T uc002gne.2 + 16 2913 c.2845G>T c.(2845-2847)GTT>TTT p.V949F DNAH9_uc010coo.2_Missense_Mutation_p.V243F NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 949 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CTGTGACATTGTTGAGGGTCT 0.498 NA 83 25 9.5978e-63 1.78311e-62 0.00361 1 0 NCOR1 9611 broad.mit.edu 37 17 15971414 15971414 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:15971414G>C uc002gpo.2 - 32 4775 c.4535C>G c.(4534-4536)TCT>TGT p.S1512C NCOR1_uc002gpn.2_Missense_Mutation_p.S1528C|NCOR1_uc002gpm.2_Missense_Mutation_p.S33C|NCOR1_uc010vwb.1_Missense_Mutation_p.S96C|NCOR1_uc010coy.2_Missense_Mutation_p.S420C|NCOR1_uc010vwc.1_Missense_Mutation_p.S323C NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 1512 Interaction with ETO.|Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) ATGATTGGTAGACTTGTTAGA 0.438 NA 10 10 0 0 0.006214 0 0 ZNF287 57336 broad.mit.edu 37 17 16456737 16456737 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:16456737C>A uc002gqi.2 - 6 1172 c.719G>T c.(718-720)TGG>TTG p.W240L NM_020653 NP_065704 Q9HBT7 ZN287_HUMAN zinc finger protein 287 233 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) TTTAGTTTCCCATTCTGaaat 0.318 NA 30 7 3.65163e-15 4.918e-15 0.00632 1 0 FLJ40504 284085 broad.mit.edu 37 17 26603976 26603976 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:26603976T>C uc002has.3 - 3 595 c.499A>G c.(499-501)ACC>GCC p.T167A NM_173624 NP_775895 SubName: Full=Putative uncharacterized protein FLJ40504; SubName: Full=cDNA FLJ40504 fis, clone TESTI2045509, highly similar to KERATIN, TYPE I CYTOSKELETAL 18; 0 all_lung(13;0.000238)|Lung NSC(42;0.000789) UCEC - Uterine corpus endometrioid carcinoma (53;0.155) TTCTCGATGGTCTTGAAGTCA 0.522 NA 57 35 0 0 0.00361 0 0 PIGS 94005 broad.mit.edu 37 17 26883203 26883204 + Missense_Mutation DNP CC CC AG TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:26883203_26883204CC>AG uc002hbo.2 - 10 1534_1535 c.1161_1162GG>CT c.(1159-1164)GAGGTG>GACTTG p.387_388EV>DL PIGS_uc002hbn.2_Missense_Mutation_p.379_380EV>DL|PIGS_uc010wap.1_Missense_Mutation_p.326_327EV>DL NM_033198 NP_149975 Q96S52 PIGS_HUMAN phosphatidylinositol glycan anchor biosynthesis, 387_388 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(2)|urinary_tract(1)|kidney(1) 4 Lung NSC(42;0.00431) GCCAGGAACACCTCCATCACTC 0.5 NA 48 47 0 0 0.004672 0 0 TAOK1 57551 broad.mit.edu 37 17 27849415 27849415 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:27849415G>C uc002hdz.1 + 17 2220 c.2026G>C c.(2026-2028)GAG>CAG p.E676Q TAOK1_uc010wbe.1_Intron|TAOK1_uc010wbf.1_Missense_Mutation_p.E676Q NM_020791 NP_065842 Q7L7X3 TAOK1_HUMAN TAO kinase 1 676 mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Colorectal(6;0.198) GATGCGCTGTGAGTTGATCAG 0.453 NA 21 54 0 0 0.010504 0 0 SLC6A4 6532 broad.mit.edu 37 17 28530283 28530283 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:28530283G>A uc002hey.3 - 14 2269 c.1725C>T c.(1723-1725)ATC>ATT p.I575I SLC6A4_uc010csg.2_RNA NM_001045 NP_001036 P31645 SC6A4_HUMAN solute carrier family 6 member 4 575 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity skin(3)|ovary(1) 4 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) AACCCAAGATGATACTCCAGT 0.388 NA 69 44 0 0 0.00361 0 0 PSMD11 5717 broad.mit.edu 37 17 30774031 30774031 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:30774031G>A uc010cta.1 + 2 200 c.160G>A c.(160-162)GGA>AGA p.G54R PSMD11_uc010wbz.1_Missense_Mutation_p.G54R|PSMD11_uc002hhm.2_Missense_Mutation_p.G54R NM_002815 NP_002806 O00231 PSD11_HUMAN proteasome 26S non-ATPase subunit 11 54 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding ovary(1) 1 Breast(31;0.159)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.109) CCTGGAACTGGGATCTCTCCT 0.453 Ovarian(130;1038 1716 9294 11987 19279) NA 23 53 0 0 0.004656 0 0 CCL2 6347 broad.mit.edu 37 17 32583819 32583819 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:32583819C>A uc002hhy.2 + 3 346 c.273C>A c.(271-273)GAC>GAA p.D91E NM_002982 NP_002973 P13500 CCL2_HUMAN small inducible cytokine A2 precursor 91 D->L: 90% reduction in activity.|Missing: 83% reduction in activity. angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication extracellular space CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity pancreas(1) 1 Breast(3;0.00224) Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153) UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103) Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641) ACCACCTGGACAAGCAAACCC 0.507 NA 14 46 2.31682e-05 2.52152e-05 0.003163 1 0 TMEM132E 124842 broad.mit.edu 37 17 32959844 32959844 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:32959844C>A uc002hif.2 + 7 1662 c.1334C>A c.(1333-1335)CCC>CAC p.P445H NM_207313 NP_997196 Q6IEE7 T132E_HUMAN transmembrane protein 132E precursor 445 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(366;0.231) GTCTGGGTCCCCAAGCTGCCC 0.597 NA 89 75 1.82171e-49 3.31751e-49 0.00361 1 0 RFFL 117584 broad.mit.edu 37 17 33348594 33348594 + Silent SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:33348594C>G uc002hin.1 - 3 560 c.387G>C c.(385-387)CTG>CTC p.L129L RFFL_uc002hiq.2_Intron|RFFL_uc002him.1_Silent_p.L129L|RFFL_uc010cti.1_Silent_p.L135L|RFFL_uc002hip.1_Silent_p.L129L|RFFL_uc002hio.1_Silent_p.L129L NM_001017368 NP_001017368 Q8WZ73 RFFL_HUMAN rififylin 129 apoptosis membrane ligase activity|zinc ion binding 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) CCAAGAGCACCAGCTCTTCTT 0.552 NA 17 30 0 0 0.006122 0 0 AMAC1 146861 broad.mit.edu 37 17 33520510 33520510 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:33520510C>A uc002hjd.2 - 1 903 c.817G>T c.(817-819)GCG>TCG p.A273S NM_152462 NP_689675 Q8N808 AMAC1_HUMAN acyl-malonyl condensing enzyme 1 273 DUF6 2. integral to membrane 0 BRCA - Breast invasive adenocarcinoma(366;0.0917) TTGGTGACCGCATAGCCCACA 0.592 NA 126 85 5.13333e-58 9.48219e-58 0.00361 1 0 SLFN13 146857 broad.mit.edu 37 17 33771790 33771790 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:33771790C>A uc002hjk.1 - 1 1240 c.910G>T c.(910-912)GGG>TGG p.G304W SLFN13_uc010wch.1_Missense_Mutation_p.G304W|SLFN13_uc002hjl.2_Missense_Mutation_p.G304W|SLFN13_uc010ctt.2_Intron|SLFN13_uc002hjm.2_Intron NM_144682 NP_653283 Q68D06 SLN13_HUMAN schlafen family member 13 304 intracellular ATP binding ovary(1)|breast(1) 2 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) AACTCTTTCCCACAAAACACT 0.418 NA 53 54 1.86277e-20 2.77336e-20 0.00361 1 0 PEX12 5193 broad.mit.edu 37 17 33903138 33903138 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:33903138G>C uc002hjp.2 - 3 1359 c.743C>G c.(742-744)TCT>TGT p.S248C NM_000286 NP_000277 O00623 PEX12_HUMAN peroxisomal biogenesis factor 12 248 Helical; (Potential). protein import into peroxisome matrix integral to peroxisomal membrane protein C-terminus binding|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AAGGCCAGTAGACAGGGATAA 0.453 NA 36 31 0 0 0.004878 0 0 GAS2L2 246176 broad.mit.edu 37 17 34077228 34077228 + Silent SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:34077228C>G uc002hjv.1 - 2 523 c.495G>C c.(493-495)GCG>GCC p.A165A NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 165 cell cycle arrest cytoplasm|cytoskeleton ovary(1)|skin(1) 2 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CGAGTGTGGGCGCCGCAACAC 0.706 NA 73 200 0 0 0.00361 0 0 CCL23 6368 broad.mit.edu 37 17 34344875 34344875 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:34344875C>A uc002hkt.1 - 1 131 c.60G>T c.(58-60)CAG>CAT p.Q20H CCL23_uc002hks.1_Missense_Mutation_p.Q20H NM_145898 NP_665905 P55773 CCL23_HUMAN small inducible cytokine A23 isoform CKbeta8 20 MLVTALGSQARVTKDAETEFMMSKLPLENPVLL -> HAFL LPLVPGPGHKRCRDRVHECQSFHWKIQYFW (in Ref. 1). cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation extracellular space chemokine activity|heparin binding 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) Treprostinil(DB00374) TGACCCGGGCCTGGGATCCAA 0.587 NA 16 22 1.02788e-11 1.29422e-11 0.00499 1 0 STAC2 342667 broad.mit.edu 37 17 37371051 37371051 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:37371051C>A uc002hrs.2 - 7 1055 c.836G>T c.(835-837)GGA>GTA p.G279V STAC2_uc010cvt.2_Missense_Mutation_p.G137V NM_198993 NP_945344 Q6ZMT1 STAC2_HUMAN SH3 and cysteine rich domain 2 279 intracellular signal transduction metal ion binding pancreas(1) 1 CACCTGCTGTCCAGGACTCTT 0.582 NA 31 8 1.80694e-10 2.21459e-10 0.009535 1 0 MED24 9862 broad.mit.edu 37 17 38209742 38209742 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:38209742C>A uc002htt.2 - 2 423 c.110G>T c.(109-111)TGG>TTG p.W37L MED24_uc010wet.1_RNA|MED24_uc002hts.2_Missense_Mutation_p.W62L|MED24_uc002htu.2_Missense_Mutation_p.W37L|MED24_uc010cwn.2_Missense_Mutation_p.W37L|MED24_uc010weu.1_5'UTR|MED24_uc010wev.1_Intron|MED24_uc010wew.1_Intron|MED24_uc010wex.1_5'Flank|MED24_uc010wfa.1_5'Flank|MED24_uc010wfb.1_Missense_Mutation_p.W62L|MED24_uc010wfc.1_5'Flank NM_014815 NP_055630 O75448 MED24_HUMAN mediator complex subunit 24 isoform 1 37 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1) 1 Colorectal(19;0.000442) GAGAATATCCCAGGTGGCTCC 0.463 NA 209 38 7.15034e-89 1.34915e-88 0.00361 1 0 KRT33A 3883 broad.mit.edu 37 17 39506848 39506848 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:39506848C>G uc002hwk.1 - 1 209 c.172G>C c.(172-174)GAG>CAG p.E58Q NM_004138 NP_004129 O76009 KT33A_HUMAN keratin 33A 58 Coil 1A.|Rod. intermediate filament protein binding|structural molecule activity 0 Breast(137;0.000496) TGCATGGTCTCCTTCTCACTG 0.632 NA 110 24 0 0 0.00361 0 0 KRT34 3885 broad.mit.edu 37 17 39538006 39538006 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:39538006G>C uc002hwm.2 - 2 528 c.516C>G c.(514-516)AAC>AAG p.N172K NM_021013 NP_066293 O76011 KRT34_HUMAN keratin 34 172 Rod.|Coil 1B. epidermis development intermediate filament protein binding|structural molecule activity central_nervous_system(1) 1 Breast(137;0.000496) CATTGTCAATGTTCACCACCA 0.448 NA 62 12 0 0 0.00361 0 0 HAP1 9001 broad.mit.edu 37 17 39883375 39883375 + Nonsense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:39883375C>A uc002hxm.1 - 10 1465 c.1453G>T c.(1453-1455)GAG>TAG p.E485* JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Nonsense_Mutation_p.E433*|HAP1_uc002hxo.1_Nonsense_Mutation_p.E416*|HAP1_uc002hxp.1_Nonsense_Mutation_p.E408* NM_177977 NP_817084 P54257 HAP1_HUMAN huntingtin-associated protein 1 isoform 2 485 Glu-rich. brain development|protein localization|synaptic transmission actin cytoskeleton protein binding ovary(2) 2 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) GCCAGCGTCTCCTGGAAACCA 0.572 NA 15 4 6.81908e-15 9.12671e-15 0.00245 1 0 SLC4A1 6521 broad.mit.edu 37 17 42332001 42332001 + Silent SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:42332001C>G uc002igf.3 - 16 2069 c.1920G>C c.(1918-1920)GTG>GTC p.V640V NM_000342 NP_000333 P02730 B3AT_HUMAN solute carrier family 4, anion exchanger, member 640 Extracellular (Potential).|Membrane (anion exchange). bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) AGGAGTTGGACACCTTGAAGC 0.617 NA 22 2 0 0 0.010504 0 0 SLC4A1 6521 broad.mit.edu 37 17 42333059 42333059 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:42333059G>T uc002igf.3 - 14 1931 c.1782C>A c.(1780-1782)AGC>AGA p.S594R NM_000342 NP_000333 P02730 B3AT_HUMAN solute carrier family 4, anion exchanger, member 594 Involved in anion transport.|Cytoplasmic (Potential).|Membrane (anion exchange). bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) GGAAATAGGAGCTGTTCTTGA 0.592 NA 50 9 2.43468e-25 3.87545e-25 0.00361 1 0 MAPT 4137 broad.mit.edu 37 17 44060875 44060875 + Silent SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:44060875C>G uc002ijr.3 + 6 1025 c.705C>G c.(703-705)TCC>TCG p.S235S MAPT_uc010dau.2_Silent_p.S235S|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron NM_016835 NP_058519 P10636 TAU_HUMAN microtubule-associated protein tau isoform 1 235 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton pancreas(1) 1 Melanoma(429;0.216) CCCCTCCCTCCAAGGCCTCCC 0.687 NA 19 15 0 0 0.001882 0 0 HOXB4 3214 broad.mit.edu 37 17 46654196 46654196 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:46654196A>T uc002inp.2 - 2 706 c.644T>A c.(643-645)ATG>AAG p.M215K HOXB3_uc010wlm.1_Intron|HOXB3_uc010dbf.2_Intron|HOXB3_uc010dbg.2_Intron|HOXB3_uc002ino.2_5'Flank|HOXB3_uc010wlk.1_5'Flank|HOXB3_uc010wll.1_Intron NM_024015 NP_076920 P17483 HXB4_HUMAN homeobox B4 215 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 TTTCCACTTCATGCGCCGGTT 0.652 NA 111 25 0 0 0.00361 0 0 TTLL6 284076 broad.mit.edu 37 17 46868791 46868791 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:46868791G>C uc010wlo.1 - 10 1208 c.1173C>G c.(1171-1173)ATC>ATG p.I391M TTLL6_uc002iob.2_Missense_Mutation_p.I84M|TTLL6_uc010dbi.2_RNA|TTLL6_uc002ioc.2_Missense_Mutation_p.I144M|TTLL6_uc002iod.2_Missense_Mutation_p.I238M NM_001130918 NP_001124390 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 343 TTL. cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity 0 CAAAGCCCAGGATCTCAAAGC 0.542 NA OREG0024526 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 4 0 0 0.005443 0 0 ABI3 51225 broad.mit.edu 37 17 47295217 47295217 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:47295217G>T uc002iop.1 + 3 900 c.402G>T c.(400-402)ACG>ACT p.T134T ABI3_uc002ioq.1_Silent_p.T128T NM_016428 NP_057512 Q9P2A4 ABI3_HUMAN NESH protein isoform 1 134 cellular component movement|regulation of cell migration cytoplasm|lamellipodium protein binding 0 Epithelial(5;6.37e-06)|all cancers(6;6.36e-05) CCCCTCTCACGCCCTACTGCA 0.632 NA HNSCC(55;0.14) 67 13 4.15811e-52 7.61532e-52 0.00361 1 0 ABI3 51225 broad.mit.edu 37 17 47297633 47297633 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:47297633C>A uc002iop.1 + 6 1245 c.747C>A c.(745-747)GCC>GCA p.A249A ABI3_uc002ioq.1_Silent_p.A243A NM_016428 NP_057512 Q9P2A4 ABI3_HUMAN NESH protein isoform 1 249 Pro-rich. cellular component movement|regulation of cell migration cytoplasm|lamellipodium protein binding 0 Epithelial(5;6.37e-06)|all cancers(6;6.36e-05) CACCAGCAGCCGTCGAGGTGT 0.692 NA HNSCC(55;0.14) 17 3 9.16793e-09 1.08578e-08 0.00499 1 0 SGCA 6442 broad.mit.edu 37 17 48245326 48245326 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:48245326G>A uc002iqi.2 + 4 367 c.331G>A c.(331-333)GAC>AAC p.D111N SGCA_uc010wmh.1_Missense_Mutation_p.D9N|SGCA_uc002iqj.2_Missense_Mutation_p.D111N|SGCA_uc010wmi.1_RNA NM_000023 NP_000014 Q16586 SGCA_HUMAN sarcoglycan, alpha isoform 1 precursor 111 Extracellular (Potential). muscle contraction|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma calcium ion binding ovary(2) 2 CTACAATCGGGACAGCTTTGA 0.587 NA 69 23 0 0 0.00361 0 0 CACNA1G 8913 broad.mit.edu 37 17 48696314 48696314 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:48696314T>C uc002irk.1 + 33 6098 c.5726T>C c.(5725-5727)CTG>CCG p.L1909P CACNA1G_uc002irj.1_Missense_Mutation_p.L1875P|CACNA1G_uc002irl.1_Missense_Mutation_p.L1886P|CACNA1G_uc002irm.1_Missense_Mutation_p.L1875P|CACNA1G_uc002irn.1_Missense_Mutation_p.L1868P|CACNA1G_uc002iro.1_Missense_Mutation_p.L1875P|CACNA1G_uc002irp.1_Missense_Mutation_p.L1909P|CACNA1G_uc002irq.1_Missense_Mutation_p.L1886P|CACNA1G_uc002irr.1_Missense_Mutation_p.L1909P|CACNA1G_uc002irs.1_Missense_Mutation_p.L1898P|CACNA1G_uc002irt.1_Missense_Mutation_p.L1891P|CACNA1G_uc002irv.1_Missense_Mutation_p.L1898P|CACNA1G_uc002irw.1_Missense_Mutation_p.L1886P|CACNA1G_uc002iru.1_Missense_Mutation_p.L1875P|CACNA1G_uc002irx.1_Missense_Mutation_p.L1822P|CACNA1G_uc002iry.1_Missense_Mutation_p.L1811P|CACNA1G_uc002irz.1_Missense_Mutation_p.L1815P|CACNA1G_uc002isa.1_Missense_Mutation_p.L1788P|CACNA1G_uc002isb.1_Missense_Mutation_p.L1829P|CACNA1G_uc002isc.1_Missense_Mutation_p.L1811P|CACNA1G_uc002isd.1_Missense_Mutation_p.L1797P|CACNA1G_uc002ise.1_Missense_Mutation_p.L1777P|CACNA1G_uc002isf.1_Missense_Mutation_p.L1804P|CACNA1G_uc002isg.1_Missense_Mutation_p.L1770P|CACNA1G_uc002ish.1_Missense_Mutation_p.L1777P|CACNA1G_uc002isi.1_Missense_Mutation_p.L1765P NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 1909 Cytoplasmic (Potential). axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CCTGGGGCTCTGCACCCAGCG 0.711 NA 26 7 0 0 0.007291 0 0 CA10 56934 broad.mit.edu 37 17 49825100 49825100 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:49825100C>G uc002itw.3 - 4 1344 c.358G>C c.(358-360)GGG>CGG p.G120R CA10_uc002itu.3_Missense_Mutation_p.G49R|CA10_uc002itv.3_Missense_Mutation_p.G126R|CA10_uc002itx.3_Missense_Mutation_p.G120R|CA10_uc002ity.3_Missense_Mutation_p.G120R|CA10_uc002itz.2_Missense_Mutation_p.G120R NM_020178 NP_064563 Q9NS85 CAH10_HUMAN carbonic anhydrase X 120 brain development ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) GTCATGGGCCCTCCAGATATG 0.557 NA 74 13 0 0 0.00361 0 0 RNF43 54894 broad.mit.edu 37 17 56435163 56435163 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:56435163C>A uc002iwf.2 - 8 3930 c.1974G>T c.(1972-1974)GGG>GGT p.G658G RNF43_uc010wnv.1_Silent_p.G617G|RNF43_uc002iwh.3_Silent_p.G658G|RNF43_uc002iwg.3_Silent_p.G658G|RNF43_uc010dcw.2_Silent_p.G531G NM_017763 NP_060233 Q68DV7 RNF43_HUMAN ring finger protein 43 precursor 658 Pro-rich.|Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding ovary(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) CGGAGGGACCCCCCCGCCTTT 0.602 NA 90 28 1.80868e-48 3.28449e-48 0.00361 1 0 RNF43 54894 broad.mit.edu 37 17 56438273 56438273 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:56438273G>A uc002iwf.2 - 6 2676 c.720C>T c.(718-720)ATC>ATT p.I240I RNF43_uc010wnv.1_Silent_p.I199I|RNF43_uc002iwh.3_Silent_p.I240I|RNF43_uc002iwg.3_Silent_p.I240I|RNF43_uc010dcw.2_Silent_p.I113I NM_017763 NP_060233 Q68DV7 RNF43_HUMAN ring finger protein 43 precursor 240 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding ovary(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCAGCTGGCTGATGGCCCAGG 0.652 NA 19 4 0 0 0.010504 0 0 MED13 9969 broad.mit.edu 37 17 60107008 60107009 + Missense_Mutation DNP TC TC GA TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 TC TC - - TC TC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:60107008_60107009TC>GA uc002izo.2 - 8 1253_1254 c.1176_1177GA>TC c.(1174-1179)AGGAAG>AGTCAG p.392_393RK>SQ MED13_uc002izp.2_Missense_Mutation_p.8_9RK>SQ NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 392_393 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(1)|ovary(1) 2 GCAGAATACTTCCTCCTAAGAT 0.337 NA 32 6 0 0 0.004672 0 0 SMARCD2 6603 broad.mit.edu 37 17 61911024 61911024 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:61911024C>T uc010deb.1 - 10 1557 c.1240G>A c.(1240-1242)GAC>AAC p.D414N SMARCD2_uc010wpt.1_Missense_Mutation_p.D366N|SMARCD2_uc010dea.1_Missense_Mutation_p.D339N|SMARCD2_uc010dec.1_Missense_Mutation_p.D393N NM_001098426 NP_001091896 Q92925 SMRD2_HUMAN SWI/SNF-related matrix-associated 414 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent SWI/SNF complex protein binding|transcription coactivator activity 0 TTCAGTGGGTCGTCCACCTCC 0.562 NA 13 51 0 0 0.00245 0 0 GH2 2689 broad.mit.edu 37 17 61957865 61957865 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:61957865C>A uc002jco.1 - 5 532 c.470G>T c.(469-471)GGC>GTC p.G157V GH2_uc002jcj.2_Intron|CSH2_uc002jck.2_Intron|GH2_uc002jcl.1_Missense_Mutation_p.W241C|GH2_uc002jcm.1_Missense_Mutation_p.A156S|GH2_uc002jcn.1_Missense_Mutation_p.G142V NM_002059 NP_002050 P01242 SOM2_HUMAN growth hormone 2 isoform 1 157 extracellular region hormone activity upper_aerodigestive_tract(2)|pancreas(1) 3 CCGGGGGCTGCCATCTTCCAG 0.542 NA 69 11 9.68594e-22 1.47153e-21 0.00361 1 0 ABCA6 23460 broad.mit.edu 37 17 67079063 67079063 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:67079063C>G uc002jhw.1 - 36 4742 c.4567G>C c.(4567-4569)GTC>CTC p.V1523L NM_080284 NP_525023 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A, member 6 1523 transport integral to membrane ATP binding|ATPase activity upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1) 7 Breast(10;5.65e-12) TCAGTGTGGACCAAAGTCACT 0.453 NA 140 47 0 0 0.00361 0 0 ABCA10 10349 broad.mit.edu 37 17 67186585 67186585 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:67186585T>A uc010dfa.1 - 19 2924 c.2045A>T c.(2044-2046)CAG>CTG p.Q682L ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Missense_Mutation_p.Q283L NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 682 transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) CCTTATGCCCTGGTCAGAACA 0.313 NA 27 8 0 0 0.009535 0 0 TRIM47 91107 broad.mit.edu 37 17 73870763 73870763 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:73870763C>A uc002jpw.2 - 6 1745 c.1718G>T c.(1717-1719)CGG>CTG p.R573L TRIM47_uc002jpv.2_Missense_Mutation_p.R335L NM_033452 NP_258411 Q96LD4 TRI47_HUMAN tripartite motif-containing 47 573 B30.2/SPRY. cytoplasm|nucleus zinc ion binding ovary(2)|prostate(1)|lung(1)|breast(1) 5 Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) CTTCAGCCTCCGCAGGAGGCT 0.677 NA 40 11 2.87052e-16 3.9485e-16 0.005524 1 0 MGAT5B 146664 broad.mit.edu 37 17 74902137 74902137 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:74902137G>T uc002jti.2 + 7 1029 c.926G>T c.(925-927)GGG>GTG p.G309V MGAT5B_uc002jth.2_Missense_Mutation_p.G298V NM_198955 NP_945193 Q3V5L5 MGT5B_HUMAN N-acetylglucosaminyltranferase VB isoform 2 298 Lumenal (Potential). Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(2)|skin(1) 3 GAGGAGTCCGGGGACGTGTTC 0.667 NA 51 20 2.30037e-20 3.41698e-20 0.00361 1 0 AFMID 125061 broad.mit.edu 37 17 76201752 76201752 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:76201752G>A uc002jva.3 + 9 728 c.713G>A c.(712-714)CGT>CAT p.R238H AFMID_uc002jvb.3_Intron|AFMID_uc002juz.3_Missense_Mutation_p.R238H NM_001010982 NP_001010982 Q63HM1 AFMID_HUMAN arylformamidase isoform 1 238 cytosol|nucleus arylformamidase activity large_intestine(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134) CCCACCTGCCGTGTGCTGGTG 0.647 NA 32 6 0 0 0.002445 0 0 ENPP7 339221 broad.mit.edu 37 17 77711769 77711769 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:77711769C>A uc002jxa.2 + 5 1321 c.1301C>A c.(1300-1302)GCT>GAT p.A434D NM_178543 NP_848638 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 434 Helical; (Potential). negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity central_nervous_system(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GGAAGATCTGCTCTCCCGCCC 0.597 NA 55 17 2.17126e-26 3.49352e-26 0.00361 1 0 TSPAN10 83882 broad.mit.edu 37 17 79612613 79612613 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:79612613G>A uc010die.2 + 2 722 c.632G>A c.(631-633)AGG>AAG p.R211K TSPAN10_uc002kaw.1_Missense_Mutation_p.R211K|TSPAN10_uc010did.1_RNA NM_031945 NP_114151 Q9H1Z9 TSN10_HUMAN tetraspanin 10 211 integral to membrane ovary(1) 1 all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) CTCGGGCTGAGGTGCTGCGGA 0.632 NA 15 4 0 0 0.00245 0 0 ZFP161 7541 broad.mit.edu 37 18 5291177 5291177 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr18:5291177G>A uc002kmq.2 - 4 1191 c.1030C>T c.(1030-1032)CGT>TGT p.R344C ZFP161_uc002kmr.2_Missense_Mutation_p.R344C|ZFP161_uc010dkp.2_Missense_Mutation_p.R344C NM_003409 NP_003400 O43829 ZF161_HUMAN zinc finger protein 161 homolog 344 C2H2-type 3. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TCTGGGGCACGGATAAATGAT 0.448 NA 107 14 0 0 0.00361 0 0 PTPRM 5797 broad.mit.edu 37 18 8370953 8370953 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr18:8370953A>G uc002knn.3 + 22 3584 c.3081A>G c.(3079-3081)ATA>ATG p.I1027M PTPRM_uc010dkv.2_Missense_Mutation_p.I1040M|PTPRM_uc010wzl.1_Missense_Mutation_p.I814M NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 1027 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity lung(3)|ovary(2)|central_nervous_system(1) 6 Colorectal(10;0.234) TTACCCTAATAGAAACAGAAC 0.338 NA 23 41 0 0 0.002299 0 0 KIAA0802 23255 broad.mit.edu 37 18 8784148 8784148 + Missense_Mutation SNP C C A rs141911404 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr18:8784148C>A uc002knr.2 + 6 1180 c.1038C>A c.(1036-1038)AGC>AGA p.S346R KIAA0802_uc002knq.2_Missense_Mutation_p.S346R|KIAA0802_uc010dkw.1_Missense_Mutation_p.S184R NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN hypothetical protein LOC23255 697 Potential. 0 TGCAGATCAGCGAGCTCAGCG 0.692 NA 32 49 2.08457e-15 2.82124e-15 0.002096 1 0 NDUFV2 4729 broad.mit.edu 37 18 9122556 9122556 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr18:9122556G>C uc002knu.2 + 5 413 c.346G>C c.(346-348)GCA>CCA p.A116P NM_021074 NP_066552 P19404 NDUV2_HUMAN NADH dehydrogenase ubiquinone flavoprotein 2 116 cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport mitochondrial respiratory chain complex I 2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity ovary(1) 1 NADH(DB00157) ATATGAAGTAGCAACTTTTTA 0.348 NA 63 27 0 0 0.00361 0 0 FAM38B 63895 broad.mit.edu 37 18 10671667 10671667 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr18:10671667G>T uc002kor.3 - 14 2127 c.1987C>A c.(1987-1989)CGA>AGA p.R663R FAM38B_uc002koq.2_Silent_p.R498R NM_022068 NP_071351 Q9H5I5 PIEZ2_HUMAN family with sequence similarity 38, member B 2706 integral to membrane ion channel activity ovary(1) 1 TTCAAAATTCGATCCACATTT 0.378 NA 32 6 9.78306e-22 1.48512e-21 0.009535 1 0 GNAL 2774 broad.mit.edu 37 18 11752922 11752922 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr18:11752922C>A uc010dkz.2 + 3 462 c.216C>A c.(214-216)CCC>CCA p.P72P GNAL_uc002kqc.2_Silent_p.P149P|GNAL_uc002kqd.2_Silent_p.P72P NM_001142339 NP_001135811 P38405 GNAL_HUMAN guanine nucleotide binding protein (G protein), 72 activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission heterotrimeric G-protein complex adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity ovary(1) 1 GGTTTAATCCCGAGTAAGAAT 0.428 NA 33 3 3.67414e-24 5.75834e-24 0.002445 1 0 MC5R 4161 broad.mit.edu 37 18 13826127 13826127 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr18:13826127G>T uc010xaf.1 + 1 363 c.363G>T c.(361-363)ATG>ATT p.M121I NM_005913 NP_005904 P33032 MC5R_HUMAN melanocortin 5 receptor 121 Helical; Name=3; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding ovary(3)|lung(2)|breast(1) 6 TTGACTCCATGATCTGCATTT 0.517 NA 91 13 2.36867e-37 4.11221e-37 0.00361 1 0 MC2R 4158 broad.mit.edu 37 18 13885081 13885081 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr18:13885081C>A uc002ksp.1 - 2 614 c.437G>T c.(436-438)CGC>CTC p.R146L NM_000529 NP_000520 Q01718 ACTHR_HUMAN melanocortin 2 receptor 146 Cytoplasmic (By similarity). R -> H (in GCCD1). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding ovary(4)|skin(1) 5 Corticotropin(DB01285)|Cosyntropin(DB01284) CACCACAGTGCGGCGCATGGT 0.577 Colon(141;1584 1782 35999 48227 48692) NA 46 9 3.54909e-21 5.34991e-21 0.002852 1 0 POTEC 388468 broad.mit.edu 37 18 14542843 14542844 + Missense_Mutation DNP CC CC AA TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr18:14542843_14542844CC>AA uc010dln.2 - 1 756_757 c.302_303GG>TT c.(301-303)TGG>TTT p.W101F POTEC_uc010xaj.1_RNA NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN ANKRD26-like family B, member 2 101 skin(3) 3 AGTGACAGCACCACTTGCCCAT 0.619 NA 122 86 0 0 0.004672 0 0 LAMA3 3909 broad.mit.edu 37 18 21338378 21338378 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr18:21338378G>A uc002kuq.2 + 7 1052 c.966G>A c.(964-966)CAG>CAA p.Q322Q LAMA3_uc010dlv.1_Silent_p.Q322Q|LAMA3_uc002kur.2_Silent_p.Q322Q NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 322 Laminin EGF-like 1.|Domain V. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTGAATGCCAGCACCACACCT 0.557 NA 30 3 0 0 0.009535 0 0 LAMA3 3909 broad.mit.edu 37 18 21426388 21426388 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr18:21426388G>T uc002kuq.2 + 31 3933 c.3847G>T c.(3847-3849)GGG>TGG p.G1283W LAMA3_uc002kur.2_Missense_Mutation_p.G1283W NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 1283 Laminin EGF-like 9.|Domain III B. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCCTGAGGGTGGGCAGTGCCC 0.657 NA 96 18 1.3009e-50 2.37577e-50 0.00361 1 0 PSMA8 143471 broad.mit.edu 37 18 23738084 23738084 + Splice_Site SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr18:23738084A>T uc002kvq.2 + 4 487 c.373_splice c.e4-2 p.K125_splice PSMA8_uc002kvo.2_Splice_Site_p.K81_splice|PSMA8_uc002kvp.2_Splice_Site_p.K119_splice|PSMA8_uc002kvr.2_Splice_Site_p.K93_splice NM_144662 NP_653263 Q8TAA3 PSA7L_HUMAN proteasome alpha 8 subunit isoform 1 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex threonine-type endopeptidase activity skin(1) 1 all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124) OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181) TTATTTTTCTAGAAATATACC 0.303 NA 50 4 0 0 0.00361 0 0 KCTD1 284252 broad.mit.edu 37 18 24039845 24039845 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr18:24039845C>A uc002kvw.2 - 4 914 c.354G>T c.(352-354)CAG>CAT p.Q118H KCTD1_uc010xbj.1_Missense_Mutation_p.Q726H|KCTD1_uc010xbk.1_Missense_Mutation_p.Q118H|KCTD1_uc002kvy.2_Missense_Mutation_p.Q36H NM_001136205 NP_001129677 Q719H9 KCTD1_HUMAN potassium channel tetramerisation domain 118 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|voltage-gated potassium channel complex transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity ovary(1) 1 all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848) Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05) ACAACATGGGCTGAAGCTGAA 0.438 NA 72 19 1.14856e-27 1.87295e-27 0.00361 1 0 DSG1 1828 broad.mit.edu 37 18 28916327 28916327 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr18:28916327A>G uc002kwp.2 + 9 1228 c.1016A>G c.(1015-1017)TAT>TGT p.Y339C NM_001942 NP_001933 Q02413 DSG1_HUMAN desmoglein 1 preproprotein 339 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding skin(3)|ovary(2)|central_nervous_system(2) 7 OV - Ovarian serous cystadenocarcinoma(10;0.00559) CCCTTAGATTATGAAGCTATG 0.299 NA 11 4 0 0 0.001855 0 0 SETBP1 26040 broad.mit.edu 37 18 42530404 42530404 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr18:42530404G>T uc010dni.2 + 4 1395 c.1099G>T c.(1099-1101)GGG>TGG p.G367W NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 367 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) CAATACAGAAGGGAAAAGGGA 0.448 NA Schinzel-Giedion_syndrome 32 11 2.2171e-23 3.42756e-23 0.009535 1 0 MBD2 8932 broad.mit.edu 37 18 51686216 51686216 + Silent SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr18:51686216T>C uc002lfg.1 - 6 1396 c.1167A>G c.(1165-1167)GCA>GCG p.A389A NM_003927 NP_003918 Q9UBB5 MBD2_HUMAN methyl-CpG binding domain protein 2 isoform 1 389 transcription, DNA-dependent C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding 0 Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188) Hexobarbital(DB01355) ACAAGATGTCTGCCATCAGTG 0.418 NA 31 6 0 0 0.002445 0 0 ALPK2 115701 broad.mit.edu 37 18 56246747 56246747 + Missense_Mutation SNP C C A rs150536488 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr18:56246747C>A uc002lhj.3 - 4 1475 c.1261G>T c.(1261-1263)GGT>TGT p.G421C NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 421 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 GATGAGGGACCGTGCTTGGAG 0.557 NA OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 45 4 9.39024e-22 1.42773e-21 0.009718 1 0 ZNF532 55205 broad.mit.edu 37 18 56586262 56586262 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr18:56586262A>T uc002lho.2 + 4 1290 c.743A>T c.(742-744)AAG>ATG p.K248M ZNF532_uc002lhp.2_Missense_Mutation_p.K246M|ZNF532_uc010xeg.1_Missense_Mutation_p.K246M|ZNF532_uc002lhr.2_Missense_Mutation_p.K246M|ZNF532_uc002lhs.2_Missense_Mutation_p.K246M NM_018181 NP_060651 Q9HCE3 ZN532_HUMAN zinc finger protein 532 248 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|skin(1) 2 AGCTCCGAGAAGAATGACACC 0.502 NA 33 8 0 0 0.002836 0 0 CDH20 28316 broad.mit.edu 37 18 59221904 59221904 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr18:59221904G>T uc010dps.1 + 11 2394 c.2382G>T c.(2380-2382)TCG>TCT p.S794S CDH20_uc002lif.2_Silent_p.S788S NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN cadherin 20, type 2 preproprotein 794 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|ovary(1)|pancreas(1) 5 Colorectal(73;0.186) ACGGGGCGTCGGAGGGACCCG 0.692 NA 5 0 0.000602214 0.000632636 0.000602 1 0 PIGN 23556 broad.mit.edu 37 18 59821857 59821857 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr18:59821857T>C uc002lii.3 - 7 918 c.470A>G c.(469-471)TAT>TGT p.Y157C PIGN_uc002lij.3_Missense_Mutation_p.Y157C NM_176787 NP_789744 O95427 PIGN_HUMAN phosphatidylinositol glycan anchor biosynthesis, 157 Lumenal (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphotransferase activity, for other substituted phosphate groups p.Y157Y(1) breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 5 Colorectal(73;0.187) ATCATAACTATATGTATAAAC 0.313 NA 63 26 0 0 0.00361 0 0 SERPINB4 6318 broad.mit.edu 37 18 61306936 61306936 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr18:61306936A>T uc002ljf.2 - 6 630 c.544T>A c.(544-546)TTC>ATC p.F182I SERPINB4_uc002lje.2_Missense_Mutation_p.F182I|SERPINB4_uc002ljg.2_Intron NM_002974 NP_002965 P48594 SPB4_HUMAN serine (or cysteine) proteinase inhibitor, clade 182 immune response|regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(2)|lung(1) 3 TGCCCTTTGAAATAGATTGCG 0.313 NA 23 3 0 0 0.003954 0 0 SERPINB7 8710 broad.mit.edu 37 18 61465858 61465858 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr18:61465858G>T uc002ljl.2 + 6 571 c.475G>T c.(475-477)GGT>TGT p.G159C SERPINB7_uc002ljm.2_Missense_Mutation_p.G159C|SERPINB7_uc010xet.1_Missense_Mutation_p.G142C|SERPINB7_uc010dqg.2_Missense_Mutation_p.G159C NM_001040147 NP_001035237 O75635 SPB7_HUMAN serine (or cysteine) proteinase inhibitor, clade 159 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity lung(2)|central_nervous_system(1) 3 Esophageal squamous(42;0.129) GAACGTGATTGGTGAAGGTGG 0.333 NA 24 8 4.47668e-21 6.73766e-21 0.003954 1 0 SERPINB2 5055 broad.mit.edu 37 18 61569721 61569721 + Silent SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr18:61569721A>T uc010xeu.1 + 8 1095 c.762A>T c.(760-762)CTA>CTT p.L254L SERPINB2_uc002ljo.2_Silent_p.L254L|SERPINB2_uc010dqh.2_Silent_p.L184L|SERPINB2_uc002ljp.1_Silent_p.L59L|SERPINB2_uc002ljq.1_Silent_p.L59L NM_001143818 NP_001137290 P05120 PAI2_HUMAN serine (or cysteine) proteinase inhibitor, clade 254 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity lung(1)|skin(1) 2 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) CTCAGATTCTAGAACTCCCAT 0.413 NA 40 6 0 0 0.006999 0 0 ATP9B 374868 broad.mit.edu 37 18 77108132 77108132 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr18:77108132G>T uc002lmx.2 + 25 2853 c.2839G>T c.(2839-2841)GCT>TCT p.A947S ATP9B_uc002lmw.1_Missense_Mutation_p.A947S|ATP9B_uc002lmz.1_Missense_Mutation_p.A641S|ATP9B_uc002lna.2_Intron|ATP9B_uc002lnb.1_Intron|ATP9B_uc010drb.2_RNA NM_198531 NP_940933 O43861 ATP9B_HUMAN ATPase, class II, type 9B 947 Helical; (Potential). ATP biosynthetic process integral to membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3) 3 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) CTCTCTCCAGGCTGTGTTTTC 0.567 NA 59 21 1.87469e-40 3.32019e-40 0.00361 1 0 MED16 10025 broad.mit.edu 37 19 877041 877041 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:877041C>A uc002lqd.1 - 9 1644 c.1493G>T c.(1492-1494)AGT>ATT p.S498I MED16_uc010drw.1_Missense_Mutation_p.S323I|MED16_uc002lqe.2_Missense_Mutation_p.S487I|MED16_uc002lqf.2_Missense_Mutation_p.S487I|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Intron|MED16_uc010xfx.1_Missense_Mutation_p.S343I|MED16_uc010xfy.1_Intron NM_005481 NP_005472 Q9Y2X0 MED16_HUMAN mediator complex subunit 16 498 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTGTACCATACTGGGCTGCAC 0.677 NA 43 9 4.01765e-15 5.40344e-15 0.009718 1 0 TLE2 7089 broad.mit.edu 37 19 3009671 3009671 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:3009671G>A uc002lww.2 - 13 1305 c.1042C>T c.(1042-1044)CCC>TCC p.P348S TLE2_uc010xhb.1_Intron|TLE2_uc010dth.2_Missense_Mutation_p.P349S|TLE2_uc010xhc.1_Missense_Mutation_p.P226S|TLE2_uc010dti.2_Missense_Mutation_p.P362S|TLE2_uc010xhd.1_Missense_Mutation_p.P256S NM_003260 NP_003251 Q04725 TLE2_HUMAN transducin-like enhancer protein 2 isoform 1 348 Pro/Ser-rich. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTGGTGAAGGGACTGGACAGA 0.652 NA 18 0 0 0 0.007413 0 0 FUT6 2528 broad.mit.edu 37 19 5832203 5832203 + Missense_Mutation SNP G G A rs111589452 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:5832203G>A uc002mdf.1 - 4 902 c.376C>T c.(376-378)CGG>TGG p.R126W FUT6_uc002mdg.1_Missense_Mutation_p.R126W|FUT6_uc002mdh.1_Missense_Mutation_p.R126W|FUT6_uc010dul.1_Missense_Mutation_p.R126W NM_001040701 NP_001035791 P51993 FUT6_HUMAN fucosyltransferase 6 126 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity 0 TGCCCCTGCCGCCTCGGGGAG 0.617 NA 51 5 0 0 0.00361 0 0 C3 718 broad.mit.edu 37 19 6686289 6686289 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:6686289C>A uc002mfm.2 - 29 3718 c.3656G>T c.(3655-3657)CGC>CTC p.R1219L C3_uc002mfl.2_5'UTR NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 1219 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) GTCCTCCCAGCGGTTCTTATC 0.542 NA 36 83 8.73648e-17 1.21034e-16 0.004289 1 0 INSR 3643 broad.mit.edu 37 19 7166355 7166355 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:7166355C>A uc002mgd.1 - 8 1780 c.1671G>T c.(1669-1671)ACG>ACT p.T557T INSR_uc002mge.1_Silent_p.T557T|INSR_uc002mgf.2_Silent_p.T557T NM_000208 NP_000199 P06213 INSR_HUMAN insulin receptor isoform Long precursor 557 activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1) 12 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGTCTACCACCGTCCAACTGT 0.552 NA 35 3 1.21669e-08 1.43919e-08 0.003271 1 0 ZNF358 140467 broad.mit.edu 37 19 7584982 7584982 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:7584982A>T uc002mgn.2 + 2 1024 c.854A>T c.(853-855)CAC>CTC p.H285L MCOLN1_uc010dvh.1_5'Flank|MCOLN1_uc002mgo.2_5'Flank|MCOLN1_uc002mgp.2_5'Flank NM_018083 NP_060553 Q9NW07 ZN358_HUMAN zinc finger protein 358 285 C2H2-type 5. embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 CTGCGCACGCACACGGGCGAG 0.741 NA 6 9 0 0 0.001984 0 0 OR2Z1 284383 broad.mit.edu 37 19 8841989 8841989 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:8841989C>A uc010xkg.1 + 1 599 c.599C>A c.(598-600)TCC>TAC p.S200Y NM_001004699 NP_001004699 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, 200 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 ATGGCGCTGTCCACCTCAGGG 0.582 NA OREG0007662 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=OR2Z1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 89 11 2.00703e-41 3.56109e-41 0.00361 1 0 OR2Z1 284383 broad.mit.edu 37 19 8842092 8842092 + Silent SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:8842092A>G uc010xkg.1 + 1 702 c.702A>G c.(700-702)AGA>AGG p.R234R NM_001004699 NP_001004699 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, 234 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 AGGAGGCCAGACACAAGGCTG 0.587 NA 49 10 0 0 0.00361 0 0 MUC16 94025 broad.mit.edu 37 19 9060014 9060014 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:9060014G>T uc002mkp.2 - 3 27636 c.27432C>A c.(27430-27432)GCC>GCA p.A9144A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 9146 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTGAGAAAGAGGCAGAGCTGG 0.493 NA 19 7 5.3912e-06 5.93431e-06 0.006122 1 0 MUC16 94025 broad.mit.edu 37 19 9067730 9067730 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:9067730C>T uc002mkp.2 - 3 19920 c.19716G>A c.(19714-19716)AAG>AAA p.K6572K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 6574 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TAGTCGGTATCTTATGTGAGG 0.453 NA 56 14 0 0 0.00361 0 0 MUC16 94025 broad.mit.edu 37 19 9088057 9088057 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:9088057A>T uc002mkp.2 - 1 3962 c.3758T>A c.(3757-3759)CTC>CAC p.L1253H NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1253 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTGTGCTCCGAGGTGGATGCT 0.507 NA 354 78 0 0 0.00361 0 0 OR7D4 125958 broad.mit.edu 37 19 9325053 9325053 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:9325053C>A uc002mla.1 - 1 461 c.461G>T c.(460-462)TGG>TTG p.W154L NM_001005191 NP_001005191 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, 154 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 CAGGGAGAACCAGAAAATGAT 0.527 NA 50 11 2.24722e-20 3.3406e-20 0.00361 1 0 DNMT1 1786 broad.mit.edu 37 19 10254444 10254444 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:10254444G>A uc002mng.2 - 28 3246 c.3066C>T c.(3064-3066)TAC>TAT p.Y1022Y DNMT1_uc002mnf.2_5'UTR|DNMT1_uc010xlc.1_Silent_p.Y1038Y|DNMT1_uc002mnh.2_Silent_p.Y917Y|DNMT1_uc010xld.1_Silent_p.Y1022Y NM_001379 NP_001370 P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 isoform b 1022 BAH 2. chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) CTGCTGACCTGTAGAACTTGT 0.512 NA 157 281 0 0 0.00361 0 0 FARSA 2193 broad.mit.edu 37 19 13039359 13039359 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:13039359G>A uc002mvs.2 - 6 763 c.715C>T c.(715-717)CTG>TTG p.L239L FARSA_uc002mvt.2_Intron|FARSA_uc010xmv.1_Silent_p.L208L|FARSA_uc010dyy.1_Silent_p.L160L NM_004461 NP_004452 Q9Y285 SYFA_HUMAN phenylalanyl-tRNA synthetase, alpha subunit 239 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding ovary(1) 1 L-Phenylalanine(DB00120) CCCATCTCCAGGAAGATCTGT 0.642 NA 14 5 0 0 0.00245 0 0 CACNA1A 773 broad.mit.edu 37 19 13323474 13323474 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:13323474G>T uc010dze.2 - 41 6260 c.6024C>A c.(6022-6024)CCC>CCA p.P2008P CACNA1A_uc010xnd.1_Silent_p.P713P|CACNA1A_uc002mwx.3_Silent_p.P713P|CACNA1A_uc010dzc.2_Silent_p.P1533P|CACNA1A_uc002mwy.3_Silent_p.P2007P|CACNA1A_uc002mwv.3_Silent_p.P524P NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 2008 Cytoplasmic (Potential). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GCTGGGTGGAGGGGAGGGCGT 0.682 NA 6 2 8.12818e-05 8.70909e-05 0.001984 1 0 ZSWIM4 65249 broad.mit.edu 37 19 13919735 13919735 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:13919735G>A uc002mxh.1 + 4 987 c.798G>A c.(796-798)AAG>AAA p.K266K ZSWIM4_uc010xng.1_Silent_p.K72K NM_023072 NP_075560 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 266 zinc ion binding central_nervous_system(2) 2 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) AGCAGGTGAAGCAGCTACTGT 0.592 NA 4 10 0 0 0.009096 0 0 CLEC17A 388512 broad.mit.edu 37 19 14710863 14710863 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:14710863C>A uc010dzn.1 + 12 840 c.763C>A c.(763-765)CCT>ACT p.P255T CLEC17A_uc002mzh.1_Missense_Mutation_p.P238T|CLEC17A_uc010xnt.1_RNA|CLEC17A_uc010xnu.1_Intron|CLEC17A_uc010dzo.1_Missense_Mutation_p.P255T Q6ZS10 CL17A_HUMAN SubName: Full=CLEC17A protein; 255 Extracellular (Potential). cell surface|integral to membrane fucose binding|mannose binding|metal ion binding|receptor activity 0 AATTACCTGTCCTGAAGGCTG 0.483 NA 33 12 4.34311e-12 5.48991e-12 0.003271 1 0 SYDE1 85360 broad.mit.edu 37 19 15220176 15220176 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:15220176G>C uc002nah.1 + 2 429 c.398G>C c.(397-399)GGC>GCC p.G133A SYDE1_uc002nai.1_Missense_Mutation_p.G66A|SYDE1_uc002naj.1_5'UTR NM_033025 NP_149014 Q6ZW31 SYDE1_HUMAN synapse defective 1, Rho GTPase, homolog 1 133 Pro-rich. activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity ovary(1)|pancreas(1) 2 CCACAGCCTGGCTCAGCTGAG 0.647 NA 12 16 0 0 0.00245 0 0 CYP4F22 126410 broad.mit.edu 37 19 15636206 15636206 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:15636206G>C uc002nbh.3 + 3 226 c.59G>C c.(58-60)CGC>CCC p.R20P NM_173483 NP_775754 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, 20 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ovary(1)|pancreas(1) 2 ACGGCGTTCCGCATATACGCG 0.622 NA 12 26 0 0 0.001368 0 0 CYP4F2 8529 broad.mit.edu 37 19 15996831 15996831 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:15996831C>G uc002nbs.1 - 9 1068 c.1018G>C c.(1018-1020)GTC>CTC p.V340L CYP4F2_uc010xot.1_Missense_Mutation_p.V191L|CYP4F2_uc010xou.1_Silent_p.G168G NM_001082 NP_001073 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, 340 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding ovary(1)|skin(1) 2 TGGTACAGGACCCAGGAGAGA 0.597 NA 13 66 0 0 0.003163 0 0 UPF1 5976 broad.mit.edu 37 19 18965953 18965953 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:18965953G>T uc002nkg.2 + 11 1754 c.1479G>T c.(1477-1479)GTG>GTT p.V493V UPF1_uc002nkf.2_Silent_p.V482V NM_002911 NP_002902 Q92900 RENT1_HUMAN regulator of nonsense transcripts 1 493 cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 TGAAGACTGTGCTGCAAAGAC 0.672 NA 32 11 6.00712e-18 8.55506e-18 0.002445 1 0 ZNF90 7643 broad.mit.edu 37 19 20229559 20229559 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:20229559G>A uc002nor.2 + 4 1335 c.1196G>A c.(1195-1197)TGT>TAT p.C399Y ZNF90_uc002nos.1_Intron|ZNF90_uc002not.1_Intron NM_007138 NP_009069 Q03938 ZNF90_HUMAN zinc finger protein 90 399 C2H2-type 9. Golgi apparatus|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 CCCTACAAATGTGAAGAATGT 0.358 NA 3 8 0 0 0.004672 0 0 ZNF431 170959 broad.mit.edu 37 19 21365467 21365467 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:21365467G>T uc002npp.2 + 5 508 c.361G>T c.(361-363)GAC>TAC p.D121Y ZNF431_uc010ecq.2_Missense_Mutation_p.D30Y|ZNF431_uc010ecr.2_Missense_Mutation_p.D122Y NM_133473 NP_597730 Q8TF32 ZN431_HUMAN zinc finger protein 431 121 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2) 2 GCCAGAGCAAGACATAAAAGA 0.323 NA 22 3 8.04996e-18 1.14307e-17 0.001882 1 0 ZNF676 163223 broad.mit.edu 37 19 22362994 22362994 + Nonsense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:22362994C>A uc002nqs.1 - 3 1843 c.1525G>T c.(1525-1527)GAA>TAA p.E509* NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 509 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TTGCCACATTCTTCACATTTG 0.388 NA 13 26 1.61879e-10 1.98651e-10 0.001368 1 0 ATP4A 495 broad.mit.edu 37 19 36051513 36051513 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:36051513G>A uc002oal.1 - 6 568 c.539C>T c.(538-540)GCC>GTC p.A180V ATP4A_uc010eee.1_5'Flank NM_000704 NP_000695 P20648 ATP4A_HUMAN hydrogen/potassium-exchanging ATPase 4A 180 Cytoplasmic (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding ovary(1) 1 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) GATGACAGTGGCTTGCTGCGG 0.622 NA 21 5 0 0 0.002299 0 0 NPHS1 4868 broad.mit.edu 37 19 36322197 36322197 + Splice_Site SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:36322197C>A uc002oby.2 - 26 3387 c.3387_splice c.e26+1 p.T1129_splice NPHS1_uc010eem.1_Splice_Site NM_004646 NP_004637 O60500 NPHN_HUMAN nephrin precursor cell adhesion|excretion|muscle organ development integral to plasma membrane ovary(4)|skin(1) 5 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCCCCACTTACCGTGGAGCTC 0.612 NA 48 12 1.61863e-15 2.19525e-15 0.00361 1 0 NPHS1 4868 broad.mit.edu 37 19 36338987 36338987 + Silent SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:36338987A>G uc002oby.2 - 11 1396 c.1396T>C c.(1396-1398)TTG>CTG p.L466L NM_004646 NP_004637 O60500 NPHN_HUMAN nephrin precursor 466 Extracellular (Potential).|Ig-like C2-type 5. cell adhesion|excretion|muscle organ development integral to plasma membrane ovary(4)|skin(1) 5 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCGATAGCCAAACACACCAGC 0.652 NA 34 12 0 0 0.003755 0 0 RYR1 6261 broad.mit.edu 37 19 38939429 38939429 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:38939429G>A uc002oit.2 + 11 1228 c.1098G>A c.(1096-1098)CTG>CTA p.L366L RYR1_uc002oiu.2_Silent_p.L366L NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 366 Cytoplasmic.|MIR 5. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CCAAGGCCCTGCGGCTCGGCG 0.408 NA 32 5 0 0 0.002445 0 0 RYR1 6261 broad.mit.edu 37 19 38993190 38993190 + Missense_Mutation SNP A A C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:38993190A>C uc002oit.2 + 48 7788 c.7658A>C c.(7657-7659)TAC>TCC p.Y2553S RYR1_uc002oiu.2_Missense_Mutation_p.Y2553S|RYR1_uc002oiv.1_5'UTR NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 2553 Cytoplasmic.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTGAACCGCTACCTGTGCCTG 0.652 NA 23 2 0 0 0.00333 0 0 MAP3K10 4294 broad.mit.edu 37 19 40710509 40710509 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:40710509G>T uc002ona.2 + 3 1269 c.981G>T c.(979-981)ACG>ACT p.T327T MAP3K10_uc002onb.2_5'UTR NM_002446 NP_002437 Q02779 M3K10_HUMAN mitogen-activated protein kinase kinase kinase 327 Protein kinase. activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway cytoplasm ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity ovary(2)|lung(2)|skin(1)|pancreas(1) 6 TTCCCTCCACGTGCCCCGAGC 0.672 NA 28 30 5.60225e-13 7.19439e-13 0.009535 1 0 C19orf47 126526 broad.mit.edu 37 19 40832386 40832386 + Silent SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:40832386C>G uc002oni.3 - 7 559 c.558G>C c.(556-558)CTG>CTC p.L186L C19orf47_uc002ong.2_Silent_p.L45L|C19orf47_uc002onh.2_Silent_p.L119L NM_178830 NP_849152 Q8N9M1 CS047_HUMAN hypothetical protein LOC126526 186 ovary(1)|skin(1) 2 Lung(22;0.000636) CCCGGCGGGCCAGGGCTGCTG 0.597 NA 7 15 0 0 0.001984 0 0 SPTBN4 57731 broad.mit.edu 37 19 41009860 41009860 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:41009860G>A uc002ony.2 + 12 1572 c.1486G>A c.(1486-1488)GCA>ACA p.A496T SPTBN4_uc002onx.2_Missense_Mutation_p.A496T|SPTBN4_uc002onz.2_Missense_Mutation_p.A496T NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 496 Spectrin 3. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CCAGGCATTGGCAGCCGAAGG 0.667 NA 38 8 0 0 0.00623 0 0 LTBP4 8425 broad.mit.edu 37 19 41135376 41135376 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:41135376C>G uc002ooh.1 + 34 4796 c.4796C>G c.(4795-4797)TCC>TGC p.S1599C LTBP4_uc002oog.1_Missense_Mutation_p.S1562C|LTBP4_uc002ooi.1_Missense_Mutation_p.S1532C|LTBP4_uc002ooj.1_Missense_Mutation_p.S472C|LTBP4_uc002ool.1_Missense_Mutation_p.S611C|LTBP4_uc010xvp.1_Missense_Mutation_p.S359C NM_001042544 NP_001036009 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding 1599 EGF-like 16. growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) ACGGATGGCTCCTTCCGCTGC 0.701 NA 22 22 0 0 0.001882 0 0 CYP2B6 1555 broad.mit.edu 37 19 41518391 41518391 + Splice_Site SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:41518391G>T uc002opr.1 + 7 1159 c.1152_splice c.e7+1 p.K384_splice CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Splice_Site_p.K184_splice NM_000767 NP_000758 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) CATCCCCAAGGTAAGACCGGC 0.512 NA 42 10 4.67007e-22 7.12858e-22 0.00874 1 0 CYP2A13 1553 broad.mit.edu 37 19 41596345 41596345 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:41596345C>T uc002opt.2 + 4 539 c.530C>T c.(529-531)ACA>ATA p.T177I NM_000766 NP_000757 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, 177 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding ovary(2)|skin(1) 3 Clomipramine(DB01242)|Nicotine(DB00184) CTGAGCCGCACAGTCTCCAAT 0.552 NA 76 22 0 0 0.00361 0 0 PSG8 440533 broad.mit.edu 37 19 43258502 43258502 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:43258502A>G uc002ouo.2 - 5 1324 c.1226T>C c.(1225-1227)ATG>ACG p.M409T PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_RNA|PSG8_uc002oui.2_Missense_Mutation_p.M248T|PSG8_uc002ouh.2_Missense_Mutation_p.M409T|PSG8_uc010ein.2_Missense_Mutation_p.M287T|PSG8_uc002ouj.3_Missense_Mutation_p.M191T|PSG8_uc002ouk.3_Missense_Mutation_p.M248T|PSG8_uc002oul.3_Missense_Mutation_p.M409T|PSG8_uc002oum.3_Missense_Mutation_p.M316T|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.M316T NM_182707 NP_874366 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 isoform 409 Ig-like C2-type 3. extracellular region 0 Prostate(69;0.00899) TTTTACTGTCATGGATTTGGA 0.458 NA 211 48 0 0 0.00361 0 0 IRF2BP1 26145 broad.mit.edu 37 19 46388940 46388940 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:46388940G>T uc002pds.1 - 1 437 c.93C>A c.(91-93)GCC>GCA p.A31A NM_015649 NP_056464 Q8IU81 I2BP1_HUMAN interferon regulatory factor 2 binding protein 31 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231) CGCGACACACGGCCTCGCTGA 0.697 NA 13 1 9.31168e-06 1.02091e-05 0.001855 1 0 ZC3H4 23211 broad.mit.edu 37 19 47589728 47589728 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:47589728C>T uc002pga.3 - 6 821 c.783G>A c.(781-783)ATG>ATA p.M261I ZC3H4_uc002pgb.1_Intron NM_015168 NP_055983 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 261 Gly-rich. nucleic acid binding|zinc ion binding skin(4)|ovary(2) 6 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) TGCCCCTGCCCATGCCGCGGC 0.647 NA 35 6 0 0 0.004289 0 0 SULT2A1 6822 broad.mit.edu 37 19 48382354 48382354 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:48382354C>T uc002phr.2 - 4 646 c.506G>A c.(505-507)GGC>GAC p.G169D NM_003167 NP_003158 Q06520 ST2A1_HUMAN bile-salt sulfotransferase 2A1 169 3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process cytosol bile-salt sulfotransferase activity ovary(1)|pancreas(1) 2 all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552) GGGCATCCAGCCATGAATGTG 0.438 NA 50 72 0 0 0.00361 0 0 RPL13A 23521 broad.mit.edu 37 19 49993753 49993753 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:49993753G>T uc002pny.2 + 4 198 c.176G>T c.(175-177)CGC>CTC p.R59L RPL13A_uc002pnz.2_5'UTR|RPL13A_uc002poa.2_Missense_Mutation_p.R49L|SNORD33_uc010emz.1_5'Flank|SNORD34_uc010ena.1_5'Flank|SNORD35A_uc010enb.1_5'Flank NM_012423 NP_036555 P40429 RL13A_HUMAN ribosomal protein L13a 59 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|large ribosomal subunit structural constituent of ribosome 0 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) GCTTTCCTCCGCAAGCGGATG 0.627 NA 42 9 6.31075e-24 9.86661e-24 0.00361 1 0 CPT1C 126129 broad.mit.edu 37 19 50208355 50208355 + Missense_Mutation SNP G G T rs143361095 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:50208355G>T uc002ppj.2 + 8 1068 c.863G>T c.(862-864)CGC>CTC p.R288L CPT1C_uc002ppl.3_Missense_Mutation_p.R254L|CPT1C_uc002ppi.2_Missense_Mutation_p.R205L|CPT1C_uc002ppk.2_Missense_Mutation_p.R277L|CPT1C_uc010eng.2_Missense_Mutation_p.R288L|CPT1C_uc010enh.2_Missense_Mutation_p.R288L|CPT1C_uc010ybc.1_Missense_Mutation_p.R126L|CPT1C_uc010eni.1_5'Flank NM_152359 NP_689572 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C isoform 2 288 Cytoplasmic (Potential). fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) CGCCTGAACCGCCAGGAGATA 0.662 NA 67 11 9.12251e-31 1.52885e-30 0.00361 1 0 KLK2 3817 broad.mit.edu 37 19 51379992 51379992 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:51379992G>T uc002ptv.2 + 3 512 c.471G>T c.(469-471)TGG>TGT p.W157C KLK2_uc010eog.2_Missense_Mutation_p.W55C|KLK2_uc010yck.1_Missense_Mutation_p.W157C|KLK2_uc002ptu.2_Missense_Mutation_p.W157C|KLK2_uc002ptt.2_RNA|KLK2_uc010ycl.1_Missense_Mutation_p.W140C|KLK2_uc010ycm.1_Missense_Mutation_p.W55C|KLK2_uc010eoh.2_Missense_Mutation_p.W55C NM_005551 NP_005542 P20151 KLK2_HUMAN kallikrein 2, prostatic isoform 1 157 Peptidase S1. proteolysis serine-type endopeptidase activity ovary(1)|skin(1) 2 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871) CCTCAGGCTGGGGCAGCATCG 0.637 NA T ETV4 prostate 26 19 4.4004e-07 4.97101e-07 0.00333 1 0 KLK10 5655 broad.mit.edu 37 19 51518109 51518109 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:51518109T>A uc002puy.2 - 6 859 c.778A>T c.(778-780)ACC>TCC p.T260S KLK10_uc002puz.2_Missense_Mutation_p.T260S|KLK10_uc002pva.2_Missense_Mutation_p.T260S NM_145888 NP_665895 O43240 KLK10_HUMAN kallikrein-related peptidase 10 preproprotein 260 Peptidase S1. cell cycle|proteolysis extracellular region serine-type endopeptidase activity lung(2) 2 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885) CAGATCTGGGTGTAGACAGCT 0.542 NA 23 72 0 0 0.00278 0 0 C19orf75 284369 broad.mit.edu 37 19 51770667 51770667 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:51770667G>A uc002pwb.1 + 5 832 c.451G>A c.(451-453)GCG>ACG p.A151T C19orf75_uc010eov.1_RNA|C19orf75_uc010ycw.1_Missense_Mutation_p.A57T NM_173635 NP_775906 Q8N7X8 CS075_HUMAN hypothetical protein LOC284369 151 integral to membrane ovary(1)|pancreas(1) 2 GAAAGCTGCAGCGATCAGAGC 0.473 NA 37 92 0 0 0.003271 0 0 CEACAM18 729767 broad.mit.edu 37 19 51983828 51983828 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:51983828C>T uc002pwv.1 + 3 477 c.477C>T c.(475-477)GGC>GGT p.G159G NM_001080405 NP_001073874 A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion 159 integral to membrane skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) ACAGAGAAGGCAGCCTGTTGA 0.562 NA 30 20 0 0 0.007291 0 0 SIGLEC6 946 broad.mit.edu 37 19 52034179 52034179 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:52034179C>T uc002pwy.2 - 3 624 c.462G>A c.(460-462)GGG>GGA p.G154G SIGLEC6_uc002pwz.2_Silent_p.G154G|SIGLEC6_uc002pxa.2_Silent_p.G154G|SIGLEC6_uc010ydb.1_Silent_p.G107G|SIGLEC6_uc010ydc.1_Silent_p.G143G|SIGLEC6_uc010eoz.1_Silent_p.G132G|SIGLEC6_uc010epb.1_Silent_p.G107G|SIGLEC6_uc010epa.1_Silent_p.G143G NM_001245 NP_001236 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 isoform 1 154 Ig-like C2-type 1.|Extracellular (Potential). cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus ovary(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) ACTCCAGGGTCCCTGGGATGG 0.637 NA 79 64 0 0 0.00361 0 0 ZNF577 84765 broad.mit.edu 37 19 52376688 52376688 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:52376688G>T uc010yde.1 - 7 946 c.555C>A c.(553-555)CCC>CCA p.P185P ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.3_Silent_p.P126P|ZNF577_uc002pxv.2_Silent_p.P178P|ZNF577_uc002pxw.2_Silent_p.P119P NM_032679 NP_116068 Q9BSK1 ZN577_HUMAN zinc finger protein 577 isoform a 185 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019) CACATCCATGGGGTTTCTCTC 0.478 NA 60 46 1.19553e-41 2.12319e-41 0.00361 1 0 ZNF578 147660 broad.mit.edu 37 19 53014061 53014061 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:53014061G>T uc002pzp.3 + 6 671 c.427G>T c.(427-429)GAT>TAT p.D143Y NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN zinc finger protein 578 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) AGACCGACATGATCAAAGGCA 0.393 NA 103 69 6.21867e-57 1.14651e-56 0.00361 1 0 VN1R2 317701 broad.mit.edu 37 19 53762072 53762072 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:53762072G>T uc002qbi.2 + 1 528 c.444G>T c.(442-444)ATG>ATT p.M148I NM_173856 NP_776255 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 148 Extracellular (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity 0 GBM - Glioblastoma multiforme(134;0.00301) CAGAGACCATGGCAACTTTTG 0.438 NA 22 48 1.10923e-09 1.33494e-09 0.00278 1 0 CACNG6 59285 broad.mit.edu 37 19 54515347 54515347 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:54515347G>T uc002qct.2 + 4 1277 c.687G>T c.(685-687)CTG>CTT p.L229L CACNG6_uc002qcu.2_Silent_p.L183L|CACNG6_uc002qcv.2_Silent_p.L158L NM_145814 NP_665813 Q9BXT2 CCG6_HUMAN voltage-dependent calcium channel gamma-6 229 Helical; (Potential). voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(2) 2 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.168) GGGCCGGCCTGATCCTGCTGT 0.716 NA 23 74 5.35356e-11 6.63704e-11 0.00278 1 0 PRPF31 26121 broad.mit.edu 37 19 54621832 54621832 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:54621832G>C uc002qdh.2 + 2 570 c.174G>C c.(172-174)AAG>AAC p.K58N TFPT_uc010yej.1_5'Flank|TFPT_uc010erd.2_5'Flank|PRPF31_uc010yek.1_Missense_Mutation_p.K58N NM_015629 NP_056444 Q8WWY3 PRP31_HUMAN pre-mRNA processing factor 31 homolog 58 assembly of spliceosomal tri-snRNP Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP RNA binding|snRNP binding ovary(1) 1 all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GGGATAGTAAGATGGTAAGAG 0.398 NA 59 114 0 0 0.00361 0 0 LILRB2 10288 broad.mit.edu 37 19 54782228 54782228 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:54782228G>A uc002qfb.2 - 7 1410 c.1144C>T c.(1144-1146)CCC>TCC p.P382S LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.P382S|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.P382S|LILRB2_uc010yet.1_Missense_Mutation_p.P266S|LILRB2_uc010yeu.1_RNA NM_005874 NP_005865 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, 382 Extracellular (Potential).|Ig-like C2-type 4. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity skin(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGACTCATGGGGAATTCAGCC 0.582 NA 109 76 0 0 0.00361 0 0 NLRP7 199713 broad.mit.edu 37 19 55451566 55451566 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:55451566C>A uc002qih.3 - 4 697 c.621G>T c.(619-621)GCG>GCT p.A207A NLRP7_uc002qig.3_Silent_p.A207A|NLRP7_uc002qii.3_Silent_p.A207A|NLRP7_uc010esk.2_Silent_p.A207A|NLRP7_uc010esl.2_Silent_p.A235A NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 207 NACHT. ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) TGAGGTAGAACGCGTATCTGA 0.582 NA 38 30 3.33393e-15 4.49953e-15 0.004878 1 0 NLRP2 55655 broad.mit.edu 37 19 55493576 55493576 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:55493576G>C uc002qij.2 + 6 596 c.510G>C c.(508-510)GAG>GAC p.E170D NLRP2_uc010yfp.1_Missense_Mutation_p.E147D|NLRP2_uc010esn.2_Missense_Mutation_p.E146D|NLRP2_uc010eso.2_Missense_Mutation_p.E167D|NLRP2_uc010esp.2_Missense_Mutation_p.E148D NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 170 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) AGTTCCGGGAGATGTGGAAGA 0.502 NA 78 196 0 0 0.00361 0 0 NLRP13 126204 broad.mit.edu 37 19 56443530 56443530 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:56443530C>A uc010ygg.1 - 1 173 c.148G>T c.(148-150)GGG>TGG p.G50W NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 50 DAPIN. ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) GGGAAGTGCCCCTGGGGGGCC 0.547 NA 51 49 1.56793e-16 2.16443e-16 0.00361 1 0 NLRP8 126205 broad.mit.edu 37 19 56487608 56487608 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:56487608G>A uc002qmh.2 + 8 2886 c.2815G>A c.(2815-2817)GAT>AAT p.D939N NLRP8_uc010etg.2_Missense_Mutation_p.D920N NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 939 LRR 5. cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CCTGAAGGATGATGGGGTGAT 0.468 NA 41 79 0 0 0.009718 0 0 NLRP5 126206 broad.mit.edu 37 19 56544100 56544100 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:56544100C>A uc002qmj.2 + 8 2400 c.2400C>A c.(2398-2400)ACC>ACA p.T800T NLRP5_uc002qmi.2_Silent_p.T781T NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 800 LRR 3. mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CCATGAAGACCCTGTGTGCCA 0.607 NA 48 58 3.16986e-14 4.16758e-14 0.00361 1 0 PEG3 5178 broad.mit.edu 37 19 57325401 57325401 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:57325401C>G uc002qnu.2 - 7 4760 c.4409G>C c.(4408-4410)GGA>GCA p.G1470A ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G1441A|PEG3_uc002qnv.2_Missense_Mutation_p.G1470A|PEG3_uc002qnw.2_Missense_Mutation_p.G1346A|PEG3_uc002qnx.2_Missense_Mutation_p.G1344A|PEG3_uc010etr.2_Missense_Mutation_p.G1470A NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 1470 Glu-rich. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TTCAGCTTTTCCCTCTGGCTC 0.527 NA 54 134 0 0 0.00361 0 0 ZIM3 114026 broad.mit.edu 37 19 57646867 57646867 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:57646867G>T uc002qnz.1 - 5 1224 c.838C>A c.(838-840)CAG>AAG p.Q280K NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 280 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TCATTACACTGATAGGATTTC 0.378 NA 56 42 1.11015e-26 1.79368e-26 0.00361 1 0 ZNF304 57343 broad.mit.edu 37 19 57868146 57868146 + Silent SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:57868146A>T uc010ygw.1 + 3 1297 c.909A>T c.(907-909)GGA>GGT p.G303G ZNF304_uc010etw.2_Silent_p.G350G|ZNF304_uc010etx.2_Silent_p.G261G NM_020657 NP_065708 Q9HCX3 ZN304_HUMAN zinc finger protein 304 303 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) TTCACACTGGAAAAAGACACT 0.428 NA 17 49 0 0 0.008871 0 0 ZNF548 147694 broad.mit.edu 37 19 57910682 57910682 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:57910682G>T uc002qom.2 + 3 1277 c.1027G>T c.(1027-1029)GGG>TGG p.G343W ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.G346W NM_152909 NP_690873 Q8NEK5 ZN548_HUMAN zinc finger protein 548 343 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CAATGATTGTGGGAAATTTTT 0.408 NA 17 44 3.45872e-05 3.74953e-05 0.004007 1 0 ZNF256 10172 broad.mit.edu 37 19 58453766 58453766 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:58453766T>A uc002qqu.2 - 3 645 c.410A>T c.(409-411)CAG>CTG p.Q137L ZNF256_uc010euj.2_5'UTR NM_005773 NP_005764 Q9Y2P7 ZN256_HUMAN zinc finger protein 256 137 multicellular organismal development|negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding upper_aerodigestive_tract(1)|skin(1) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155) ATGCTGCTTCTGGTGCTGATG 0.458 NSCLC(55;1313 1552 8040 11996) NA 64 65 0 0 0.00361 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58551820 58551820 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:58551820C>A uc002qrc.1 + 4 620 c.373C>A c.(373-375)CTG>ATG p.L125M NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 125 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CCGCACAGTTCTGGTATCTCT 0.587 NA 50 121 2.47907e-22 3.79613e-22 0.00361 1 0 SLC27A5 10998 broad.mit.edu 37 19 59021368 59021368 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:59021368G>A uc002qtc.2 - 3 1013 c.903C>T c.(901-903)CTC>CTT p.L301L NM_012254 NP_036386 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid 301 Cytoplasmic (Probable).|AMP (Potential). bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity 0 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) CTGGCTTCGGGAGGCCTTGGG 0.577 NA 10 47 0 0 0.008291 0 0 TPO 7173 broad.mit.edu 37 2 1460007 1460007 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:1460007G>T uc002qww.2 + 7 863 c.772G>T c.(772-774)GAC>TAC p.D258Y TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.D258Y|TPO_uc002qwr.2_Missense_Mutation_p.D258Y|TPO_uc002qwx.2_Missense_Mutation_p.D258Y|TPO_uc010yio.1_Missense_Mutation_p.D258Y|TPO_uc010yip.1_Missense_Mutation_p.D258Y NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 258 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GGGAGGGGCTGACTGCCAGAT 0.463 NA 19 11 3.51602e-12 4.46779e-12 0.008871 1 0 ALLC 55821 broad.mit.edu 37 2 3743442 3743442 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:3743442G>T uc010ewt.2 + 8 808 c.647G>T c.(646-648)GGG>GTG p.G216V ALLC_uc002qyf.2_5'UTR NM_018436 NP_060906 Q8N6M5 ALLC_HUMAN allantoicase isoform a 235 allantoicase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) GCTAAGTTTGGGCACCCAAAC 0.443 NA HNSCC(21;0.051) 14 20 4.36969e-10 5.31174e-10 0.001855 1 0 KCNF1 3754 broad.mit.edu 37 2 11052723 11052723 + Silent SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:11052723T>A uc002rax.2 + 1 661 c.171T>A c.(169-171)GCT>GCA p.A57A NM_002236 NP_002227 Q9H3M0 KCNF1_HUMAN potassium voltage-gated channel, subfamily F, 57 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128) ACTGCTTGGCTGGGGGCTACG 0.622 NA 7 31 0 0 0.001984 0 0 NTSR2 23620 broad.mit.edu 37 2 11809768 11809768 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:11809768G>A uc002rbq.3 - 1 562 c.488C>T c.(487-489)TCG>TTG p.S163L NM_012344 NP_036476 O95665 NTR2_HUMAN neurotensin receptor 2 163 Helical; Name=4; (Potential). sensory perception integral to plasma membrane 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24) Levocabastine(DB01106) GAGGCCGAGCGAGGCGGCCCA 0.746 NA 3 10 0 0 0.004672 0 0 TRIB2 28951 broad.mit.edu 37 2 12880825 12880825 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:12880825A>T uc002rbv.3 + 3 2373 c.937A>T c.(937-939)AGC>TGC p.S313C TRIB2_uc010yjp.1_Missense_Mutation_p.S177C NM_021643 NP_067675 Q92519 TRIB2_HUMAN tribbles homolog 2 313 negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity cytoplasm|cytoskeleton|nucleus ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity stomach(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TACAGATTTTAGCGTCTCGAA 0.517 NA 38 23 0 0 0.007835 0 0 NBAS 51594 broad.mit.edu 37 2 15493719 15493719 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:15493719G>T uc002rcc.1 - 34 4073 c.4047C>A c.(4045-4047)AGC>AGA p.S1349R NBAS_uc010exl.1_Missense_Mutation_p.S421R|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 1349 ovary(2)|liver(1)|skin(1) 4 GAAGTTCAATGCTGCTAGGAG 0.473 NA 47 105 1.57945e-13 2.05425e-13 0.002852 1 0 WDR35 57539 broad.mit.edu 37 2 20173368 20173368 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:20173368C>A uc002rdi.2 - 8 946 c.838G>T c.(838-840)GAC>TAC p.D280Y WDR35_uc002rdj.2_Missense_Mutation_p.D280Y|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_5'UTR NM_001006657 NP_001006658 Q9P2L0 WDR35_HUMAN WD repeat domain 35 isoform 1 280 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACATCTTTGTCCTGCATGGCT 0.453 NA 12 48 4.3838e-07 4.96386e-07 0.001855 1 0 PUM2 23369 broad.mit.edu 37 2 20482713 20482713 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:20482713G>A uc002rds.1 - 11 1738 c.1715C>T c.(1714-1716)TCA>TTA p.S572L PUM2_uc002rdt.1_Missense_Mutation_p.S572L|PUM2_uc002rdr.2_Missense_Mutation_p.S511L|PUM2_uc010yjy.1_Missense_Mutation_p.S572L|PUM2_uc002rdu.1_Missense_Mutation_p.S572L|PUM2_uc010yjz.1_Missense_Mutation_p.S511L NM_015317 NP_056132 Q8TB72 PUM2_HUMAN pumilio homolog 2 572 Ser-rich. regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTTACCTGATGAACCAAATCC 0.408 NA 17 27 0 0 0.006122 0 0 C2orf43 60526 broad.mit.edu 37 2 20990127 20990127 + Silent SNP T T G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:20990127T>G uc002rec.2 - 3 219 c.186A>C c.(184-186)CCA>CCC p.P62P C2orf43_uc002rea.1_Silent_p.P62P|C2orf43_uc002reb.1_RNA|C2orf43_uc010yka.1_Intron|C2orf43_uc010ykb.1_5'UTR|C2orf43_uc010ykc.1_Intron|C2orf43_uc010ykd.1_Silent_p.P62P|C2orf43_uc010yke.1_Intron|C2orf43_uc010ykf.1_Intron NM_021925 NP_068744 Q9H6V9 CB043_HUMAN hypothetical protein LOC60526 62 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCTTTGCAAATGGCACATAAA 0.408 NA 16 79 0 0 0.00499 0 0 APOB 338 broad.mit.edu 37 2 21228598 21228598 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:21228598G>T uc002red.2 - 26 11270 c.11142C>A c.(11140-11142)CCC>CCA p.P3714P NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 3714 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AATAGCCATTGGGGTTTTTGG 0.403 NA 50 28 3.86361e-14 5.06934e-14 0.00361 1 0 APOB 338 broad.mit.edu 37 2 21230918 21230918 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:21230918G>A uc002red.2 - 26 8950 c.8822C>T c.(8821-8823)ACA>ATA p.T2941I NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 2941 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TGATTCATGTGTTCCCTCATC 0.438 NA 92 73 0 0 0.00361 0 0 ITSN2 50618 broad.mit.edu 37 2 24522911 24522911 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:24522911C>A uc002rfe.2 - 12 1469 c.1211G>T c.(1210-1212)TGG>TTG p.W404L ITSN2_uc002rff.2_Missense_Mutation_p.W404L|ITSN2_uc002rfg.2_Missense_Mutation_p.W404L|ITSN2_uc010eyd.2_Missense_Mutation_p.W429L NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN intersectin 2 isoform 1 404 Potential. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity kidney(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTTTCGTTCCCACTCTTCCTT 0.453 NA 40 143 3.43241e-23 5.29369e-23 0.009718 1 0 ADCY3 109 broad.mit.edu 37 2 25064493 25064493 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:25064493C>A uc002rfs.3 - 4 1199 c.1000G>T c.(1000-1002)GCC>TCC p.A334S ADCY3_uc002rfr.3_5'UTR|ADCY3_uc010ykm.1_Missense_Mutation_p.A334S NM_004036 NP_004027 O60266 ADCY3_HUMAN adenylate cyclase 3 334 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding breast(3)|ovary(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) GCACTGCAGGCAGAAGACAGC 0.622 NA 6 30 8.12818e-05 8.70909e-05 0.001984 1 0 CGREF1 10669 broad.mit.edu 37 2 27322662 27322662 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:27322662G>T uc010ylf.1 - 7 961 c.329C>A c.(328-330)CCG>CAG p.P110Q KHK_uc002ril.2_3'UTR|KHK_uc002rim.2_3'UTR|KHK_uc002rin.2_3'UTR|KHK_uc002rio.2_3'UTR|CGREF1_uc002rip.1_3'UTR Q99674 CGRE1_HUMAN SubName: Full=cDNA FLJ60367, weakly similar to Cell growth regulator with EF hand domain 1; 208 cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress extracellular region calcium ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTACCATTGCGGCTGCATCGC 0.622 NA 10 11 0.00621372 0.00637862 0.006214 1 0 SLC5A6 8884 broad.mit.edu 37 2 27430140 27430140 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:27430140T>A uc002rjd.2 - 3 770 c.379A>T c.(379-381)ACC>TCC p.T127S SLC5A6_uc010eyv.1_Missense_Mutation_p.T127S|SLC5A6_uc002rje.1_Missense_Mutation_p.T127S NM_021095 NP_066918 Q9Y289 SC5A6_HUMAN solute carrier family 5 (sodium-dependent 127 biotin metabolic process|pantothenate metabolic process integral to plasma membrane|membrane fraction sodium-dependent multivitamin transmembrane transporter activity ovary(2) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Biotin(DB00121)|Lipoic Acid(DB00166) TAGGCACTGGTGAGATGCAGG 0.577 NA 15 35 0 0 0.003163 0 0 IFT172 26160 broad.mit.edu 37 2 27699522 27699522 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:27699522T>C uc002rku.2 - 14 1448 c.1397A>G c.(1396-1398)AAG>AGG p.K466R IFT172_uc002rkw.2_Missense_Mutation_p.K466R|IFT172_uc010yls.1_Missense_Mutation_p.K445R|IFT172_uc010ezc.2_Missense_Mutation_p.K466R|IFT172_uc002rkv.2_Missense_Mutation_p.K440R NM_015662 NP_056477 Q9UG01 IF172_HUMAN selective LIM binding factor homolog 466 cilium assembly cilium binding large_intestine(1)|ovary(1) 2 Acute lymphoblastic leukemia(172;0.155) AGCAATAGTCTTAATATCAAT 0.348 NA 24 52 0 0 0.005443 0 0 ALK 238 broad.mit.edu 37 2 29443605 29443605 + Silent SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:29443605G>C uc002rmy.2 - 23 4519 c.3612C>G c.(3610-3612)CTC>CTG p.L1204L ALK_uc010ymo.1_Silent_p.L136L NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 1204 Protein kinase.|Cytoplasmic (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) GGAAGGACTTGAGGTCTCCCC 0.587 NA T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 11 17 0 0 0.001368 0 0 ALK 238 broad.mit.edu 37 2 29474108 29474108 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:29474108C>A uc002rmy.2 - 12 2974 c.2067G>T c.(2065-2067)GGG>GGT p.G689G NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 689 Extracellular (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) GCCCGCTGGCCCCACATGTGG 0.657 NA T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 15 21 6.31663e-08 7.33275e-08 0.003163 1 0 NLRC4 58484 broad.mit.edu 37 2 32474721 32474722 + Missense_Mutation DNP GG GG TT TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:32474721_32474722GG>TT uc002roi.2 - 4 2457_2458 c.2211_2212CC>AA c.(2209-2214)AACCTG>AAAATG p.737_738NL>KM NLRC4_uc002roj.1_Missense_Mutation_p.737_738NL>KM|NLRC4_uc010ezt.1_Intron NM_021209 NP_067032 Q9NPP4 NLRC4_HUMAN caspase recruitment domain protein 12 737_738 LRR 5. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity ovary(3)|large_intestine(1)|lung(1)|skin(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) AAGGTTTTCAGGTTTGTTACAG 0.396 NA 60 117 0 0 0.004672 0 0 LTBP1 4052 broad.mit.edu 37 2 33246008 33246008 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:33246008A>T uc002ros.2 + 3 598 c.598A>T c.(598-600)ATG>TTG p.M200L NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 200 EGF-like 1. negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GAATGGAGGGATGTGTCTCCG 0.493 NA 76 206 0 0 0.00361 0 0 SULT6B1 391365 broad.mit.edu 37 2 37406604 37406604 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:37406604G>T uc002rpu.2 - 4 433 c.412C>A c.(412-414)CAA>AAA p.Q138K SULT6B1_uc010yni.1_RNA NM_001032377 NP_001027549 Q6IMI4 ST6B1_HUMAN sulfotransferase family, cytosolic, 6B, member 176 cytoplasm sulfotransferase activity ovary(1)|breast(1)|central_nervous_system(1) 3 all_hematologic(82;0.248) GCCATACCTTGTCCTTTCATG 0.373 NA 32 38 4.3181e-19 6.26967e-19 0.002836 1 0 Unknown 0 broad.mit.edu 37 2 38709678 38709678 + Silent SNP C C T rs148735877 by1000genomes TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:38709678C>T uc002rqu.1 + 2 568 c.501C>T c.(499-501)GAC>GAT p.D167D SubName: Full=RPLP0 protein; NA TGTCTGCAGACTGGCTACCCA 0.512 NA 4 47 0 0 0.000602 0 0 ABCG8 64241 broad.mit.edu 37 2 44100976 44100976 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:44100976G>C uc002rtq.2 + 9 1352 c.1262G>C c.(1261-1263)GGG>GCG p.G421A ABCG8_uc010yoa.1_Missense_Mutation_p.G420A NM_022437 NP_071882 Q9H221 ABCG8_HUMAN ATP-binding cassette sub-family G member 8 421 Helical; Name=1; (Potential).|ABC transmembrane type-2. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity skin(3)|ovary(1) 4 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CTCATCCATGGGGCGGAGGCC 0.502 NA 89 117 0 0 0.00361 0 0 PPM1B 5495 broad.mit.edu 37 2 44457644 44457644 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:44457644A>T uc002rtt.2 + 6 1655 c.1227A>T c.(1225-1227)CAA>CAT p.Q409H PPM1B_uc002rtu.2_3'UTR|PPM1B_uc002rtv.2_Missense_Mutation_p.Q122H|PPM1B_uc002rtw.2_Intron|PPM1B_uc002rtx.2_Intron NM_002706 NP_002697 O75688 PPM1B_HUMAN protein phosphatase 1B isoform 1 409 protein dephosphorylation protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity kidney(1)|skin(1) 2 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) ACTACCGACAACTTCTGGAGG 0.468 NA 38 36 0 0 0.003755 0 0 SIX3 6496 broad.mit.edu 37 2 45169558 45169558 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:45169558C>G uc002run.1 + 1 522 c.315C>G c.(313-315)ATC>ATG p.I105M NM_005413 NP_005404 O95343 SIX3_HUMAN SIX homeobox 3 105 I -> V (in HPE2). visual perception nucleus 0 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CGGGCGACATCGAGCGGCTGG 0.697 NA 24 8 0 0 0.00333 0 0 FSHR 2492 broad.mit.edu 37 2 49190604 49190604 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:49190604G>T uc002rww.2 - 10 1430 c.1356C>A c.(1354-1356)GCC>GCA p.A452A FSHR_uc002rwx.2_Silent_p.A390A|FSHR_uc010fbn.2_Silent_p.A426A NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 452 Helical; Name=3; (Potential). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) ACAGCTCACTGGCAAAGACAG 0.507 NA Gonadal_Dysgenesis_46_XX 12 35 0.00010058 0.000107352 0.001368 1 0 FSHR 2492 broad.mit.edu 37 2 49381474 49381474 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:49381474C>A uc002rww.2 - 1 157 c.83G>T c.(82-84)AGG>ATG p.R28M FSHR_uc002rwx.2_Missense_Mutation_p.R28M|FSHR_uc010fbn.2_Missense_Mutation_p.R28M|FSHR_uc010fbo.1_RNA NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 28 LRRNT.|Extracellular (Potential). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) GAGAAAAACCCTGTTAGAGCA 0.512 NA Gonadal_Dysgenesis_46_XX 19 24 1.33834e-09 1.60767e-09 0.007413 1 0 NRXN1 9378 broad.mit.edu 37 2 50170875 50170875 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:50170875T>A uc010fbp.2 - 5 1795 c.988A>T c.(988-990)ATT>TTT p.I330F NRXN1_uc002rxb.3_Missense_Mutation_p.I1067F|NRXN1_uc010fbq.2_Missense_Mutation_p.I1435F|NRXN1_uc002rxe.3_Missense_Mutation_p.I1365F|NRXN1_uc010yon.1_Missense_Mutation_p.I30F|NRXN1_uc002rxa.3_Missense_Mutation_p.I30F NM_138735 NP_620072 P58400 NRX1B_HUMAN neurexin 1 isoform beta precursor 330 Extracellular (Potential). angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CAGGGGTCAATGTCCTCATCA 0.423 NA 8 7 0 0 0.008291 0 0 NRXN1 9378 broad.mit.edu 37 2 50318579 50318579 + Silent SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:50318579A>G uc010fbp.2 - 3 1302 c.495T>C c.(493-495)ATT>ATC p.I165I NRXN1_uc002rxb.3_Silent_p.I872I|NRXN1_uc010fbq.2_Silent_p.I1240I|NRXN1_uc002rxe.3_Silent_p.I1200I NM_138735 NP_620072 P58400 NRX1B_HUMAN neurexin 1 isoform beta precursor 165 Extracellular (Potential).|Laminin G-like. angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TGGATTCTTCAATGGCGATGT 0.438 NA 50 55 0 0 0.00361 0 0 NRXN1 9378 broad.mit.edu 37 2 50318602 50318602 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:50318602C>A uc010fbp.2 - 3 1279 c.472G>T c.(472-474)GTT>TTT p.V158F NRXN1_uc002rxb.3_Missense_Mutation_p.V865F|NRXN1_uc010fbq.2_Missense_Mutation_p.V1233F|NRXN1_uc002rxe.3_Missense_Mutation_p.V1193F NM_138735 NP_620072 P58400 NRX1B_HUMAN neurexin 1 isoform beta precursor 158 Extracellular (Potential).|Laminin G-like. V -> I (in Ref. 1; AF064842). angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TCTGTCCCAACATTAAACTTA 0.388 NA 25 62 7.92952e-12 9.99719e-12 0.003954 1 0 NRXN1 9378 broad.mit.edu 37 2 50779845 50779845 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:50779845C>A uc010fbq.2 - 9 3236 c.1759G>T c.(1759-1761)GAT>TAT p.D587Y NRXN1_uc002rxb.3_Missense_Mutation_p.D219Y|NRXN1_uc002rxe.3_Missense_Mutation_p.D547Y|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) AGGTGGCCATCTAGCATCTCA 0.438 NA 63 41 1.53716e-24 2.4209e-24 0.00361 1 0 NRXN1 9378 broad.mit.edu 37 2 50850543 50850543 + Nonsense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:50850543G>C uc010fbq.2 - 6 2619 c.1142C>G c.(1141-1143)TCA>TGA p.S381* NRXN1_uc002rxb.3_Nonsense_Mutation_p.S28*|NRXN1_uc002rxe.3_Nonsense_Mutation_p.S348*|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) AAAGGCCCCTGATCCCAAATT 0.463 NA 5 106 0 0 0.000602 0 0 NRXN1 9378 broad.mit.edu 37 2 51254659 51254659 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:51254659G>T uc010fbq.2 - 2 2230 c.753C>A c.(751-753)CGC>CGA p.R251R NRXN1_uc002rxe.3_Silent_p.R251R|NRXN1_uc002rxd.1_Silent_p.R251R NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:Variant_position_missing_in_P58400_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) AGTCCTTGCCGCGGAAGCCGG 0.746 NA 16 17 2.39187e-15 3.23488e-15 0.008871 1 0 PNPT1 87178 broad.mit.edu 37 2 55921012 55921012 + Splice_Site SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:55921012A>T uc002rzf.2 - 1 1 c.-52_splice c.e1-1 PNPT1_uc002rzg.2_Splice_Site NM_033109 NP_149100 Q8TCS8 PNPT1_HUMAN polyribonucleotide nucleotidyltransferase 1 mRNA catabolic process|RNA processing plasma membrane 3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding 0 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) CACTCCGCAGACCGTGGGGCG 0.662 NA 10 7 0 0 0.006214 0 0 KIAA1841 84542 broad.mit.edu 37 2 61333783 61333783 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:61333783G>T uc002saw.3 + 14 1900 c.1597G>T c.(1597-1599)GGG>TGG p.G533W KIAA1841_uc002sax.3_Missense_Mutation_p.G387W|KIAA1841_uc002say.2_Missense_Mutation_p.G533W NM_001129993 NP_001123465 Q6NSI8 K1841_HUMAN KIAA1841 protein isoform a 533 0 Epithelial(17;0.193) TCCCAAAACTGGGGAGCTCAA 0.358 NA 37 50 9.45814e-24 1.47517e-23 0.004878 1 0 ZNF638 27332 broad.mit.edu 37 2 71576910 71576910 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:71576910G>T uc002shx.2 + 2 1145 c.826G>T c.(826-828)GGT>TGT p.G276C ZNF638_uc010fec.2_Missense_Mutation_p.G382C|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.2_Missense_Mutation_p.G276C|ZNF638_uc002shy.2_Missense_Mutation_p.G276C|ZNF638_uc002shz.2_Missense_Mutation_p.G276C|ZNF638_uc002sia.2_Missense_Mutation_p.G276C|ZNF638_uc002sib.1_Missense_Mutation_p.G276C NM_014497 NP_055312 Q14966 ZN638_HUMAN zinc finger protein 638 276 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 GGACTTCCCCGGTGAGTCCTC 0.433 NA 44 67 9.39024e-22 1.42773e-21 0.009718 1 0 ALMS1 7840 broad.mit.edu 37 2 73826635 73826635 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:73826635G>T uc002sje.1 + 19 11769 c.11658G>T c.(11656-11658)AAG>AAT p.K3886N ALMS1_uc002sjf.1_Missense_Mutation_p.K3842N|ALMS1_uc002sjh.1_Missense_Mutation_p.K3272N NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 3884 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 TGTTAAACAAGGGCATACAAG 0.254 NA 18 70 1.99824e-07 2.29081e-07 0.00499 1 0 C2orf78 388960 broad.mit.edu 37 2 74043870 74043870 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:74043870G>A uc002sjr.1 + 3 2641 c.2520G>A c.(2518-2520)AAG>AAA p.K840K NM_001080474 NP_001073943 A6NCI8 CB078_HUMAN hypothetical protein LOC388960 840 ovary(2) 2 CACTGCCCAAGCCTCAAAATC 0.517 NA 33 44 0 0 0.003755 0 0 RTKN 6242 broad.mit.edu 37 2 74654377 74654377 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:74654377C>T uc002sle.2 - 11 1396 c.1279G>A c.(1279-1281)GAA>AAA p.E427K RTKN_uc002slc.2_Missense_Mutation_p.E414K|RTKN_uc002sld.2_Missense_Mutation_p.E377K NM_001015055 NP_001015055 Q9BST9 RTKN_HUMAN rhotekin isoform a 427 apoptosis|regulation of anti-apoptosis|Rho protein signal transduction intracellular GTP binding|GTP-Rho binding|GTPase inhibitor activity skin(1) 1 TTCATGATTTCATCACAGCAC 0.493 NA 22 39 0 0 0.010504 0 0 DOK1 1796 broad.mit.edu 37 2 74784174 74784174 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:74784174G>T uc002sms.2 + 5 1401 c.1379G>T c.(1378-1380)AGC>ATC p.S460I DOK1_uc002smr.2_Missense_Mutation_p.S321I|DOK1_uc010ffo.2_Missense_Mutation_p.S321I|DOK1_uc002smt.2_Missense_Mutation_p.S246I|DOK1_uc002smu.2_Missense_Mutation_p.S246I|DOK1_uc010yrz.1_Missense_Mutation_p.S449I|DOK1_uc002smv.2_Missense_Mutation_p.S321I|DOK1_uc002smw.1_Missense_Mutation_p.S246I NM_001381 NP_001372 Q99704 DOK1_HUMAN docking protein 1 460 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol|perinuclear region of cytoplasm insulin receptor binding 0 GCCTCAGGGAGCTGGGACTGT 0.602 Esophageal Squamous(36;520 860 12502 33616 51270) NA 23 31 4.4004e-07 4.97101e-07 0.00333 1 0 LRRTM4 80059 broad.mit.edu 37 2 77746229 77746229 + Missense_Mutation SNP G G T rs144196554 by1000genomes TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:77746229G>T uc002snr.2 - 3 1181 c.766C>A c.(766-768)CAC>AAC p.H256N LRRTM4_uc002snq.2_Missense_Mutation_p.H256N|LRRTM4_uc002sns.2_Missense_Mutation_p.H256N|LRRTM4_uc002snt.2_Missense_Mutation_p.H257N NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 256 LRR 9.|Extracellular (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) TCCAAGTTGTGTAAGGAACTC 0.418 NA 6 14 5.9392e-07 6.68982e-07 0.001168 1 0 REG3G 130120 broad.mit.edu 37 2 79253911 79253911 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:79253911C>A uc002snw.2 + 3 234 c.149C>A c.(148-150)CCC>CAC p.P50H REG3G_uc002snx.2_Missense_Mutation_p.P50H|REG3G_uc010ffu.2_Missense_Mutation_p.P50H NM_198448 NP_940850 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma precursor 50 C-type lectin. acute-phase response extracellular region sugar binding 0 TATGGCTCCCCCTGCTATGCC 0.527 NA 14 25 9.31168e-06 1.02091e-05 0.001855 1 0 REG1A 5967 broad.mit.edu 37 2 79348029 79348029 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:79348029G>T uc002snz.2 + 2 145 c.42G>T c.(40-42)CTG>CTT p.L14L REG1A_uc010ffx.1_Silent_p.L14L|REG1A_uc010ysd.1_Silent_p.L14L NM_002909 NP_002900 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha precursor 14 positive regulation of cell proliferation extracellular region growth factor activity|sugar binding 0 TCTCCTGCCTGATGTTTCTGT 0.458 NA 21 23 1.66031e-10 2.03616e-10 0.003954 1 0 REG3A 5068 broad.mit.edu 37 2 79384806 79384806 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:79384806C>T uc002sod.1 - 4 607 c.352G>A c.(352-354)GAA>AAA p.E118K REG3A_uc002soe.1_Missense_Mutation_p.E118K|REG3A_uc002sof.1_Missense_Mutation_p.E118K NM_138938 NP_620355 Q06141 REG3A_HUMAN pancreatitis-associated protein precursor 118 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding skin(1) 1 TCCCAACCTTCTCCATTGGGC 0.552 NA 24 40 0 0 0.00278 0 0 CTNNA2 1496 broad.mit.edu 37 2 79971607 79971607 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:79971607A>T uc010ysh.1 + 2 202 c.197A>T c.(196-198)CAA>CTA p.Q66L CTNNA2_uc010yse.1_Missense_Mutation_p.Q66L|CTNNA2_uc010ysf.1_Missense_Mutation_p.Q66L|CTNNA2_uc010ysg.1_Missense_Mutation_p.Q66L NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 66 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 TCTGTAGAGCAAGCCACTCAG 0.458 NA 7 17 0 0 0.00308 0 0 GNLY 10578 broad.mit.edu 37 2 85923143 85923143 + Silent SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:85923143C>G uc002sql.3 + 3 347 c.219C>G c.(217-219)GTC>GTG p.V73V GNLY_uc010fgp.2_Silent_p.V58V|GNLY_uc010ysx.1_Silent_p.V100V NM_006433 NP_006424 P22749 GNLY_HUMAN granulysin isoform NKG5 73 Saposin B-type. cellular defense response|defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space 0 TGACGATAGTCCAAAAACTGA 0.552 NA 14 20 0 0 0.00245 0 0 ASTL 431705 broad.mit.edu 37 2 96798378 96798378 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:96798378C>A uc010yui.1 - 6 538 c.538G>T c.(538-540)GTC>TTC p.V180F NM_001002036 NP_001002036 Q6HA08 ASTL_HUMAN astacin-like metalloendopeptidase precursor 180 proteolysis metalloendopeptidase activity|zinc ion binding 0 TCATGAAGGACAATGCCCCGG 0.637 NA 49 72 9.55421e-19 1.37791e-18 0.00361 1 0 TMEM131 23505 broad.mit.edu 37 2 98392311 98392311 + Missense_Mutation SNP T T G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:98392311T>G uc002syh.3 - 32 4544 c.4315A>C c.(4315-4317)AAG>CAG p.K1439Q NM_015348 NP_056163 Q92545 TM131_HUMAN RW1 protein 1439 Lys-rich. integral to membrane ovary(4)|central_nervous_system(2) 6 CGTACCTCCTTGAGGAGCGGT 0.512 NA 15 19 0 0 0.004007 0 0 C2orf55 343990 broad.mit.edu 37 2 99443583 99443583 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:99443583C>T uc002szf.1 - 6 884 c.590G>A c.(589-591)CGG>CAG p.R197Q NM_207362 NP_997245 Q6NV74 CB055_HUMAN hypothetical protein LOC343990 197 0 GTCTGAGATCCGGGCAGAGAC 0.557 NA 19 48 0 0 0.002299 0 0 RNF149 284996 broad.mit.edu 37 2 101924612 101924613 + Missense_Mutation DNP TG TG AT TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:101924612_101924613TG>AT uc002taz.1 - 1 540_541 c.438_439CA>AT c.(436-441)ATCACC>ATATCC p.T147S RNF149_uc002tax.1_RNA NM_173647 NP_775918 Q8NC42 RN149_HUMAN ring finger protein 149 precursor 147 PA. integral to membrane ligase activity|zinc ion binding ovary(1)|breast(1) 2 ATGGGCAAGGTGATGTTCCCGT 0.683 Colon(25;331 612 6521 7355 31028) NA 19 47 0 0 0.004672 0 0 IL18RAP 8807 broad.mit.edu 37 2 103068359 103068359 + Silent SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:103068359A>G uc002tbx.2 + 12 2002 c.1518A>G c.(1516-1518)ACA>ACG p.T506T IL18RAP_uc010fiz.2_Silent_p.T364T NM_003853 NP_003844 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 506 TIR.|Cytoplasmic (Potential). cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity skin(3)|ovary(2) 5 ATGATCAAACACTGAAACTCA 0.413 NA 13 72 0 0 0.001368 0 0 RGPD3 653489 broad.mit.edu 37 2 107040512 107040512 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:107040512T>A uc010ywi.1 - 20 3968 c.3911A>T c.(3910-3912)AAG>ATG p.K1304M NM_001144013 NP_001137485 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1304 intracellular transport binding ovary(1) 1 GGCAGGAGACTTAGATAGACT 0.403 NA 54 265 0 0 0.00361 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107446683 107446683 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:107446683G>T uc002tdq.2 - 5 1276 c.1157C>A c.(1156-1158)CCG>CAG p.P386Q ST6GAL2_uc002tdr.2_Missense_Mutation_p.P386Q|ST6GAL2_uc002tds.3_Missense_Mutation_p.P386Q NM_001142351 NP_001135823 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide 386 Lumenal (Potential). growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity pancreas(6)|ovary(4)|skin(1) 11 GTTGTAATCCGGTTTTTTGTA 0.393 NA 10 42 1.08611e-07 1.2533e-07 0.000978 1 0 RGPD4 285190 broad.mit.edu 37 2 108487786 108487786 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:108487786G>C uc010ywk.1 + 20 3408 c.3326G>C c.(3325-3327)TGT>TCT p.C1109S RGPD4_uc002tdu.2_Missense_Mutation_p.C296S|RGPD4_uc010ywl.1_RNA NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1109 RanBD1 1. intracellular transport binding skin(2) 2 CTAAAAGTGTGTGCTAATCAT 0.443 NA 214 100 0 0 0.00361 0 0 SH3RF3 344558 broad.mit.edu 37 2 110053474 110053474 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:110053474G>T uc010ywt.1 + 7 1700 c.1700G>T c.(1699-1701)AGG>ATG p.R567M NM_001099289 NP_001092759 Q8TEJ3 SH3R3_HUMAN SH3 domain containing ring finger 3 567 zinc ion binding ovary(1) 1 ACTGCCACCAGGCCCGCCCTG 0.667 NA 22 64 7.41877e-09 8.79241e-09 0.001882 1 0 IL1F9 56300 broad.mit.edu 37 2 113742625 113742625 + Nonstop_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:113742625G>T uc002tio.1 + 5 578 c.509G>T c.(508-510)TGA>TTA p.*170L IL1F9_uc010fkr.1_Nonstop_Mutation_p.*135L NM_019618 NP_062564 Q9NZH8 IL36G_HUMAN interleukin 1 family, member 9 170 cell-cell signaling extracellular space cytokine activity|interleukin-1 receptor antagonist activity 0 ATAAATGACTGAACTCAGCCT 0.294 Esophageal Squamous(44;715 981 6239 42838 46707) NA 16 16 2.31682e-05 2.52152e-05 0.003163 1 0 GPR17 2840 broad.mit.edu 37 2 128408340 128408340 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:128408340C>A uc010yzn.1 + 4 726 c.115C>A c.(115-117)CTG>ATG p.L39M LIMS2_uc002tow.2_5'Flank|LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Missense_Mutation_p.L39M|GPR17_uc010yzo.1_Missense_Mutation_p.L11M|GPR17_uc002tpd.2_Missense_Mutation_p.L11M NM_001161415 NP_001154887 Q13304 GPR17_HUMAN G protein-coupled receptor 17 isoform a 39 Extracellular (Potential). integral to plasma membrane chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled 0 Colorectal(110;0.1) Ovarian(717;0.15) BRCA - Breast invasive adenocarcinoma(221;0.0677) tcccccaggtctgatcaccaa 0.104 NA OREG0014966 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 95 2.81731e-10 3.442e-10 0.002096 1 0 HS6ST1 9394 broad.mit.edu 37 2 129025948 129025948 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:129025948C>A uc002tpt.3 - 2 1058 c.1024G>T c.(1024-1026)GAC>TAC p.D342Y NM_004807 NP_004798 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 342 Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity pancreas(1) 1 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) ATGTCCAGGTCGTTGAGCTCC 0.627 NA 20 55 1.56452e-12 1.99722e-12 0.007413 1 0 POTEE 445582 broad.mit.edu 37 2 131976074 131976074 + Silent SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:131976074C>G uc002tsn.2 + 1 151 c.99C>G c.(97-99)CCC>CCG p.P33P PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN protein expressed in prostate, ovary, testis, 33 ATP binding 0 GTTGCTTCCCCTGCTACAGGG 0.567 NA 193 129 0 0 0.00361 0 0 LYPD1 116372 broad.mit.edu 37 2 133426004 133426004 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:133426004C>A uc002ttn.2 - 2 1135 c.159G>T c.(157-159)ATG>ATT p.M53I LYPD1_uc002ttm.3_Missense_Mutation_p.M69I|LYPD1_uc002tto.2_Missense_Mutation_p.M1I NM_144586 NP_653187 Q8N2G4 LYPD1_HUMAN LY6/PLAUR domain containing 1 isoform a 53 UPAR/Ly6. anchored to membrane|plasma membrane 0 CTTTCTGACACATGTCTTGAA 0.552 NA 18 54 5.35267e-07 6.03971e-07 0.007413 1 0 NCKAP5 344148 broad.mit.edu 37 2 133540099 133540099 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:133540099C>A uc002ttp.2 - 14 4659 c.4285G>T c.(4285-4287)GGG>TGG p.G1429W NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1429 protein binding 0 TGAGTCCTCCCTGGGCTCTGC 0.577 NA 31 25 2.08457e-15 2.82124e-15 0.002096 1 0 NCKAP5 344148 broad.mit.edu 37 2 133543015 133543015 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:133543015G>T uc002ttp.2 - 14 1743 c.1369C>A c.(1369-1371)CTG>ATG p.L457M NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 457 protein binding 0 GGGCTCCCCAGGTCAGCTGTT 0.473 NA 40 24 2.19358e-23 3.39391e-23 0.005524 1 0 R3HDM1 23518 broad.mit.edu 37 2 136467772 136467772 + Nonsense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:136467772G>T uc002tuo.2 + 22 2972 c.2602G>T c.(2602-2604)GAA>TAA p.E868* R3HDM1_uc010fni.2_Nonsense_Mutation_p.E867*|R3HDM1_uc002tup.2_Nonsense_Mutation_p.E813*|R3HDM1_uc010zbh.1_Nonsense_Mutation_p.E616* NM_015361 NP_056176 Q15032 R3HD1_HUMAN R3H domain containing 1 868 nucleic acid binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.127) GAAGTGTGTAGAATTTAGCAG 0.383 NA OREG0014997 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 42 4.3838e-07 4.96386e-07 0.001855 1 0 LCT 3938 broad.mit.edu 37 2 136594312 136594312 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:136594312C>A uc002tuu.1 - 1 439 c.428G>T c.(427-429)AGA>ATA p.R143I NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 143 Extracellular (Potential).|4 X approximate repeats.|1. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) GGCTTCGGTTCTCCGGAGGGT 0.602 NA 8 35 3.09899e-07 3.5297e-07 0.004482 1 0 THSD7B 80731 broad.mit.edu 37 2 137917812 137917812 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:137917812G>T uc002tva.1 + 5 1306 c.1306G>T c.(1306-1308)GTG>TTG p.V436L THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.V326L NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) GGCATTATGTGTGGGACCCGC 0.498 NA 25 56 1.5548e-18 2.2307e-18 0.005443 1 0 LRP1B 53353 broad.mit.edu 37 2 141027836 141027836 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:141027836G>T uc002tvj.1 - 86 14194 c.13222C>A c.(13222-13224)CCC>ACC p.P4408T NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4408 Extracellular (Potential).|EGF-like 14. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTTGTCTCGGGGTCCAGCTGG 0.403 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 30 36 3.67414e-24 5.75834e-24 0.002445 1 0 LRP1B 53353 broad.mit.edu 37 2 141128289 141128289 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:141128289G>T uc002tvj.1 - 71 11970 c.10998C>A c.(10996-10998)AAC>AAA p.N3666K NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3666 Extracellular (Potential).|LDL-receptor class A 29. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CTCTTTCACAGTTCTCTTCAT 0.413 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 45 107 1.81118e-26 2.91902e-26 0.00361 1 0 LRP1B 53353 broad.mit.edu 37 2 141473552 141473552 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:141473552G>T uc002tvj.1 - 37 6985 c.6013C>A c.(6013-6015)CCA>ACA p.P2005T NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2005 Extracellular (Potential).|LDL-receptor class B 20. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CCTTTCTCTGGGTGCACAGCT 0.328 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 17 39 5.3912e-06 5.93431e-06 0.006122 1 0 LRP1B 53353 broad.mit.edu 37 2 141526841 141526841 + Missense_Mutation SNP A A C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:141526841A>C uc002tvj.1 - 35 6671 c.5699T>G c.(5698-5700)ATG>AGG p.M1900R NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1900 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CAAAGCATCCATTTTGTCACT 0.383 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 24 22 0 0 0.003954 0 0 KYNU 8942 broad.mit.edu 37 2 143715246 143715246 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:143715246A>T uc002tvl.2 + 7 674 c.544A>T c.(544-546)AAC>TAC p.N182Y KYNU_uc002tvk.2_Missense_Mutation_p.N182Y|KYNU_uc010fnm.2_Missense_Mutation_p.N182Y NM_003937 NP_003928 Q16719 KYNU_HUMAN kynureninase (L-kynurenine hydrolase) isoform a 182 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity skin(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) TCACGGACTTAACATTGAAGA 0.313 NA 8 22 0 0 0.004482 0 0 KYNU 8942 broad.mit.edu 37 2 143798057 143798057 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:143798057C>G uc002tvl.2 + 13 1232 c.1102C>G c.(1102-1104)CTG>GTG p.L368V KYNU_uc010fnm.2_Missense_Mutation_p.L368V NM_003937 NP_003928 Q16719 KYNU_HUMAN kynureninase (L-kynurenine hydrolase) isoform a 368 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity skin(2) 2 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) AACTGGCTATCTGGAATACCT 0.403 NA 28 22 0 0 0.007291 0 0 ZEB2 9839 broad.mit.edu 37 2 145157187 145157187 + Nonsense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:145157187T>A uc002tvu.2 - 8 2047 c.1567A>T c.(1567-1569)AAA>TAA p.K523* ZEB2_uc002tvv.2_Nonsense_Mutation_p.K517*|ZEB2_uc010zbm.1_Nonsense_Mutation_p.K494*|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Nonsense_Mutation_p.K552* NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 523 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) ATAATACTTTTAGTGGCACCA 0.423 Melanoma(33;1235 1264 5755 16332) NA 19 57 0 0 0.006122 0 0 ZEB2 9839 broad.mit.edu 37 2 145274875 145274875 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:145274875G>T uc002tvu.2 - 2 523 c.43C>A c.(43-45)CGC>AGC p.R15S ZEB2_uc002tvv.2_Missense_Mutation_p.R10S|ZEB2_uc010zbm.1_Missense_Mutation_p.R10S|ZEB2_uc010fnp.2_Missense_Mutation_p.R10S|ZEB2_uc010fnq.1_Missense_Mutation_p.R44S|ZEB2_uc002tvw.2_Missense_Mutation_p.R10S|ZEB2_uc002tvx.1_RNA|ZEB2_uc002tvy.2_Missense_Mutation_p.R44S|ZEB2_uc002tvz.2_RNA|ZEB2_uc002twa.2_RNA NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 15 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) GCTTGTTTGCGCCTCTTGCAC 0.602 Melanoma(33;1235 1264 5755 16332) NA 53 46 1.0442e-30 1.74695e-30 0.00361 1 0 MBD5 55777 broad.mit.edu 37 2 149247151 149247152 + Missense_Mutation DNP CC CC TT TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:149247151_149247152CC>TT uc002twm.3 + 12 4239_4240 c.3251_3252CC>TT c.(3250-3252)TCC>TTT p.S1084F MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Missense_Mutation_p.S1084F|MBD5_uc002two.2_Missense_Mutation_p.S342F|MBD5_uc002twp.2_Missense_Mutation_p.S134F NM_018328 NP_060798 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 1084 chromosome|nucleus chromatin binding|DNA binding skin(3)|ovary(2) 5 BRCA - Breast invasive adenocarcinoma(221;0.0569) GGTGATGCTTCCGTAGATGCCA 0.505 NA 43 80 0 0 0.004672 0 0 BAZ2B 29994 broad.mit.edu 37 2 160294873 160294873 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:160294873C>A uc002uao.2 - 8 1586 c.1234G>T c.(1234-1236)GGG>TGG p.G412W BAZ2B_uc002uap.2_Missense_Mutation_p.G410W|BAZ2B_uc002uas.1_Missense_Mutation_p.G349W|BAZ2B_uc002uau.1_Missense_Mutation_p.G410W|BAZ2B_uc002uaq.1_Missense_Mutation_p.G340W|BAZ2B_uc002uat.3_3'UTR|BAZ2B_uc010fop.1_Missense_Mutation_p.G410W NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 412 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 TTTTTATTCCCTGCTTTAAGA 0.338 NA 19 25 1.33834e-09 1.60767e-09 0.007413 1 0 CSRNP3 80034 broad.mit.edu 37 2 166451578 166451578 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:166451578G>T uc002udf.2 + 4 379 c.3G>T c.(1-3)ATG>ATT p.M1I CSRNP3_uc002udg.2_Missense_Mutation_p.M1I NM_024969 NP_079245 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 1 apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|large_intestine(1)|skin(1) 5 CTGCAGCGATGAGTGGAATTT 0.473 NA 14 26 1.05317e-09 1.26985e-09 0.00245 1 0 SCN1A 6323 broad.mit.edu 37 2 166894413 166894413 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:166894413G>T uc010zcz.1 - 15 2804 c.2786C>A c.(2785-2787)TCC>TAC p.S929Y SCN1A_uc002udo.3_Missense_Mutation_p.S809Y|SCN1A_uc010fpk.2_Missense_Mutation_p.S781Y NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 940 II. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) AATCAGGAAGGAGTGGAAGAA 0.507 NA 37 107 1.30998e-17 1.84928e-17 0.005524 1 0 XIRP2 129446 broad.mit.edu 37 2 168099742 168099742 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:168099742G>C uc002udx.2 + 8 1858 c.1840G>C c.(1840-1842)GTG>CTG p.V614L XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.V439L|XIRP2_uc010fpq.2_Missense_Mutation_p.V392L|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 439 Xin 3. actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TGGTGGTGATGTGAAATATAC 0.428 NA 17 35 0 0 0.006122 0 0 XIRP2 129446 broad.mit.edu 37 2 168101926 168101926 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:168101926G>T uc002udx.2 + 8 4042 c.4024G>T c.(4024-4026)GTA>TTA p.V1342L XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.V1167L|XIRP2_uc010fpq.2_Missense_Mutation_p.V1120L|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1167 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AAAAGAAGAGGTAATTCATGG 0.378 NA 7 17 5.18039e-06 5.70876e-06 0.00308 1 0 XIRP2 129446 broad.mit.edu 37 2 168102750 168102750 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:168102750G>T uc002udx.2 + 8 4866 c.4848G>T c.(4846-4848)AGG>AGT p.R1616S XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.R1441S|XIRP2_uc010fpq.2_Missense_Mutation_p.R1394S|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1441 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TTTCCAAAAGGGACTGTACTG 0.338 NA 15 12 1.52009e-12 1.94564e-12 0.003163 1 0 XIRP2 129446 broad.mit.edu 37 2 168107960 168107960 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:168107960G>T uc002udx.2 + 8 10076 c.10058G>T c.(10057-10059)AGA>ATA p.R3353I XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.R3178I|XIRP2_uc010fpq.2_Missense_Mutation_p.R3131I|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 3178 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TCAAATAGAAGAGTTTATGCA 0.358 NA 16 59 2.32078e-09 2.78437e-09 0.003163 1 0 C2orf77 129881 broad.mit.edu 37 2 170518868 170518868 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:170518868A>T uc002ufe.2 - 5 835 c.741T>A c.(739-741)AAT>AAA p.N247K NM_001085447 NP_001078916 Q0VFZ6 CB077_HUMAN hypothetical protein LOC129881 247 Potential. 0 CATATAATGCATTCTGTCGCT 0.313 NA 34 55 0 0 0.002096 0 0 UBR3 130507 broad.mit.edu 37 2 170917604 170917604 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:170917604G>C uc010zdi.1 + 34 4801 c.4801G>C c.(4801-4803)GAA>CAA p.E1601Q UBR3_uc002ufr.3_RNA|UBR3_uc010fqa.2_Missense_Mutation_p.E422Q|UBR3_uc002uft.3_Missense_Mutation_p.E458Q|UBR3_uc010zdj.1_Missense_Mutation_p.E292Q|UBR3_uc002ufu.3_Missense_Mutation_p.E107Q NM_172070 NP_742067 Q6ZT12 UBR3_HUMAN E3 ubiquitin-protein ligase UBR3 1601 sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding 0 ATGTGATGCAGAAAAGTCTTA 0.289 NA 9 21 0 0 0.004482 0 0 MYO3B 140469 broad.mit.edu 37 2 171225814 171225814 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:171225814G>T uc002ufy.2 + 9 1041 c.898G>T c.(898-900)GTT>TTT p.V300F MYO3B_uc002ufv.2_Missense_Mutation_p.V287F|MYO3B_uc010fqb.1_Missense_Mutation_p.V287F|MYO3B_uc002ufz.2_Missense_Mutation_p.V300F|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002uga.2_Missense_Mutation_p.V287F|MYO3B_uc002ugb.2_RNA NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN myosin IIIB isoform 2 300 response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity lung(8)|ovary(6)|skin(4)|central_nervous_system(1) 19 ACATGGAAAAGTTCTGTTTCT 0.418 NA 20 23 5.03518e-11 6.25436e-11 0.007413 1 0 CHN1 1123 broad.mit.edu 37 2 175742768 175742768 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:175742768C>A uc002uji.2 - 6 879 c.349G>T c.(349-351)GTG>TTG p.V117L CHN1_uc010zeq.1_Missense_Mutation_p.V117L|CHN1_uc002ujj.2_Intron NM_001822 NP_001813 P15882 CHIN_HUMAN chimerin (chimaerin) 1 isoform a 117 SH2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.226) CCATCAGTCACCAGATCGTGG 0.438 NA T TAF15 extraskeletal myxoid chondrosarcoma 21 54 7.41877e-09 8.79241e-09 0.001882 1 0 PDE11A 50940 broad.mit.edu 37 2 178705003 178705003 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:178705003T>A uc002ulq.2 - 6 1793 c.1475A>T c.(1474-1476)TAC>TTC p.Y492F PDE11A_uc002ulp.2_Missense_Mutation_p.Y48F|PDE11A_uc002ulr.2_Missense_Mutation_p.Y242F|PDE11A_uc002uls.1_Missense_Mutation_p.Y134F|PDE11A_uc002ult.1_Missense_Mutation_p.Y242F|PDE11A_uc002ulu.1_Missense_Mutation_p.Y134F NM_016953 NP_058649 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A isoform 4 492 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(3)|large_intestine(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) CGGATCCTGGTAGGCATCACT 0.463 NA Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial 18 23 0 0 0.007413 0 0 TTN 7273 broad.mit.edu 37 2 179408974 179408974 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:179408974G>T uc010zfg.1 - 294 88502 c.88278C>A c.(88276-88278)AGC>AGA p.S29426R uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S23121R|TTN_uc010zfi.1_Missense_Mutation_p.S23054R|TTN_uc010zfj.1_Missense_Mutation_p.S22929R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 30353 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CGCTGTATTCGCTCATACCCT 0.413 NA 21 39 2.32416e-17 3.26903e-17 0.002299 1 0 TTN 7273 broad.mit.edu 37 2 179435287 179435287 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:179435287C>A uc010zfg.1 - 275 68092 c.67868G>T c.(67867-67869)GGA>GTA p.G22623V uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G16318V|TTN_uc010zfi.1_Missense_Mutation_p.G16251V|TTN_uc010zfj.1_Missense_Mutation_p.G16126V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 23550 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGATCTTTCTCCTGCAACATT 0.433 NA 8 15 0.00307968 0.00318168 0.00308 1 0 TTN 7273 broad.mit.edu 37 2 179441953 179441953 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:179441953C>A uc010zfg.1 - 273 61629 c.61405G>T c.(61405-61407)GTC>TTC p.V20469F uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V14164F|TTN_uc010zfi.1_Missense_Mutation_p.V14097F|TTN_uc010zfj.1_Missense_Mutation_p.V13972F|uc002umv.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 21396 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACATCAAGGACTGTTACCTTC 0.463 NA 10 19 0.00621372 0.00637862 0.006214 1 0 TTN 7273 broad.mit.edu 37 2 179598577 179598577 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:179598577A>G uc010zfg.1 - 50 12031 c.11807T>C c.(11806-11808)CTA>CCA p.L3936P TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L597P NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 4863 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTGTCCTCCTAGTGCAATCAA 0.418 NA 21 38 0 0 0.008871 0 0 TTN 7273 broad.mit.edu 37 2 179613054 179613054 + Silent SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:179613054A>G uc002unb.2 - 46 14297 c.14073T>C c.(14071-14073)AGT>AGC p.S4691S TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CATCAATACTACTTTTCTCCA 0.308 NA 17 29 0 0 0.004007 0 0 TTN 7273 broad.mit.edu 37 2 179614488 179614488 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:179614488G>A uc002unb.2 - 46 12863 c.12639C>T c.(12637-12639)AGC>AGT p.S4213S TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATAATTGGTGGCTACAATTAA 0.348 NA 10 28 0 0 0.006214 0 0 TTN 7273 broad.mit.edu 37 2 179629317 179629317 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:179629317A>G uc010zfg.1 - 42 10149 c.9925T>C c.(9925-9927)TAT>CAT p.Y3309H TTN_uc010zfh.1_Missense_Mutation_p.Y3263H|TTN_uc010zfi.1_Missense_Mutation_p.Y3263H|TTN_uc010zfj.1_Missense_Mutation_p.Y3263H|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Missense_Mutation_p.Y3309H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 3309 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCACAGGTATAGACTGCCGCA 0.463 NA 49 43 0 0 0.00361 0 0 TTN 7273 broad.mit.edu 37 2 179634420 179634420 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:179634420G>C uc010zfg.1 - 37 9112 c.8888C>G c.(8887-8889)ACC>AGC p.T2963S TTN_uc010zfh.1_Missense_Mutation_p.T2917S|TTN_uc010zfi.1_Missense_Mutation_p.T2917S|TTN_uc010zfj.1_Missense_Mutation_p.T2917S|TTN_uc002unb.2_Missense_Mutation_p.T2963S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2963 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GACTGTCAGGGTGGCACTGAC 0.353 NA 34 33 0 0 0.003755 0 0 TTN 7273 broad.mit.edu 37 2 179634423 179634423 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:179634423G>T uc010zfg.1 - 37 9109 c.8885C>A c.(8884-8886)GCC>GAC p.A2962D TTN_uc010zfh.1_Missense_Mutation_p.A2916D|TTN_uc010zfi.1_Missense_Mutation_p.A2916D|TTN_uc010zfj.1_Missense_Mutation_p.A2916D|TTN_uc002unb.2_Missense_Mutation_p.A2962D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2962 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGTCAGGGTGGCACTGACTTG 0.348 NA 37 33 4.10981e-09 4.90036e-09 0.005524 1 0 TTN 7273 broad.mit.edu 37 2 179659128 179659128 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:179659128G>T uc010zfg.1 - 8 1620 c.1396C>A c.(1396-1398)CAG>AAG p.Q466K TTN_uc010zfh.1_Missense_Mutation_p.Q466K|TTN_uc010zfi.1_Missense_Mutation_p.Q466K|TTN_uc010zfj.1_Missense_Mutation_p.Q466K|TTN_uc002unb.2_Missense_Mutation_p.Q466K|TTN_uc010frg.1_Missense_Mutation_p.Q140K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 466 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCACGTACCTGTTCTTGAGCA 0.562 NA 64 111 3.13296e-38 5.48339e-38 0.00361 1 0 TTN 7273 broad.mit.edu 37 2 179664219 179664219 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:179664219C>A uc002und.2 - 6 1134 c.909G>T c.(907-909)CCG>CCT p.P303P TTN_uc010zfg.1_Silent_p.P303P|TTN_uc010zfh.1_Silent_p.P303P|TTN_uc010zfi.1_Silent_p.P303P|TTN_uc010zfj.1_Silent_p.P303P|TTN_uc002unb.2_Silent_p.P303P Q8WZ42 TITIN_HUMAN Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein. 303 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTACCTGACCGGAGATGGGG 0.438 NA 27 27 1.12875e-08 1.33599e-08 0.00632 1 0 CWC22 57703 broad.mit.edu 37 2 180810056 180810056 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:180810056T>A uc010frh.1 - 20 2827 c.2527A>T c.(2527-2529)AGT>TGT p.S843C CWC22_uc002uno.2_Missense_Mutation_p.S365C|CWC22_uc002unp.2_Missense_Mutation_p.S843C NM_020943 NP_065994 Q9HCG8 CWC22_HUMAN CWC22 spliceosome-associated protein homolog 843 catalytic step 2 spliceosome protein binding|RNA binding 0 AAATTTTCACTGTCTTTAATT 0.343 NA 29 51 0 0 0.00632 0 0 NEUROD1 4760 broad.mit.edu 37 2 182543242 182543242 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:182543242C>G uc002uof.2 - 2 582 c.346G>C c.(346-348)GGA>CGA p.G116R CERKL_uc002uod.1_Intron NM_002500 NP_002491 Q13562 NDF1_HUMAN neurogenic differentiation 1 116 Helix-loop-helix motif. amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.088) GCGTTCAGTCCGTGCATGCGG 0.552 NA 17 32 0 0 0.007413 0 0 PDE1A 5136 broad.mit.edu 37 2 183129066 183129066 + Silent SNP C C T rs146558594 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:183129066C>T uc002uos.2 - 3 261 c.177G>A c.(175-177)GCG>GCA p.A59A PDE1A_uc010zfp.1_5'UTR|PDE1A_uc002uoq.1_Silent_p.A59A|PDE1A_uc010zfq.1_Silent_p.A59A|PDE1A_uc002uor.2_Silent_p.A43A|PDE1A_uc002uov.1_RNA NM_001003683 NP_001003683 P54750 PDE1A_HUMAN phosphodiesterase 1A isoform 2 59 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.061) GCACAGATGCCGCATATTCAA 0.378 NA 15 24 0 0 0.007413 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802586 185802586 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:185802586C>A uc002uph.2 + 4 3057 c.2463C>A c.(2461-2463)CCC>CCA p.P821P NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 821 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 GATTCCACCCCGGATTTGAAA 0.388 NA 11 35 6.40141e-05 6.88944e-05 0.000978 1 0 ZNF804A 91752 broad.mit.edu 37 2 185803269 185803269 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:185803269G>C uc002uph.2 + 4 3740 c.3146G>C c.(3145-3147)TGT>TCT p.C1049S NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 1049 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 AATGTACCATGTGAGGTCTAC 0.463 NA 24 45 0 0 0.00278 0 0 FAM171B 165215 broad.mit.edu 37 2 187604953 187604953 + Splice_Site SNP A A C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:187604953A>C uc002ups.2 + 2 351 c.239_splice c.e2-2 p.V80_splice FAM171B_uc002upr.1_Splice_Site_p.V80_splice NM_177454 NP_803237 Q6P995 F171B_HUMAN KIAA1946 integral to membrane DNA binding ovary(6)|breast(3)|central_nervous_system(1) 10 TTTTCTCTCCAGTGTCTGTAT 0.368 NA 12 10 0 0 0.000978 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187702221 187702221 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:187702221A>T uc002upu.1 - 5 595 c.555T>A c.(553-555)AGT>AGA p.S185R NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM domain containing 2 185 RING-type 1. apoptosis zinc ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) TGTTTGATGTACTCTGATAAT 0.343 NA 16 21 0 0 0.003163 0 0 COL5A2 1290 broad.mit.edu 37 2 189899755 189899755 + Missense_Mutation SNP C C G rs139229616 byFrequency TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:189899755C>G uc002uqk.2 - 53 4515 c.4240G>C c.(4240-4242)GAT>CAT p.D1414H COL5A2_uc010frx.2_Missense_Mutation_p.D990H NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 1414 Fibrillar collagen NC1. axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TTAGCTTGATCGTCCATGTAT 0.383 NA 20 42 0 0 0.010504 0 0 COL5A2 1290 broad.mit.edu 37 2 189923591 189923591 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:189923591C>A uc002uqk.2 - 32 2389 c.2114G>T c.(2113-2115)GGC>GTC p.G705V COL5A2_uc010frx.2_Missense_Mutation_p.G281V NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 705 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TCCTAACGGGCCAACTGCTCC 0.358 NA 8 20 0.00621372 0.00637862 0.006214 1 0 Unknown 0 broad.mit.edu 37 2 190788274 190788274 + Silent SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:190788274T>C uc002uro.2 + 1 356 c.213T>C c.(211-213)GAT>GAC p.D71D SubName: Full=cDNA FLJ54127, highly similar to Heterogeneous nuclear ribonucleoproteins C; NA CAGGAGAGGATGGCAGAATGA 0.483 NA 26 52 0 0 0.003954 0 0 SDPR 8436 broad.mit.edu 37 2 192701327 192701327 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:192701327C>A uc002utb.2 - 2 930 c.600G>T c.(598-600)GTG>GTT p.V200V NM_004657 NP_004648 O95810 SDPR_HUMAN serum deprivation response protein 200 caveola|cytosol phosphatidylserine binding|protein binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) AGGAGAGGTCCACGGTGTGCA 0.532 NA 21 37 1.01871e-10 1.2557e-10 0.008871 1 0 DNAH7 56171 broad.mit.edu 37 2 196681586 196681586 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:196681586T>A uc002utj.3 - 51 9628 c.9527A>T c.(9526-9528)AAG>ATG p.K3176M NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3176 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 AGCCAAGGCCTTGGAGGAAGA 0.393 NA 18 27 0 0 0.007413 0 0 NDUFS1 4719 broad.mit.edu 37 2 206994966 206994966 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:206994966C>T uc002vbe.2 - 15 1681 c.1554G>A c.(1552-1554)AGG>AGA p.R518R NDUFS1_uc010ziq.1_Silent_p.R532R|NDUFS1_uc010zir.1_Silent_p.R482R|NDUFS1_uc010zis.1_Silent_p.R461R|NDUFS1_uc010zit.1_Silent_p.R407R|NDUFS1_uc010ziu.1_Silent_p.R402R NM_005006 NP_004997 P28331 NDUS1_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 1, 518 apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I 2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding ovary(1) 1 NADH(DB00157) GACTTGCAATCCTGCAAAGCA 0.388 NA 7 20 0 0 0.004482 0 0 MDH1B 130752 broad.mit.edu 37 2 207621757 207621757 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:207621757T>C uc002vbs.2 - 4 333 c.278A>G c.(277-279)TAT>TGT p.Y93C MDH1B_uc010ziw.1_RNA|MDH1B_uc010fui.2_Missense_Mutation_p.Y93C|MDH1B_uc010fuj.2_5'UTR|MDH1B_uc002vbt.2_RNA NM_001039845 NP_001034934 Q5I0G3 MDH1B_HUMAN malate dehydrogenase 1B, NAD (soluble) 93 carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle binding|malate dehydrogenase activity ovary(3)|kidney(1) 4 LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145) GGTGACATCATAATAAAGCTA 0.363 Pancreas(76;29 1355 28675 37177 51207) NA 13 12 0 0 0.003163 0 0 CREB1 1385 broad.mit.edu 37 2 208461697 208461697 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:208461697G>A uc002vcc.2 + 9 1192 c.941G>A c.(940-942)AGA>AAA p.R314K CREB1_uc002vcd.2_Missense_Mutation_p.R300K|FAM119A_uc002vce.2_Intron NM_134442 NP_604391 P16220 CREB1_HUMAN cAMP responsive element binding protein 1 314 Leucine-zipper. Required for binding TORCs. activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway protein dimerization activity|transcription cofactor activity EWSR1/CREB1(42) soft_tissue(42)|breast(1)|central_nervous_system(1) 44 LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145) Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183) TTAGAAAACAGAGTGGCAGTG 0.358 NA T EWSR1 clear cell sarcoma|angiomatoid fibrous histiocytoma 16 25 0 0 0.007413 0 0 PLEKHM3 389072 broad.mit.edu 37 2 208866251 208866252 + Missense_Mutation DNP CC CC AG TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:208866251_208866252CC>AG uc002vcl.2 - 2 602_603 c.112_113GG>CT c.(112-114)GGG>CTG p.G38L PLEKHM3_uc002vcm.2_Missense_Mutation_p.G38L NM_001080475 NP_001073944 Q6ZWE6 PKHM3_HUMAN pleckstrin homology domain containing, family M, 38 intracellular signal transduction metal ion binding ovary(1) 1 TTCCTGGATCCCATAAACCTCT 0.485 NA 49 70 0 0 0.004672 0 0 CRYGC 1420 broad.mit.edu 37 2 208994375 208994375 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:208994375G>T uc002vco.3 - 2 80 c.42C>A c.(40-42)GGC>GGA p.G14G NM_020989 NP_066269 P07315 CRGC_HUMAN crystallin, gamma C 14 Beta/gamma crystallin 'Greek key' 1. visual perception cytoplasm|nucleus protein binding|structural constituent of eye lens 0 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133) CGTAGCTGCGGCCCTGGAAGG 0.517 NA 62 93 1.48873e-21 2.25113e-21 0.00361 1 0 UNC80 285175 broad.mit.edu 37 2 210640637 210640637 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:210640637A>G uc010zjc.1 + 3 246 c.166A>G c.(166-168)AAC>GAC p.N56D UNC80_uc002vdj.1_Missense_Mutation_p.N56D NM_032504 NP_115893 Q8N2C7 UNC80_HUMAN chromosome 2 open reading frame 21 isoform 1 56 integral to membrane 0 GTTGGTAGAAAACAAGCTGCA 0.388 NA 36 61 0 0 0.004289 0 0 CPS1 1373 broad.mit.edu 37 2 211465408 211465408 + Missense_Mutation SNP A A C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:211465408A>C uc002vee.3 + 15 1811 c.1679A>C c.(1678-1680)AAG>ACG p.K560T CPS1_uc010fur.2_Missense_Mutation_p.K566T|CPS1_uc010fus.2_Missense_Mutation_p.K109T NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 560 ATP-grasp 1. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) ATCAATGAAAAGATTGCTCCA 0.393 NA 36 37 0 0 0.004289 0 0 SPAG16 79582 broad.mit.edu 37 2 214174813 214174813 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:214174813G>T uc002veq.2 + 4 402 c.310G>T c.(310-312)GCA>TCA p.A104S SPAG16_uc010fuz.1_Intron|SPAG16_uc002ver.2_Missense_Mutation_p.A50S|SPAG16_uc010zjk.1_Intron|SPAG16_uc002veo.2_Missense_Mutation_p.A104S|SPAG16_uc002vep.1_Intron|SPAG16_uc002ves.1_Missense_Mutation_p.A73S NM_024532 NP_078808 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 isoform 1 104 cilium assembly cilium axoneme|flagellar axoneme ovary(1)|skin(1) 2 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) TTCAAAGCATGCAGTACCTGA 0.323 NA 14 22 1.3612e-06 1.52348e-06 0.003163 1 0 FN1 2335 broad.mit.edu 37 2 216262534 216262534 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:216262534C>G uc002vfa.2 - 22 3652 c.3386G>C c.(3385-3387)CGA>CCA p.R1129P FN1_uc002vfb.2_Missense_Mutation_p.R1129P|FN1_uc002vfc.2_Missense_Mutation_p.R1129P|FN1_uc002vfd.2_Missense_Mutation_p.R1129P|FN1_uc002vfe.2_Missense_Mutation_p.R1129P|FN1_uc002vff.2_Missense_Mutation_p.R1129P|FN1_uc002vfg.2_Missense_Mutation_p.R1129P|FN1_uc002vfh.2_Missense_Mutation_p.R1129P|FN1_uc002vfi.2_Missense_Mutation_p.R1129P|FN1_uc002vfj.2_Missense_Mutation_p.R1129P NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 1129 |Fibronectin type-III 6. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGTCACTTCTCGTGGTGCCTC 0.498 NA 23 39 0 0 0.007291 0 0 XRCC5 7520 broad.mit.edu 37 2 216995607 216995607 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:216995607A>G uc002vfy.2 + 9 1087 c.947A>G c.(946-948)TAT>TGT p.Y316C XRCC5_uc002vfz.2_Missense_Mutation_p.Y202C NM_021141 NP_066964 P13010 XRCC5_HUMAN ATP-dependent DNA helicase II 316 Ku. double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding lung(1)|kidney(1) 2 Renal(323;0.0328) Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117) GGGTTCCGCTATGGAAGTGAT 0.388 NA Direct_reversal_of_damage|NHEJ 13 19 0 0 0.001368 0 0 MARCH4 57574 broad.mit.edu 37 2 217234468 217234468 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:217234468C>G uc002vgb.2 - 1 2283 c.516G>C c.(514-516)CAG>CAC p.Q172H NM_020814 NP_065865 Q9P2E8 MARH4_HUMAN membrane-associated ring finger (C3HC4) 4 172 RING-CH-type. Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Renal(323;0.0854) Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125) GGGGACTCACCTGTTCTGGCC 0.537 NA 31 40 0 0 0.004289 0 0 PRKAG3 53632 broad.mit.edu 37 2 219692580 219692580 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:219692580G>T uc002vjb.1 - 7 815 c.796C>A c.(796-798)CAA>AAA p.Q266K PRKAG3_uc010zkn.1_Intron|PRKAG3_uc010fvy.1_Missense_Mutation_p.N307K NM_017431 NP_059127 Q9UGI9 AAKG3_HUMAN AMP-activated protein kinase, non-catalytic 266 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation cytosol AMP-activated protein kinase activity|protein kinase binding ovary(1)|lung(1) 2 Renal(207;0.0474) Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ATCTTATGTTGTTCAATCTCA 0.572 NA 14 34 3.27435e-08 3.81942e-08 0.00245 1 0 CCDC108 255101 broad.mit.edu 37 2 219890813 219890813 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:219890813C>A uc002vjl.1 - 14 2364 c.2280G>T c.(2278-2280)CGG>CGT p.R760R NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 760 integral to membrane structural molecule activity ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGCCTCGTGCCCGCACCGTCA 0.592 NA 16 35 4.14922e-12 5.25513e-12 0.004007 1 0 GLB1L 79411 broad.mit.edu 37 2 220104998 220104998 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:220104998G>T uc002vkm.2 - 6 700 c.461C>A c.(460-462)GCC>GAC p.A154D GLB1L_uc002vkk.2_5'UTR|GLB1L_uc010zkx.1_Intron|GLB1L_uc002vkn.2_Missense_Mutation_p.A154D NM_024506 NP_078782 Q6UWU2 GLB1L_HUMAN galactosidase, beta 1-like precursor 154 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds 0 all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559) Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GTCCACTGCGGCAAGGAAGTC 0.463 NA 25 35 4.4004e-07 4.97101e-07 0.00333 1 0 PTPRN 5798 broad.mit.edu 37 2 220164462 220164462 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:220164462C>T uc002vkz.2 - 10 1572 c.1483G>A c.(1483-1485)GAG>AAG p.E495K PTPRN_uc010zlc.1_Missense_Mutation_p.E405K|PTPRN_uc002vla.2_Intron NM_002846 NP_002837 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 495 Extracellular (Potential). response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(2)|lung(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) TGCACATGCTCAGCCAGGATC 0.577 NA 6 68 0 0 0.001984 0 0 SPEG 10290 broad.mit.edu 37 2 220354191 220354191 + Silent SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:220354191C>G uc010fwg.2 + 36 8451 c.8451C>G c.(8449-8451)GTC>GTG p.V2817V NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 2817 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CCCCGTCAGTCACTGTCAGCC 0.672 NA 4 60 0 0 0.009096 0 0 GMPPA 29926 broad.mit.edu 37 2 220369964 220369964 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:220369964G>A uc002vlr.2 + 8 703 c.635G>A c.(634-636)GGC>GAC p.G212D GMPPA_uc002vls.2_Missense_Mutation_p.G212D|GMPPA_uc002vlt.2_Missense_Mutation_p.G212D|GMPPA_uc002vlu.2_Missense_Mutation_p.G212D|GMPPA_uc002vlv.2_Missense_Mutation_p.G212D|GMPPA_uc002vlw.2_RNA|GMPPA_uc002vlx.2_Missense_Mutation_p.G212D NM_013335 NP_037467 Q96IJ6 GMPPA_HUMAN GDP-mannose pyrophosphorylase A 212 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine GTP binding|mannose-1-phosphate guanylyltransferase activity 0 Renal(207;0.0183) Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148) GACTCACCAGGCTTGTGGCCA 0.592 NA 15 32 0 0 0.00499 0 0 OBSL1 23363 broad.mit.edu 37 2 220435139 220435139 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:220435139C>A uc010fwk.2 - 1 873 c.816G>T c.(814-816)AAG>AAT p.K272N OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Missense_Mutation_p.K272N|OBSL1_uc002vmj.2_Intron|INHA_uc002vmk.1_5'Flank NM_015311 NP_056126 O75147 OBSL1_HUMAN obscurin-like 1 272 Ig-like 3. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity 0 Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) CGGGCTCGGGCTTGCCCATCA 0.701 NA 16 36 1.37285e-15 1.86585e-15 0.004007 1 0 STK11IP 114790 broad.mit.edu 37 2 220476523 220476523 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:220476523A>T uc002vml.2 + 18 2378 c.2335A>T c.(2335-2337)ACC>TCC p.T779S NM_052902 NP_443134 Q8N1F8 S11IP_HUMAN LKB1 interacting protein 779 protein localization cytoplasm protein kinase binding ovary(1) 1 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGCACCGAGCACCCGTGACCA 0.597 NA 9 18 0 0 0.004482 0 0 STK11IP 114790 broad.mit.edu 37 2 220479832 220479832 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:220479832C>T uc002vml.2 + 24 2962 c.2919C>T c.(2917-2919)CTC>CTT p.L973L NM_052902 NP_443134 Q8N1F8 S11IP_HUMAN LKB1 interacting protein 973 protein localization cytoplasm protein kinase binding ovary(1) 1 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCACCTGCCTCGTATCCCTGT 0.632 NA 5 14 0 0 0.000602 0 0 COL4A4 1286 broad.mit.edu 37 2 227915763 227915763 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:227915763C>T uc010zlt.1 - 33 3734 c.3080G>A c.(3079-3081)GGA>GAA p.G1027E NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 1027 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GCCTGGGGGTCCAGGAGGCCC 0.587 NA 32 78 0 0 0.009535 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882198 228882198 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:228882198G>A uc002vpq.2 - 7 3419 c.3372C>T c.(3370-3372)AGC>AGT p.S1124S SPHKAP_uc002vpp.2_Silent_p.S1124S|SPHKAP_uc010zlx.1_Silent_p.S1124S NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1124 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CATCGGTGATGCTCTCACAGC 0.547 NA 17 24 0 0 0.004007 0 0 SPHKAP 80309 broad.mit.edu 37 2 228884135 228884135 + Missense_Mutation SNP T T G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:228884135T>G uc002vpq.2 - 7 1482 c.1435A>C c.(1435-1437)ACC>CCC p.T479P SPHKAP_uc002vpp.2_Missense_Mutation_p.T479P|SPHKAP_uc010zlx.1_Missense_Mutation_p.T479P NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 479 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) ATGCTTGAGGTTTCAACAGAG 0.532 NA 18 28 0 0 0.001882 0 0 TRIP12 9320 broad.mit.edu 37 2 230744732 230744732 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:230744732C>A uc002vpw.1 - 2 173 c.64G>T c.(64-66)GGG>TGG p.G22W TRIP12_uc002vpx.1_Missense_Mutation_p.G22W|TRIP12_uc002vpy.1_Missense_Mutation_p.G22W|TRIP12_uc010zlz.1_RNA|TRIP12_uc010fxh.1_Missense_Mutation_p.G22W NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 22 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) GGTTGGGCCCCGGCAGTGTTC 0.448 NA 9 89 6.40141e-05 6.88944e-05 0.000978 1 0 DIS3L2 129563 broad.mit.edu 37 2 233201200 233201200 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:233201200G>C uc010fxz.2 + 21 2794 c.2518G>C c.(2518-2520)GTG>CTG p.V840L DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA|DIS3L2_uc002vsp.1_RNA NM_152383 NP_689596 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. 840 exonuclease activity|ribonuclease activity|RNA binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) CTTCAGCCTGGTGGAGGTGGT 0.652 NA 16 14 0 0 0.003163 0 0 ALPP 250 broad.mit.edu 37 2 233245182 233245182 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:233245182C>G uc002vsq.2 + 7 1010 c.845C>G c.(844-846)CCG>CGG p.P282R ALPP_uc002vsr.2_5'Flank NM_001632 NP_001623 P05187 PPB1_HUMAN placental alkaline phosphatase preproprotein 282 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding ovary(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) TCCCTGGACCCGTCTGTGACC 0.637 NA 6 116 0 0 0.00308 0 0 TRPM8 79054 broad.mit.edu 37 2 234851361 234851361 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:234851361G>T uc002vvh.2 + 6 708 c.668G>T c.(667-669)CGG>CTG p.R223L TRPM8_uc010fyj.2_5'UTR|TRPM8_uc002vvi.3_Missense_Mutation_p.R173L|TRPM8_uc002vvj.3_Missense_Mutation_p.R146L NM_024080 NP_076985 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, 223 Cytoplasmic (Potential). integral to membrane skin(4) 4 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) GTCTCCAACCGGGACACCCTC 0.552 NA 39 79 9.73076e-26 1.55403e-25 0.006999 1 0 CXCR7 57007 broad.mit.edu 37 2 237489245 237489245 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:237489245C>A uc010fyq.2 + 3 367 c.137C>A c.(136-138)ACG>AAG p.T46K CXCR7_uc002vwd.2_Missense_Mutation_p.T46K NM_020311 NP_064707 P25106 CXCR7_HUMAN chemokine orphan receptor 1 46 Helical; Name=1; (Potential). interspecies interaction between organisms integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding large_intestine(1)|central_nervous_system(1)|skin(1) 3 Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223) Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118) CTGCTCTACACGCTCTCCTTC 0.527 NA 17 10 3.45872e-05 3.74953e-05 0.004007 1 0 CXCR7 57007 broad.mit.edu 37 2 237489334 237489334 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:237489334G>A uc010fyq.2 + 3 456 c.226G>A c.(226-228)GGC>AGC p.G76S CXCR7_uc002vwd.2_Missense_Mutation_p.G76S NM_020311 NP_064707 P25106 CXCR7_HUMAN chemokine orphan receptor 1 76 Cytoplasmic (Potential). interspecies interaction between organisms integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding large_intestine(1)|central_nervous_system(1)|skin(1) 3 Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223) Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118) CAAGACCACAGGCTATGACAC 0.537 NA 15 25 0 0 0.003163 0 0 COL6A3 1293 broad.mit.edu 37 2 238262032 238262032 + Silent SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:238262032A>T uc002vwl.2 - 25 6927 c.6642T>A c.(6640-6642)GGT>GGA p.G2214G COL6A3_uc002vwo.2_Silent_p.G2008G|COL6A3_uc010znj.1_Silent_p.G1607G|COL6A3_uc002vwp.1_Silent_p.G35G NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 2214 Triple-helical region.|Collagen-like 3. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GCTGGCCAGGACCGCCCTTGT 0.532 NA 14 20 0 0 0.004007 0 0 COL6A3 1293 broad.mit.edu 37 2 238283063 238283063 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:238283063G>T uc002vwl.2 - 8 3956 c.3671C>A c.(3670-3672)CCG>CAG p.P1224Q COL6A3_uc002vwo.2_Missense_Mutation_p.P1018Q|COL6A3_uc010znj.1_Missense_Mutation_p.P617Q|COL6A3_uc002vwq.2_Missense_Mutation_p.P1018Q|COL6A3_uc002vwr.2_Missense_Mutation_p.P817Q NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1224 Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) ACCTGGGCTCGGTAGAGGCTG 0.582 NA 42 63 1.31131e-34 2.25628e-34 0.003214 1 0 COL6A3 1293 broad.mit.edu 37 2 238303671 238303671 + Nonsense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:238303671C>A uc002vwl.2 - 3 553 c.268G>T c.(268-270)GAG>TAG p.E90* COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Intron|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Nonsense_Mutation_p.E90* NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 90 VWFA 1.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) AACAGGAACTCGGTATGTGGG 0.383 NA 31 27 3.1745e-13 4.09571e-13 0.008361 1 0 CAPN10 11132 broad.mit.edu 37 2 241537463 241537463 + Silent SNP A A C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:241537463A>C uc002vzk.1 + 10 2086 c.1902A>C c.(1900-1902)ACA>ACC p.T634T CAPN10_uc002vzl.1_Silent_p.T479T|CAPN10_uc002vzm.1_Silent_p.T100T|CAPN10_uc002vzn.1_Silent_p.T506T|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_RNA|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Intron NM_023083 NP_075571 Q9HC96 CAN10_HUMAN calpain 10 isoform a 634 Domain III 2. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding ovary(3)|large_intestine(2)|lung(1) 6 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) TGCCGGACACAGAGGGGGCCT 0.657 NA 5 59 0 0 0.000602 0 0 KIF1A 547 broad.mit.edu 37 2 241724429 241724429 + Nonsense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:241724429C>A uc002vzy.2 - 7 843 c.697G>T c.(697-699)GAG>TAG p.E233* KIF1A_uc010fzk.2_Nonsense_Mutation_p.E233*|KIF1A_uc002vzz.1_Nonsense_Mutation_p.E233* NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 233 Kinesin-motor. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity lung(1) 1 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) ATATTGGTCTCTGCGTCATGG 0.607 NA 56 102 2.6711e-34 4.58377e-34 0.00361 1 0 NSFL1C 55968 broad.mit.edu 37 20 1426310 1426310 + Splice_Site SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:1426310C>A uc002wfc.2 - 8 1898 c.950_splice c.e8+1 p.R317_splice NSFL1C_uc002wfd.2_Splice_Site_p.R206_splice|NSFL1C_uc002wfe.2_Splice_Site_p.R286_splice|NSFL1C_uc002wff.2_Splice_Site|NSFL1C_uc010gag.2_Splice_Site_p.R83_splice NM_016143 NP_057227 Q9UNZ2 NSF1C_HUMAN p47 protein isoform a chromosome|Golgi stack|nucleus lipid binding|protein binding 0 ATGCAAGGTACCTGTGGCTGT 0.512 NA 17 137 1.45105e-14 1.9182e-14 0.006122 1 0 SIRPA 140885 broad.mit.edu 37 20 1915365 1915365 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:1915365C>A uc002wfq.2 + 8 1591 c.1231C>A c.(1231-1233)CAT>AAT p.H411N SIRPA_uc010zps.1_Missense_Mutation_p.H391N|SIRPA_uc002wfr.2_Missense_Mutation_p.H411N|SIRPA_uc002wfs.2_Missense_Mutation_p.H411N|SIRPA_uc002wft.2_Missense_Mutation_p.H411N NM_001040022 NP_001035111 P78324 SHPS1_HUMAN signal-regulatory protein alpha precursor 411 Cytoplasmic (Potential). blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding ovary(1) 1 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) TTTTAGGTTGCATGAGCCCGA 0.323 GBM(155;1668 1920 5945 42733 48121) NA 53 22 1.13709e-37 1.97763e-37 0.00361 1 0 TGM6 343641 broad.mit.edu 37 20 2411243 2411243 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:2411243C>A uc002wfy.1 + 11 1891 c.1830C>A c.(1828-1830)ATC>ATA p.I610I TGM6_uc010gal.1_Silent_p.I610I NM_198994 NP_945345 O95932 TGM3L_HUMAN transglutaminase 6 610 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(3)|skin(1) 4 L-Glutamine(DB00130) TCATCACCATCAAGGTGACCT 0.547 NA 4 47 0.00024832 0.000262719 0.009096 1 0 ZNF343 79175 broad.mit.edu 37 20 2473448 2473448 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:2473448C>A uc002wge.1 - 5 689 c.201G>T c.(199-201)GTG>GTT p.V67V ZNF343_uc010gao.1_Silent_p.V67V|ZNF343_uc002wgd.1_5'UTR NM_024325 NP_077301 Q6P1L6 ZN343_HUMAN zinc finger protein 343 67 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 AGATCACAGTCACATCCCTGA 0.438 NA 91 42 1.11079e-38 1.94767e-38 0.00361 1 0 VPS16 64601 broad.mit.edu 37 20 2841496 2841496 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:2841496C>T uc002whe.2 + 6 665 c.617C>T c.(616-618)GCC>GTC p.A206V VPS16_uc002whh.2_5'Flank|VPS16_uc002whf.2_Missense_Mutation_p.A206V|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_5'Flank NM_022575 NP_072097 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 isoform 1 206 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome ovary(2)|pancreas(1)|skin(1) 4 GACCATGCAGCCTGCTCCGCA 0.577 NA 41 23 0 0 0.00623 0 0 ProSAPiP1 9762 broad.mit.edu 37 20 3147616 3147616 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:3147616T>C uc002wia.1 - 1 1592 c.194A>G c.(193-195)CAG>CGG p.Q65R ProSAPiP1_uc002wib.1_Missense_Mutation_p.Q65R NM_014731 NP_055546 O60299 PRIP1_HUMAN ProSAPiP1 protein 65 cell junction|cytoplasm|postsynaptic density|postsynaptic membrane pancreas(1) 1 GAAACTGCCCTGGCTGCCCCC 0.706 NA 9 6 0 0 0.006214 0 0 ATRN 8455 broad.mit.edu 37 20 3559354 3559354 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:3559354A>T uc002wim.2 + 15 2569 c.2479A>T c.(2479-2481)ACA>TCA p.T827S ATRN_uc002wil.2_Missense_Mutation_p.T827S NM_139321 NP_647537 O75882 ATRN_HUMAN attractin isoform 1 827 Extracellular (Potential).|C-type lectin. inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding ovary(1)|breast(1) 2 GGCTTCTCTTACAACCCAGAA 0.383 NA 9 60 0 0 0.004482 0 0 ADAM33 80332 broad.mit.edu 37 20 3653478 3653478 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:3653478C>A uc002wit.2 - 12 1288 c.1201G>T c.(1201-1203)GGC>TGC p.G401C ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Missense_Mutation_p.G401C|ADAM33_uc002wis.2_5'UTR|ADAM33_uc002wiu.2_Missense_Mutation_p.G401C|uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_3'UTR|ADAM33_uc010zqh.1_3'UTR NM_025220 NP_079496 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 isoform alpha 401 Extracellular (Potential).|Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding large_intestine(2)|ovary(1)|skin(1) 4 CAAGCGCCGCCCCCCTTGCGG 0.731 NA 20 6 6.33239e-15 8.48119e-15 0.010504 1 0 MAVS 57506 broad.mit.edu 37 20 3842153 3842153 + Splice_Site SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:3842153T>C uc002wjw.3 + 4 634 c.465_splice c.e4+2 p.E155_splice MAVS_uc010zqn.1_Intron|MAVS_uc002wjx.3_Splice_Site_p.E14_splice|MAVS_uc002wjy.3_Intron NM_020746 NP_065797 Q7Z434 MAVS_HUMAN virus-induced signaling adapter activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus integral to membrane|mitochondrial outer membrane CARD domain binding|protein kinase binding|signal transducer activity 0 CCAGGAGAGGTCTGTCCTCAT 0.572 NA 32 20 0 0 0.002096 0 0 SLC23A2 9962 broad.mit.edu 37 20 4864461 4864461 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:4864461C>A uc002wlg.1 - 9 1026 c.651G>T c.(649-651)GGG>GGT p.G217G SLC23A2_uc010zqr.1_Intron|SLC23A2_uc002wlh.1_Silent_p.G217G|SLC23A2_uc002wli.2_Silent_p.G216G NM_005116 NP_005107 Q9UGH3 S23A2_HUMAN solute carrier family 23 (nucleobase 217 L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity ovary(2) 2 TGATGATGGCCCCCTGGATCT 0.517 NA 27 15 2.44723e-14 3.22188e-14 0.004656 1 0 MCM8 84515 broad.mit.edu 37 20 5939246 5939246 + Silent SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:5939246A>G uc002wmi.2 + 7 1040 c.663A>G c.(661-663)CTA>CTG p.L221L MCM8_uc002wmj.2_Silent_p.L221L|MCM8_uc002wmk.2_Silent_p.L221L|MCM8_uc002wml.2_Silent_p.L221L|MCM8_uc010gbp.2_Silent_p.L221L NM_032485 NP_115874 Q9UJA3 MCM8_HUMAN minichromosome maintenance complex component 8 221 cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|nucleoside-triphosphatase activity skin(1) 1 ACATTGCTCTAAGAGGGACAG 0.408 NA 8 42 0 0 0.004482 0 0 PLCB1 23236 broad.mit.edu 37 20 8689329 8689329 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:8689329G>T uc002wnb.2 + 12 1183 c.1180G>T c.(1180-1182)GCA>TCA p.A394S PLCB1_uc010zrb.1_Missense_Mutation_p.A293S|PLCB1_uc002wna.2_Missense_Mutation_p.A394S|PLCB1_uc002wnc.1_Missense_Mutation_p.A293S NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 394 PI-PLC X-box. activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 AGTGATAGAAGCAATTGCGGA 0.333 NA 17 8 5.03518e-11 6.25436e-11 0.007413 1 0 PLCB1 23236 broad.mit.edu 37 20 8717814 8717814 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:8717814A>T uc002wnb.2 + 20 2186 c.2183A>T c.(2182-2184)GAA>GTA p.E728V PLCB1_uc010zrb.1_Missense_Mutation_p.E627V|PLCB1_uc002wna.2_Missense_Mutation_p.E728V|PLCB1_uc002wnc.1_Missense_Mutation_p.E627V|PLCB1_uc002wnd.1_Missense_Mutation_p.E305V NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 728 C2. activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 CCTGTCTGGGAAGAAGAACCT 0.378 NA 15 42 0 0 0.003163 0 0 PLCB1 23236 broad.mit.edu 37 20 8770180 8770180 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:8770180G>T uc002wnb.2 + 30 3297 c.3294G>T c.(3292-3294)ATG>ATT p.M1098I PLCB1_uc002wna.2_Missense_Mutation_p.M1098I NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 1098 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 AGACAGAGATGATCCGGTCAT 0.398 NA 70 26 7.33394e-39 1.2871e-38 0.00361 1 0 PLCB4 5332 broad.mit.edu 37 20 9402015 9402015 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:9402015C>A uc002wnf.2 + 25 2326 c.2190C>A c.(2188-2190)CCC>CCA p.P730P PLCB4_uc010gbw.1_Silent_p.P730P|PLCB4_uc010gbx.2_Silent_p.P742P|PLCB4_uc002wne.2_Silent_p.P730P|PLCB4_uc002wnh.2_Silent_p.P577P NM_182797 NP_877949 Q15147 PLCB4_HUMAN phospholipase C beta 4 isoform b 730 C2. intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity skin(11)|ovary(3)|pancreas(1) 15 ATGGGTTGCCCACTGACACCA 0.418 NA 12 56 0.000978159 0.00102147 0.000978 1 0 PAK7 57144 broad.mit.edu 37 20 9546915 9546915 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:9546915G>T uc002wnl.2 - 6 1652 c.1107C>A c.(1105-1107)AGC>AGA p.S369R PAK7_uc002wnk.2_Missense_Mutation_p.S369R|PAK7_uc002wnj.2_Missense_Mutation_p.S369R|PAK7_uc010gby.1_Missense_Mutation_p.S369R NM_020341 NP_065074 Q9P286 PAK7_HUMAN p21-activated kinase 7 369 Linker. ATP binding|protein binding|protein serine/threonine kinase activity lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1) 23 COAD - Colon adenocarcinoma(9;0.194) ACTGGTGACTGCTTGAGGAAT 0.567 NA 92 59 1.05875e-55 1.9464e-55 0.00361 1 0 FLRT3 23767 broad.mit.edu 37 20 14307564 14307564 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:14307564C>A uc002wov.1 - 3 1056 c.589G>T c.(589-591)GGT>TGT p.G197C MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.G197C NM_198391 NP_938205 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 197 Extracellular (Potential).|LRR 6. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity kidney(1) 1 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) CTAGTGAGACCTTGAAGAGAT 0.408 NA 59 24 7.47603e-22 1.13937e-21 0.00361 1 0 KIF16B 55614 broad.mit.edu 37 20 16407825 16407825 + Silent SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:16407825C>G uc002wpg.1 - 15 1694 c.1536G>C c.(1534-1536)GTG>GTC p.V512V KIF16B_uc010gch.1_Silent_p.V512V|KIF16B_uc010gci.1_Silent_p.V512V|KIF16B_uc010gcj.1_Silent_p.V512V NM_024704 NP_078980 Q96L93 KI16B_HUMAN kinesin-like motor protein C20orf23 512 FHA. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1) 8 GTATCAGAGTCACTGTCCCCC 0.443 NA 70 27 0 0 0.00361 0 0 C20orf26 26074 broad.mit.edu 37 20 20051508 20051508 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:20051508A>T uc002wru.2 + 3 230 c.154A>T c.(154-156)AAC>TAC p.N52Y C20orf26_uc010gcw.1_Missense_Mutation_p.N6Y|C20orf26_uc010zse.1_Missense_Mutation_p.N52Y|C20orf26_uc010zsf.1_Missense_Mutation_p.N52Y NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 52 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) AGAAAAGGCCAACCTTGCTGT 0.473 NA 8 30 0 0 0.004482 0 0 INSM1 3642 broad.mit.edu 37 20 20350430 20350430 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:20350430C>G uc002wrx.2 + 1 1666 c.1519C>G c.(1519-1521)CGC>GGC p.R507G NM_002196 NP_002187 Q01101 INSM1_HUMAN insulinoma-associated 1 507 endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0649) GGTGCCCGTGCGCCCGGCCTG 0.667 NA 4 26 0 0 0.000602 0 0 FOXA2 3170 broad.mit.edu 37 20 22563685 22563685 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:22563685G>C uc002wsn.2 - 3 367 c.177C>G c.(175-177)AGC>AGG p.S59R FOXA2_uc002wsm.2_Missense_Mutation_p.S65R NM_153675 NP_710141 Q9Y261 FOXA2_HUMAN forkhead box A2 isoform 2 59 Transactivation domain 1 (By similarity). cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6 cytoplasm|transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2)|kidney(1)|central_nervous_system(1) 4 Lung NSC(19;0.188) TGGAGCCCGCGCTCATGTTGC 0.692 NA 60 35 0 0 0.00361 0 0 SSTR4 6754 broad.mit.edu 37 20 23016580 23016580 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:23016580G>A uc002wsr.2 + 1 524 c.460G>A c.(460-462)GCG>ACG p.A154T NM_001052 NP_001043 P31391 SSR4_HUMAN somatostatin receptor 4 154 Cytoplasmic (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity ovary(1) 1 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) CCCTCTGCGCGCGGCGACCTA 0.662 Esophageal Squamous(15;850 1104 16640) NA 9 65 0 0 0.004482 0 0 SSTR4 6754 broad.mit.edu 37 20 23017029 23017029 + Missense_Mutation SNP C C G rs4988475 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:23017029C>G uc002wsr.2 + 1 973 c.909C>G c.(907-909)AAC>AAG p.N303K NM_001052 NP_001043 P31391 SSR4_HUMAN somatostatin receptor 4 303 Helical; Name=7; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity ovary(1) 1 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) GCTATGCCAACAGCTGCGCCA 0.577 Esophageal Squamous(15;850 1104 16640) NA 104 55 0 0 0.00361 0 0 NXT1 29107 broad.mit.edu 37 20 23334706 23334706 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:23334706G>A uc002wsx.1 + 2 415 c.28G>A c.(28-30)GTG>ATG p.V10M NM_013248 NP_037380 Q9UKK6 NXT1_HUMAN NTF2-like export factor 1 10 cytoplasm|nuclear pore ovary(1) 1 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) CAAGACCTATGTGGATCAGGC 0.557 NA 14 88 0 0 0.00245 0 0 CST5 1473 broad.mit.edu 37 20 23856830 23856830 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:23856830C>G uc002wtr.1 - 3 491 c.424G>C c.(424-426)GTC>CTC p.V142L NM_001900 NP_001891 P28325 CYTD_HUMAN cystatin D precursor 142 extracellular region cysteine-type endopeptidase inhibitor activity|protein binding 0 GACCCCTAGACTTTCCGGCAC 0.542 NA 27 79 0 0 0.008361 0 0 ZNF341 84905 broad.mit.edu 37 20 32357894 32357894 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:32357894A>T uc002wzy.2 + 10 1438 c.1418A>T c.(1417-1419)TAC>TTC p.Y473F ZNF341_uc002wzx.2_Missense_Mutation_p.Y466F|ZNF341_uc010geq.2_Missense_Mutation_p.Y383F|ZNF341_uc010ger.2_RNA NM_032819 NP_116208 Q9BYN7 ZN341_HUMAN zinc finger protein 341 473 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 CTCAAGGTGTACAAGTGTGTG 0.577 NA 21 2 0 0 0.010504 0 0 DLGAP4 22839 broad.mit.edu 37 20 35127691 35127691 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:35127691C>T uc002xff.2 + 9 2492 c.2057C>T c.(2056-2058)CCC>CTC p.P686L DLGAP4_uc010zvp.1_Missense_Mutation_p.P686L|DLGAP4_uc002xfg.2_Intron|DLGAP4_uc002xfh.2_Intron|DLGAP4_uc002xfi.2_5'UTR|DLGAP4_uc002xfj.2_5'UTR NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN disks large-associated protein 4 isoform a 684 cell-cell signaling membrane protein binding skin(2)|ovary(1) 3 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) GACAACGGACCCAAAGCGATC 0.433 NA 27 7 0 0 0.002445 0 0 RALGAPB 57148 broad.mit.edu 37 20 37150226 37150226 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:37150226G>C uc002xiw.2 + 10 1761 c.1504G>C c.(1504-1506)GCA>CCA p.A502P RALGAPB_uc010zvz.1_Intron|RALGAPB_uc002xix.2_Missense_Mutation_p.A502P|RALGAPB_uc002xiy.1_Missense_Mutation_p.A502P|RALGAPB_uc002xiz.2_Missense_Mutation_p.A280P|RALGAPB_uc002xja.1_Missense_Mutation_p.A229P NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit 502 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity pancreas(1)|skin(1) 2 TATGTTTGATGCAAGTGAATT 0.448 NA 81 9 0 0 0.00361 0 0 CHD6 84181 broad.mit.edu 37 20 40049492 40049492 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:40049492C>A uc002xka.1 - 31 5961 c.5783G>T c.(5782-5784)AGG>ATG p.R1928M NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1928 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) GGGGAAAGCCCTCTGTAGCCC 0.507 NA 114 9 2.13259e-42 3.80131e-42 0.00361 1 0 PTPRT 11122 broad.mit.edu 37 20 40979280 40979280 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:40979280C>T uc002xkg.2 - 11 2037 c.1853G>A c.(1852-1854)GGA>GAA p.G618E PTPRT_uc010ggj.2_Missense_Mutation_p.G618E NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 618 Extracellular (Potential).|Fibronectin type-III 4. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GACAGGAGCTCCCCGGGACTG 0.537 NA 72 16 0 0 0.00361 0 0 CSE1L 1434 broad.mit.edu 37 20 47675016 47675016 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:47675016G>T uc002xty.2 + 2 150 c.16G>T c.(16-18)GCA>TCA p.A6S CSE1L_uc010zyg.1_5'UTR|CSE1L_uc010ghx.2_Missense_Mutation_p.A6S NM_001316 NP_001307 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like protein 6 apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity large_intestine(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) ACTCAGCGATGCAAATCTGCA 0.333 NA 56 11 4.48484e-38 7.82823e-38 0.00361 1 0 KCNB1 3745 broad.mit.edu 37 20 47990813 47990813 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:47990813T>A uc002xur.1 - 2 1448 c.1284A>T c.(1282-1284)AAA>AAT p.K428N KCNB1_uc002xus.1_Missense_Mutation_p.K428N NM_004975 NP_004966 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related 428 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity pancreas(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GTTTGATTGCTTTCTCCTGTC 0.498 NA 118 19 0 0 0.00361 0 0 SALL4 57167 broad.mit.edu 37 20 50406859 50406859 + Silent SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:50406859C>G uc002xwh.3 - 2 2264 c.2163G>C c.(2161-2163)ACG>ACC p.T721T SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN sal-like 4 721 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 CAAACCCTAGCGTGGGTGATG 0.597 NA 41 3 0 0 0.007835 0 0 RAE1 8480 broad.mit.edu 37 20 55929848 55929849 + Missense_Mutation DNP TA TA AT TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 TA TA - - TA TA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:55929848_55929849TA>AT uc002xyg.2 + 3 512_513 c.171_172TA>AT c.(169-174)CTTATT>CTATTT p.I58F RAE1_uc010gis.1_Missense_Mutation_p.L19Y|RAE1_uc010git.1_Missense_Mutation_p.I58F|RAE1_uc002xyh.2_Missense_Mutation_p.I58F|RAE1_uc002xyi.2_Missense_Mutation_p.I58F NM_003610 NP_003601 P78406 RAE1L_HUMAN RAE1 (RNA export 1, S.pombe) homolog 58 carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore microtubule binding|RNA binding 0 Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08) GGAACTTTCTTATTGCAGGATC 0.421 NA 19 64 0 0 0.004672 0 0 ZBP1 81030 broad.mit.edu 37 20 56188232 56188232 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:56188232G>A uc002xyo.2 - 5 938 c.657C>T c.(655-657)GTC>GTT p.V219V ZBP1_uc010gjm.2_Silent_p.V218V|ZBP1_uc002xyp.2_Silent_p.V144V|ZBP1_uc010zzn.1_Silent_p.V219V NM_030776 NP_110403 Q9H171 ZBP1_HUMAN Z-DNA binding protein 1 isoform a 219 RIP homotypic interaction motif (RHIM) 1. cytoplasm|nucleus double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding ovary(2) 2 Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08) CCTCCCTGGAGACTGTCTGTC 0.572 NA 47 7 0 0 0.002852 0 0 ZNF831 128611 broad.mit.edu 37 20 57768318 57768318 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:57768318G>T uc002yan.2 + 1 2244 c.2244G>T c.(2242-2244)CTG>CTT p.L748L NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 748 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) GGAGCCCCCTGGTCTCTCCAA 0.642 NA 16 1 2.23348e-06 2.47965e-06 0.004007 1 0 ZNF831 128611 broad.mit.edu 37 20 57828094 57828094 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:57828094G>A uc002yan.2 + 4 4089 c.4089G>A c.(4087-4089)AAG>AAA p.K1363K NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1363 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) GTTGTGGGAAGGAAGAGAAGA 0.468 NA 76 11 0 0 0.00361 0 0 CDH4 1002 broad.mit.edu 37 20 60509225 60509225 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:60509225C>A uc002ybn.1 + 15 2505 c.2491C>A c.(2491-2493)CCG>ACG p.P831T CDH4_uc002ybp.1_Missense_Mutation_p.P757T NM_001794 NP_001785 P55283 CADH4_HUMAN cadherin 4, type 1 preproprotein 831 Cytoplasmic (Potential). adherens junction organization|cell junction assembly calcium ion binding lung(3)|ovary(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) GCCCCAGTACCCGATCAGGCC 0.677 NA 47 6 3.39706e-21 5.12873e-21 0.00361 1 0 YTHDF1 54915 broad.mit.edu 37 20 61833654 61833654 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:61833654C>A uc002yeh.2 - 4 1932 c.1638G>T c.(1636-1638)GAG>GAT p.E546D YTHDF1_uc011aaq.1_Missense_Mutation_p.E496D NM_017798 NP_060268 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 546 ovary(2) 2 GCACCACCTCCTCCTCCTCCT 0.542 NA 62 98 2.32582e-20 3.45213e-20 0.00361 1 0 COL20A1 57642 broad.mit.edu 37 20 61937381 61937381 + Silent SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:61937381G>C uc011aau.1 + 5 586 c.486G>C c.(484-486)CCG>CCC p.P162P COL20A1_uc011aav.1_5'UTR NM_020882 NP_065933 Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 162 cell adhesion collagen|extracellular space structural molecule activity central_nervous_system(1) 1 all_cancers(38;1.39e-10) GCCAGGATCCGCGCACTCCTG 0.627 NA 13 62 0 0 0.001855 0 0 COL20A1 57642 broad.mit.edu 37 20 61941839 61941839 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:61941839G>C uc011aau.1 + 11 1470 c.1370G>C c.(1369-1371)GGC>GCC p.G457A COL20A1_uc011aav.1_Missense_Mutation_p.G278A NM_020882 NP_065933 Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 457 Fibronectin type-III 2. cell adhesion collagen|extracellular space structural molecule activity central_nervous_system(1) 1 all_cancers(38;1.39e-10) GTTGGCGAAGGCCTGCGGGGC 0.687 NA 8 17 0 0 0.00308 0 0 CHRNA4 1137 broad.mit.edu 37 20 61981848 61981848 + Silent SNP G G T rs121912258 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:61981848G>T uc002yes.2 - 5 1093 c.915C>A c.(913-915)CTC>CTA p.L305L CHRNA4_uc002yet.1_Silent_p.L129L|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Silent_p.L234L|CHRNA4_uc002yev.1_Silent_p.L129L|CHRNA4_uc010gkf.1_Silent_p.L129L NM_000744 NP_000735 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 subunit 305 B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(1)|skin(1) 2 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) ACTCGCCGATGAGTGGGATGA 0.592 NA 46 93 8.00217e-19 1.1558e-18 0.00361 1 0 KCNQ2 3785 broad.mit.edu 37 20 62038193 62038193 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:62038193G>T uc002yey.1 - 17 2600 c.2423C>A c.(2422-2424)TCC>TAC p.S808Y KCNQ2_uc002yez.1_Missense_Mutation_p.S777Y|KCNQ2_uc002yfa.1_Missense_Mutation_p.S790Y|KCNQ2_uc002yfb.1_Missense_Mutation_p.S780Y NM_172107 NP_742105 O43526 KCNQ2_HUMAN potassium voltage-gated channel KQT-like protein 808 Cytoplasmic (Potential). axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) CTTGGACTGGGAGATGCTGAA 0.637 NA 17 26 3.41278e-10 4.16424e-10 0.00499 1 0 SRMS 6725 broad.mit.edu 37 20 62172823 62172823 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:62172823A>G uc002yfi.1 - 6 1138 c.1097T>C c.(1096-1098)GTG>GCG p.V366A NM_080823 NP_543013 Q9H3Y6 SRMS_HUMAN src-related kinase lacking C-terminal regulatory 366 Protein kinase. ATP binding|non-membrane spanning protein tyrosine kinase activity stomach(1)|lung(1) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) GAAGTCAGCCACCTTGCAGGC 0.706 NA 18 27 0 0 0.006122 0 0 PRIC285 85441 broad.mit.edu 37 20 62193511 62193511 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:62193511C>A uc002yfm.2 - 11 7335 c.6443G>T c.(6442-6444)GGA>GTA p.G2148V PRIC285_uc002yfl.1_Missense_Mutation_p.G1579V NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN PPAR-alpha interacting complex protein 285 2148 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding central_nervous_system(2) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) GTGGCGGCCTCCGGGGATGTT 0.662 NA 19 33 5.35267e-07 6.03971e-07 0.007413 1 0 RTEL1 51750 broad.mit.edu 37 20 62292793 62292793 + Missense_Mutation SNP C C T rs143461704 byFrequency TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:62292793C>T uc002yfu.1 + 3 588 c.245C>T c.(244-246)CCG>CTG p.P82L RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Missense_Mutation_p.P82L|RTEL1_uc011abd.1_Missense_Mutation_p.P82L|RTEL1_uc002yfv.2_Missense_Mutation_p.P82L|RTEL1_uc011abe.1_5'UTR|RTEL1_uc002yfw.2_RNA NM_016434 NP_057518 Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 82 Helicase ATP-binding. DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding 0 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) GAGCTTTTCCCGGATCGGGCC 0.647 NA 17 49 0 0 0.006122 0 0 MYT1 4661 broad.mit.edu 37 20 62839650 62839650 + Silent SNP G G A rs148738850 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:62839650G>A uc002yii.2 + 7 1465 c.1101G>A c.(1099-1101)TCG>TCA p.S367S MYT1_uc002yih.2_Intron|MYT1_uc002yij.2_5'UTR NM_004535 NP_004526 Q01538 MYT1_HUMAN myelin transcription factor 1 367 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) CTGACGAGTCGGAGATGCAGG 0.612 GBM(59;481 1041 20555 21139 33705) NA 47 89 0 0 0.00361 0 0 MYT1 4661 broad.mit.edu 37 20 62848565 62848565 + Nonsense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:62848565C>T uc002yii.2 + 11 2141 c.1777C>T c.(1777-1779)CAG>TAG p.Q593* MYT1_uc002yih.2_Nonsense_Mutation_p.Q295*|MYT1_uc002yij.2_Nonsense_Mutation_p.Q225* NM_004535 NP_004526 Q01538 MYT1_HUMAN myelin transcription factor 1 593 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) TTTCGATGCTCAGGTTTTTGG 0.522 GBM(59;481 1041 20555 21139 33705) NA 58 99 0 0 0.00361 0 0 TPTE 7179 broad.mit.edu 37 21 10944758 10944758 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr21:10944758T>A uc002yip.1 - 11 844 c.476A>T c.(475-477)AAC>ATC p.N159I TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.N141I|TPTE_uc002yir.1_Missense_Mutation_p.N121I|TPTE_uc010gkv.1_Missense_Mutation_p.N21I NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 159 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATCTAAAATGTTAAATAAGTC 0.318 NA 18 36 0 0 0.00499 0 0 BAGE2 85319 broad.mit.edu 37 21 11021212 11021212 + Splice_Site SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr21:11021212C>G uc002yit.1 - 9 1714 c.1506_splice c.e9-1 TPTE_uc002yis.1_Splice_Site NM_182482 NP_872288 B melanoma antigen family, member 2 precursor 0 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CAGTAGACACCTATAAAAAGC 0.299 NA 7 54 0 0 0.004482 0 0 USP25 29761 broad.mit.edu 37 21 17150265 17150265 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr21:17150265G>A uc002yjy.1 + 4 528 c.311G>A c.(310-312)AGA>AAA p.R104K USP25_uc011aby.1_Missense_Mutation_p.R104K|USP25_uc002yjz.1_Missense_Mutation_p.R104K|USP25_uc010gla.1_Missense_Mutation_p.R104K NM_013396 NP_037528 Q9UHP3 UBP25_HUMAN ubiquitin specific peptidase 25 104 UIM 1. protein modification process|ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(3)|liver(2) 5 Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889) GATCTTCAGAGAGCAATTGCC 0.348 NA 23 4 0 0 0.009535 0 0 ADAMTS1 9510 broad.mit.edu 37 21 28214257 28214257 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr21:28214257G>T uc002ymf.2 - 3 1585 c.1130C>A c.(1129-1131)ACT>AAT p.T377N NM_006988 NP_008919 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 377 Peptidase M12B. integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding lung(3)|large_intestine(2)|central_nervous_system(1) 6 Breast(209;0.000962) Lung(58;0.215) ATCACACACAGTTCCAACATC 0.453 NA 43 6 5.44703e-19 7.88514e-19 0.009718 1 0 ADAMTS5 11096 broad.mit.edu 37 21 28305285 28305285 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr21:28305285C>A uc002ymg.2 - 5 2497 c.1768G>T c.(1768-1770)GCC>TCC p.A590S NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 590 TSP type-1 1. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 TGACGATAGGCAAACTGCACT 0.542 Esophageal Squamous(53;683 1080 10100 14424 45938) NA 23 1 1.96895e-08 2.31065e-08 0.00278 1 0 C21orf7 56911 broad.mit.edu 37 21 30547109 30547109 + Missense_Mutation SNP G G C rs149210929 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr21:30547109G>C uc002yne.2 + 8 896 c.625G>C c.(625-627)GCT>CCT p.A209P C21orf7_uc011acr.1_RNA|C21orf7_uc002ynd.2_RNA|C21orf7_uc010gln.2_RNA|C21orf7_uc002ynf.2_Missense_Mutation_p.A209P|C21orf7_uc010glo.2_Missense_Mutation_p.A54P|C21orf7_uc002yng.2_Missense_Mutation_p.A109P|C21orf7_uc010glp.2_RNA NM_020152 NP_064537 P57077 TAK1L_HUMAN chromosome 21 open reading frame 7 209 cytosol|nucleus protein binding ovary(2) 2 Colorectal(56;0.248) GGAATTCGAGGCTCTGACGGA 0.522 NA 57 9 0 0 0.00361 0 0 DOPEY2 9980 broad.mit.edu 37 21 37642320 37642320 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr21:37642320C>G uc002yvg.2 + 27 5576 c.5497C>G c.(5497-5499)CAG>GAG p.Q1833E DOPEY2_uc011aeb.1_Missense_Mutation_p.Q1782E NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 1833 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 GGAAATCACTCAGAAAATCCT 0.408 NA 201 28 0 0 0.00361 0 0 DSCAM 1826 broad.mit.edu 37 21 41446970 41446970 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr21:41446970G>T uc002yyq.1 - 27 5334 c.4882C>A c.(4882-4884)CTG>ATG p.L1628M DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1628 Cytoplasmic (Potential). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CTACCTCGCAGCCTCTTTAGC 0.607 Melanoma(134;970 1778 1785 21664 32388) NA 28 4 8.88839e-20 1.30327e-19 0.002096 1 0 MX2 4600 broad.mit.edu 37 21 42767649 42767649 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr21:42767649G>T uc002yzf.1 + 7 1111 c.1007G>T c.(1006-1008)AGG>ATG p.R336M MX2_uc011aer.1_RNA|MX2_uc002yzg.1_Missense_Mutation_p.R59M NM_002463 NP_002454 P20592 MX2_HUMAN myxovirus resistance protein 2 336 response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity ovary(2) 2 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) ATCACAAACAGGCTGAGCTTG 0.478 NA 55 12 1.54043e-34 2.64582e-34 0.00361 1 0 RRP1 8568 broad.mit.edu 37 21 45213224 45213224 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr21:45213224G>T uc002zds.2 + 4 392 c.299G>T c.(298-300)TGG>TTG p.W100L RRP1_uc011aez.1_Missense_Mutation_p.W100L|RRP1_uc010gpk.1_5'UTR|RRP1_uc010gpl.1_5'UTR NM_003683 NP_003674 P56182 RRP1_HUMAN ribosomal RNA processing 1 homolog 100 rRNA processing nucleolus|preribosome, small subunit precursor 0 COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171) CAGGCCTTCTGGCAGACCATG 0.602 NA 154 31 1.03023e-69 1.92508e-69 0.00361 1 0 C21orf29 54084 broad.mit.edu 37 21 45929249 45929249 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr21:45929249C>A uc002zfe.1 - 10 1653 c.1587G>T c.(1585-1587)TGG>TGT p.W529C C21orf29_uc010gpv.1_Missense_Mutation_p.W461C NM_144991 NP_659428 Q8WU66 TSEAR_HUMAN chromosome 21 open reading frame 29 precursor 529 EAR 5. cell adhesion extracellular region structural molecule activity 0 GGAAGACCTCCCAGTCTGCAG 0.413 NA 35 4 8.69298e-16 1.1873e-15 0.006999 1 0 POTEH 23784 broad.mit.edu 37 22 16287400 16287400 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr22:16287400G>T uc010gqp.2 - 1 538 c.486C>A c.(484-486)GAC>GAA p.D162E POTEH_uc002zlg.1_RNA|POTEH_uc002zlh.1_5'UTR|POTEH_uc002zlj.1_5'UTR NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN ANKRD26-like family C, member 3 162 skin(1) 1 TGAAAGCGCTGTCGTCGTAGT 0.592 NA 87 147 1.96202e-32 3.32272e-32 0.00361 1 0 CLTCL1 8218 broad.mit.edu 37 22 19203652 19203652 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr22:19203652C>A uc002zpb.2 - 19 3109 c.3034G>T c.(3034-3036)GTT>TTT p.V1012F CLTCL1_uc011agv.1_Missense_Mutation_p.V1012F|CLTCL1_uc011agw.1_Missense_Mutation_p.V1012F|CLTCL1_uc002zpe.2_5'Flank|CLTCL1_uc002zpd.1_5'Flank NM_007098 NP_009029 P53675 CLH2_HUMAN clathrin, heavy polypeptide-like 1 isoform 1 1012 Proximal segment.|Heavy chain arm. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity ovary(4)|central_nervous_system(1) 5 Colorectal(54;0.0993) TTATCCAGAACTATCTTCTCC 0.473 NA T ? ALCL 52 3 1.17673e-23 1.83089e-23 0.00361 1 0 AIFM3 150209 broad.mit.edu 37 22 21329084 21329084 + Nonsense_Mutation SNP C C A rs138399322 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr22:21329084C>A uc002ztj.2 + 8 917 c.699C>A c.(697-699)TAC>TAA p.Y233* AIFM3_uc002ztk.2_Nonsense_Mutation_p.Y233*|AIFM3_uc002ztl.2_Nonsense_Mutation_p.Y239*|AIFM3_uc011ahx.1_Nonsense_Mutation_p.Y221*|AIFM3_uc002ztm.1_Nonsense_Mutation_p.Y45* NM_144704 NP_653305 Q96NN9 AIFM3_HUMAN apoptosis-inducing factor, 233 activation of caspase activity by cytochrome c|cell redox homeostasis|electron transport chain|induction of apoptosis|mitochondrial depolarization|transport endoplasmic reticulum|mitochondrial inner membrane 2 iron, 2 sulfur cluster binding|caspase activator activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity|protein binding ovary(2)|lung(2) 4 all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0367) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) ACCTTCCCTACGACCGTCCCA 0.627 NA 148 4 5.24422e-81 9.87567e-81 0.00361 1 0 GNAZ 2781 broad.mit.edu 37 22 23438545 23438545 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr22:23438545C>A uc002zwu.1 + 2 1200 c.663C>A c.(661-663)GCC>GCA p.A221A RTDR1_uc002zwt.2_Intron NM_002073 NP_002064 P19086 GNAZ_HUMAN guanine nucleotide binding protein, alpha z 221 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity kidney(1)|skin(1) 2 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) GCGTCACAGCCATCATCTTCT 0.557 NA 405 29 4.57064e-181 8.6663e-181 0.00361 1 0 MYO18B 84700 broad.mit.edu 37 22 26294316 26294316 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr22:26294316G>T uc003abz.1 + 29 4961 c.4711G>T c.(4711-4713)GCT>TCT p.A1571S MYO18B_uc003aca.1_Missense_Mutation_p.A1452S|MYO18B_uc010guy.1_Missense_Mutation_p.A1453S|MYO18B_uc010guz.1_Missense_Mutation_p.A1451S|MYO18B_uc011aka.1_Missense_Mutation_p.A725S|MYO18B_uc011akb.1_Missense_Mutation_p.A1084S NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1571 Potential.|Tail. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 CAAGAAGATGGCTCACCAACT 0.488 NA 104 8 2.97704e-61 5.52552e-61 0.00361 1 0 MYO18B 84700 broad.mit.edu 37 22 26422693 26422693 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr22:26422693G>T uc003abz.1 + 43 7003 c.6753G>T c.(6751-6753)TCG>TCT p.S2251S MYO18B_uc003aca.1_Silent_p.S2132S|MYO18B_uc010guy.1_Silent_p.S2133S|MYO18B_uc010guz.1_Silent_p.S2131S|MYO18B_uc011aka.1_Silent_p.S1405S|MYO18B_uc011akb.1_Silent_p.S1764S|MYO18B_uc010gva.1_Silent_p.S234S|MYO18B_uc010gvb.1_RNA NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2251 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 CGGCCCTCTCGGAGTTCGTGG 0.607 NA 41 1 6.5261e-18 9.28733e-18 0.00874 1 0 SEZ6L 23544 broad.mit.edu 37 22 26692873 26692873 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr22:26692873C>A uc003acb.2 + 4 1145 c.989C>A c.(988-990)TCC>TAC p.S330Y SEZ6L_uc003acc.2_Missense_Mutation_p.S330Y|SEZ6L_uc011akc.1_Missense_Mutation_p.S330Y|SEZ6L_uc003acd.2_Missense_Mutation_p.S330Y|SEZ6L_uc011akd.1_Missense_Mutation_p.S330Y|SEZ6L_uc003ace.2_Missense_Mutation_p.S330Y|SEZ6L_uc003acf.1_Missense_Mutation_p.S103Y|SEZ6L_uc010gvc.1_Missense_Mutation_p.S103Y NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 330 CUB 1.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane ovary(4)|central_nervous_system(1)|pancreas(1) 6 GTGAACCTGTCCGATGGGGAA 0.577 NA 40 4 8.16277e-20 1.19869e-19 0.006999 1 0 SEZ6L 23544 broad.mit.edu 37 22 26706660 26706660 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr22:26706660C>T uc003acb.2 + 7 1695 c.1539C>T c.(1537-1539)ACC>ACT p.T513T SEZ6L_uc003acc.2_Silent_p.T513T|SEZ6L_uc011akc.1_Silent_p.T513T|SEZ6L_uc003acd.2_Silent_p.T513T|SEZ6L_uc011akd.1_Silent_p.T513T|SEZ6L_uc003ace.2_Silent_p.T513T|SEZ6L_uc003acf.1_Silent_p.T286T|SEZ6L_uc010gvc.1_Silent_p.T286T NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 513 CUB 2.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane ovary(4)|central_nervous_system(1)|pancreas(1) 6 GCGGGCAGACCAACAAGTCAG 0.572 NA 133 9 0 0 0.00361 0 0 SEZ6L 23544 broad.mit.edu 37 22 26747053 26747053 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr22:26747053T>A uc003acb.2 + 12 2599 c.2443T>A c.(2443-2445)TCG>ACG p.S815T SEZ6L_uc003acc.2_Missense_Mutation_p.S815T|SEZ6L_uc011akc.1_Missense_Mutation_p.S815T|SEZ6L_uc003acd.2_Intron|SEZ6L_uc011akd.1_Missense_Mutation_p.S815T|SEZ6L_uc003ace.2_Missense_Mutation_p.S815T|SEZ6L_uc003acf.1_Missense_Mutation_p.S588T|SEZ6L_uc010gvc.1_Missense_Mutation_p.S588T|SEZ6L_uc011ake.1_RNA NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 815 Sushi 4.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane ovary(4)|central_nervous_system(1)|pancreas(1) 6 GGTGGATCACTCGACCCGCTT 0.542 NA 8 159 0 0 0.006214 0 0 SRRD 402055 broad.mit.edu 37 22 26887615 26887615 + Nonsense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr22:26887615G>T uc010gve.2 + 7 1004 c.997G>T c.(997-999)GAA>TAA p.E333* SRRD_uc003acp.3_Nonsense_Mutation_p.E326*|uc003acu.1_5'Flank NM_001013694 NP_001013716 Q9UH36 SRR1L_HUMAN SRR1 domain containing 333 rhythmic process 0 GAACAAGAGAGAAGATCCTTC 0.468 NA 9 58 2.74318e-10 3.35779e-10 0.006214 1 0 TPST2 8459 broad.mit.edu 37 22 26936942 26936942 + Nonsense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr22:26936942C>A uc003acv.2 - 2 823 c.655G>T c.(655-657)GAG>TAG p.E219* TPST2_uc003acw.2_Nonsense_Mutation_p.E219*|TPST2_uc003acx.2_Nonsense_Mutation_p.E219*|TPST2_uc011akf.1_Nonsense_Mutation_p.E219* NM_003595 NP_003586 O60704 TPST2_HUMAN tyrosylprotein sulfotransferase 2 219 Lumenal (Potential). peptidyl-tyrosine sulfation endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction protein-tyrosine sulfotransferase activity central_nervous_system(1) 1 TACATCACCTCGATGGCCTTG 0.597 NA 19 62 1.01871e-10 1.2557e-10 0.008871 1 0 MN1 4330 broad.mit.edu 37 22 28192875 28192875 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr22:28192875C>A uc003adj.2 - 1 4612 c.3657G>T c.(3655-3657)CTG>CTT p.L1219L NM_002430 NP_002421 Q10571 MN1_HUMAN meningioma 1 1219 binding central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1) 10 GCTCTGCCATCAGCGAGTCCA 0.667 NA T ETV6 AML|meningioma 100 8 5.78178e-49 1.05094e-48 0.00361 1 0 MN1 4330 broad.mit.edu 37 22 28193258 28193258 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr22:28193258C>A uc003adj.2 - 1 4229 c.3274G>T c.(3274-3276)GGG>TGG p.G1092W NM_002430 NP_002421 Q10571 MN1_HUMAN meningioma 1 1092 binding central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1) 10 CCGTGTTCCCCGGCGCCTACC 0.697 NA T ETV6 AML|meningioma 27 1 3.6726e-16 5.03746e-16 0.003954 1 0 CCDC117 150275 broad.mit.edu 37 22 29182289 29182289 + Missense_Mutation SNP G G T rs9613680 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr22:29182289G>T uc003aeb.2 + 5 991 c.815G>T c.(814-816)AGC>ATC p.S272I CCDC117_uc011aki.1_Missense_Mutation_p.S254I|CCDC117_uc011akj.1_Missense_Mutation_p.S197I|CCDC117_uc011akk.1_Missense_Mutation_p.S140I NM_173510 NP_775781 Q8IWD4 CC117_HUMAN coiled-coil domain containing 117 272 breast(1) 1 ACAGCTACTAGCACAGAAGAA 0.418 NA 62 9 1.1362e-29 1.8878e-29 0.00361 1 0 RFPL1 5988 broad.mit.edu 37 22 29834927 29834927 + Missense_Mutation SNP A A C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr22:29834927A>C uc003afn.2 + 1 356 c.147A>C c.(145-147)AAA>AAC p.K49N RFPL1S_uc003afm.1_RNA NM_021026 NP_066306 O75677 RFPL1_HUMAN ret finger protein-like 1 49 RING-type. zinc ion binding 0 ATCTAGAGAAACCAATGTCCC 0.512 NA 69 11 0 0 0.00361 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30688566 30688566 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr22:30688566C>A uc011akt.1 - 11 1349 c.1325G>T c.(1324-1326)AGA>ATA p.R442I GATSL3_uc003ahc.2_5'Flank|GATSL3_uc003ahe.2_5'Flank|GATSL3_uc003ahd.2_5'Flank|GATSL3_uc003ahf.2_Intron|GATSL3_uc003ahg.2_Intron|GATSL3_uc003ahh.2_Intron|GATSL3_uc010gvq.2_Intron|GATSL3_uc003ahi.2_Intron|GATSL3_uc010gvr.2_5'Flank|GATSL3_uc010gvs.2_5'Flank|TBC1D10A_uc003ahj.3_Missense_Mutation_p.R354I|TBC1D10A_uc010gvu.2_Missense_Mutation_p.R449I|TBC1D10A_uc003ahk.3_Missense_Mutation_p.R442I NM_031937 NP_114143 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 442 intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity ovary(1) 1 CAGCTGCCCTCTCCCCTTCAT 0.647 NA 88 11 3.90494e-43 6.97982e-43 0.00361 1 0 APOL3 80833 broad.mit.edu 37 22 36556832 36556832 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr22:36556832T>C uc003aot.2 - 1 146 c.108A>G c.(106-108)ATA>ATG p.I36M APOL3_uc003aoq.2_Translation_Start_Site|APOL3_uc003aor.2_Translation_Start_Site|APOL3_uc003aos.2_Translation_Start_Site|APOL3_uc003aou.2_Translation_Start_Site|APOL3_uc003aov.2_Translation_Start_Site NM_145640 NP_663615 O95236 APOL3_HUMAN apolipoprotein L3 isoform 1 36 inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region lipid binding|lipid transporter activity|signal transducer activity 0 GGCTCTGAGATATACCCTGGA 0.517 NA 40 8 0 0 0.007835 0 0 CSF2RB 1439 broad.mit.edu 37 22 37334022 37334022 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr22:37334022G>T uc003aqa.3 + 14 2389 c.2172G>T c.(2170-2172)GGG>GGT p.G724G CSF2RB_uc003aqc.3_Silent_p.G730G NM_000395 NP_000386 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta 724 Cytoplasmic (Potential). respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity skin(2)|pancreas(1) 3 Sargramostim(DB00020) CAAACTCAGGGGCCTCGTCTG 0.632 NA 83 18 5.01286e-43 8.95186e-43 0.00361 1 0 TST 7263 broad.mit.edu 37 22 37407135 37407135 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr22:37407135C>A uc003aqg.2 - 2 1527 c.827G>T c.(826-828)TGG>TTG p.W276L TST_uc003aqh.2_Missense_Mutation_p.W276L NM_003312 NP_003303 Q16762 THTR_HUMAN thiosulfate sulfurtransferase 276 Rhodanese 2. cyanate catabolic process|rRNA transport mitochondrial matrix|plasma membrane 5S rRNA binding|thiosulfate sulfurtransferase activity 0 CCACTCGGACCAGGAGCCATC 0.642 NA 22 37 0.000295444 0.000312234 0.002299 1 0 PLA2G6 8398 broad.mit.edu 37 22 38524306 38524306 + Nonsense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr22:38524306G>A uc003auy.1 - 9 1454 c.1318C>T c.(1318-1320)CAG>TAG p.Q440* PLA2G6_uc003auz.1_Intron|PLA2G6_uc003ava.1_Nonsense_Mutation_p.Q440*|PLA2G6_uc003avb.2_Intron|PLA2G6_uc010gxk.1_RNA|PLA2G6_uc011ano.1_Nonsense_Mutation_p.Q405* NM_003560 NP_003551 O60733 PA2G6_HUMAN phospholipase A2, group VI isoform a 440 cardiolipin biosynthetic process|cell death|lipid catabolic process centrosome|membrane ovary(1) 1 Melanoma(58;0.045) Quinacrine(DB01103) GGTGGGGGCTGAGCTCTTTCC 0.652 NA 14 18 0 0 0.003163 0 0 TOMM22 56993 broad.mit.edu 37 22 39079772 39079772 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr22:39079772A>G uc003awe.2 + 4 385 c.355A>G c.(355-357)ATA>GTA p.I119V uc003awd.2_5'Flank NM_020243 NP_064628 Q9NS69 TOM22_HUMAN mitochondrial import receptor Tom22 119 Mitochondrial intermembrane (Potential). protein import into mitochondrial outer membrane integral to membrane|integral to membrane of membrane fraction|mitochondrial outer membrane translocase complex protein binding|protein transmembrane transporter activity|receptor activity 0 Melanoma(58;0.04) TCTTTTCCAGATACTTCTAGG 0.463 NA 25 36 0 0 0.004656 0 0 ENTHD1 150350 broad.mit.edu 37 22 40139884 40139884 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr22:40139884G>C uc003ayg.2 - 7 1875 c.1624C>G c.(1624-1626)CCT>GCT p.P542A NM_152512 NP_689725 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 542 ovary(2)|skin(1) 3 Melanoma(58;0.0749) TTTGCTTCAGGTTCCTGGGGG 0.438 NA 11 17 0 0 0.008291 0 0 MPPED1 758 broad.mit.edu 37 22 43898595 43898595 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr22:43898595C>A uc011apv.1 + 6 1043 c.820C>A c.(820-822)CGC>AGC p.R274S MPPED1_uc011apw.1_Missense_Mutation_p.R168S|MPPED1_uc011apx.1_Missense_Mutation_p.R116S|MPPED1_uc011apy.1_Missense_Mutation_p.R274S|MPPED1_uc011apz.1_Missense_Mutation_p.R307S NM_001044370 NP_001037835 O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 274 hydrolase activity 0 all_neural(38;0.0244)|Ovarian(80;0.0694) GGTGCAGAGGCGCGTCCAGCC 0.617 NA 56 15 2.01871e-26 3.25078e-26 0.00361 1 0 EFCAB6 64800 broad.mit.edu 37 22 44131757 44131757 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr22:44131757T>A uc003bdy.1 - 7 839 c.624A>T c.(622-624)TTA>TTT p.L208F EFCAB6_uc003bdz.1_Missense_Mutation_p.L56F|EFCAB6_uc010gzi.1_Missense_Mutation_p.L56F|EFCAB6_uc011aqa.1_Missense_Mutation_p.L102F|EFCAB6_uc003bea.1_Missense_Mutation_p.L205F|EFCAB6_uc003beb.3_Missense_Mutation_p.L102F NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 208 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) CCTCGTCTCTTAACTTCATAC 0.428 NA 60 12 0 0 0.00361 0 0 FBLN1 2192 broad.mit.edu 37 22 45914600 45914600 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr22:45914600G>A uc003bgj.1 + 2 265 c.118G>A c.(118-120)GGA>AGA p.G40R FBLN1_uc003bgg.1_Missense_Mutation_p.G40R|FBLN1_uc003bgh.2_Missense_Mutation_p.G40R|FBLN1_uc010gzz.2_Missense_Mutation_p.G40R|FBLN1_uc003bgi.1_Missense_Mutation_p.G40R NM_006486 NP_006477 P23142 FBLN1_HUMAN fibulin 1 isoform D 40 Anaphylatoxin-like 1. interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding ovary(1)|central_nervous_system(1) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) CTGTGCGGACGGACACCGGAT 0.597 NA 3 8 0 0 0.009096 0 0 CHL1 10752 broad.mit.edu 37 3 419519 419519 + Silent SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:419519T>A uc003bou.2 + 15 1993 c.1722T>A c.(1720-1722)GCT>GCA p.A574A CHL1_uc003bot.2_Silent_p.A590A|CHL1_uc003bow.1_Silent_p.A574A|CHL1_uc011asi.1_Silent_p.A590A|uc003box.1_Intron NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 574 Ig-like C2-type 6.|Extracellular (Potential). axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) TTGATGGAGCTAATTTGACCA 0.338 NA 42 4 0 0 0.00874 0 0 CHL1 10752 broad.mit.edu 37 3 433372 433372 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:433372A>T uc003bou.2 + 22 3029 c.2758A>T c.(2758-2760)ACT>TCT p.T920S CHL1_uc003bot.2_Missense_Mutation_p.T936S|CHL1_uc003bow.1_Missense_Mutation_p.T920S|CHL1_uc011asi.1_Missense_Mutation_p.T936S NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 920 Fibronectin type-III 4.|Extracellular (Potential). axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) TGAACAGCCAACTTTTCTAAA 0.294 NA 32 6 0 0 0.003271 0 0 CHL1 10752 broad.mit.edu 37 3 447347 447347 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:447347G>A uc003bou.2 + 27 3851 c.3580G>A c.(3580-3582)GTT>ATT p.V1194I CHL1_uc003bot.2_Missense_Mutation_p.V1210I|CHL1_uc011asi.1_Missense_Mutation_p.V1157I NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 1194 Cytoplasmic (Potential). axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) GAAGGGATCTGTTGAAAGCAA 0.453 NA 35 7 0 0 0.005524 0 0 GRM7 2917 broad.mit.edu 37 3 7494358 7494358 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:7494358C>T uc003bqm.2 + 6 1513 c.1239C>T c.(1237-1239)GAC>GAT p.D413D GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Silent_p.D413D|GRM7_uc003bql.2_Silent_p.D413D|GRM7_uc003bqn.1_Translation_Start_Site|GRM7_uc010hch.1_Translation_Start_Site NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 413 Extracellular (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) TCGTGATTGACGCAGTCTATG 0.453 NA 26 6 0 0 0.003954 0 0 ATP2B2 491 broad.mit.edu 37 3 10392241 10392241 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:10392241C>A uc003bvt.2 - 15 2596 c.2157G>T c.(2155-2157)AAG>AAT p.K719N ATP2B2_uc003bvv.2_Missense_Mutation_p.K674N|ATP2B2_uc003bvw.2_Missense_Mutation_p.K674N|ATP2B2_uc010hdo.2_Missense_Mutation_p.K424N NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 719 Cytoplasmic (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 CCCGCTGGCACTTGCGGATGG 0.647 Ovarian(125;1619 1709 15675 19819 38835) NA 57 8 2.67592e-24 4.20067e-24 0.00361 1 0 NUP210 23225 broad.mit.edu 37 3 13401954 13401954 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:13401954C>A uc003bxv.1 - 15 2053 c.1970G>T c.(1969-1971)GGC>GTC p.G657V NUP210_uc003bxx.2_Missense_Mutation_p.G329V NM_024923 NP_079199 Q8TEM1 PO210_HUMAN nucleoporin 210 precursor 657 Lumenal (Probable). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1) 11 all_neural(104;0.187) CTTTGAGGAGCCCAGGGTTAC 0.572 NA 16 6 1.15088e-07 1.32252e-07 0.004007 1 0 KCNH8 131096 broad.mit.edu 37 3 19479673 19479673 + Nonsense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:19479673G>T uc003cbk.1 + 8 1390 c.1195G>T c.(1195-1197)GGA>TGA p.G399* KCNH8_uc011awe.1_Nonsense_Mutation_p.G399*|KCNH8_uc010hex.1_5'UTR|KCNH8_uc011awf.1_Nonsense_Mutation_p.G30* NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 399 Extracellular (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 TCATGAGTTGGGAAAGAGACT 0.443 NSCLC(124;1625 1765 8018 24930 42026) NA 186 32 1.2754e-92 2.41117e-92 0.00361 1 0 NEK10 152110 broad.mit.edu 37 3 27233735 27233735 + Splice_Site SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:27233735T>A uc010hfk.2 - 5 457 c.228_splice c.e5-1 p.R76_splice NEK10_uc003cds.1_Splice_Site_p.R161_splice|NEK10_uc010hfj.2_Splice_Site_p.R76_splice Q6ZWH5 NEK10_HUMAN RecName: Full=Serine/threonine-protein kinase Nek10; EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10; ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1) 13 GTGAGGCACCTAAGATAACAT 0.413 NA 10 19 0 0 0.008291 0 0 TRANK1 9881 broad.mit.edu 37 3 36897117 36897117 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:36897117C>A uc003cgj.2 - 3 2616 c.2314G>T c.(2314-2316)GGG>TGG p.G772W NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 1322 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 GTGAGTCTCCCATGGGGACAG 0.448 NA 107 15 2.01602e-52 3.69572e-52 0.00361 1 0 TRANK1 9881 broad.mit.edu 37 3 36897470 36897470 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:36897470T>A uc003cgj.2 - 3 2263 c.1961A>T c.(1960-1962)CAG>CTG p.Q654L NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 1204 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 AAGAAGCAGCTGCTTGGAAGT 0.468 NA 164 19 0 0 0.00361 0 0 LRRFIP2 9209 broad.mit.edu 37 3 37170591 37170591 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:37170591T>A uc003cgp.2 - 4 563 c.140A>T c.(139-141)GAT>GTT p.D47V LRRFIP2_uc011ayf.1_Missense_Mutation_p.D47V|LRRFIP2_uc003cgr.2_Missense_Mutation_p.D47V|LRRFIP2_uc003cgs.3_Missense_Mutation_p.D47V|LRRFIP2_uc003cgt.3_Missense_Mutation_p.D47V NM_006309 NP_006300 Q9Y608 LRRF2_HUMAN leucine rich repeat (in FLII) interacting 47 DVL3-binding.|Potential. Wnt receptor signaling pathway LRR domain binding ovary(1) 1 CATGCGTATATCTCTTGCTTC 0.413 NA 100 20 0 0 0.00361 0 0 C3orf35 339883 broad.mit.edu 37 3 37458927 37458927 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:37458927G>T uc003cha.3 + 5 834 c.170G>T c.(169-171)GGC>GTC p.G57V C3orf35_uc003chb.2_Missense_Mutation_p.G57V NM_178339 NP_848029 Q8IVJ8 APRG1_HUMAN AP20 region protein isoform B 57 integral to membrane central_nervous_system(1) 1 GAGCAGATGGGCCTGCAGGGC 0.453 NA 50 8 3.39706e-21 5.12873e-21 0.00361 1 0 OXSR1 9943 broad.mit.edu 37 3 38266060 38266060 + Splice_Site SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:38266060A>G uc003chy.2 + 8 1045 c.703_splice c.e8-2 p.V235_splice OXSR1_uc010hhb.2_Splice_Site_p.V169_splice|OXSR1_uc010hha.1_Splice_Site_p.V167_splice NM_005109 NP_005100 O95747 OXSR1_HUMAN oxidative-stress responsive 1 intracellular protein kinase cascade|response to oxidative stress ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) AAATTCTTGCAGGTTTTAATG 0.264 NA 41 6 0 0 0.009718 0 0 SCN5A 6331 broad.mit.edu 37 3 38592067 38592067 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:38592067C>A uc003cio.2 - 28 5990 c.5796G>T c.(5794-5796)GCG>GCT p.A1932A SCN5A_uc003cin.2_Silent_p.A1931A|SCN5A_uc003cil.3_Silent_p.A1932A|SCN5A_uc010hhi.2_Silent_p.A1914A|SCN5A_uc010hhk.2_Silent_p.A1899A|SCN5A_uc011ayr.1_Silent_p.A1878A NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 1932 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GGCCGCTGCCCGCCTGCTGAC 0.622 NA 48 12 1.00953e-15 1.37495e-15 0.003214 1 0 SCN10A 6336 broad.mit.edu 37 3 38766770 38766770 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:38766770G>T uc003ciq.2 - 17 3123 c.3123C>A c.(3121-3123)GAC>GAA p.D1041E NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 1041 sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GTGTCAGGTGGTCCCCACACC 0.577 NA 34 4 5.8336e-16 7.97892e-16 0.003271 1 0 ZNF445 353274 broad.mit.edu 37 3 44488673 44488673 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:44488673C>A uc003cnf.2 - 8 2838 c.2490G>T c.(2488-2490)GAG>GAT p.E830D ZNF445_uc011azv.1_Missense_Mutation_p.E818D|ZNF445_uc011azw.1_Missense_Mutation_p.E830D NM_181489 NP_852466 P59923 ZN445_HUMAN zinc finger protein 445 830 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) GGATTTTTGGCTCCACATTTG 0.403 NA 85 18 1.52804e-57 2.81987e-57 0.00361 1 0 DHX30 22907 broad.mit.edu 37 3 47890012 47890012 + Silent SNP C C T rs79236789 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:47890012C>T uc003cru.2 + 16 2973 c.2547C>T c.(2545-2547)GAC>GAT p.D849D DHX30_uc003crt.2_Silent_p.D810D|MIR1226_hsa-mir-1226|MI0006313_5'Flank NM_138615 NP_619520 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 30 849 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) AGGCAGTGGACGAGGCTGTGA 0.527 NA 46 103 0 0 0.00361 0 0 USP19 10869 broad.mit.edu 37 3 49148462 49148462 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:49148462C>A uc003cwd.1 - 22 3318 c.3157G>T c.(3157-3159)GCC>TCC p.A1053S USP19_uc003cwa.2_Missense_Mutation_p.A861S|USP19_uc003cvz.3_Missense_Mutation_p.A1156S|USP19_uc011bcg.1_Missense_Mutation_p.A1144S|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Missense_Mutation_p.A811S|USP19_uc011bch.1_Missense_Mutation_p.A1154S NM_006677 NP_006668 O94966 UBP19_HUMAN ubiquitin thioesterase 19 1053 Cytoplasmic (Potential). ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(4)|breast(2)|lung(1) 7 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CCGGCCCGGGCAGCCTCACCG 0.622 NA 60 11 1.19403e-26 1.9276e-26 0.00361 1 0 HYAL1 3373 broad.mit.edu 37 3 50338129 50338129 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:50338129C>T uc003czp.2 - 4 1225 c.1093G>A c.(1093-1095)GGC>AGC p.G365S HYAL3_uc003czc.1_5'Flank|HYAL3_uc003czd.1_5'Flank|HYAL3_uc003cze.1_5'Flank|HYAL3_uc003czf.1_5'Flank|HYAL3_uc003czg.1_5'Flank|NAT6_uc003czi.2_5'Flank|NAT6_uc003czj.2_5'Flank|NAT6_uc003czk.3_5'Flank|NAT6_uc003czl.1_5'Flank|HYAL1_uc003czm.2_Missense_Mutation_p.G183S|HYAL1_uc003czo.2_Missense_Mutation_p.G106S|HYAL1_uc003czq.2_Missense_Mutation_p.G335S|HYAL1_uc003czr.2_Missense_Mutation_p.G365S|HYAL1_uc003czn.2_Missense_Mutation_p.G26S|HYAL1_uc003czs.2_Missense_Mutation_p.G365S|HYAL1_uc003czt.2_3'UTR NM_033159 NP_149349 Q12794 HYAL1_HUMAN hyaluronoglucosaminidase 1 isoform 1 365 EGF-like. extracellular space|lysosome hyalurononglucosaminidase activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) Hyaluronidase(DB00070) CGGCCATGGCCGGAGCACAGG 0.617 NA 15 3 0 0 0.00245 0 0 PARP3 10039 broad.mit.edu 37 3 51979203 51979203 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:51979203C>A uc003dby.2 + 6 1195 c.824C>A c.(823-825)TCC>TAC p.S275Y PARP3_uc003dbz.2_Missense_Mutation_p.S282Y NM_005485 NP_005476 Q9Y6F1 PARP3_HUMAN poly (ADP-ribose) polymerase family, member 3 275 PARP alpha-helical. DNA repair|protein ADP-ribosylation centriole|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CCCATCAATTCCCCTGAGCTT 0.642 NA 66 18 1.19759e-16 1.65675e-16 0.00361 1 0 FLNB 2317 broad.mit.edu 37 3 58140568 58140568 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:58140568G>T uc003djj.2 + 40 6850 c.6685G>T c.(6685-6687)GCT>TCT p.A2229S FLNB_uc010hne.2_Missense_Mutation_p.A2260S|FLNB_uc003djk.2_Missense_Mutation_p.A2218S|FLNB_uc010hnf.2_Missense_Mutation_p.A2205S|FLNB_uc003djl.2_Missense_Mutation_p.A2049S|FLNB_uc003djm.2_Missense_Mutation_p.A2036S NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 2229 Interaction with INPPL1.|Filamin 21. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CCTCTCCATCGCTGTTGAGGG 0.537 NA 54 8 2.12129e-23 3.28468e-23 0.00361 1 0 CADPS 8618 broad.mit.edu 37 3 62860663 62860663 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:62860663G>C uc003dll.2 - 1 402 c.42C>G c.(40-42)ATC>ATG p.I14M CADPS_uc003dlm.2_Missense_Mutation_p.I14M|CADPS_uc003dln.2_Missense_Mutation_p.I14M NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 14 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding central_nervous_system(2)|ovary(1) 3 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) CCTCCTCCACGATCTCATCCG 0.706 NA 7 2 0 0 0.00308 0 0 C3orf64 285203 broad.mit.edu 37 3 69058943 69058943 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:69058943G>C uc003dnl.2 - 4 460 c.55C>G c.(55-57)CAG>GAG p.Q19E C3orf64_uc003dnk.2_Missense_Mutation_p.Q19E|C3orf64_uc011bfw.1_RNA|C3orf64_uc003dnm.1_RNA NM_173654 NP_775925 Q5NDL2 AER61_HUMAN AER61 glycosyltransferase 19 extracellular region transferase activity, transferring glycosyl groups ovary(1) 1 Lung NSC(201;0.126) BRCA - Breast invasive adenocarcinoma(55;4.61e-05)|Epithelial(33;0.000291)|LUSC - Lung squamous cell carcinoma(21;0.0127)|KIRC - Kidney renal clear cell carcinoma(39;0.216) GCTTCATTCTGACCACTCAGT 0.428 NA 24 3 0 0 0.004656 0 0 LMOD3 56203 broad.mit.edu 37 3 69168080 69168080 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:69168080G>A uc003dns.2 - 2 1635 c.1426C>T c.(1426-1428)CCG>TCG p.P476S LMOD3_uc003dnt.2_Missense_Mutation_p.P476S NM_198271 NP_938012 Q0VAK6 LMOD3_HUMAN leiomodin 3 (fetal) 476 cytoplasm|cytoskeleton tropomyosin binding ovary(1) 1 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24) CTGTACTTCGGGGCCTGCGAT 0.552 NA 26 9 0 0 0.003954 0 0 PDZRN3 23024 broad.mit.edu 37 3 73657747 73657747 + Splice_Site SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:73657747A>G uc003dpl.1 - 2 906 c.810_splice c.e2+1 p.V270_splice NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) TAATTAACATACCACACTCGG 0.478 NA 5 3 0 0 0.001168 0 0 EPHA3 2042 broad.mit.edu 37 3 89390085 89390085 + Nonsense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:89390085C>A uc003dqy.2 + 4 1059 c.834C>A c.(832-834)TAC>TAA p.Y278* EPHA3_uc003dqx.1_Nonsense_Mutation_p.Y278*|EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 278 Extracellular (Potential).|Cys-rich. extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CAGGTTTCTACAAGGCATTGG 0.363 NA TSP Lung(6;0.00050) 58 15 1.14385e-22 1.75433e-22 0.00361 1 0 PROS1 5627 broad.mit.edu 37 3 93603583 93603583 + Missense_Mutation SNP T T G rs5017713 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:93603583T>G uc003drb.3 - 12 1822 c.1481A>C c.(1480-1482)CAC>CCC p.H494P PROS1_uc010hoo.2_Missense_Mutation_p.H363P|PROS1_uc003dqz.3_Missense_Mutation_p.H363P NM_000313 NP_000304 P07225 PROS_HUMAN protein S, alpha preproprotein 494 Laminin G-like 2. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity large_intestine(1) 1 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) ATAATCTATGTGAAATTGAGC 0.274 NA 7 24 0 0 0.004482 0 0 COL8A1 1295 broad.mit.edu 37 3 99514012 99514012 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:99514012G>A uc003dtg.1 + 5 1512 c.1267G>A c.(1267-1269)GGG>AGG p.G423R COL8A1_uc003dth.1_Missense_Mutation_p.G423R|COL8A1_uc003dti.1_Missense_Mutation_p.G424R NM_001850 NP_001841 P27658 CO8A1_HUMAN alpha 1 type VIII collagen precursor 423 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII 0 AGGGCCACAGGGGCCACCAGG 0.607 NA 17 40 0 0 0.006122 0 0 ABI3BP 25890 broad.mit.edu 37 3 100621464 100621464 + Nonsense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:100621464G>T uc003dun.2 - 3 432 c.347C>A c.(346-348)TCA>TAA p.S116* ABI3BP_uc003duo.2_Nonsense_Mutation_p.S109*|ABI3BP_uc003dup.3_Nonsense_Mutation_p.S109* NM_015429 NP_056244 Q7Z7G0 TARSH_HUMAN ABI gene family, member 3 (NESH) binding protein 116 extracellular space ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1) 4 GACTATACCTGAACATGACTT 0.398 NA 7 11 2.0095e-06 2.2374e-06 0.001984 1 0 SENP7 57337 broad.mit.edu 37 3 101047391 101047391 + Splice_Site SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:101047391C>A uc003dut.2 - 22 2907 c.2796_splice c.e22-1 p.R932_splice SENP7_uc003duu.2_Splice_Site_p.R867_splice|SENP7_uc003duv.2_Splice_Site_p.R899_splice|SENP7_uc003duw.2_Splice_Site_p.R866_splice|SENP7_uc003dux.2_Splice_Site_p.R768_splice|SENP7_uc003dus.2_Splice_Site_p.R120_splice NM_020654 NP_065705 Q9BQF6 SENP7_HUMAN sentrin/SUMO-specific protease 7 isoform 1 proteolysis nucleus cysteine-type peptidase activity ovary(3)|lung(2) 5 AATACATGGCCTATGAAAAGC 0.318 NA 31 97 7.11191e-15 9.49891e-15 0.002836 1 0 CBLB 868 broad.mit.edu 37 3 105495359 105495359 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:105495359G>C uc003dwc.2 - 4 769 c.447C>G c.(445-447)ATC>ATG p.I149M CBLB_uc011bhi.1_Missense_Mutation_p.I171M|CBLB_uc003dwd.1_Missense_Mutation_p.I149M|CBLB_uc003dwe.1_Missense_Mutation_p.I149M|CBLB_uc011bhj.1_Intron NM_170662 NP_733762 Q13191 CBLB_HUMAN Cas-Br-M (murine) ecotropic retroviral 149 Cbl-PTB.|4H. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding lung(4)|ovary(3)|breast(1)|skin(1) 9 TGTGACTGAAGATAAGGGACA 0.373 GBM(93;588 1337 9788 29341 43499) NA Mis S AML 11 35 0 0 0.00245 0 0 CCDC54 84692 broad.mit.edu 37 3 107096857 107096857 + Silent SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:107096857A>G uc003dwi.1 + 1 670 c.423A>G c.(421-423)ACA>ACG p.T141T NM_032600 NP_115989 Q8NEL0 CCD54_HUMAN coiled-coil domain containing 54 141 Potential. 0 AGAAGGTGACAGAACTGGAAA 0.383 NA 11 36 0 0 0.008291 0 0 DZIP3 9666 broad.mit.edu 37 3 108363525 108363525 + Missense_Mutation SNP G G T rs145724685 by1000genomes TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:108363525G>T uc003dxd.2 + 14 2078 c.1656G>T c.(1654-1656)GAG>GAT p.E552D DZIP3_uc003dxf.1_Missense_Mutation_p.E552D|DZIP3_uc011bhm.1_Missense_Mutation_p.E3D|DZIP3_uc003dxe.1_Missense_Mutation_p.E552D|DZIP3_uc003dxg.1_Missense_Mutation_p.E275D NM_014648 NP_055463 Q86Y13 DZIP3_HUMAN DAZ interacting protein 3, zinc finger 552 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 AAGTGAAGGAGAATCCCATTG 0.403 NA 25 58 1.1804e-14 1.57224e-14 0.003954 1 0 CD96 10225 broad.mit.edu 37 3 111343206 111343206 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:111343206G>T uc003dxw.2 + 11 1494 c.1324G>T c.(1324-1326)GGC>TGC p.G442C CD96_uc003dxx.2_Missense_Mutation_p.G426C|CD96_uc010hpy.1_Missense_Mutation_p.G426C NM_198196 NP_937839 P40200 TACT_HUMAN CD96 antigen isoform 1 precursor 442 Extracellular (Potential).|Pro/Ser/Thr-rich. cell adhesion|immune response|regulation of immune response integral to plasma membrane skin(2)|central_nervous_system(1) 3 GACTACCCGAGGCTTCAACTA 0.388 NA Opitz_Trigonocephaly_syndrome 22 15 9.95505e-16 1.35681e-15 0.002299 1 0 GCET2 257144 broad.mit.edu 37 3 111845856 111845856 + Missense_Mutation SNP C C A rs150928109 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:111845856C>A uc003dys.1 - 4 318 c.168G>T c.(166-168)AAG>AAT p.K56N C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron|GCET2_uc003dyt.1_5'UTR NM_152785 NP_689998 Q8N6F7 GCET2_HUMAN germinal center expressed transcript 2 isoform 56 mitochondrion 0 AATCTTGCCTCTTTTCAAAAA 0.269 NA 12 23 1.49906e-05 1.63796e-05 0.00245 1 0 WDR52 55779 broad.mit.edu 37 3 113125860 113125860 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:113125860C>T uc003eae.1 - 8 965 c.919G>A c.(919-921)GGT>AGT p.G307S NM_018338 NP_060808 Q96MT7 WDR52_HUMAN WD repeat domain 52 isoform 2 307 WD 2. central_nervous_system(1) 1 AGCTTGAGACCGGTGAACGTA 0.403 NA 38 34 0 0 0.002522 0 0 GRAMD1C 54762 broad.mit.edu 37 3 113563455 113563455 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:113563455G>T uc003eaq.3 + 2 209 c.133G>T c.(133-135)GGG>TGG p.G45W GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_RNA NM_017577 NP_060047 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 45 integral to membrane ovary(2)|skin(1) 3 TAAAAAACAGGGGCCAAATTT 0.363 NA 41 33 1.62957e-23 2.5314e-23 0.00874 1 0 ZNF80 7634 broad.mit.edu 37 3 113955588 113955588 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:113955588T>C uc010hqo.2 - 1 838 c.334A>G c.(334-336)AAG>GAG p.K112E ZNF80_uc003ebf.2_RNA NM_007136 NP_009067 P51504 ZNF80_HUMAN zinc finger protein 80 112 C2H2-type 3; atypical. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Lung NSC(201;0.0233)|all_neural(597;0.0837) TTGAAGACCTTCCCGCACTCC 0.547 GBM(23;986 1114 21716) NA 16 29 0 0 0.007413 0 0 TIGIT 201633 broad.mit.edu 37 3 114018486 114018486 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:114018486C>A uc003ebg.1 + 3 468 c.434C>A c.(433-435)GCC>GAC p.A145D NM_173799 NP_776160 Q495A1 TIGIT_HUMAN T cell immunoreceptor with Ig and ITIM domains 145 Helical; (Potential). negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production cell surface|integral to membrane|plasma membrane protein binding central_nervous_system(1) 1 TTGCTTGGAGCCATGGCCGCG 0.572 NA 14 52 5.01169e-05 5.42396e-05 0.00499 1 0 ZBTB20 26137 broad.mit.edu 37 3 114070047 114070047 + Missense_Mutation SNP T T G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:114070047T>G uc003ebi.2 - 4 1058 c.878A>C c.(877-879)GAG>GCG p.E293A ZBTB20_uc003ebj.2_Missense_Mutation_p.E220A|ZBTB20_uc010hqp.2_Missense_Mutation_p.E220A|ZBTB20_uc003ebk.2_Missense_Mutation_p.E220A|ZBTB20_uc003ebl.2_Missense_Mutation_p.E220A|ZBTB20_uc003ebm.2_Missense_Mutation_p.E220A|ZBTB20_uc003ebn.2_Missense_Mutation_p.E220A|uc003ebo.1_5'Flank NM_015642 NP_056457 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 isoform 293 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) CTGCGAGCGCTCATGGATGCG 0.657 NSCLC(69;748 1344 9802 11203 30933) NA 64 31 0 0 0.00361 0 0 LSAMP 4045 broad.mit.edu 37 3 115561343 115561343 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:115561343C>T uc003ebt.2 - 5 1232 c.732G>A c.(730-732)GTG>GTA p.V244V LSAMP_uc011bis.1_Silent_p.V244V NM_002338 NP_002329 Q13449 LSAMP_HUMAN limbic system-associated membrane protein 244 Ig-like C2-type 3. cell adhesion|nervous system development anchored to membrane|plasma membrane 0 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) CAGGTGCAGGCACTGCCGAGG 0.547 NA 22 22 0 0 0.00333 0 0 IGSF11 152404 broad.mit.edu 37 3 118623535 118623535 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:118623535T>A uc003ebw.2 - 6 1061 c.814A>T c.(814-816)AAT>TAT p.N272Y IGSF11_uc011biv.1_Missense_Mutation_p.N244Y|IGSF11_uc003ebx.2_Missense_Mutation_p.N248Y|IGSF11_uc003eby.2_Missense_Mutation_p.N271Y|IGSF11_uc003ebz.2_Missense_Mutation_p.N247Y|IGSF11_uc010hqs.2_Missense_Mutation_p.N271Y NM_001015887 NP_001015887 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 isoform b 272 Cytoplasmic (Potential). cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity 0 TCCTCTTTATTTTTGCTTCTC 0.343 NA 49 251 0 0 0.00361 0 0 IGSF11 152404 broad.mit.edu 37 3 118623538 118623538 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:118623538T>C uc003ebw.2 - 6 1058 c.811A>G c.(811-813)AAA>GAA p.K271E IGSF11_uc011biv.1_Missense_Mutation_p.K243E|IGSF11_uc003ebx.2_Missense_Mutation_p.K247E|IGSF11_uc003eby.2_Missense_Mutation_p.K270E|IGSF11_uc003ebz.2_Missense_Mutation_p.K246E|IGSF11_uc010hqs.2_Missense_Mutation_p.K270E NM_001015887 NP_001015887 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 isoform b 271 Cytoplasmic (Potential). cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity 0 TCTTTATTTTTGCTTCTCCAG 0.353 NA 225 78 0 0 0.00361 0 0 PLA1A 51365 broad.mit.edu 37 3 119336897 119336897 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:119336897G>T uc003ecu.2 + 7 825 c.786G>T c.(784-786)AGG>AGT p.R262S PLA1A_uc003ecv.2_Missense_Mutation_p.R246S|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_Missense_Mutation_p.R89S NM_015900 NP_056984 Q53H76 PLA1A_HUMAN phospholipase A1 member A precursor 262 lipid catabolic process|phosphatidylserine metabolic process extracellular region phospholipase A1 activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 ATCACATGAGGGCTGTGCACC 0.468 NA 220 112 7.99439e-90 1.50988e-89 0.00361 1 0 GTF2E1 2960 broad.mit.edu 37 3 120500084 120500084 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:120500084G>T uc003edz.3 + 5 1201 c.1087G>T c.(1087-1089)GAT>TAT p.D363Y NM_005513 NP_005504 P29083 T2EA_HUMAN general transcription factor IIE, polypeptide 1, 363 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.159) TGAGTCAGATGATGATTCTCC 0.532 NA 73 56 4.98926e-31 8.38334e-31 0.00361 1 0 POLQ 10721 broad.mit.edu 37 3 121151258 121151258 + Nonsense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:121151258G>A uc003eee.3 - 30 7795 c.7666C>T c.(7666-7668)CAG>TAG p.Q2556* POLQ_uc003eed.2_Nonsense_Mutation_p.Q1728* NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 2556 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) TTGACAATCTGAGCTACCTAA 0.398 Pancreas(152;907 1925 26081 31236 36904) NA DNA_polymerases_(catalytic_subunits) 24 17 0 0 0.002299 0 0 SLC15A2 6565 broad.mit.edu 37 3 121643199 121643199 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:121643199G>C uc003eep.2 + 12 1157 c.1004G>C c.(1003-1005)GGG>GCG p.G335A SLC15A2_uc011bjn.1_Missense_Mutation_p.G304A NM_021082 NP_066568 Q16348 S15A2_HUMAN peptide transporter 2 isoform a 335 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding skin(1) 1 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) ATGTTTCAGGGGTTTTTTGTG 0.368 NA 36 109 0 0 0.007835 0 0 CD86 942 broad.mit.edu 37 3 121822511 121822511 + Nonsense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:121822511G>T uc003eet.2 + 3 333 c.217G>T c.(217-219)GAG>TAG p.E73* CD86_uc011bjo.1_5'UTR|CD86_uc011bjp.1_Intron|CD86_uc003eeu.2_Nonsense_Mutation_p.E67* NM_175862 NP_787058 P42081 CD86_HUMAN CD86 antigen isoform 1 73 Ig-like V-type.|Extracellular (Potential). interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding pancreas(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) CTTAGGCAAAGAGAAATTTGA 0.428 GBM(67;1379 1389 36064 39806) NA 17 72 1.67942e-08 1.97446e-08 0.006122 1 0 CASR 846 broad.mit.edu 37 3 121976194 121976194 + Missense_Mutation SNP C C A rs104893694 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:121976194C>A uc003eev.3 + 3 824 c.452C>A c.(451-453)ACG>AAG p.T151K CASR_uc003eew.3_Missense_Mutation_p.T151K NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 151 Extracellular (Potential). T -> M (in FIH; there is a shift in the dose-response curve so that the extracellular calcium concentration needed to produce half-maximal increase in total inositol phosphate in the cells is significantly lower than the one required for the wild-type receptor). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(2)|upper_aerodigestive_tract(1) 7 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) GGCGTCTCCACGGCAGTGGCA 0.542 NA 39 29 1.30998e-17 1.84928e-17 0.005524 1 0 KALRN 8997 broad.mit.edu 37 3 123987871 123987871 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:123987871G>T uc003ehg.2 + 5 859 c.732G>T c.(730-732)GAG>GAT p.E244D KALRN_uc010hrv.1_Missense_Mutation_p.E244D|KALRN_uc003ehf.1_Missense_Mutation_p.E244D|KALRN_uc011bjy.1_Missense_Mutation_p.E244D NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 244 Spectrin 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 CTGTGGAGGAGCTGGACCGGG 0.627 NA 15 10 4.14922e-12 5.25513e-12 0.004007 1 0 KALRN 8997 broad.mit.edu 37 3 124356145 124356145 + Missense_Mutation SNP A A C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:124356145A>C uc003ehg.2 + 37 5783 c.5656A>C c.(5656-5658)AAG>CAG p.K1886Q KALRN_uc003ehi.2_Intron|KALRN_uc003ehk.2_Missense_Mutation_p.K189Q|KALRN_uc011bjz.1_5'UTR|KALRN_uc003ehj.2_Intron NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 1885 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 GGTCAAAAACAAGCTGGTAAG 0.522 NA 60 48 0 0 0.00361 0 0 UMPS 7372 broad.mit.edu 37 3 124461062 124461062 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:124461062A>T uc003ehl.3 + 5 1328 c.1222A>T c.(1222-1224)ATG>TTG p.M408L UMPS_uc003ehm.3_RNA|UMPS_uc011bka.1_Missense_Mutation_p.M230L|UMPS_uc011bkb.1_Missense_Mutation_p.M316L|UMPS_uc011bkc.1_Missense_Mutation_p.M230L|UMPS_uc003ehn.3_Missense_Mutation_p.M230L|UMPS_uc011bkd.1_Intron NM_000373 NP_000364 P11172 UMPS_HUMAN uridine monophosphate synthase 408 OMPdecase. 'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process cytosol|nucleus orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity kidney(1) 1 GBM - Glioblastoma multiforme(114;0.146) CCGAGTAAGCATGAAACCAGA 0.408 NA 80 89 0 0 0.00361 0 0 MUC13 56667 broad.mit.edu 37 3 124646687 124646687 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:124646687G>T uc003ehq.1 - 2 227 c.203C>A c.(202-204)CCT>CAT p.P68H NM_033049 NP_149038 Q9H3R2 MUC13_HUMAN mucin 13, epithelial transmembrane 68 Thr-rich.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane 0 GGGGGGAGCAGGTGAAGTAGC 0.453 NA 58 187 4.88506e-25 7.75037e-25 0.00361 1 0 HEG1 57493 broad.mit.edu 37 3 124746174 124746174 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:124746174A>T uc003ehs.3 - 3 856 c.788T>A c.(787-789)CTT>CAT p.L263H HEG1_uc011bke.1_Missense_Mutation_p.L263H NM_020733 NP_065784 Q9ULI3 HEG1_HUMAN HEG homolog 1 precursor 263 Extracellular (Potential). extracellular region|integral to membrane calcium ion binding ovary(2) 2 CAAAGCAGGAAGAAAGGACGG 0.562 NA 18 8 0 0 0.002299 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125844477 125844477 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:125844477C>A uc003eim.1 - 15 1972 c.1782G>T c.(1780-1782)GTG>GTT p.V594V ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Silent_p.V493V NM_012190 NP_036322 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 594 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) GCTTGATCACCACTGTGTTCC 0.572 NA 15 57 4.7546e-09 5.65871e-09 0.004007 1 0 RPN1 6184 broad.mit.edu 37 3 128345673 128345673 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:128345673C>G uc003ekr.1 - 6 1115 c.1039G>C c.(1039-1041)GAC>CAC p.D347H RPN1_uc011bkq.1_Missense_Mutation_p.D175H NM_002950 NP_002941 P04843 RPN1_HUMAN ribophorin I precursor 347 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(114;0.189) GCATACTGGTCACCTGAAGGA 0.453 NA T EVI1 AML 13 40 0 0 0.00245 0 0 COL29A1 256076 broad.mit.edu 37 3 130188172 130188172 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:130188172G>T uc010htj.1 + 38 7818 c.7324G>T c.(7324-7326)GTG>TTG p.V2442L COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_Missense_Mutation_p.V481L NM_153264 NP_694996 A8TX70 CO6A5_HUMAN collagen, type XXIX, alpha 1 2442 VWFA 10.|Nonhelical region. axon guidance|cell adhesion collagen 0 CTCCATATTTGTGTTTTCCTT 0.438 NA 16 32 6.72482e-11 8.32105e-11 0.003163 1 0 COL6A6 131873 broad.mit.edu 37 3 130284285 130284285 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:130284285C>T uc010htl.2 + 3 1140 c.1109C>T c.(1108-1110)GCC>GTC p.A370V NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 370 Nonhelical region.|VWFA 2. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 ATAGAGGGCGCCAGCGACACC 0.547 NA 43 85 0 0 0.009718 0 0 MRPL3 11222 broad.mit.edu 37 3 131181700 131181700 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:131181700G>A uc003eoh.2 - 10 1078 c.914C>T c.(913-915)CCT>CTT p.P305L MRPL3_uc011blo.1_Missense_Mutation_p.P200L|MRPL3_uc011blp.1_Missense_Mutation_p.P332L NM_007208 NP_009139 P09001 RM03_HUMAN mitochondrial ribosomal protein L3 305 translation mitochondrial large ribosomal subunit RNA binding|structural constituent of ribosome 0 CTTATATGCAGGCAGTTTAGA 0.348 NA 28 21 0 0 0.002445 0 0 MRPL3 11222 broad.mit.edu 37 3 131208896 131208896 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:131208896C>A uc003eoh.2 - 5 661 c.497G>T c.(496-498)CGG>CTG p.R166L MRPL3_uc011blo.1_Missense_Mutation_p.R61L|MRPL3_uc011blp.1_Missense_Mutation_p.R193L NM_007208 NP_009139 P09001 RM03_HUMAN mitochondrial ribosomal protein L3 166 translation mitochondrial large ribosomal subunit RNA binding|structural constituent of ribosome 0 TCCAAGTTCCCGGTAAAATTC 0.363 NA 15 15 8.60227e-14 1.12183e-13 0.004007 1 0 TF 7018 broad.mit.edu 37 3 133485178 133485178 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:133485178C>A uc003epu.1 + 17 3115 c.1387C>A c.(1387-1389)CTG>ATG p.L463M TF_uc011blt.1_Missense_Mutation_p.L336M|TF_uc003epw.1_Intron|TF_uc003epv.1_Missense_Mutation_p.L463M NM_001063 NP_001054 P02787 TRFE_HUMAN transferrin precursor 463 Transferrin-like 2. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding ovary(1)|skin(1) 2 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) CTGGGACAATCTGAAAGGCAA 0.488 NA 65 139 7.82978e-24 1.22218e-23 0.00361 1 0 EPHB1 2047 broad.mit.edu 37 3 134967287 134967287 + Missense_Mutation SNP A A C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:134967287A>C uc003eqt.2 + 14 2846 c.2626A>C c.(2626-2628)AAC>CAC p.N876H EPHB1_uc003equ.2_Missense_Mutation_p.N437H NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 876 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 GGAGATTGTCAACACCCTAGA 0.567 NA 7 30 0 0 0.001984 0 0 A4GNT 51146 broad.mit.edu 37 3 137843458 137843458 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:137843458C>A uc003ers.2 - 3 873 c.671G>T c.(670-672)GGC>GTC p.G224V NM_016161 NP_057245 Q9UNA3 A4GCT_HUMAN alpha-1,4-N-acetylglucosaminyltransferase 224 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|Golgi stack|integral to membrane|membrane fraction acetylglucosaminyltransferase activity|galactosyltransferase activity central_nervous_system(1) 1 CAACTCAGGGCCTTGGTTGCC 0.468 NA 21 83 8.34094e-07 9.35694e-07 0.008871 1 0 PRR23B 389151 broad.mit.edu 37 3 138738889 138738889 + Silent SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:138738889A>G uc003esy.1 - 1 880 c.615T>C c.(613-615)AGT>AGC p.S205S NM_001013650 NP_001013672 Q6ZRT6 PR23B_HUMAN proline rich 23B 205 Pro-rich. breast(1) 1 GTCTCTCTGAACTGGGGTTGG 0.627 NA 20 47 0 0 0.010504 0 0 COPB2 9276 broad.mit.edu 37 3 139087022 139087022 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:139087022C>T uc003etf.3 - 13 1640 c.1510G>A c.(1510-1512)GGA>AGA p.G504R COPB2_uc011bmv.1_Missense_Mutation_p.G475R|COPB2_uc010hui.2_Missense_Mutation_p.G475R NM_004766 NP_004757 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta 504 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity ovary(2) 2 TCAGTAACTCCCTCATGTGTT 0.383 NA 11 50 0 0 0.001855 0 0 COPB2 9276 broad.mit.edu 37 3 139098004 139098004 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:139098004C>T uc003etf.3 - 4 370 c.240G>A c.(238-240)CAG>CAA p.Q80Q COPB2_uc011bmv.1_Silent_p.Q51Q|COPB2_uc010hui.2_Silent_p.Q51Q|COPB2_uc011bmw.1_Silent_p.Q80Q NM_004766 NP_004757 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta 80 WD 2. COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity ovary(2) 2 ACACTCTAATCTGCATGTCAT 0.353 NA 10 19 0 0 0.006214 0 0 CLSTN2 64084 broad.mit.edu 37 3 140185544 140185544 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:140185544C>A uc003etn.2 + 8 1505 c.1315C>A c.(1315-1317)CCC>ACC p.P439T CLSTN2_uc003etm.2_Missense_Mutation_p.P439T NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 439 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 CACCTTTCGCCCCGCGGAGTT 0.562 GBM(45;858 913 3709 36904 37282) NA HNSCC(16;0.037) 15 39 1.5739e-10 1.93387e-10 0.004007 1 0 CLSTN2 64084 broad.mit.edu 37 3 140251199 140251199 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:140251199A>T uc003etn.2 + 9 1568 c.1378A>T c.(1378-1380)AAT>TAT p.N460Y CLSTN2_uc003etm.2_Missense_Mutation_p.N460Y NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 460 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 CTATGTCATCAATGTGGAGTT 0.383 GBM(45;858 913 3709 36904 37282) NA HNSCC(16;0.037) 54 47 0 0 0.00361 0 0 RASA2 5922 broad.mit.edu 37 3 141272715 141272715 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:141272715G>T uc003etz.1 + 6 544 c.544G>T c.(544-546)GGG>TGG p.G182W RASA2_uc010huq.1_Missense_Mutation_p.G182W|RASA2_uc003eua.1_Missense_Mutation_p.G182W|RASA2_uc011bnc.1_5'UTR NM_006506 NP_006497 Q15283 RASA2_HUMAN RAS p21 protein activator 2 182 C2 2. intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm metal ion binding|Ras GTPase activator activity ovary(2)|lung(2)|breast(1)|skin(1) 6 GGCATGCCATGGGTTGCCTCT 0.323 NA 27 76 7.16026e-08 8.3071e-08 0.002445 1 0 ATR 545 broad.mit.edu 37 3 142232433 142232433 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:142232433C>T uc003eux.3 - 26 4673 c.4551G>A c.(4549-4551)ATG>ATA p.M1517I NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 1517 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 CATGCTTCATCATAATGCTAC 0.363 NA Other_conserved_DNA_damage_response_genes 10 27 0 0 0.006214 0 0 ATR 545 broad.mit.edu 37 3 142281082 142281082 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:142281082C>T uc003eux.3 - 4 1284 c.1162G>A c.(1162-1164)GAT>AAT p.D388N NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 388 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 ACCTCTGCATCTACCTCAATT 0.313 NA Other_conserved_DNA_damage_response_genes 6 31 0 0 0.001984 0 0 PLSCR4 57088 broad.mit.edu 37 3 145924363 145924363 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:145924363C>A uc010huy.2 - 4 633 c.304G>T c.(304-306)GGG>TGG p.G102W PLSCR4_uc010huz.2_Missense_Mutation_p.G102W|PLSCR4_uc003evt.3_Missense_Mutation_p.G102W|PLSCR4_uc010hva.2_Missense_Mutation_p.G102W|PLSCR4_uc003evu.3_Missense_Mutation_p.G87W NM_001128305 NP_001121777 Q9NRQ2 PLS4_HUMAN phospholipid scramblase 4 isoform a 102 SH3-binding 3 (Potential).|Cytoplasmic (By similarity). blood coagulation|phospholipid scrambling integral to membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding 0 GGAGTTGGCCCTGGCATCCAT 0.448 NA 49 51 1.4374e-25 2.28989e-25 0.00361 1 0 PLSCR4 57088 broad.mit.edu 37 3 145924375 145924375 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:145924375T>A uc010huy.2 - 4 621 c.292A>T c.(292-294)ACA>TCA p.T98S PLSCR4_uc010huz.2_Missense_Mutation_p.T98S|PLSCR4_uc003evt.3_Missense_Mutation_p.T98S|PLSCR4_uc010hva.2_Missense_Mutation_p.T98S|PLSCR4_uc003evu.3_Missense_Mutation_p.T83S NM_001128305 NP_001121777 Q9NRQ2 PLS4_HUMAN phospholipid scramblase 4 isoform a 98 SH3-binding 3 (Potential).|Cytoplasmic (By similarity). blood coagulation|phospholipid scrambling integral to membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding 0 GGCATCCATGTTATTGGAACA 0.453 NA 29 67 0 0 0.002096 0 0 PLSCR5 389158 broad.mit.edu 37 3 146318153 146318153 + Silent SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:146318153T>A uc003ewb.2 - 2 1115 c.111A>T c.(109-111)GCA>GCT p.A37A PLSCR5_uc010hvb.2_Silent_p.A37A|PLSCR5_uc010hvc.2_Silent_p.A37A NM_001085420 NP_001078889 A0PG75 PLS5_HUMAN phospholipid scramblase family, member 5 37 0 TCAGCTGCCATGCTTGGTTCC 0.502 NA 5 11 0 0 0.000602 0 0 ZIC4 84107 broad.mit.edu 37 3 147108855 147108855 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:147108855C>A uc003ewd.1 - 4 1140 c.867G>T c.(865-867)GGG>GGT p.G289G ZIC4_uc003ewc.1_Silent_p.G219G|ZIC4_uc011bno.1_Silent_p.G339G NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 289 nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 GCGGCGAGCGCCCGTGCACCT 0.662 NA 14 53 0.000308642 0.000326004 0.003163 1 0 ZIC1 7545 broad.mit.edu 37 3 147131139 147131139 + Splice_Site SNP A A C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:147131139A>C uc003ewe.2 + 3 1866 c.1147_splice c.e3-2 p.V383_splice NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 TTATTCCTGCAGGTCCACGAA 0.632 NA 12 59 0 0 0.000978 0 0 COMMD2 51122 broad.mit.edu 37 3 149470067 149470067 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:149470067G>A uc003exk.2 - 2 122 c.75C>T c.(73-75)GCC>GCT p.A25A NM_016094 NP_057178 Q86X83 COMD2_HUMAN COMM domain containing 2 25 protein binding 0 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) GCCCAAACTCGGCGACCACTG 0.617 NA 77 54 0 0 0.00361 0 0 P2RY14 9934 broad.mit.edu 37 3 150931951 150931952 + Missense_Mutation DNP TG TG CT TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:150931951_150931952TG>CT uc003eyr.1 - 3 631_632 c.153_154CA>AG c.(151-156)CCCAGC>CCAGGC p.S52G MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY14_uc003eys.1_Missense_Mutation_p.S52G NM_001081455 NP_001074924 Q15391 P2Y14_HUMAN P2Y14 receptor 52 Cytoplasmic (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity large_intestine(2)|ovary(1)|lung(1) 4 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CTCTTAGAGCTGGGCACGTAAA 0.436 NA 43 38 0 0 0.004672 0 0 MED12L 116931 broad.mit.edu 37 3 151105894 151105894 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:151105894C>T uc003eyp.2 + 35 5318 c.5280C>T c.(5278-5280)ACC>ACT p.T1760T MED12L_uc011bnz.1_Silent_p.T1620T|MED12L_uc003eyy.1_Silent_p.T923T NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 1760 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AGGGAAAAACCACAACAGATG 0.488 NA 16 13 0 0 0.004007 0 0 SLITRK3 22865 broad.mit.edu 37 3 164907028 164907028 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:164907028G>C uc003fej.3 - 2 2035 c.1591C>G c.(1591-1593)CGG>GGG p.R531G SLITRK3_uc003fek.2_Missense_Mutation_p.R531G NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 531 Extracellular (Potential).|LRR 12. integral to membrane ovary(6)|skin(3)|pancreas(1) 10 AGGTTGAGCCGGGCCAGGGAT 0.507 NA HNSCC(40;0.11) 8 26 0 0 0.004482 0 0 WDR49 151790 broad.mit.edu 37 3 167319990 167319990 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:167319990C>A uc003fev.1 - 3 483 c.177G>T c.(175-177)TGG>TGT p.W59C WDR49_uc011bpd.1_Missense_Mutation_p.W112C|WDR49_uc003few.1_Missense_Mutation_p.W400C NM_178824 NP_849146 Q8IV35 WDR49_HUMAN WD repeat domain 49 59 large_intestine(1)|ovary(1)|skin(1) 3 CTGAGTGGCCCCAAAGGACAC 0.373 NA 11 39 1.58986e-06 1.77324e-06 0.008291 1 0 GOLIM4 27333 broad.mit.edu 37 3 167747580 167747580 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:167747580T>A uc003ffe.2 - 10 1765 c.1421A>T c.(1420-1422)CAG>CTG p.Q474L GOLIM4_uc011bpe.1_Missense_Mutation_p.Q474L|GOLIM4_uc011bpf.1_Missense_Mutation_p.Q446L|GOLIM4_uc011bpg.1_Missense_Mutation_p.Q446L NM_014498 NP_055313 O00461 GOLI4_HUMAN golgi integral membrane protein 4 474 Glu-rich.|Gln-rich.|Lumenal (Potential). transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(4)|skin(1) 5 GAGCTGCTCCTGGTGCTGCGG 0.438 NA 28 37 0 0 0.009535 0 0 PRKCI 5584 broad.mit.edu 37 3 170009707 170009707 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:170009707A>T uc003fgs.2 + 13 1507 c.1269A>T c.(1267-1269)GAA>GAT p.E423D PRKCI_uc003fgt.2_5'UTR NM_002740 NP_002731 P41743 KPCI_HUMAN protein kinase C, iota 423 Protein kinase. anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport cytosol|endosome|nucleus|polarisome ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding lung(2)|ovary(1)|breast(1)|skin(1) 5 all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) TTGCTCCTGAAATTTTAAGAG 0.343 NA 19 19 0 0 0.010504 0 0 PLD1 5337 broad.mit.edu 37 3 171406666 171406666 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:171406666C>A uc003fhs.2 - 14 1455 c.1339G>T c.(1339-1341)GTG>TTG p.V447L PLD1_uc003fht.2_Missense_Mutation_p.V447L NM_002662 NP_002653 Q13393 PLD1_HUMAN phospholipase D1 isoform a 447 cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity ovary(2)|lung(1) 3 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) TGTCTCATCACCTTGAGAGGG 0.438 NSCLC(149;2174 3517 34058) NA 10 23 0.000673444 0.000705548 0.008291 1 0 NLGN1 22871 broad.mit.edu 37 3 173999053 173999053 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:173999053C>A uc003fio.1 + 7 2855 c.2432C>A c.(2431-2433)CCC>CAC p.P811H NLGN1_uc003fip.1_Missense_Mutation_p.P811H NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 828 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) CTGCCCCATCCCCATCCCCAC 0.423 NA 22 13 1.50039e-11 1.88181e-11 0.001882 1 0 NAALADL2 254827 broad.mit.edu 37 3 175184802 175184802 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:175184802G>T uc003fit.2 + 8 1450 c.1363G>T c.(1363-1365)GCA>TCA p.A455S NAALADL2_uc003fiu.1_Missense_Mutation_p.A448S|NAALADL2_uc010hwy.1_Missense_Mutation_p.A229S|NAALADL2_uc010hwz.1_Missense_Mutation_p.A49S NM_207015 NP_996898 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 455 Extracellular (Potential). proteolysis integral to membrane peptidase activity pancreas(1) 1 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) TCATCACACTGCACACAGTTA 0.388 NA 41 149 2.77807e-22 4.24726e-22 0.003214 1 0 TTC14 151613 broad.mit.edu 37 3 180324138 180324138 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:180324138G>A uc003fkk.2 + 8 1159 c.1027G>A c.(1027-1029)GCT>ACT p.A343T TTC14_uc003fkl.2_Missense_Mutation_p.A343T|TTC14_uc003fkm.2_Missense_Mutation_p.A343T NM_133462 NP_597719 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 isoform a 343 TPR 3. RNA binding ovary(1) 1 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) AAACGTGGAAGCTTTGGTAGC 0.368 NA 19 48 0 0 0.007413 0 0 SOX2 6657 broad.mit.edu 37 3 181430578 181430578 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:181430578G>C uc003fkx.2 + 1 857 c.430G>C c.(430-432)GGG>CGG p.G144R SOX2OT_uc003fkv.2_Intron|SOX2OT_uc003fkw.3_Intron NM_003106 NP_003097 P48431 SOX2_HUMAN sex-determining region Y-box 2 144 cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance cytosol|transcription factor complex miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 all_cancers(143;1.22e-16)|Ovarian(172;0.0283) all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08) GAGCGGGGTCGGGGTGGGCGC 0.677 NA A NSCLC|oesophageal squamous carcinoma MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME 7 14 0 0 0.00308 0 0 MCF2L2 23101 broad.mit.edu 37 3 183014772 183014772 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:183014772C>T uc003fli.1 - 12 1579 c.1489G>A c.(1489-1491)GAT>AAT p.D497N MCF2L2_uc003flj.1_Missense_Mutation_p.D497N|MCF2L2_uc011bqr.1_Intron|uc003fln.1_RNA|uc003flo.2_5'Flank NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Rho family guanine-nucleotide exchange factor 497 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2)|large_intestine(2)|breast(1) 5 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) ACCTTTGCATCGAGGGTGAGC 0.512 NA 11 48 0 0 0.000978 0 0 ABCC5 10057 broad.mit.edu 37 3 183696421 183696421 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:183696421C>A uc003fmg.2 - 9 1331 c.1166G>T c.(1165-1167)CGT>CTT p.R389L ABCC5_uc011bqt.1_5'UTR|ABCC5_uc010hxl.2_Missense_Mutation_p.R389L NM_005688 NP_005679 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C, member 5 389 ABC transmembrane type-1 1. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CAATATCCGACGCTCCTCCTC 0.473 NA 12 35 6.40141e-05 6.88944e-05 0.000978 1 0 AP2M1 1173 broad.mit.edu 37 3 183896818 183896818 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:183896818A>G uc011bqx.1 + 3 405 c.248A>G c.(247-249)TAT>TGT p.Y83C AP2M1_uc003fmw.2_Missense_Mutation_p.Y83C|AP2M1_uc003fmx.2_Missense_Mutation_p.Y83C|AP2M1_uc003fmy.2_Missense_Mutation_p.Y83C|AP2M1_uc011bqy.1_5'Flank|AP2M1_uc011bqz.1_5'Flank NM_004068 NP_004059 Q96CW1 AP2M1_HUMAN adaptor-related protein complex 2, mu 1 subunit 83 axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane lipid binding|protein binding|transporter activity 0 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GAATTCCTCTATAAGATGTGT 0.483 NA 44 94 0 0 0.002852 0 0 AP2M1 1173 broad.mit.edu 37 3 183899836 183899836 + Splice_Site SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:183899836G>A uc011bqx.1 + 9 1120 c.963_splice c.e9+1 p.E321_splice AP2M1_uc003fmw.2_Splice_Site_p.E319_splice|AP2M1_uc003fmx.2_Splice_Site_p.E249_splice|AP2M1_uc003fmy.2_Splice_Site_p.E319_splice|AP2M1_uc011bqy.1_Splice_Site_p.E191_splice|AP2M1_uc011bqz.1_Splice_Site_p.E137_splice NM_004068 NP_004059 Q96CW1 AP2M1_HUMAN adaptor-related protein complex 2, mu 1 subunit axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane lipid binding|protein binding|transporter activity 0 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GAAGATCGAGGTGAGGACAGG 0.532 NA 5 23 0 0 0.000602 0 0 EIF4G1 1981 broad.mit.edu 37 3 184045040 184045040 + Silent SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:184045040A>T uc003fnp.2 + 24 3663 c.3465A>T c.(3463-3465)GGA>GGT p.G1155G EIF4G1_uc003fnt.2_Silent_p.G866G|EIF4G1_uc003fnq.2_Silent_p.G1068G|EIF4G1_uc003fnr.2_Silent_p.G991G|EIF4G1_uc010hxx.2_Silent_p.G1162G|EIF4G1_uc003fns.2_Silent_p.G1115G|EIF4G1_uc010hxy.2_Silent_p.G1162G|EIF4G1_uc003fnv.3_Silent_p.G1156G|EIF4G1_uc003fnu.3_Silent_p.G1155G|EIF4G1_uc003fnw.2_Silent_p.G1162G|EIF4G1_uc003fnx.2_Silent_p.G960G|EIF4G1_uc003fny.3_Silent_p.G959G|EIF4G1_uc003foa.2_5'Flank NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 1155 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGAAAGCTGGAGACCGAGGAG 0.577 NA 21 48 0 0 0.008871 0 0 C3orf70 285382 broad.mit.edu 37 3 184801010 184801010 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:184801010G>T uc003fpd.2 - 2 729 c.538C>A c.(538-540)CAC>AAC p.H180N NM_001025266 NP_001020437 A6NLC5 CC070_HUMAN hypothetical protein LOC285382 180 0 GAAGAGCAGTGATCTATTTTT 0.498 NA 35 33 2.20474e-14 2.90857e-14 0.003755 1 0 CRYGS 1427 broad.mit.edu 37 3 186257313 186257313 + Missense_Mutation SNP G G T rs148842396 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:186257313G>T uc003fqe.2 - 2 147 c.95C>A c.(94-96)ACA>AAA p.T32K CRYGS_uc003fqf.2_Missense_Mutation_p.T32K NM_017541 NP_060011 P22914 CRBS_HUMAN crystallin, gamma S 32 Beta/gamma crystallin 'Greek key' 1. T -> M (in Ref. 2; AA sequence). structural constituent of eye lens 0 all_cancers(143;3.75e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.5e-22) GBM - Glioblastoma multiforme(93;0.0906) ACTTAGGTATGTGTGGAAATC 0.453 NA 31 74 3.99451e-17 5.57789e-17 0.009535 1 0 KNG1 3827 broad.mit.edu 37 3 186457126 186457126 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:186457126G>A uc011bsa.1 + 9 1260 c.1048G>A c.(1048-1050)GAT>AAT p.D350N KNG1_uc003fqr.2_Missense_Mutation_p.D350N NM_001102416 NP_001095886 P01042 KNG1_HUMAN kininogen 1 isoform 1 350 Cystatin 3. blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding skin(1) 1 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) GCAAAGCCTAGATTGCAACGC 0.383 NA 14 34 0 0 0.003163 0 0 RTP2 344892 broad.mit.edu 37 3 187416361 187416361 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:187416361C>A uc003fro.1 - 2 1032 c.603G>T c.(601-603)TGG>TGT p.W201C NM_001004312 NP_001004312 Q5QGT7 RTP2_HUMAN receptor transporting protein 2 201 Helical; (Potential). protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding 0 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0515) AGAAGAGGCACCAGCGAAGAG 0.567 NA 29 21 3.80469e-20 5.61701e-20 0.009535 1 0 TMEM207 131920 broad.mit.edu 37 3 190147424 190147424 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:190147424C>G uc003fsj.2 - 5 468 c.401G>C c.(400-402)GGC>GCC p.G134A NM_207316 NP_997199 Q6UWW9 TM207_HUMAN transmembrane protein 207 precursor 134 integral to membrane 0 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.0176) AGGTGGGGAGCCTAAAGGGCC 0.408 NA 36 18 0 0 0.004878 0 0 OSTN 344901 broad.mit.edu 37 3 190936625 190936625 + Silent SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:190936625T>A uc011bsn.1 + 2 192 c.192T>A c.(190-192)CTT>CTA p.L64L NM_198184 NP_937827 P61366 OSTN_HUMAN osteocrin precursor 64 cell differentiation|multicellular organismal development|ossification hormone activity pancreas(1)|skin(1) 2 all_cancers(143;6.79e-09)|Ovarian(172;0.103) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000254) AACTCTTGCTTCTTGATGAAT 0.458 NA 20 42 0 0 0.010504 0 0 TNK2 10188 broad.mit.edu 37 3 195594441 195594441 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:195594441G>A uc003fvu.1 - 12 3226 c.2683C>T c.(2683-2685)CCC>TCC p.P895S TNK2_uc003fvq.1_Missense_Mutation_p.P302S|TNK2_uc003fvr.1_Missense_Mutation_p.P420S|TNK2_uc003fvs.1_Missense_Mutation_p.P927S|TNK2_uc003fvt.1_Missense_Mutation_p.P973S|TNK2_uc010hzw.1_RNA NM_005781 NP_005772 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 isoform 1 895 Pro-rich. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1) 10 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) ctgggtgggggcagcagcaga 0.448 NA 7 20 0 0 0.001984 0 0 C3orf34 84984 broad.mit.edu 37 3 196434644 196434644 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:196434644C>A uc011btw.1 - 3 664 c.282G>T c.(280-282)ATG>ATT p.M94I NM_032898 NP_116287 Q96LK0 CEP19_HUMAN hypothetical protein LOC84984 90 centriole|spindle pole 0 all_cancers(143;1.48e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00301) GAATTTGTTCCATTGTTTCTG 0.433 NA 84 69 6.16549e-39 1.08302e-38 0.00361 1 0 PAK2 5062 broad.mit.edu 37 3 196547287 196547287 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:196547287G>C uc003fwy.3 + 13 1521 c.1199G>C c.(1198-1200)CGC>CCC p.R400P NM_002577 NP_002568 Q13177 PAK2_HUMAN p21-activated kinase 2 400 Protein kinase. axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity ovary(1)|lung(1) 2 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00405) CAGAGCAAACGCAGTACCATG 0.483 NA 51 42 0 0 0.00361 0 0 IQCG 84223 broad.mit.edu 37 3 197618359 197618359 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:197618359C>T uc003fyo.2 - 10 1301 c.1155G>A c.(1153-1155)AAG>AAA p.K385K IQCG_uc003fyn.2_Silent_p.K287K|IQCG_uc003fyp.2_Silent_p.K385K|IQCG_uc003fym.2_Silent_p.K86K NM_001134435 NP_001127907 Q9H095 IQCG_HUMAN IQ motif containing G 385 0 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) GTTTTACCTTCTTCTTGCTCC 0.368 NA 18 25 0 0 0.001882 0 0 ZNF595 152687 broad.mit.edu 37 4 59446 59446 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:59446C>A uc003fzv.1 + 2 283 c.127C>A c.(127-129)CTG>ATG p.L43M ZNF595_uc003fzu.1_RNA|ZNF718_uc003fzt.3_Missense_Mutation_p.L43M|ZNF595_uc010iay.1_RNA|ZNF595_uc011bus.1_Translation_Start_Site|ZNF595_uc011but.1_Intron NM_182524 NP_872330 Q7Z3I0 Q7Z3I0_HUMAN zinc finger protein 595 43 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) CCTGGTCTCCCTGGGTGAGGA 0.428 NA 77 208 1.58458e-29 2.62828e-29 0.00361 1 0 ZNF141 7700 broad.mit.edu 37 4 367427 367427 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:367427G>T uc003gaa.2 + 5 1379 c.1201G>T c.(1201-1203)GGC>TGC p.G401C ZNF141_uc003gab.2_Intron NM_003441 NP_003432 Q15928 ZN141_HUMAN zinc finger protein 141 401 C2H2-type 9. anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding 0 TGAAGAATGTGGCAAAGCCTT 0.393 NA 17 60 3.45872e-05 3.74953e-05 0.004007 1 0 GAK 2580 broad.mit.edu 37 4 905555 905555 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:905555C>A uc003gbm.3 - 4 487 c.288G>T c.(286-288)CCG>CCT p.P96P GAK_uc003gbn.3_Intron|GAK_uc010ibk.1_Intron|GAK_uc003gbo.2_RNA|GAK_uc003gbl.3_5'UTR NM_005255 NP_005246 O14976 GAK_HUMAN cyclin G associated kinase 96 Protein kinase. cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity lung(2)|central_nervous_system(1)|skin(1) 4 Colorectal(103;0.219) GGACAATGTTCGGGTGGCCGG 0.448 NA 62 35 7.05995e-25 1.11826e-24 0.00361 1 0 RNF212 285498 broad.mit.edu 37 4 1079701 1079701 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:1079701C>G uc003gcj.2 - 5 675 c.345G>C c.(343-345)CAG>CAC p.Q115H RNF212_uc003gci.2_Missense_Mutation_p.Q115H|RNF212_uc010ibp.2_RNA|RNF212_uc010ibq.2_Missense_Mutation_p.Q115H NM_001131034 NP_001124506 Q495C1 RN212_HUMAN ring finger protein 212 isoform a 115 Potential. zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(23;0.0179) UCEC - Uterine corpus endometrioid carcinoma (64;0.151) GTTGTTCTATCTGCAGCACTG 0.498 NA 36 100 0 0 0.005524 0 0 SH3BP2 6452 broad.mit.edu 37 4 2831327 2831327 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:2831327G>T uc003gfi.3 + 8 814 c.694G>T c.(694-696)GGT>TGT p.G232C SH3BP2_uc011bvp.1_Missense_Mutation_p.G260C|SH3BP2_uc003gfj.3_Missense_Mutation_p.G289C|SH3BP2_uc003gfk.3_Missense_Mutation_p.G232C|SH3BP2_uc003gfl.3_Missense_Mutation_p.G165C|SH3BP2_uc003gfm.3_Missense_Mutation_p.G207C NM_001122681 NP_001116153 P78314 3BP2_HUMAN SH3-domain binding protein 2 isoform a 232 signal transduction SH3 domain binding|SH3/SH2 adaptor activity central_nervous_system(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.164) CAAGGGCCCCGGTCCCCTACT 0.687 NA Cherubism 12 56 6.40141e-05 6.88944e-05 0.000978 1 0 HTT 3064 broad.mit.edu 37 4 3129315 3129315 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:3129315C>T uc011bvq.1 + 13 1878 c.1733C>T c.(1732-1734)TCA>TTA p.S578L NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 576 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GTTACCCCTTCAGACAGTTCT 0.418 NA 8 68 0 0 0.00308 0 0 DOK7 285489 broad.mit.edu 37 4 3478232 3478232 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:3478232C>T uc003ghd.2 + 4 565 c.495C>T c.(493-495)AGC>AGT p.S165S DOK7_uc003ghe.2_Missense_Mutation_p.A31V NM_173660 NP_775931 Q18PE1 DOK7_HUMAN downstream of tyrosine kinase 7 isoform 1 165 IRS-type PTB. positive regulation of protein tyrosine kinase activity cell junction|synapse insulin receptor binding|protein kinase binding skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CCGTGCCAAGCGGATTCATCT 0.627 NA 25 59 0 0 0.002096 0 0 WFS1 7466 broad.mit.edu 37 4 6303877 6303877 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:6303877C>T uc003giy.2 + 8 2521 c.2355C>T c.(2353-2355)AGC>AGT p.S785S WFS1_uc003gix.2_Silent_p.S785S|WFS1_uc003giz.2_Silent_p.S603S NM_001145853 NP_001139325 O76024 WFS1_HUMAN wolframin 785 endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2) 2 Colorectal(103;0.0512) CATTCAGCAGCGGCGCTGACG 0.627 NA 11 26 0 0 0.003163 0 0 SH3TC1 54436 broad.mit.edu 37 4 8229720 8229720 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:8229720C>T uc003gkv.3 + 12 2400 c.2299C>T c.(2299-2301)CAC>TAC p.H767Y SH3TC1_uc003gkw.3_Missense_Mutation_p.H691Y|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank NM_018986 NP_061859 Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 767 binding large_intestine(2)|pancreas(1) 3 CCAAACTTCCCACTACCTCAG 0.692 NSCLC(145;2298 2623 35616 37297) NA 23 12 0 0 0.00278 0 0 LOC650293 650293 broad.mit.edu 37 4 8951509 8951509 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:8951509C>A uc011bwm.1 + 1 33 c.33C>A c.(31-33)CTC>CTA p.L11L NM_001040071 NP_001035160 Q8NGT4 Q8NGT4_HUMAN seven transmembrane helix receptor 11 integral to membrane olfactory receptor activity 0 GGAACCTCCTCAGTATCCTGG 0.592 NA 4 11 0.000602214 0.000632636 0.000602 1 0 DRD5 1816 broad.mit.edu 37 4 9783861 9783861 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:9783861C>A uc003gmb.3 + 1 604 c.208C>A c.(208-210)CAC>AAC p.H70N NM_000798 NP_000789 P21918 DRD5_HUMAN dopamine receptor D5 70 Cytoplasmic (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane skin(1) 1 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) GCGGAGCCGCCACCTGCGCGC 0.647 NA 30 18 1.36615e-20 2.03868e-20 0.002836 1 0 NKX3-2 579 broad.mit.edu 37 4 13544065 13544065 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:13544065C>A uc003gmx.2 - 2 630 c.554G>T c.(553-555)GGC>GTC p.G185V NM_001189 NP_001180 P78367 NKX32_HUMAN NK3 homeobox 2 185 Poly-Gly. negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 cccgctgccgcccccgccgcc 0.463 NA 11 4 4.68919e-08 5.45661e-08 0.008291 1 0 BOD1L 259282 broad.mit.edu 37 4 13602333 13602333 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:13602333C>A uc003gmz.1 - 10 6308 c.6191G>T c.(6190-6192)GGT>GTT p.G2064V BOD1L_uc010idr.1_Missense_Mutation_p.G1401V NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 2064 DNA binding ovary(5)|breast(1) 6 TTGATTTTTACCCCCTGCTAA 0.433 NA 10 52 1.58986e-06 1.77324e-06 0.008291 1 0 LAP3 51056 broad.mit.edu 37 4 17584016 17584016 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:17584016G>A uc003gph.1 + 4 541 c.379G>A c.(379-381)GCG>ACG p.A127T LAP3_uc010ieg.2_Intron NM_015907 NP_056991 P28838 AMPL_HUMAN leucine aminopeptidase 3 127 proteolysis nucleus aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding 0 TGCTGTTGCAGGTTATTTCAC 0.463 NA 4 12 0 0 0.009096 0 0 GBA3 57733 broad.mit.edu 37 4 22737615 22737615 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:22737615G>A uc003gqp.3 + 2 161 c.70G>A c.(70-72)GCA>ACA p.A24T GBA3_uc010iep.2_Missense_Mutation_p.A24T|GBA3_uc011bxo.1_Missense_Mutation_p.A25T NM_020973 NP_066024 Q9H227 GBA3_HUMAN cytosolic beta-glucosidase isoform a 24 glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity 0 AGGCTGGGATGCAGATGGAAA 0.438 NA 15 32 0 0 0.004007 0 0 GBA3 57733 broad.mit.edu 37 4 22749119 22749119 + Missense_Mutation SNP A A C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:22749119A>C uc003gqp.3 + 3 578 c.487A>C c.(487-489)ATA>CTA p.I163L GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.I164L NM_020973 NP_066024 Q9H227 GBA3_HUMAN cytosolic beta-glucosidase isoform a 163 glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity 0 GTGGATCACCATAAATGAAGC 0.438 NA 62 40 0 0 0.00361 0 0 TBC1D19 55296 broad.mit.edu 37 4 26668003 26668003 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:26668003G>T uc003gsf.3 + 9 910 c.640G>T c.(640-642)GAT>TAT p.D214Y TBC1D19_uc010iew.2_Missense_Mutation_p.D214Y|TBC1D19_uc011bxu.1_Missense_Mutation_p.D149Y NM_018317 NP_060787 Q8N5T2 TBC19_HUMAN TBC1 domain family, member 19 214 intracellular Rab GTPase activator activity breast(1) 1 Breast(46;0.0503) ACTGGGTATAGATGATTCTAC 0.343 NA 15 67 4.75885e-15 6.3914e-15 0.00499 1 0 PGM2 55276 broad.mit.edu 37 4 37857304 37857304 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:37857304A>T uc011byb.1 + 13 1751 c.1678A>T c.(1678-1680)AGT>TGT p.S560C PGM2_uc011byc.1_Missense_Mutation_p.S400C NM_018290 NP_060760 Q96G03 PGM2_HUMAN phosphoglucomutase 2 560 glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity ovary(1) 1 CATGCGCACCAGTGGGACAGA 0.488 NA 10 39 0 0 0.008291 0 0 TLR1 7096 broad.mit.edu 37 4 38798645 38798645 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:38798645T>A uc003gtl.2 - 4 2082 c.1808A>T c.(1807-1809)TAC>TTC p.Y603F NM_003263 NP_003254 Q15399 TLR1_HUMAN toll-like receptor 1 precursor 603 Cytoplasmic (Potential). cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex protein heterodimerization activity|transmembrane receptor activity lung(2)|skin(2)|prostate(1) 5 CAGATCCAAGTAGCTGCAGAG 0.527 GBM(5;216 373 40795 46382) NA 67 52 0 0 0.00361 0 0 RFC1 5981 broad.mit.edu 37 4 39343997 39343997 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:39343997C>G uc003gty.1 - 4 433 c.299G>C c.(298-300)CGG>CCG p.R100P RFC1_uc003gtx.1_Missense_Mutation_p.R100P|RFC1_uc003gtz.1_5'UTR NM_002913 NP_002904 P35251 RFC1_HUMAN replication factor C large subunit 100 DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding ovary(2)|pancreas(1)|skin(1) 4 AGGATCCTGCCGTGAAATTTT 0.398 Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157) NA 19 38 0 0 0.006122 0 0 RHOH 399 broad.mit.edu 37 4 40245027 40245027 + Nonsense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:40245027C>A uc003guz.2 + 3 745 c.21C>A c.(19-21)TGC>TGA p.C7* NM_004310 NP_004301 Q15669 RHOH_HUMAN ras homolog gene family, member H precursor 7 negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation cytosol|mitochondrion|plasma membrane GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding ovary(1)|lung(1) 2 CCATCAAGTGCGTGTTGGTGG 0.577 NA 30 30 2.70662e-09 3.23523e-09 0.009535 1 0 KCTD8 386617 broad.mit.edu 37 4 44450425 44450425 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:44450425G>T uc003gwu.2 - 1 400 c.116C>A c.(115-117)CCC>CAC p.P39H NM_198353 NP_938167 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerisation domain 39 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(2)|ovary(1) 3 GAAGGGCGAGGGTGCGCAggg 0.512 NA HNSCC(17;0.042) 15 5 4.75885e-15 6.3914e-15 0.00499 1 0 GNPDA2 132789 broad.mit.edu 37 4 44720409 44720409 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:44720409C>A uc003gwy.2 - 3 300 c.143G>T c.(142-144)TGC>TTC p.C48F GNPDA2_uc010iga.2_Intron|GNPDA2_uc011bzb.1_5'UTR|GNPDA2_uc003gwz.1_Missense_Mutation_p.C48F NM_138335 NP_612208 Q8TDQ7 GNPI2_HUMAN glucosamine-6-phosphate deaminase 2 48 N-acetylglucosamine metabolic process cytoplasm glucosamine-6-phosphate deaminase activity|hydrolase activity ovary(1) 1 TTTTTTATAGCATCCTAAAGG 0.244 Colon(54;743 1010 7604 16453 19544) NA 7 19 1.06961e-07 1.23722e-07 0.00308 1 0 GABRA2 2555 broad.mit.edu 37 4 46252441 46252441 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:46252441C>A uc003gxc.3 - 9 1913 c.1240G>T c.(1240-1242)GTT>TTT p.V414F GABRA2_uc010igc.2_Missense_Mutation_p.V414F|GABRA2_uc011bzc.1_Missense_Mutation_p.V419F NM_001114175 NP_001107647 P47869 GBRA2_HUMAN gamma-aminobutyric acid A receptor, alpha 2 414 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|skin(2) 4 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ATTTTGCTAACACTGTTGAAA 0.393 NA 56 166 2.76378e-25 4.39208e-25 0.00361 1 0 GABRA2 2555 broad.mit.edu 37 4 46334653 46334653 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:46334653G>T uc003gxc.3 - 3 907 c.234C>A c.(232-234)GGC>GGA p.G78G GABRA2_uc010igc.2_Silent_p.G78G|GABRA2_uc011bzc.1_Intron|GABRA2_uc003gxe.2_Silent_p.G78G NM_001114175 NP_001107647 P47869 GBRA2_HUMAN gamma-aminobutyric acid A receptor, alpha 2 78 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|skin(2) 4 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CTGAGACAGGGCCAAAACTGG 0.333 NA 12 51 2.61681e-11 3.26933e-11 0.00245 1 0 GABRA4 2557 broad.mit.edu 37 4 46930439 46930439 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:46930439C>A uc003gxg.2 - 9 1607 c.1468G>T c.(1468-1470)GTT>TTT p.V490F NM_000809 NP_000800 P48169 GBRA4_HUMAN gamma-aminobutyric acid A receptor, alpha 4 490 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|upper_aerodigestive_tract(1)|breast(1) 4 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ATGGTATTAACTGTGGTCTTT 0.473 Ovarian(6;283 369 8234 12290 33402) NA 30 70 7.01153e-11 8.67027e-11 0.007291 1 0 GABRA4 2557 broad.mit.edu 37 4 46930643 46930643 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:46930643T>C uc003gxg.2 - 9 1403 c.1264A>G c.(1264-1266)AAA>GAA p.K422E NM_000809 NP_000800 P48169 GBRA4_HUMAN gamma-aminobutyric acid A receptor, alpha 4 422 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|upper_aerodigestive_tract(1)|breast(1) 4 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GGTGTGCCTTTAGAAGATTCT 0.448 Ovarian(6;283 369 8234 12290 33402) NA 25 76 0 0 0.004656 0 0 ATP10D 57205 broad.mit.edu 37 4 47517556 47517556 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:47517556C>A uc003gxk.1 + 3 518 c.354C>A c.(352-354)TTC>TTA p.F118L ATP10D_uc003gxj.3_Missense_Mutation_p.F118L NM_020453 NP_065186 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 118 Helical; (Potential). ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 TAGAAGCCTTCCAAAAGGAAA 0.418 NA 23 73 1.64293e-13 2.13394e-13 0.00333 1 0 ATP10D 57205 broad.mit.edu 37 4 47537548 47537548 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:47537548G>T uc003gxk.1 + 6 963 c.799G>T c.(799-801)GTG>TTG p.V267L ATP10D_uc003gxl.1_5'Flank|ATP10D_uc003gxj.3_Missense_Mutation_p.V267L NM_020453 NP_065186 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 267 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 CAAAGAACGCGTGGGTCTCAG 0.378 NA 13 48 0.00316338 0.0032664 0.003163 1 0 CORIN 10699 broad.mit.edu 37 4 47765523 47765523 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:47765523T>C uc003gxm.2 - 4 583 c.490A>G c.(490-492)AGA>GGA p.R164G CORIN_uc011bzf.1_Missense_Mutation_p.R25G|CORIN_uc011bzg.1_Missense_Mutation_p.R97G|CORIN_uc011bzh.1_Missense_Mutation_p.R164G|CORIN_uc011bzi.1_Missense_Mutation_p.R164G|CORIN_uc003gxn.3_Missense_Mutation_p.R164G NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN corin 164 Extracellular (Potential).|FZ 1. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity ovary(1)|central_nervous_system(1) 2 TCCATGTTTCTGACAACTGAG 0.493 NA 26 82 0 0 0.00632 0 0 FRYL 285527 broad.mit.edu 37 4 48524980 48524980 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:48524980C>T uc003gyh.1 - 54 8064 c.7459G>A c.(7459-7461)GAT>AAT p.D2487N FRYL_uc003gyf.1_5'Flank|FRYL_uc003gyg.1_Missense_Mutation_p.D1183N|FRYL_uc003gyi.1_Missense_Mutation_p.D1375N|FRYL_uc003gyj.1_Missense_Mutation_p.D782N NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 2487 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 GAGGACTCATCTGTATCCTCC 0.498 NA 93 74 0 0 0.00361 0 0 DCUN1D4 23142 broad.mit.edu 37 4 52777283 52777283 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:52777283G>T uc003gze.2 + 9 796 c.663G>T c.(661-663)TTG>TTT p.L221F DCUN1D4_uc003gzf.2_Intron|DCUN1D4_uc011bzn.1_Missense_Mutation_p.L161F|DCUN1D4_uc003gzg.2_RNA|DCUN1D4_uc003gzh.2_Intron|DCUN1D4_uc011bzo.1_Missense_Mutation_p.L265F NM_001040402 NP_001035492 Q92564 DCNL4_HUMAN DCN1, defective in cullin neddylation 1, domain 221 DCUN1. ovary(2) 2 GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654) AGTGCATGTTGGGACTGTTAT 0.393 NA 20 44 1.37657e-19 2.0123e-19 0.001882 1 0 SCFD2 152579 broad.mit.edu 37 4 54231379 54231379 + Nonsense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:54231379G>A uc003gzu.2 - 1 864 c.730C>T c.(730-732)CAG>TAG p.Q244* SCFD2_uc010igm.2_Nonsense_Mutation_p.Q244* NM_152540 NP_689753 Q8WU76 SCFD2_HUMAN sec1 family domain containing 2 244 protein transport|vesicle docking involved in exocytosis ovary(2)|pancreas(1) 3 GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134) GCGATGACCTGACTTAAGGAA 0.517 NA 39 47 0 0 0.009718 0 0 LPHN3 23284 broad.mit.edu 37 4 62812687 62812687 + Silent SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:62812687G>C uc010ihh.2 + 13 2444 c.2271G>C c.(2269-2271)ACG>ACC p.T757T LPHN3_uc003hcq.3_Silent_p.T757T|LPHN3_uc003hct.2_Silent_p.T150T NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 744 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 ATTTATCCACGGAGAATGCCA 0.393 NA 52 103 0 0 0.00361 0 0 LPHN3 23284 broad.mit.edu 37 4 62903488 62903488 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:62903488T>A uc010ihh.2 + 21 3600 c.3427T>A c.(3427-3429)TGT>AGT p.C1143S LPHN3_uc003hcq.3_Missense_Mutation_p.C1143S|LPHN3_uc003hct.2_Missense_Mutation_p.C527S NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 1121 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 AACACATTGCTGTAGTGGCAA 0.413 NA 29 25 0 0 0.007291 0 0 LPHN3 23284 broad.mit.edu 37 4 62935844 62935844 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:62935844G>C uc010ihh.2 + 23 3801 c.3628G>C c.(3628-3630)GCC>CCC p.A1210P LPHN3_uc003hcq.3_Missense_Mutation_p.C1227S|LPHN3_uc003hct.2_Missense_Mutation_p.A594P NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 1188 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 TCTGAACAATGCCAGGGATAC 0.413 NA 17 24 0 0 0.010504 0 0 EPHA5 2044 broad.mit.edu 37 4 66467728 66467728 + Nonsense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:66467728C>A uc003hcy.2 - 3 734 c.541G>T c.(541-543)GAA>TAA p.E181* EPHA5_uc003hcx.2_Nonsense_Mutation_p.E112*|EPHA5_uc003hcz.2_Nonsense_Mutation_p.E181*|EPHA5_uc011cah.1_Nonsense_Mutation_p.E181*|EPHA5_uc011cai.1_Nonsense_Mutation_p.E181*|EPHA5_uc003hda.2_Nonsense_Mutation_p.E181* NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 181 Extracellular (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 GTAAAGCTTTCATCGGCAGCA 0.363 NA TSP Lung(17;0.13) 17 46 5.01169e-05 5.42396e-05 0.00499 1 0 STAP1 26228 broad.mit.edu 37 4 68436841 68436841 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:68436841C>A uc003hde.3 + 2 242 c.160C>A c.(160-162)CTT>ATT p.L54I STAP1_uc003hdf.2_Missense_Mutation_p.L54I NM_012108 NP_036240 Q9ULZ2 STAP1_HUMAN signal transducing adaptor family member 1 54 PH. cellular membrane fusion|intracellular protein transport cytoplasm 0 AGGAACTACTCTTTTCTTTTA 0.308 NA 37 60 1.00776e-21 1.52623e-21 0.00361 1 0 GNRHR 2798 broad.mit.edu 37 4 68610368 68610368 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:68610368G>T uc003hdn.2 - 2 2411 c.660C>A c.(658-660)TTC>TTA p.F220L LOC550112_uc003hdl.3_Intron|GNRHR_uc003hdm.2_Missense_Mutation_p.H178N NM_000406 NP_000397 P30968 GNRHR_HUMAN gonadotropin-releasing hormone receptor isoform 220 Helical; Name=5; (Potential). multicellular organismal development integral to plasma membrane gonadotropin-releasing hormone receptor activity ovary(1) 1 Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666) GAGGGATGATGAAGAGGCAGC 0.428 NA 24 35 2.52088e-20 3.7302e-20 0.00278 1 0 TMPRSS11B 132724 broad.mit.edu 37 4 69100207 69100207 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:69100207G>T uc003hdw.3 - 5 579 c.443C>A c.(442-444)GCA>GAA p.A148E NM_182502 NP_872308 Q86T26 TM11B_HUMAN transmembrane protease, serine 11B 148 SEA.|Extracellular (Potential). proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 AGCAGGAACTGCATTCCAGGA 0.328 NA 9 26 1.58986e-06 1.77324e-06 0.008291 1 0 TMPRSS11B 132724 broad.mit.edu 37 4 69101916 69101916 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:69101916C>T uc003hdw.3 - 3 329 c.193G>A c.(193-195)GCA>ACA p.A65T NM_182502 NP_872308 Q86T26 TM11B_HUMAN transmembrane protease, serine 11B 65 SEA.|Extracellular (Potential). proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 TGTGAAGCTGCGTTTTCACAA 0.279 NA 4 9 0 0 0.009096 0 0 UGT2B28 54490 broad.mit.edu 37 4 70155468 70155468 + Missense_Mutation SNP T T G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:70155468T>G uc003hej.2 + 4 1090 c.1088T>G c.(1087-1089)CTA>CGA p.L363R UGT2B28_uc010ihr.2_Intron NM_053039 NP_444267 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, 363 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Flunitrazepam(DB01544) AATGACCTTCTAGGTAACACT 0.353 NA 22 42 0 0 0.002299 0 0 UGT2B28 54490 broad.mit.edu 37 4 70156323 70156323 + Silent SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:70156323C>G uc003hej.2 + 5 1106 c.1104C>G c.(1102-1104)ACC>ACG p.T368T UGT2B28_uc010ihr.2_Intron NM_053039 NP_444267 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, 368 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Flunitrazepam(DB01544) TTCCAAAAACCAGAGCTTTTA 0.383 NA 25 44 0 0 0.008361 0 0 MUC7 4589 broad.mit.edu 37 4 71347452 71347452 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:71347452C>A uc011cat.1 + 4 1279 c.991C>A c.(991-993)CAC>AAC p.H331N MUC7_uc011cau.1_Missense_Mutation_p.H331N|MUC7_uc003hfj.2_Missense_Mutation_p.H331N|uc011cav.1_RNA NM_001145006 NP_001138478 Q8TAX7 MUC7_HUMAN mucin 7, secreted precursor 331 Thr-rich. extracellular region protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 Lung(101;0.211) TGCACCCACACACCAGACTAC 0.438 NA 47 71 3.94638e-17 5.53065e-17 0.00361 1 0 ENAM 10117 broad.mit.edu 37 4 71508260 71508260 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:71508260C>A uc011caw.1 + 9 1398 c.1117C>A c.(1117-1119)CGT>AGT p.R373S NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN enamelin precursor 373 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel ovary(3) 3 Lung(101;0.235) ACAAGTAGCTCGTCCAGGAAA 0.438 NA 41 79 7.63091e-17 1.05869e-16 0.007835 1 0 UTP3 57050 broad.mit.edu 37 4 71555428 71555428 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:71555428A>T uc003hfo.2 + 1 1233 c.1034A>T c.(1033-1035)AAG>ATG p.K345M NM_020368 NP_065101 Q9NQZ2 SAS10_HUMAN UTP3, small subunit processome component 345 brain development|chromatin modification|gene silencing nucleolus 0 Lung(101;0.235) AAATCCACCAAGCCCAAACCA 0.403 NA 39 51 0 0 0.004878 0 0 CDKL2 8999 broad.mit.edu 37 4 76532444 76532444 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:76532444C>A uc003hiq.2 - 4 990 c.465G>T c.(463-465)GGG>GGT p.G155G CDKL2_uc011cbp.1_Silent_p.G155G|CDKL2_uc010iix.1_Intron NM_003948 NP_003939 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 155 Protein kinase. sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity ovary(2)|stomach(2)|breast(2)|skin(1) 7 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) TATAAACCTCCCCAGGAGCTG 0.453 NA 17 26 1.15088e-07 1.32252e-07 0.004007 1 0 FRAS1 80144 broad.mit.edu 37 4 79188481 79188481 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:79188481G>T uc003hlb.2 + 9 1316 c.876G>T c.(874-876)CGG>CGT p.R292R FRAS1_uc003hkw.2_Silent_p.R292R|FRAS1_uc003hky.1_5'UTR|FRAS1_uc003hkz.2_5'UTR NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 292 VWFC 5.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 GAGTTGTGCGGTACCAGGACG 0.572 NA 9 12 1.76689e-08 2.07605e-08 0.006214 1 0 WDFY3 23001 broad.mit.edu 37 4 85660262 85660262 + Nonsense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:85660262C>A uc003hpd.2 - 40 6883 c.6475G>T c.(6475-6477)GGA>TGA p.G2159* NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 2159 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) AGTCCAAATCCATCCACGTTG 0.413 NA 22 23 1.9806e-07 2.27328e-07 0.002299 1 0 SLC10A6 345274 broad.mit.edu 37 4 87746721 87746721 + Silent SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:87746721T>A uc003hqd.2 - 5 919 c.771A>T c.(769-771)ACA>ACT p.T257T NM_197965 NP_932069 Q3KNW5 SOAT_HUMAN sodium-dependent organic anion transporter 257 Cytoplasmic (Potential). integral to membrane|plasma membrane bile acid:sodium symporter activity 0 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.00099) CTAAGGAAATTGTCCTGCACC 0.378 NA 11 15 0 0 0.000978 0 0 ABCG2 9429 broad.mit.edu 37 4 89020572 89020572 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:89020572C>T uc003hrg.2 - 12 1889 c.1396G>A c.(1396-1398)GTG>ATG p.V466M ABCG2_uc003hrh.2_Missense_Mutation_p.V466M|ABCG2_uc003hrf.2_Missense_Mutation_p.V334M NM_004827 NP_004818 Q9UNQ0 ABCG2_HUMAN ATP-binding cassette, sub-family G, member 2 466 ABC transmembrane type-2.|Cytoplasmic (Potential). cellular iron ion homeostasis|urate metabolic process integral to membrane|plasma membrane ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.02e-05) Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030) TAAGATGACACTCTGTAGTAT 0.353 NA 12 13 0 0 0.000978 0 0 FAM13A 10144 broad.mit.edu 37 4 89649693 89649693 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:89649693C>G uc003hse.1 - 24 3271 c.3063G>C c.(3061-3063)AAG>AAC p.K1021N FAM13A_uc011cdp.1_Missense_Mutation_p.K123N|FAM13A_uc003hsa.1_Missense_Mutation_p.K464N|FAM13A_uc003hsb.1_Missense_Mutation_p.K695N|FAM13A_uc003hsd.1_Missense_Mutation_p.K667N|FAM13A_uc003hsc.1_Missense_Mutation_p.K681N|FAM13A_uc011cdq.1_Missense_Mutation_p.K667N|FAM13A_uc003hsf.1_Missense_Mutation_p.K607N|FAM13AOS_uc003hry.1_RNA|FAM13AOS_uc003hrz.1_RNA NM_014883 NP_055698 O94988 FA13A_HUMAN family with sequence similarity 13, member A1 1021 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1)|liver(1) 2 CTCACATGGACTTGGAATCAG 0.547 NA 17 34 0 0 0.00499 0 0 FAM190A 401145 broad.mit.edu 37 4 91230220 91230220 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:91230220C>A uc003hsv.3 + 2 1125 c.785C>A c.(784-786)GCC>GAC p.A262D FAM190A_uc003hsu.3_Missense_Mutation_p.A262D|FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.A262D NM_001145065 NP_001138537 Q9C0I3 F190A_HUMAN KIAA1680 protein isoform 1 262 large_intestine(1)|ovary(1) 2 GAATTTTTAGCCTTGACTGAA 0.438 NA 52 81 2.43139e-17 3.40995e-17 0.00361 1 0 FAM190A 401145 broad.mit.edu 37 4 91645125 91645125 + Nonsense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:91645125G>T uc003hsv.3 + 7 2333 c.1993G>T c.(1993-1995)GAG>TAG p.E665* FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Nonsense_Mutation_p.E665*|FAM190A_uc003hsx.2_RNA NM_001145065 NP_001138537 Q9C0I3 F190A_HUMAN KIAA1680 protein isoform 1 665 large_intestine(1)|ovary(1) 2 TCTTACTGAAGAGCCAGTGCC 0.333 NA 3 0 0.004672 0.0048062 0.004672 1 0 ATOH1 474 broad.mit.edu 37 4 94750813 94750813 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:94750813G>T uc003hta.1 + 1 736 c.736G>T c.(736-738)GGG>TGG p.G246W NM_005172 NP_005163 Q92858 ATOH1_HUMAN atonal homolog 1 246 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity 0 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.57e-07) CTCCTATGAAGGGGGCGCGGG 0.716 NA 17 22 3.32936e-07 3.78318e-07 0.006122 1 0 PDHA2 5161 broad.mit.edu 37 4 96761908 96761908 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:96761908G>T uc003htr.3 + 1 670 c.607G>T c.(607-609)GCC>TCC p.A203S NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor 203 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) GGGGCAGATAGCCGAAGCTTT 0.463 NA 20 28 1.56452e-12 1.99722e-12 0.007413 1 0 PDHA2 5161 broad.mit.edu 37 4 96762426 96762426 + Silent SNP T T G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:96762426T>G uc003htr.3 + 1 1188 c.1125T>G c.(1123-1125)GTT>GTG p.V375V NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor 375 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) CTTTTGAAGTTCGTGGTGCAA 0.413 NA 28 35 0 0 0.002445 0 0 TBCK 93627 broad.mit.edu 37 4 107092362 107092362 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:107092362T>A uc010ilv.2 - 23 2490 c.2125A>T c.(2125-2127)ACT>TCT p.T709S TBCK_uc003hyb.2_Missense_Mutation_p.T452S|TBCK_uc003hye.2_Missense_Mutation_p.T670S|TBCK_uc003hyc.2_Missense_Mutation_p.T646S|TBCK_uc003hyd.2_Missense_Mutation_p.T537S|TBCK_uc003hyf.2_Missense_Mutation_p.T709S NM_001163435 NP_001156907 Q8TEA7 TBCK_HUMAN TBC domain-containing protein kinase-like 709 intracellular Rab GTPase activator activity large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1) 5 TGTCTGTAAGTAGCACTTTTA 0.413 NA 18 46 0 0 0.010504 0 0 LEF1 51176 broad.mit.edu 37 4 108991910 108991910 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:108991910C>A uc003hyt.1 - 9 1680 c.1025G>T c.(1024-1026)CGT>CTT p.R342L LEF1_uc011cfj.1_Missense_Mutation_p.R199L|LEF1_uc011cfk.1_Missense_Mutation_p.R246L|LEF1_uc003hyu.1_Missense_Mutation_p.R314L|LEF1_uc003hyv.1_Missense_Mutation_p.R314L|LEF1_uc010imb.1_RNA|LEF1_uc003hys.1_RNA|LEF1_uc010ima.1_Missense_Mutation_p.R30L|LEF1_uc003hyw.1_RNA NM_016269 NP_057353 Q9UJU2 LEF1_HUMAN lymphoid enhancer-binding factor 1 isoform 1 342 HMG box. canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation cytoplasm|protein-DNA complex|transcription factor complex armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding large_intestine(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.000224) CTGCTCTTCACGGGAGAGGGC 0.373 NA 19 29 5.03518e-11 6.25436e-11 0.007413 1 0 ENPEP 2028 broad.mit.edu 37 4 111441523 111441523 + Splice_Site SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:111441523G>A uc003iab.3 + 10 2069 c.1727_splice c.e10+1 p.G576_splice NM_001977 NP_001968 Q07075 AMPE_HUMAN glutamyl aminopeptidase cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding skin(3)|ovary(1)|breast(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) CAGATCTTGGGTAAGGCTCTA 0.388 NA 14 26 0 0 0.003163 0 0 ANK2 287 broad.mit.edu 37 4 114274342 114274342 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:114274342C>A uc003ibe.3 + 38 4668 c.4568C>A c.(4567-4569)ACA>AAA p.T1523K ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.T1538K NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 1490 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) ATCTTGACCACAGATGTGTCT 0.443 NA 19 34 1.96292e-10 2.40424e-10 0.010504 1 0 ANK2 287 broad.mit.edu 37 4 114276758 114276758 + Silent SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:114276758A>T uc003ibe.3 + 38 7084 c.6984A>T c.(6982-6984)ACA>ACT p.T2328T ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Silent_p.T2343T NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 2295 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) ATGATTGCACAGGCAGCTGTA 0.493 NA 15 22 0 0 0.00245 0 0 NDST4 64579 broad.mit.edu 37 4 115773944 115773944 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:115773944A>G uc003ibu.2 - 8 2432 c.1753T>C c.(1753-1755)TGG>CGG p.W585R NDST4_uc010imw.2_RNA NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 585 Lumenal (Potential).|Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) TCTCTGGACCAGATGTCTTTG 0.358 NA 8 17 0 0 0.004482 0 0 KIAA1109 84162 broad.mit.edu 37 4 123193425 123193425 + Nonsense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:123193425C>T uc003ieh.2 + 46 8356 c.8311C>T c.(8311-8313)CAG>TAG p.Q2771* KIAA1109_uc003iel.1_Nonsense_Mutation_p.Q706*|KIAA1109_uc003iek.2_Nonsense_Mutation_p.Q1390* NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 2771 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 TTCTGAACCTCAGCATGTTAC 0.433 NA 12 18 0 0 0.00245 0 0 BBS12 166379 broad.mit.edu 37 4 123663745 123663745 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:123663745A>T uc003ieu.2 + 2 891 c.698A>T c.(697-699)CAC>CTC p.H233L NM_152618 NP_689831 Q6ZW61 BBS12_HUMAN Bardet-Biedl syndrome 12 233 cellular protein metabolic process cilium ATP binding ovary(2) 2 ATACTAATCCACAGTAGGCAT 0.388 NA Bardet-Biedl_syndrome 18 29 0 0 0.00499 0 0 FAT4 79633 broad.mit.edu 37 4 126372061 126372061 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:126372061G>T uc003ifj.3 + 9 9890 c.9890G>T c.(9889-9891)CGT>CTT p.R3297L FAT4_uc011cgp.1_Missense_Mutation_p.R1595L|FAT4_uc003ifi.1_Missense_Mutation_p.R775L NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 3297 Cadherin 31.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TATGTGCCCCGTTTTGTTTCC 0.403 NA 22 19 4.35082e-09 5.18452e-09 0.010504 1 0 FAT4 79633 broad.mit.edu 37 4 126397370 126397370 + Silent SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:126397370A>T uc003ifj.3 + 12 12252 c.12252A>T c.(12250-12252)CCA>CCT p.P4084P FAT4_uc011cgp.1_Silent_p.P2347P|FAT4_uc003ifi.1_Silent_p.P1562P NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4084 Laminin G-like 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 ACCAAGAGCCAGGATATTGTA 0.348 NA 45 53 0 0 0.00361 0 0 FAT4 79633 broad.mit.edu 37 4 126408613 126408613 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:126408613G>A uc003ifj.3 + 16 12930 c.12930G>A c.(12928-12930)GGG>GGA p.G4310G FAT4_uc011cgp.1_Silent_p.G2551G|FAT4_uc003ifi.1_Silent_p.G1788G NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4310 Laminin G-like 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TTCTAATTGGGAAAAATGGAA 0.398 NA 9 31 0 0 0.000978 0 0 FAT4 79633 broad.mit.edu 37 4 126408659 126408659 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:126408659A>G uc003ifj.3 + 16 12976 c.12976A>G c.(12976-12978)AGA>GGA p.R4326G FAT4_uc011cgp.1_Missense_Mutation_p.R2567G|FAT4_uc003ifi.1_Missense_Mutation_p.R1804G NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4326 Laminin G-like 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 AATATATAACAGAGATATTAT 0.418 NA 8 19 0 0 0.00308 0 0 INTU 27152 broad.mit.edu 37 4 128608933 128608933 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:128608933C>T uc003ifk.1 + 8 1430 c.1360C>T c.(1360-1362)CCC>TCC p.P454S INTU_uc011cgq.1_RNA NM_015693 NP_056508 Q9ULD6 PDZD6_HUMAN PDZ domain containing 6 454 ovary(1) 1 CAGCGCCAGTCCCAGTGCTCA 0.473 NA 26 35 0 0 0.00333 0 0 PCDH10 57575 broad.mit.edu 37 4 134073585 134073585 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:134073585G>T uc003iha.2 + 1 3116 c.2290G>T c.(2290-2292)GGT>TGT p.G764C PCDH10_uc003igz.2_Missense_Mutation_p.G764C NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 764 Cys-rich.|Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) CTGCTGCTGCGGTGGCGGAGG 0.587 NA 7 20 2.7689e-08 3.24352e-08 0.001984 1 0 PCDH18 54510 broad.mit.edu 37 4 138450988 138450988 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:138450988C>A uc003ihe.3 - 1 2642 c.2255G>T c.(2254-2256)CGG>CTG p.R752L PCDH18_uc003ihf.3_Missense_Mutation_p.R745L|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.R532L|PCDH18_uc011cha.1_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN protocadherin 18 precursor 752 Cytoplasmic (Potential). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding pancreas(3)|skin(2) 5 all_hematologic(180;0.24) GTGAATCTGCCGGGATGGCCT 0.483 NA 20 43 1.78486e-19 2.60326e-19 0.007413 1 0 MAML3 55534 broad.mit.edu 37 4 141074181 141074181 + Nonsense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:141074181C>A uc003ihz.1 - 1 1053 c.301G>T c.(301-303)GAG>TAG p.E101* MAML3_uc011chd.1_Nonsense_Mutation_p.E101* NM_018717 NP_061187 Q96JK9 MAML3_HUMAN mastermind-like 3 101 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity ovary(1) 1 all_hematologic(180;0.162) TCCAGCTGCTCCACCTGAGCC 0.677 NA 6 1 0.00198382 0.00205832 0.001984 1 0 TBC1D9 23158 broad.mit.edu 37 4 141600249 141600249 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:141600249G>A uc010ioj.2 - 5 970 c.698C>T c.(697-699)TCT>TTT p.S233F NM_015130 NP_055945 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 233 intracellular calcium ion binding|Rab GTPase activator activity ovary(1) 1 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) GAGGAATACAGAGAAGAAATG 0.473 NA 53 105 0 0 0.00361 0 0 POU4F2 5458 broad.mit.edu 37 4 147560530 147560530 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:147560530G>T uc003ikv.2 + 1 486 c.238G>T c.(238-240)GGC>TGC p.G80C NM_004575 NP_004566 Q12837 PO4F2_HUMAN Brn3b POU domain transcription factor 80 Poly-Gly. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription breast(1) 1 all_hematologic(180;0.151) tggcagcagcggcggcggggg 0.318 NA 10 17 2.27111e-07 2.59901e-07 0.001368 1 0 POU4F2 5458 broad.mit.edu 37 4 147561536 147561536 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:147561536G>T uc003ikv.2 + 2 1054 c.806G>T c.(805-807)CGC>CTC p.R269L NM_004575 NP_004566 Q12837 PO4F2_HUMAN Brn3b POU domain transcription factor 269 POU-specific. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription breast(1) 1 all_hematologic(180;0.151) AAGCAGCGACGCATCAAGCTG 0.687 NA 7 15 5.18039e-06 5.70876e-06 0.00308 1 0 LRBA 987 broad.mit.edu 37 4 151604712 151604712 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:151604712G>A uc010ipj.2 - 37 6386 c.5912C>T c.(5911-5913)TCT>TTT p.S1971F LRBA_uc003ilt.3_Missense_Mutation_p.S630F|LRBA_uc003ilu.3_Missense_Mutation_p.S1971F NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 1971 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) CCTCACTGCAGAATTTCCCCA 0.403 NA 9 71 0 0 0.006214 0 0 ARFIP1 27236 broad.mit.edu 37 4 153803926 153803926 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:153803926G>C uc003imz.2 + 7 961 c.685G>C c.(685-687)GAG>CAG p.E229Q ARFIP1_uc003inb.2_Missense_Mutation_p.E197Q|ARFIP1_uc003ina.2_Missense_Mutation_p.E197Q|ARFIP1_uc003inc.2_Missense_Mutation_p.E229Q|ARFIP1_uc011cij.1_Missense_Mutation_p.E49Q NM_001025595 NP_001020766 P53367 ARFP1_HUMAN ADP-ribosylation factor interacting protein 1 229 AH. intracellular protein transport|regulation of protein secretion cytosol|Golgi membrane ovary(1) 1 all_hematologic(180;0.093) TAAAAATGGAGAGACTCTTCT 0.338 NA 8 20 0 0 0.00308 0 0 SFRP2 6423 broad.mit.edu 37 4 154709967 154709967 + Silent SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:154709967C>G uc003inv.1 - 1 262 c.21G>C c.(19-21)TCG>TCC p.S7S NM_003013 NP_003004 Q96HF1 SFRP2_HUMAN secreted frizzled-related protein 2 precursor 7 brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development cytoplasm|extracellular matrix|extracellular space|plasma membrane fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding ovary(1)|central_nervous_system(1) 2 all_hematologic(180;0.093) Renal(120;0.117) GCAGCAGCAGCGAGCCAGGGC 0.711 NA 11 4 0 0 0.008291 0 0 FGA 2243 broad.mit.edu 37 4 155507680 155507680 + Nonsense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:155507680C>A uc003iod.1 - 5 959 c.901G>T c.(901-903)GGA>TGA p.G301* FGA_uc003ioe.1_Nonsense_Mutation_p.G301*|FGA_uc003iof.1_Intron NM_000508 NP_000499 P02671 FIBA_HUMAN fibrinogen, alpha polypeptide isoform alpha-E 301 By similarity. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|breast(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) CTTCCAGGTCCAGAGCTCCCA 0.572 NSCLC(143;340 1922 20892 22370 48145) NA 52 79 4.02871e-13 5.18743e-13 0.00361 1 0 FSTL5 56884 broad.mit.edu 37 4 162577480 162577480 + Silent SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:162577480A>G uc003iqh.2 - 7 1330 c.894T>C c.(892-894)AAT>AAC p.N298N FSTL5_uc003iqi.2_Silent_p.N297N|FSTL5_uc010iqv.2_Silent_p.N297N NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 298 Ig-like 1. extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) ATGTACTCACATTGATGTCTT 0.348 NA 3 8 0 0 0.004672 0 0 FSTL5 56884 broad.mit.edu 37 4 162577485 162577485 + Missense_Mutation SNP T T G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:162577485T>G uc003iqh.2 - 7 1325 c.889A>C c.(889-891)ATC>CTC p.I297L FSTL5_uc003iqi.2_Missense_Mutation_p.I296L|FSTL5_uc010iqv.2_Missense_Mutation_p.I296L NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 297 Ig-like 1. extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) CTCACATTGATGTCTTCCAAA 0.338 NA 4 7 0 0 0.009096 0 0 ANP32C 23520 broad.mit.edu 37 4 165118530 165118530 + Nonsense_Mutation SNP T T A rs138319123 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:165118530T>A uc011cjk.1 - 1 334 c.334A>T c.(334-336)AAG>TAG p.K112* MARCH1_uc003iqs.1_Intron NM_012403 NP_036535 O43423 AN32C_HUMAN acidic nuclear phosphoprotein 32C 112 LRR 4. 0 all_hematologic(180;0.203) Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223) KIRC - Kidney renal clear cell carcinoma(143;0.242) TCTAAGCTCTTGAGGTTTTCT 0.418 NA 46 22 0 0 0.002852 0 0 IRF2 3660 broad.mit.edu 37 4 185339812 185339812 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:185339812T>A uc003iwf.3 - 4 438 c.238A>T c.(238-240)AAT>TAT p.N80Y NM_002199 NP_002190 P14316 IRF2_HUMAN interferon regulatory factor 2 80 IRF tryptophan pentad repeat. blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway focal adhesion|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592) all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419) CATCTGAAATTCGCCTTCCAT 0.388 NA 12 4 0 0 0.001368 0 0 ACSL1 2180 broad.mit.edu 37 4 185687118 185687118 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:185687118C>A uc003iww.2 - 14 1580 c.1286G>T c.(1285-1287)CGG>CTG p.R429L ACSL1_uc011ckm.1_Missense_Mutation_p.R258L|ACSL1_uc003iwt.1_Missense_Mutation_p.R429L|ACSL1_uc003iwu.1_Missense_Mutation_p.R429L|ACSL1_uc011ckn.1_Missense_Mutation_p.R395L|ACSL1_uc003iws.1_5'UTR NM_001995 NP_001986 P33121 ACSL1_HUMAN acyl-CoA synthetase long-chain family member 1 429 Cytoplasmic (Potential). digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity ovary(2) 2 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CACCATCAGCCGGACTCTTCC 0.647 NA 27 17 1.5548e-18 2.2307e-18 0.005443 1 0 PDLIM3 27295 broad.mit.edu 37 4 186429513 186429513 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:186429513T>C uc003ixw.3 - 5 726 c.602A>G c.(601-603)AAT>AGT p.N201S PDLIM3_uc003ixx.3_Intron|PDLIM3_uc010isi.2_Intron NM_014476 NP_055291 Q53GG5 PDLI3_HUMAN PDZ and LIM domain protein 3 isoform a 201 sarcomere zinc ion binding ovary(2) 2 all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171) TTCCATAATATTGTCATCTGA 0.418 NA 30 14 0 0 0.007291 0 0 AHRR 57491 broad.mit.edu 37 5 433020 433020 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:433020G>T uc003jav.2 + 11 1180 c.1136G>T c.(1135-1137)CGG>CTG p.R379L AHRR_uc003jaw.2_Missense_Mutation_p.R357L|AHRR_uc010isy.2_Missense_Mutation_p.R207L|AHRR_uc010isz.2_Missense_Mutation_p.R357L|AHRR_uc003jax.2_Missense_Mutation_p.R120L|AHRR_uc003jay.2_Missense_Mutation_p.R217L|AHRR_uc003jaz.2_5'UTR NM_020731 NP_065782 A9YTQ3 AHRR_HUMAN arylhydrocarbon receptor repressor 361 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2) 2 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) CTGTGCCTCCGGGGTGGCCCT 0.672 NA 22 36 1.50039e-11 1.88181e-11 0.001882 1 0 TERT 7015 broad.mit.edu 37 5 1293516 1293516 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:1293516G>A uc003jcb.1 - 2 1543 c.1485C>T c.(1483-1485)ATC>ATT p.I495I TERT_uc003jca.1_Silent_p.I495I|TERT_uc003jcc.1_Silent_p.I495I|TERT_uc003jcd.1_RNA|TERT_uc003jce.1_RNA NM_198253 NP_937983 O14746 TERT_HUMAN telomerase reverse transcriptase isoform 1 495 Required for oligomerization.|RNA-interacting domain 2.|QFP motif. anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity lung(7)|ovary(2)|central_nervous_system(2)|skin(1) 12 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TCCCCAGGGAGATGAACTTCT 0.667 NA TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic 30 42 0 0 0.002096 0 0 TERT 7015 broad.mit.edu 37 5 1294381 1294381 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:1294381A>T uc003jcb.1 - 2 678 c.620T>A c.(619-621)GTC>GAC p.V207D TERT_uc003jca.1_Missense_Mutation_p.V207D|TERT_uc003jcc.1_Missense_Mutation_p.V207D|TERT_uc003jcd.1_RNA|TERT_uc003jce.1_RNA NM_198253 NP_937983 O14746 TERT_HUMAN telomerase reverse transcriptase isoform 1 207 RNA-interacting domain 1. anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity lung(7)|ovary(2)|central_nervous_system(2)|skin(1) 12 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GGCCTCCCTGACGCTATGGTT 0.736 NA TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic 12 20 0 0 0.00245 0 0 LPCAT1 79888 broad.mit.edu 37 5 1501688 1501688 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:1501688C>A uc003jcm.2 - 2 283 c.166G>T c.(166-168)GTC>TTC p.V56F NM_024830 NP_079106 Q8NF37 PCAT1_HUMAN lysophosphatidylcholine acyltransferase 1 56 Cytoplasmic (Potential). phospholipid biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534) GBM - Glioblastoma multiforme(108;0.156) AGGAGCCGGACCGGGAAGAGC 0.662 NA 42 40 9.85913e-13 1.26275e-12 0.009718 1 0 ADCY2 108 broad.mit.edu 37 5 7626323 7626323 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:7626323G>C uc003jdz.1 + 4 681 c.614G>C c.(613-615)GGA>GCA p.G205A NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 205 Helical; (Potential). VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 AACCTGGCGGGAGCCTACCAT 0.443 NA 55 110 0 0 0.00361 0 0 MTRR 4552 broad.mit.edu 37 5 7897015 7897015 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:7897015G>T uc003jed.2 + 13 1826 c.1796G>T c.(1795-1797)GGA>GTA p.G599V MTRR_uc003jee.3_Missense_Mutation_p.G572V|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA NM_024010 NP_076915 Q9UBK8 MTRR_HUMAN methionine synthase reductase isoform 2 599 methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding ovary(1) 1 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) GGAAATTTTGGAGCAATGTGG 0.348 NA 33 48 1.30998e-17 1.84928e-17 0.005524 1 0 SEMA5A 9037 broad.mit.edu 37 5 9066620 9066620 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:9066620C>A uc003jek.2 - 17 2924 c.2212G>T c.(2212-2214)GCT>TCT p.A738S NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 738 TSP type-1 4.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 TTCGGATCAGCCAGGCGGGCT 0.542 NA 83 116 1.68737e-39 2.98024e-39 0.00361 1 0 ROPN1L 83853 broad.mit.edu 37 5 10465002 10465002 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:10465002C>A uc003jex.3 + 5 907 c.636C>A c.(634-636)TTC>TTA p.F212L NM_031916 NP_114122 Q96C74 ROP1L_HUMAN ropporin 1-like 212 ciliary or flagellar motility|signal transduction cytoplasm|motile cilium cAMP-dependent protein kinase regulator activity|protein binding ovary(1) 1 CAGATTTCTTCTTTCCAAAGA 0.318 NA 31 99 2.81731e-10 3.442e-10 0.002096 1 0 CTNND2 1501 broad.mit.edu 37 5 10973694 10973694 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:10973694G>T uc003jfa.1 - 22 3694 c.3549C>A c.(3547-3549)AGC>AGA p.S1183R CTNND2_uc010itt.2_Missense_Mutation_p.S1092R|CTNND2_uc011cmy.1_Missense_Mutation_p.S846R|CTNND2_uc011cmz.1_Missense_Mutation_p.S750R|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.S775R NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 1183 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 TGGTGTACTCGCTGGCGGGAG 0.522 NA 47 64 9.58827e-17 1.3274e-16 0.00361 1 0 CTNND2 1501 broad.mit.edu 37 5 11082867 11082867 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:11082867C>A uc003jfa.1 - 16 2874 c.2729G>T c.(2728-2730)TGC>TTC p.C910F CTNND2_uc010itt.2_Missense_Mutation_p.C819F|CTNND2_uc011cmy.1_Missense_Mutation_p.C573F|CTNND2_uc011cmz.1_Missense_Mutation_p.C477F|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.C502F NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 910 ARM 8. multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 GGCCACCGCGCACACCACACG 0.527 NA 40 78 2.6416e-12 3.35888e-12 0.00623 1 0 CTNND2 1501 broad.mit.edu 37 5 11565065 11565065 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:11565065C>G uc003jfa.1 - 3 423 c.278G>C c.(277-279)AGC>ACC p.S93T CTNND2_uc010itt.2_Missense_Mutation_p.S2T|CTNND2_uc011cmy.1_Missense_Mutation_p.S2T|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 93 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 CCTCATGCTGCTCATGCTGCC 0.542 NA 16 39 0 0 0.004007 0 0 DNAH5 1767 broad.mit.edu 37 5 13769204 13769204 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:13769204C>A uc003jfd.2 - 58 9804 c.9762G>T c.(9760-9762)AAG>AAT p.K3254N DNAH5_uc003jfc.2_Translation_Start_Site NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3254 Stalk (By similarity).|Potential. microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) CAGCCTTGACCTTTTCAGCAG 0.423 NA Kartagener_syndrome 158 354 3.54725e-78 6.66056e-78 0.00361 1 0 DNAH5 1767 broad.mit.edu 37 5 13891206 13891206 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:13891206C>A uc003jfd.2 - 17 2498 c.2456G>T c.(2455-2457)AGG>ATG p.R819M NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 819 Potential.|Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) ATCATTGACCCTGTCAAGCAG 0.388 NA Kartagener_syndrome 72 124 9.07738e-34 1.55222e-33 0.00361 1 0 FBXL7 23194 broad.mit.edu 37 5 15928421 15928422 + Nonsense_Mutation DNP GT GT TA TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 GT GT - - GT GT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:15928421_15928422GT>TA uc003jfn.1 + 3 1031_1032 c.550_551GT>TA c.(550-552)GTG>TAG p.V184* NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 184 LRR 1. ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 CACCCCCAACGTGTGTCTCATG 0.649 NA 21 27 0 0 0.004672 0 0 CDH18 1016 broad.mit.edu 37 5 19721528 19721528 + Missense_Mutation SNP A A C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:19721528A>C uc003jgc.2 - 4 948 c.571T>G c.(571-573)TAT>GAT p.Y191D CDH18_uc003jgd.2_Missense_Mutation_p.Y191D|CDH18_uc011cnm.1_Missense_Mutation_p.Y191D NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 191 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) CTGTTTCCATAGGTAGGGTCA 0.448 NA 22 95 0 0 0.001882 0 0 CDH10 1008 broad.mit.edu 37 5 24487969 24487969 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:24487969C>A uc003jgr.1 - 12 2502 c.2170G>T c.(2170-2172)GAC>TAC p.D724Y CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 724 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) GCGGTGGGGTCAAGATCATGC 0.448 NA HNSCC(23;0.051) 41 76 7.63091e-17 1.05869e-16 0.007835 1 0 CDH10 1008 broad.mit.edu 37 5 24491847 24491847 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:24491847C>A uc003jgr.1 - 11 2046 c.1714G>T c.(1714-1716)GAT>TAT p.D572Y CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 572 Cadherin 5.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) ATTGGGTAATCATTGTCTGAT 0.433 NA HNSCC(23;0.051) 23 41 7.41877e-09 8.79241e-09 0.001882 1 0 CDH9 1007 broad.mit.edu 37 5 26916033 26916033 + Splice_Site SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:26916033C>A uc003jgs.1 - 3 398 c.229_splice c.e3-1 p.L77_splice CDH9_uc010iug.2_Splice_Site_p.L77_splice NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 CAGTGTGAAGCTTTAGAGAGG 0.343 Melanoma(8;187 585 15745 40864 52829) NA 13 67 1.5842e-08 1.8682e-08 0.001855 1 0 PDZD2 23037 broad.mit.edu 37 5 31799605 31799605 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:31799605G>T uc003jhl.2 + 2 638 c.250G>T c.(250-252)GGC>TGC p.G84C PDZD2_uc003jhm.2_Missense_Mutation_p.G84C NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 84 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 AGAGACTGTGGGCCTGAGTTT 0.572 NA 130 132 1.83689e-69 3.42911e-69 0.00361 1 0 ZFR 51663 broad.mit.edu 37 5 32390460 32390460 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:32390460C>A uc003jhr.1 - 12 2143 c.2063G>T c.(2062-2064)GGT>GTT p.G688V ZFR_uc011cny.1_5'Flank NM_016107 NP_057191 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 688 multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(35;0.19) ATGAGGATAACCTCCATCTGG 0.532 NA 39 85 2.05212e-20 3.05292e-20 0.005524 1 0 ZFR 51663 broad.mit.edu 37 5 32417849 32417849 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:32417849T>C uc003jhr.1 - 4 549 c.469A>G c.(469-471)AGT>GGT p.S157G ZFR_uc010iun.1_Missense_Mutation_p.S157G NM_016107 NP_057191 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 157 Ala-rich. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(35;0.19) TATTGCTTACTATCATAAGCT 0.438 NA 83 163 0 0 0.00361 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33527374 33527374 + Nonsense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:33527374G>T uc003jia.1 - 24 4867 c.4704C>A c.(4702-4704)TGC>TGA p.C1568* ADAMTS12_uc010iuq.1_Nonsense_Mutation_p.C1483* NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1568 PLAC. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 GACACGAGAAGCAGCACTCAG 0.493 NA HNSCC(64;0.19) 101 306 4.49162e-49 8.17197e-49 0.00361 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33577021 33577021 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:33577021C>A uc003jia.1 - 19 3273 c.3110G>T c.(3109-3111)GGG>GTG p.G1037V ADAMTS12_uc010iuq.1_Missense_Mutation_p.G952V NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1037 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 AGACTCAGGCCCTGTGGGTGT 0.527 NA HNSCC(64;0.19) 90 111 7.63117e-38 1.32961e-37 0.00361 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33588798 33588798 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:33588798G>T uc003jia.1 - 18 2934 c.2771C>A c.(2770-2772)ACA>AAA p.T924K ADAMTS12_uc010iuq.1_Missense_Mutation_p.T839K NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 924 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 CTGGCAGTCTGTGGGCGGGAG 0.627 NA HNSCC(64;0.19) 31 207 5.60225e-13 7.19439e-13 0.009535 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33624397 33624397 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:33624397G>C uc003jia.1 - 14 2245 c.2082C>G c.(2080-2082)TGC>TGG p.C694W ADAMTS12_uc010iuq.1_Intron NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 694 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 CATCTCCCAGGCACACACCGC 0.512 NA HNSCC(64;0.19) 33 108 0 0 0.002445 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33630890 33630890 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:33630890A>T uc003jia.1 - 13 2180 c.2017T>A c.(2017-2019)TGT>AGT p.C673S ADAMTS12_uc010iuq.1_Intron NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 673 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 AATACCTTACATATGCCATTA 0.383 NA HNSCC(64;0.19) 31 112 0 0 0.007291 0 0 SLC45A2 51151 broad.mit.edu 37 5 33963842 33963842 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:33963842G>T uc003jid.2 - 3 934 c.842C>A c.(841-843)CCA>CAA p.P281Q SLC45A2_uc003jie.2_Missense_Mutation_p.P281Q|SLC45A2_uc003jif.3_Intron|SLC45A2_uc011coe.1_Intron NM_016180 NP_057264 Q9UMX9 S45A2_HUMAN membrane-associated transporter protein isoform 281 Cytoplasmic (Potential). melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 TGCCAGCTCTGGATTTACGTA 0.408 Ovarian(31;380 859 8490 22203 49048) NA 64 303 5.44642e-36 9.4048e-36 0.00361 1 0 SLC45A2 51151 broad.mit.edu 37 5 33963844 33963844 + Silent SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:33963844A>G uc003jid.2 - 3 932 c.840T>C c.(838-840)AAT>AAC p.N280N SLC45A2_uc003jie.2_Silent_p.N280N|SLC45A2_uc003jif.3_Intron|SLC45A2_uc011coe.1_Intron NM_016180 NP_057264 Q9UMX9 S45A2_HUMAN membrane-associated transporter protein isoform 280 Cytoplasmic (Potential). melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 CCAGCTCTGGATTTACGTAAC 0.408 Ovarian(31;380 859 8490 22203 49048) NA 61 307 0 0 0.00361 0 0 SLC45A2 51151 broad.mit.edu 37 5 33982417 33982417 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:33982417G>T uc003jid.2 - 2 578 c.486C>A c.(484-486)CCC>CCA p.P162P SLC45A2_uc003jie.2_Silent_p.P162P|SLC45A2_uc003jif.3_Silent_p.P162P|SLC45A2_uc011coe.1_Silent_p.P162P NM_016180 NP_057264 Q9UMX9 S45A2_HUMAN membrane-associated transporter protein isoform 162 Cytoplasmic (Potential). melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 AGGCTTTGATGGGCCCATCAA 0.483 Ovarian(31;380 859 8490 22203 49048) NA 25 71 4.72057e-08 5.48983e-08 0.003954 1 0 AGXT2 64902 broad.mit.edu 37 5 35003936 35003936 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:35003936C>T uc003jjf.2 - 13 1448 c.1369G>A c.(1369-1371)GTA>ATA p.V457I AGXT2_uc003jje.1_Missense_Mutation_p.V110I|AGXT2_uc011com.1_Missense_Mutation_p.V382I NM_031900 NP_114106 Q9BYV1 AGT2_HUMAN alanine-glyoxylate aminotransferase 2 precursor 457 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding ovary(3)|skin(1) 4 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) ATCTGATTTACTTCTTCACGG 0.408 NA OREG0016558 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 53 181 0 0 0.00361 0 0 AGXT2 64902 broad.mit.edu 37 5 35014196 35014196 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:35014196G>T uc003jjf.2 - 10 1071 c.992C>A c.(991-993)TCT>TAT p.S331Y AGXT2_uc003jje.1_5'UTR|AGXT2_uc011com.1_Intron NM_031900 NP_114106 Q9BYV1 AGT2_HUMAN alanine-glyoxylate aminotransferase 2 precursor 331 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding ovary(3)|skin(1) 4 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) CCAGAAGTGAGAGCCCAACCT 0.448 NA 40 123 7.04047e-22 1.07384e-21 0.005524 1 0 AGXT2 64902 broad.mit.edu 37 5 35039598 35039598 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:35039598G>T uc003jjf.2 - 3 272 c.193C>A c.(193-195)CGT>AGT p.R65S AGXT2_uc011com.1_Missense_Mutation_p.R65S|AGXT2_uc011con.1_5'UTR NM_031900 NP_114106 Q9BYV1 AGT2_HUMAN alanine-glyoxylate aminotransferase 2 precursor 65 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding ovary(3)|skin(1) 4 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) TCCAGGACACGGTTGTAGCCA 0.473 NA 33 94 1.22384e-17 1.73272e-17 0.002836 1 0 SPEF2 79925 broad.mit.edu 37 5 35641549 35641549 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:35641549C>A uc003jjo.2 + 3 289 c.178C>A c.(178-180)CTT>ATT p.L60I SPEF2_uc003jjn.1_Missense_Mutation_p.L60I|SPEF2_uc003jjq.3_Missense_Mutation_p.L60I NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 60 CH. nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AAGTGCCAAACTTAATAATTT 0.373 NA 25 91 7.33532e-06 8.06969e-06 0.003954 1 0 IL7R 3575 broad.mit.edu 37 5 35876488 35876488 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:35876488C>T uc003jjs.2 + 8 1369 c.1280C>T c.(1279-1281)ACA>ATA p.T427I IL7R_uc011cop.1_RNA NM_002185 NP_002176 P16871 IL7RA_HUMAN interleukin 7 receptor precursor 427 Cytoplasmic (Potential). immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity ovary(3)|breast(1)|skin(1) 5 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) GGAATCCTGACATTGAACCCA 0.502 NA 31 80 0 0 0.002096 0 0 CAPSL 133690 broad.mit.edu 37 5 35921107 35921107 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:35921107G>C uc003jjt.1 - 2 211 c.116C>G c.(115-117)GCT>GGT p.A39G CAPSL_uc003jju.1_Missense_Mutation_p.A39G NM_001042625 NP_001036090 Q8WWF8 CAPSL_HUMAN calcyphosine-like 39 EF-hand 1. cytoplasm calcium ion binding skin(1) 1 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) TTTGATCCCAGCAGAGCCCCT 0.498 NA 49 118 0 0 0.00361 0 0 UGT3A1 133688 broad.mit.edu 37 5 35968221 35968221 + Nonsense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:35968221C>A uc003jjv.1 - 3 368 c.211G>T c.(211-213)GAA>TAA p.E71* UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Nonsense_Mutation_p.E71*|UGT3A1_uc011cor.1_Nonsense_Mutation_p.E37*|UGT3A1_uc003jjy.1_Nonsense_Mutation_p.E17* NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 71 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|central_nervous_system(1) 3 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TATGATTTTTCCTCCTCTTTA 0.299 NA 25 18 3.6726e-16 5.03746e-16 0.003954 1 0 UGT3A2 167127 broad.mit.edu 37 5 36035965 36035965 + Silent SNP C C A rs138782726 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:36035965C>A uc003jjz.1 - 7 1500 c.1407G>T c.(1405-1407)ACG>ACT p.T469T UGT3A2_uc011cos.1_Silent_p.T435T|UGT3A2_uc011cot.1_Silent_p.T167T NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 469 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GCTTGAGGTGCGTCGCGCCCC 0.622 NA 34 50 9.04072e-19 1.30483e-18 0.003271 1 0 UGT3A2 167127 broad.mit.edu 37 5 36052023 36052023 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:36052023C>A uc003jjz.1 - 3 353 c.260G>T c.(259-261)AGA>ATA p.R87I UGT3A2_uc011cos.1_Missense_Mutation_p.R53I|UGT3A2_uc011cot.1_5'UTR NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 87 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TTTAAATTCTCTTTGATGATC 0.284 NA 8 73 0.000157383 0.000167241 0.00308 1 0 FYB 2533 broad.mit.edu 37 5 39202061 39202061 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:39202061C>A uc003jls.2 - 1 1069 c.1002G>T c.(1000-1002)AAG>AAT p.K334N FYB_uc003jlt.2_Missense_Mutation_p.K334N|FYB_uc003jlu.2_Missense_Mutation_p.K334N|FYB_uc011cpl.1_Missense_Mutation_p.K344N NM_199335 NP_955367 O15117 FYB_HUMAN FYN binding protein (FYB-120/130) isoform 2 334 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding ovary(2) 2 all_lung(31;0.000343) Epithelial(62;0.235) TCTTGTCTCCCTTTTCCTTTT 0.552 NA 28 109 1.88708e-17 2.65814e-17 0.008361 1 0 TTC33 23548 broad.mit.edu 37 5 40728524 40728524 + Missense_Mutation SNP C C A rs139469375 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:40728524C>A uc003jma.2 - 4 506 c.358G>T c.(358-360)GTC>TTC p.V120F TTC33_uc011cpm.1_Missense_Mutation_p.V12F|TTC33_uc010ivg.2_Intron NM_012382 NP_036514 Q6PID6 TTC33_HUMAN tetratricopeptide repeat domain 33 120 TPR 2. binding ovary(1) 1 TTTTGCTGGACGGCCATTTCT 0.403 NA 14 65 0.00185496 0.00192979 0.001855 1 0 C7 730 broad.mit.edu 37 5 40964925 40964925 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:40964925C>G uc003jmh.2 + 14 1946 c.1832C>G c.(1831-1833)GCC>GGC p.A611G C7_uc011cpn.1_RNA NM_000587 NP_000578 P10643 CO7_HUMAN complement component 7 precursor 611 Sushi 1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex 0 Ovarian(839;0.0112) AACCCAGTGGCCAGATGTGGA 0.398 NA 86 166 0 0 0.00361 0 0 C7 730 broad.mit.edu 37 5 40981659 40981659 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:40981659C>G uc003jmh.2 + 18 2630 c.2516C>G c.(2515-2517)GCT>GGT p.A839G NM_000587 NP_000578 P10643 CO7_HUMAN complement component 7 precursor 839 Complement control factor I module 2. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex 0 Ovarian(839;0.0112) AGGCCTTGTGCTGCGGAAACC 0.587 NA 4 41 0 0 0.009096 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41005676 41005676 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:41005676G>T uc003jmj.3 - 35 4311 c.3821C>A c.(3820-3822)TCC>TAC p.S1274Y HEATR7B2_uc003jmi.3_Missense_Mutation_p.S829Y NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 1274 HEAT 14. binding ovary(6)|central_nervous_system(2) 8 GTTCTCCGAGGAGGAGGTAAG 0.512 NA 9 14 0.000673444 0.000705548 0.008291 1 0 HEATR7B2 133558 broad.mit.edu 37 5 41045901 41045901 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:41045901T>A uc003jmj.3 - 18 2273 c.1783A>T c.(1783-1785)ACT>TCT p.T595S HEATR7B2_uc003jmi.3_Missense_Mutation_p.T150S NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 595 HEAT 7. binding ovary(6)|central_nervous_system(2) 8 AAATCCTGAGTCAGCTGAATG 0.393 NA 181 110 0 0 0.00361 0 0 C6 729 broad.mit.edu 37 5 41154084 41154084 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:41154084C>T uc003jmk.2 - 15 2328 c.2118G>A c.(2116-2118)AAG>AAA p.K706K C6_uc003jml.1_Silent_p.K706K NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 706 C5b-binding domain.|Sushi 2. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) GCACAACTGGCTTGATGCACT 0.413 NA 14 76 0 0 0.00245 0 0 C6 729 broad.mit.edu 37 5 41160350 41160350 + Nonsense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:41160350G>T uc003jmk.2 - 11 1788 c.1578C>A c.(1576-1578)TGC>TGA p.C526* C6_uc003jml.1_Nonsense_Mutation_p.C526* NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 526 EGF-like. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CATTATTAGGGCATGGAGCAC 0.493 NA 78 184 7.62465e-47 1.37557e-46 0.00361 1 0 MGC42105 167359 broad.mit.edu 37 5 43245913 43245913 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:43245913G>T uc003jno.2 + 2 917 c.36G>T c.(34-36)GTG>GTT p.V12V NM_153361 NP_699192 Q8IY84 NIM1_HUMAN serine/threonine-protein kinase NIM1 12 ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(4)|ovary(2)|stomach(1)|large_intestine(1)|breast(1) 9 GTGGCCTGGTGAACCCCCACT 0.607 NA 86 227 5.56898e-48 1.00846e-47 0.00361 1 0 FGF10 2255 broad.mit.edu 37 5 44388620 44388620 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:44388620G>A uc003jog.1 - 1 165 c.165C>T c.(163-165)TCC>TCT p.S55S NM_004465 NP_004456 O15520 FGF10_HUMAN fibroblast growth factor 10 precursor 55 Poly-Ser. actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation cell surface|extracellular space|nucleus|plasma membrane chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding lung(3) 3 Lung NSC(6;1.12e-06) AGGAGAAGGAGGAGGAAGAAG 0.537 NA 57 32 0 0 0.00361 0 0 ITGA1 3672 broad.mit.edu 37 5 52216286 52216286 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:52216286C>T uc003jou.2 + 17 2332 c.2280C>T c.(2278-2280)TCC>TCT p.S760S ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Silent_p.S291S NM_181501 NP_852478 P56199 ITA1_HUMAN integrin, alpha 1 precursor 760 Extracellular (Potential). axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity ovary(2)|lung(1) 3 Lung NSC(810;5.05e-05)|Breast(144;0.0851) CTAAGCACTCCTTCTACATGT 0.348 NA 15 44 0 0 0.00245 0 0 HSPB3 8988 broad.mit.edu 37 5 53751941 53751941 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:53751941G>T uc003jph.1 + 1 497 c.322G>T c.(322-324)GGT>TGT p.G108C NM_006308 NP_006299 Q12988 HSPB3_HUMAN heat shock 27kDa protein 3 108 cell death|response to heat|response to unfolded protein cytoplasm|nucleus 0 Lung NSC(810;0.00104) GGATGAGCACGGTTTTATCTC 0.473 NA 31 175 1.99505e-19 2.90544e-19 0.002445 1 0 SNX18 112574 broad.mit.edu 37 5 53839209 53839209 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:53839209C>A uc003jpi.3 + 2 2012 c.1822C>A c.(1822-1824)CAA>AAA p.Q608K SNX18_uc011cqg.1_3'UTR NM_001102575 NP_001096045 Q96RF0 SNX18_HUMAN sorting nexin 18 isoform a Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell communication|endocytosis|positive regulation of GTPase activity|protein transport endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane phosphatidylinositol binding|protein binding 0 Lung NSC(810;3.46e-05)|Breast(144;0.102) AATATTTTTCCAAAAAGTTAC 0.343 NA 14 98 7.93312e-07 8.90979e-07 0.00245 1 0 HTR1A 3350 broad.mit.edu 37 5 63257032 63257032 + Missense_Mutation SNP A A C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:63257032A>C uc011cqt.1 - 1 515 c.515T>G c.(514-516)ATG>AGG p.M172R NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 172 Helical; Name=4; (By similarity). M -> I (in Ref. 1; AAA36440/CAA31908). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) CCAGCCCAGCATGGGCGGGAT 0.597 NA 101 31 0 0 0.00361 0 0 PDE8B 8622 broad.mit.edu 37 5 76633113 76633113 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:76633113G>C uc003kfa.2 + 6 815 c.770G>C c.(769-771)GGG>GCG p.G257A PDE8B_uc003kfb.2_Missense_Mutation_p.G237A|PDE8B_uc003kfc.2_Missense_Mutation_p.G257A|PDE8B_uc003kfd.2_Missense_Mutation_p.G257A|PDE8B_uc003kfe.2_Missense_Mutation_p.G257A NM_003719 NP_003710 O95263 PDE8B_HUMAN phosphodiesterase 8B isoform 1 257 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity 0 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) ATAGAACATGGGGAAGTTCGC 0.333 NA 11 0 0 0 0.000978 0 0 OTP 23440 broad.mit.edu 37 5 76932818 76932818 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:76932818G>T uc003kfg.2 - 2 423 c.275C>A c.(274-276)CCC>CAC p.P92H NM_032109 NP_115485 Q5XKR4 OTP_HUMAN orthopedia homeobox 92 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(1) 1 all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214) OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41) GGCTTGGCTGGGGTTCGGGCC 0.697 NA 69 25 8.3131e-28 1.36135e-27 0.00361 1 0 CMYA5 202333 broad.mit.edu 37 5 79027442 79027442 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:79027442G>T uc003kgc.2 + 2 2926 c.2854G>T c.(2854-2856)GTG>TTG p.V952L NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 952 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TTCTGCATTTGTGTCAGAATT 0.398 NA 40 11 3.76604e-16 5.16195e-16 0.002522 1 0 ACOT12 134526 broad.mit.edu 37 5 80641822 80641822 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:80641822G>T uc003khl.3 - 7 710 c.655C>A c.(655-657)CGC>AGC p.R219S RNU5E_uc011cto.1_Intron NM_130767 NP_570123 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 219 Acyl coenzyme A hydrolase 2. acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity ovary(1)|kidney(1) 2 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) CAACACAGGCGGCTGGGGAGA 0.443 NA 23 6 7.4402e-23 1.14383e-22 0.003954 1 0 VCAN 1462 broad.mit.edu 37 5 82836030 82836030 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:82836030C>A uc003kii.3 + 8 7564 c.7208C>A c.(7207-7209)GCT>GAT p.A2403D VCAN_uc003kij.3_Missense_Mutation_p.A1416D|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.A1067D NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 2403 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GATTTTCTGGCTAGAGCTTAT 0.383 NA 21 5 3.10358e-05 3.37399e-05 0.002299 1 0 VCAN 1462 broad.mit.edu 37 5 82837494 82837494 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:82837494C>G uc003kii.3 + 8 9028 c.8672C>G c.(8671-8673)TCT>TGT p.S2891C VCAN_uc003kij.3_Missense_Mutation_p.S1904C|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.S1555C NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 2891 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GAGCCTCCCTCTTTATCTCCT 0.383 NA 44 10 0 0 0.003214 0 0 GPR98 84059 broad.mit.edu 37 5 89989938 89989938 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:89989938C>T uc003kju.2 + 33 7461 c.7365C>T c.(7363-7365)TTC>TTT p.F2455F GPR98_uc003kjt.2_Silent_p.F161F|GPR98_uc003kjv.2_Silent_p.F55F NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 2455 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTTCATTTTTCAGTGCTTCTG 0.493 NA 18 8 0 0 0.006122 0 0 MCTP1 79772 broad.mit.edu 37 5 94208896 94208896 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:94208896T>A uc003kkx.2 - 13 1984 c.1984A>T c.(1984-1986)ACA>TCA p.T662S MCTP1_uc003kkv.2_Missense_Mutation_p.T441S|MCTP1_uc003kkw.2_Missense_Mutation_p.T395S|MCTP1_uc003kkz.2_Missense_Mutation_p.T323S|MCTP1_uc003kku.2_Missense_Mutation_p.T178S NM_024717 NP_078993 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 isoform L 662 C2 3. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding ovary(2) 2 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) ACAGTATGTGTTAGCAGTCTA 0.353 NA 13 10 0 0 0.001855 0 0 APC 324 broad.mit.edu 37 5 112175950 112175950 + Silent SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:112175950A>G uc010jby.2 + 16 5039 c.4659A>G c.(4657-4659)GCA>GCG p.A1553A APC_uc011cvt.1_Silent_p.A1535A|APC_uc003kpz.3_Silent_p.A1553A|APC_uc003kpy.3_Silent_p.A1553A|APC_uc010jbz.2_Silent_p.A1270A|APC_uc010jca.2_Silent_p.A853A NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 1553 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.E1554fs*11(1)|p.K1192fs*3(1)|p.?(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) AGAAAGAGGCAGAAAAAACTA 0.338 NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115) 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) 16 8 0 0 0.004007 0 0 TSSK1B 83942 broad.mit.edu 37 5 112769886 112769886 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:112769886G>A uc003kqm.2 - 1 843 c.651C>T c.(649-651)GAC>GAT p.D217D MCC_uc003kql.3_Intron NM_032028 NP_114417 Q9BXA7 TSSK1_HUMAN testis-specific serine kinase 1 217 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(2)|skin(2)|stomach(1) 5 all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156) Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449) TGTTGGAGTCGTCGTAGGGCA 0.577 NA 37 2 0 0 0.007835 0 0 DMXL1 1657 broad.mit.edu 37 5 118513159 118513159 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:118513159C>T uc003ksd.2 + 27 7047 c.6866C>T c.(6865-6867)ACG>ATG p.T2289M DMXL1_uc010jcl.1_Missense_Mutation_p.T2289M NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 2289 ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) ACTCCCAATACGTCACCAGCT 0.353 NA 16 2 0 0 0.007413 0 0 SLC12A2 6558 broad.mit.edu 37 5 127449957 127449957 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:127449957G>C uc003kus.2 + 3 1094 c.930G>C c.(928-930)TGG>TGC p.W310C SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Missense_Mutation_p.W310C NM_001046 NP_001037 P55011 S12A2_HUMAN solute carrier family 12 310 Extracellular (Potential). potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity ovary(3) 3 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) GATTGTCATGGATTGTGGGTC 0.378 NA 30 54 0 0 0.008361 0 0 FBN2 2201 broad.mit.edu 37 5 127611786 127611786 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:127611786T>A uc003kuu.2 - 59 7977 c.7538A>T c.(7537-7539)TAT>TTT p.Y2513F NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 2513 EGF-like 42; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TGAACACTGATAACTCCCCTC 0.453 NA 52 7 0 0 0.00361 0 0 SLC27A6 28965 broad.mit.edu 37 5 128368848 128368848 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:128368848T>C uc003kuy.2 + 11 2129 c.1733T>C c.(1732-1734)GTG>GCG p.V578A SLC27A6_uc003kuz.2_Missense_Mutation_p.V578A NM_014031 NP_054750 Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid 578 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding 0 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) CATCAGTTGGTGGAAGATGGA 0.323 NA 24 2 0 0 0.005443 0 0 ADAMTS19 171019 broad.mit.edu 37 5 129037211 129037211 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:129037211C>A uc003kvb.1 + 20 3067 c.3067C>A c.(3067-3069)CCC>ACC p.P1023T ADAMTS19_uc010jdh.1_RNA NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 1023 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|breast(2)|lung(1)|skin(1) 9 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) CTGCATTGGGCCCAAGCCCGC 0.582 NA 39 11 5.44703e-19 7.88514e-19 0.009718 1 0 CHSY3 337876 broad.mit.edu 37 5 129520888 129520888 + Nonsense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:129520888G>T uc003kvd.2 + 3 2053 c.2053G>T c.(2053-2055)GAA>TAA p.E685* NM_175856 NP_787052 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 685 Lumenal (Potential). Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity ovary(2)|pancreas(1) 3 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) CCCCAAAGCAGAAATGACCCT 0.438 NA 36 2 4.65686e-17 6.48407e-17 0.003755 1 0 TRPC7 57113 broad.mit.edu 37 5 135601950 135601950 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:135601950G>C uc003lbn.1 - 4 1303 c.1300C>G c.(1300-1302)CAG>GAG p.Q434E TRPC7_uc010jef.1_Missense_Mutation_p.Q371E|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.Q365E|TRPC7_uc010jei.1_Missense_Mutation_p.Q310E|TRPC7_uc010jej.1_Intron NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, 435 Cytoplasmic (Potential). axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CAGGAGAACTGTGTGGTTTTC 0.378 NA 60 20 0 0 0.00361 0 0 TRPC7 57113 broad.mit.edu 37 5 135651404 135651405 + Nonsense_Mutation DNP GG GG TT TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:135651404_135651405GG>TT uc003lbn.1 - 2 843_844 c.840_841CC>AA c.(838-843)TGCCGA>TGAAGA p.C280* TRPC7_uc010jef.1_Nonsense_Mutation_p.C272*|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Intron|TRPC7_uc010jei.1_Intron|TRPC7_uc010jej.1_Intron NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, 281 Cytoplasmic (Potential). axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TCTGTGTCTCGGCACAGGTCCA 0.48 NA 21 4 0 0 0.004672 0 0 TRPC7 57113 broad.mit.edu 37 5 135692480 135692480 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:135692480T>A uc003lbn.1 - 1 596 c.593A>T c.(592-594)AAG>ATG p.K198M TRPC7_uc010jef.1_Missense_Mutation_p.K190M|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.K190M|TRPC7_uc010jei.1_Missense_Mutation_p.K190M|TRPC7_uc010jej.1_Translation_Start_Site NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, 199 Cytoplasmic (Potential). axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CTCATTGCACTTGCAGAAGTA 0.607 NA 54 12 0 0 0.00361 0 0 WNT8A 7478 broad.mit.edu 37 5 137420278 137420278 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:137420278G>T uc003lcd.1 + 3 199 c.194G>T c.(193-195)TGC>TTC p.C65F BRD8_uc003lcc.1_Intron|WNT8A_uc011cyj.1_Missense_Mutation_p.C83F|WNT8A_uc011cyk.1_Missense_Mutation_p.C83F NM_058244 NP_490645 Q9H1J5 WNT8A_HUMAN wingless-type MMTV integration site family, 65 brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity ovary(1)|lung(1)|breast(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) CGCTGGAACTGCCCTGAAAAT 0.527 NA 48 5 2.01872e-29 3.34263e-29 0.00361 1 0 PAIP2 51247 broad.mit.edu 37 5 138704432 138704432 + Missense_Mutation SNP A A T rs151272131 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:138704432A>T uc003led.2 + 4 506 c.329A>T c.(328-330)AAT>ATT p.N110I PAIP2_uc003lee.2_Missense_Mutation_p.N110I|PAIP2_uc003lef.2_Missense_Mutation_p.N110I|SLC23A1_uc003leh.2_Intron|SLC23A1_uc003leg.2_Intron NM_016480 NP_057564 Q9BPZ3 PAIP2_HUMAN poly(A) binding protein interacting protein 2 110 PABPC1-interacting motif-2 (PAM2). negative regulation of translational initiation cytoplasm protein binding|translation repressor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) GTCAAGAGCAATCTGAATCCA 0.388 NA 38 11 0 0 0.002522 0 0 PCDHA12 56137 broad.mit.edu 37 5 140255556 140255556 + Missense_Mutation SNP C C A rs17844352 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:140255556C>A uc003lic.2 + 1 626 c.499C>A c.(499-501)CTT>ATT p.L167I PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.L167I NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 167 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTAAACTCTCTTTTGACCTA 0.378 Pancreas(113;759 1672 13322 24104 50104) NA 47 14 8.78508e-14 1.1449e-13 0.00361 1 0 PCDHA13 56136 broad.mit.edu 37 5 140262281 140262281 + Missense_Mutation SNP C C A rs140980938 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:140262281C>A uc003lif.2 + 1 428 c.428C>A c.(427-429)GCA>GAA p.A143E PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.A143E|PCDHA13_uc003lid.2_Missense_Mutation_p.A143E NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 143 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATAATCATTGCAGAATCTAGA 0.493 Melanoma(147;1739 1852 5500 27947 37288) NA 58 15 5.39261e-20 7.93707e-20 0.00361 1 0 PCDHB2 56133 broad.mit.edu 37 5 140475165 140475166 + Missense_Mutation DNP CC CC GA TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:140475165_140475166CC>GA uc003lil.2 + 1 929_930 c.791_792CC>GA c.(790-792)GCC>GGA p.A264G PCDHB2_uc003lim.1_5'UTR NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 264 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCCAGGTTGCCATCGTCTCTG 0.47 NA 35 8 0 0 0.004672 0 0 PCDHB3 56132 broad.mit.edu 37 5 140482211 140482211 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:140482211G>A uc003lio.2 + 1 1978 c.1978G>A c.(1978-1980)GTG>ATG p.V660M uc003lin.2_5'Flank NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 660 Extracellular (Potential).|Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CACGCTGCATGTGCTCCTGGT 0.711 NA 109 18 0 0 0.00361 0 0 PCDHB5 26167 broad.mit.edu 37 5 140515629 140515629 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:140515629C>A uc003liq.2 + 1 830 c.613C>A c.(613-615)CGG>AGG p.R205R NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN protocadherin beta 5 precursor 205 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCGGGAGGAGCGGCCTGAGCT 0.542 NA 76 8 7.46257e-40 1.31925e-39 0.00361 1 0 PCDHB16 57717 broad.mit.edu 37 5 140562593 140562593 + Silent SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:140562593T>C uc003liv.2 + 1 1614 c.459T>C c.(457-459)CCT>CCC p.P153P PCDHB16_uc010jfw.1_Intron NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN protocadherin beta 16 precursor 153 Extracellular (Potential).|Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTGAGTTCCCTCTGAATCATG 0.393 NA 21 7 0 0 0.010504 0 0 PCDHB10 56126 broad.mit.edu 37 5 140574112 140574112 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:140574112G>T uc003lix.2 + 1 2161 c.1987G>T c.(1987-1989)GTG>TTG p.V663L NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 663 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTTGCTCCTGGTGGACGGCTT 0.697 NA 89 19 5.56898e-48 1.00846e-47 0.00361 1 0 PCDHGA8 9708 broad.mit.edu 37 5 140774034 140774034 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:140774034G>T uc003lkd.1 + 1 2552 c.1654G>T c.(1654-1656)GTG>TTG p.V552L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.V552L NM_032088 NP_114477 Q9Y5G5 PCDG8_HUMAN protocadherin gamma subfamily A, 8 isoform 1 552 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGCCTGTTCGTGCTGGACCA 0.637 NA 120 28 3.59472e-76 6.74315e-76 0.00361 1 0 PCDHGA8 9708 broad.mit.edu 37 5 140774159 140774159 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:140774159G>T uc003lkd.1 + 1 2677 c.1779G>T c.(1777-1779)GCG>GCT p.A593A PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Silent_p.A593A NM_032088 NP_114477 Q9Y5G5 PCDG8_HUMAN protocadherin gamma subfamily A, 8 isoform 1 593 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGTGGTGGCGGTGGACAGAG 0.692 NA 39 73 1.57019e-19 2.29189e-19 0.007835 1 0 PCDHGB5 56101 broad.mit.edu 37 5 140778168 140778168 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:140778168A>T uc003lkf.1 + 1 474 c.474A>T c.(472-474)GAA>GAT p.E158D PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.E158D NM_018925 NP_061748 Q9Y5G0 PCDGH_HUMAN protocadherin gamma subfamily B, 5 isoform 1 158 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGTAGCAGAAGATGCAGATA 0.378 NA 44 16 0 0 0.002522 0 0 PCDH1 5097 broad.mit.edu 37 5 141244741 141244741 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:141244741G>A uc003llq.2 - 3 1272 c.1155C>T c.(1153-1155)CCC>CCT p.P385P PCDH1_uc003llp.2_Silent_p.P385P|PCDH1_uc011dbf.1_Silent_p.P363P NM_002587 NP_002578 Q08174 PCDH1_HUMAN protocadherin 1 isoform 1 precursor 385 Extracellular (Potential).|Cadherin 3. cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding ovary(5) 5 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) TCTCAATGGTGGGGGCATTGT 0.582 Ovarian(132;1609 1739 4190 14731 45037) NA 78 12 0 0 0.00361 0 0 PCDH12 51294 broad.mit.edu 37 5 141334615 141334615 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:141334615G>C uc003llx.2 - 1 4013 c.2802C>G c.(2800-2802)AGC>AGG p.S934R NM_016580 NP_057664 Q9NPG4 PCD12_HUMAN protocadherin 12 precursor 934 Cytoplasmic (Potential). neuron recognition integral to plasma membrane calcium ion binding ovary(3) 3 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCGGACCAGGCTCCGCAGGA 0.627 NA 33 8 0 0 0.005524 0 0 TCERG1 10915 broad.mit.edu 37 5 145838514 145838514 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:145838514A>T uc003lob.2 + 4 546 c.506A>T c.(505-507)CAG>CTG p.Q169L TCERG1_uc003loc.2_Missense_Mutation_p.Q169L|TCERG1_uc011dbt.1_Missense_Mutation_p.Q169L NM_006706 NP_006697 O14776 TCRG1_HUMAN transcription elongation regulator 1 isoform 1 169 Ala/Gln-rich. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity ovary(1)|skin(1) 2 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAGGTTATTCAGCAATCAGAA 0.264 NA 65 18 0 0 0.00361 0 0 PPP2R2B 5521 broad.mit.edu 37 5 146017943 146017943 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:146017943G>T uc003loe.2 - 6 1186 c.661C>A c.(661-663)CTC>ATC p.L221I PPP2R2B_uc010jgm.2_Missense_Mutation_p.L210I|PPP2R2B_uc003log.3_Missense_Mutation_p.L221I|PPP2R2B_uc003lof.3_Missense_Mutation_p.L221I|PPP2R2B_uc003loi.3_Missense_Mutation_p.L224I|PPP2R2B_uc003loh.3_Missense_Mutation_p.L221I|PPP2R2B_uc003loj.3_Missense_Mutation_p.L201I|PPP2R2B_uc003lok.3_Missense_Mutation_p.L210I|PPP2R2B_uc011dbu.1_Missense_Mutation_p.L227I|PPP2R2B_uc011dbv.1_Missense_Mutation_p.L279I NM_004576 NP_004567 Q00005 2ABB_HUMAN beta isoform of regulatory subunit B55, protein 221 WD 4. apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity ovary(1)|prostate(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACCTCCGTGAGCTCCTCCATG 0.552 NA 24 21 0.00465635 0.00480031 0.004656 1 0 SPINK9 643394 broad.mit.edu 37 5 147718114 147718114 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:147718114G>A uc003lpe.1 + 3 216 c.161G>A c.(160-162)TGT>TAT p.C54Y uc003lpb.1_Intron NM_001040433 NP_001035523 Q5DT21 ISK9_HUMAN serine peptidase inhibitor, Kazal type 9 54 Kazal-like. extracellular region protein binding|serine-type endopeptidase inhibitor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATCCAATTTGTGGATCTGAT 0.279 NA 14 8 0 0 0.006122 0 0 PCYOX1L 78991 broad.mit.edu 37 5 148743716 148743716 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:148743716G>A uc003lqk.2 + 3 475 c.413G>A c.(412-414)GGC>GAC p.G138D PCYOX1L_uc003lql.2_Missense_Mutation_p.G121D|PCYOX1L_uc010jgz.2_Missense_Mutation_p.G121D|PCYOX1L_uc003lqm.2_Missense_Mutation_p.G20D|PCYOX1L_uc003lqn.2_Missense_Mutation_p.G48D NM_024028 NP_076933 Q8NBM8 PCYXL_HUMAN prenylcysteine oxidase 1 like precursor 138 prenylcysteine catabolic process extracellular region oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGCACTATGGCATCAGCTTC 0.612 Ovarian(62;1136 1477 27277 27495) NA 38 8 0 0 0.005524 0 0 CSNK1A1 1452 broad.mit.edu 37 5 148930456 148930456 + Silent SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:148930456C>G uc003lqx.1 - 1 552 c.72G>C c.(70-72)GGG>GGC p.G24G CSNK1A1_uc011dcc.1_5'Flank|CSNK1A1_uc003lqv.1_5'Flank|CSNK1A1_uc003lqw.1_Silent_p.G24G|CSNK1A1_uc003lqy.1_Silent_p.G24G|CSNK1A1_uc010jha.1_Silent_p.G24G NM_001892 NP_001883 P48729 KC1A_HUMAN casein kinase 1, alpha 1 isoform 2 24 ATP (By similarity).|Protein kinase. cell division|mitosis|Wnt receptor signaling pathway centrosome|condensed chromosome kinetochore|cytosol|nuclear speck ATP binding|protein binding|protein binding|protein serine/threonine kinase activity breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) AGGAGCCAGACCCGATCTTCC 0.537 Colon(5;64 69 1309 10383) NA 29 97 0 0 0.009535 0 0 CSF1R 1436 broad.mit.edu 37 5 149435882 149435882 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:149435882G>C uc003lrl.2 - 17 2537 c.2342C>G c.(2341-2343)GCG>GGG p.A781G CSF1R_uc011dcd.1_Intron|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.A781G NM_005211 NP_005202 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor precursor 781 Protein kinase.|Cytoplasmic (Potential). cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1) 54 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) CACGTTACGCGCTGCCACGTC 0.572 NA 18 30 0 0 0.006122 0 0 MYOZ3 91977 broad.mit.edu 37 5 150056314 150056314 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:150056314C>A uc003lss.2 + 7 1220 c.633C>A c.(631-633)CCC>CCA p.P211P MYOZ3_uc003lsr.2_Silent_p.P211P NM_001122853 NP_001116325 Q8TDC0 MYOZ3_HUMAN myozenin 3 211 sarcomere protein binding skin(1) 1 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCACTTTTCCCAGGCCAGGCA 0.637 NA 87 18 5.00163e-47 9.04033e-47 0.00361 1 0 FAT2 2196 broad.mit.edu 37 5 150905469 150905469 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:150905469G>A uc003lue.3 - 17 10379 c.10366C>T c.(10366-10368)CCA>TCA p.P3456S GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.P149S NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 3456 Extracellular (Potential).|Cadherin 31. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCATTCTCTGGAGAATCTGGG 0.567 NA 20 18 0 0 0.008871 0 0 GLRA1 2741 broad.mit.edu 37 5 151266335 151266335 + Missense_Mutation SNP C C T rs142888296 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:151266335C>T uc003lut.2 - 3 486 c.199G>A c.(199-201)GTG>ATG p.V67M GLRA1_uc003lur.2_Missense_Mutation_p.V67M|GLRA1_uc003lus.2_Translation_Start_Site NM_001146040 NP_001139512 P23415 GLRA1_HUMAN glycine receptor, alpha 1 isoform 1 precursor 67 Extracellular (Probable). muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity ovary(1)|central_nervous_system(1) 2 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TTGCAGCTCACGTTCACTGGG 0.488 NA 57 12 0 0 0.00361 0 0 KIF4B 285643 broad.mit.edu 37 5 154397119 154397119 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:154397119C>T uc010jih.1 + 1 3860 c.3700C>T c.(3700-3702)CAC>TAC p.H1234Y NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 1234 Interaction with PRC1 (By similarity).|Globular (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AGAAGAGGCCCACTGAAGTTG 0.478 NA 3 1 0 0 0.004672 0 0 ADAM19 8728 broad.mit.edu 37 5 156964947 156964947 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:156964947G>T uc003lwz.2 - 4 368 c.304C>A c.(304-306)CCT>ACT p.P102T ADAM19_uc003lww.1_5'UTR|ADAM19_uc011ddr.1_Missense_Mutation_p.P33T NM_033274 NP_150377 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 preproprotein 102 proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTGGTTTGAGGGTTACCACTT 0.443 NA 20 14 3.62473e-10 4.41729e-10 0.001882 1 0 RNF145 153830 broad.mit.edu 37 5 158596030 158596030 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:158596030C>A uc003lxp.2 - 8 1285 c.972G>T c.(970-972)CTG>CTT p.L324L RNF145_uc011ddy.1_Silent_p.L338L|RNF145_uc003lxo.1_Silent_p.L352L|RNF145_uc011ddz.1_Silent_p.L341L|RNF145_uc010jiq.1_Silent_p.L354L NM_144726 NP_653327 Q96MT1 RN145_HUMAN ring finger protein 145 324 Helical; (Potential). integral to membrane zinc ion binding ovary(3)|lung(1)|skin(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCTGCACTGCCAGGATTAACA 0.378 NA 34 15 1.69901e-12 2.16747e-12 0.005524 1 0 ADRA1B 147 broad.mit.edu 37 5 159344455 159344455 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:159344455C>A uc003lxt.1 + 1 716 c.543C>A c.(541-543)CTC>CTA p.L181L NM_000679 NP_000670 P35368 ADA1B_HUMAN alpha-1B-adrenergic receptor 181 Helical; Name=4; (By similarity). cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade integral to plasma membrane alpha1-adrenergic receptor activity lung(1) 1 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656) TCGGGCCTCTCCTTGGGTGGA 0.602 NA 29 6 7.38237e-10 8.91786e-10 0.00632 1 0 SLIT3 6586 broad.mit.edu 37 5 168114084 168114084 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:168114084C>T uc003mab.2 - 30 3634 c.3214G>A c.(3214-3216)GAG>AAG p.E1072K SLIT3_uc010jjg.2_Missense_Mutation_p.E1079K NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 1072 EGF-like 4. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTGTCTGTCTCACAGAGCTTC 0.597 Ovarian(29;311 847 10864 17279 24903) NA 13 5 0 0 0.001368 0 0 SLIT3 6586 broad.mit.edu 37 5 168123328 168123328 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:168123328G>A uc003mab.2 - 28 3471 c.3051C>T c.(3049-3051)AAC>AAT p.N1017N SLIT3_uc010jjg.2_Silent_p.N1024N NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 1017 EGF-like 3. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TACACACGTAGTTGTTGATCC 0.517 Ovarian(29;311 847 10864 17279 24903) NA 35 13 0 0 0.004878 0 0 SLIT3 6586 broad.mit.edu 37 5 168180966 168180966 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:168180966C>A uc003mab.2 - 17 2152 c.1732G>T c.(1732-1734)GAT>TAT p.D578Y SLIT3_uc010jjg.2_Missense_Mutation_p.D578Y NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 578 LRR 13. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCTGCTCCATCGAAAGCTCCC 0.532 Ovarian(29;311 847 10864 17279 24903) NA 8 6 5.18039e-06 5.70876e-06 0.00308 1 0 DOCK2 1794 broad.mit.edu 37 5 169145713 169145713 + Nonsense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:169145713C>T uc003maf.2 + 22 2265 c.2185C>T c.(2185-2187)CAA>TAA p.Q729* DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Nonsense_Mutation_p.Q221* NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 729 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CAGAGGGGAGCAATGTGAGCC 0.388 NA 34 5 0 0 0.002445 0 0 DOCK2 1794 broad.mit.edu 37 5 169507216 169507216 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:169507216C>A uc003maf.2 + 50 5296 c.5216C>A c.(5215-5217)GCG>GAG p.A1739E DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.A1231E|DOCK2_uc003mah.2_Missense_Mutation_p.A295E NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1739 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCGGAGCATGCGGCCATCCCC 0.557 NA 40 13 1.15183e-24 1.81848e-24 0.009718 1 0 STC2 8614 broad.mit.edu 37 5 172752989 172752989 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:172752989T>A uc003mco.1 - 2 1486 c.176A>T c.(175-177)AAC>ATC p.N59I STC2_uc003mcn.1_5'UTR NM_003714 NP_003705 O76061 STC2_HUMAN stanniocalcin 2 precursor 59 cell surface receptor linked signaling pathway|cell-cell signaling extracellular region hormone activity skin(2)|ovary(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) ATCGCCAGCGTTGACCAAACA 0.443 NA 112 25 0 0 0.00361 0 0 STC2 8614 broad.mit.edu 37 5 172755091 172755091 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:172755091C>A uc003mco.1 - 1 1416 c.106G>T c.(106-108)GAC>TAC p.D36Y STC2_uc003mcn.1_5'Flank NM_003714 NP_003705 O76061 STC2_HUMAN stanniocalcin 2 precursor 36 cell surface receptor linked signaling pathway|cell-cell signaling extracellular region hormone activity skin(2)|ovary(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GAGCTCCTGTCTTGGGGACCC 0.667 NA 72 20 2.32478e-39 4.09483e-39 0.00361 1 0 CDHR2 54825 broad.mit.edu 37 5 176011191 176011191 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:176011191G>A uc003mem.1 + 18 2125 c.2059G>A c.(2059-2061)GAC>AAC p.D687N CDHR2_uc003men.1_Missense_Mutation_p.D687N NM_017675 NP_060145 Q9BYE9 CDHR2_HUMAN protocadherin LKC precursor 687 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding ovary(2) 2 CTGACTGCAGGACATCAATGA 0.537 NA 29 11 0 0 0.008361 0 0 HK3 3101 broad.mit.edu 37 5 176308945 176308945 + Missense_Mutation SNP C C A rs141851478 byFrequency TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:176308945C>A uc003mfa.2 - 16 2329 c.2237G>T c.(2236-2238)AGG>ATG p.R746M HK3_uc003mez.2_Missense_Mutation_p.R302M NM_002115 NP_002106 P52790 HXK3_HUMAN hexokinase 3 746 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 7 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CAGCCCACACCTCTGCTTGCC 0.637 NA 49 10 8.04919e-23 1.23647e-22 0.00361 1 0 FGFR4 2264 broad.mit.edu 37 5 176520231 176520231 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:176520231C>T uc003mfl.2 + 9 1317 c.1150C>T c.(1150-1152)CTG>TTG p.L384L FGFR4_uc003mfm.2_Silent_p.L384L|FGFR4_uc011dfu.1_Intron|FGFR4_uc011dfw.1_3'UTR|FGFR4_uc003mfo.2_Intron NM_002011 NP_002002 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 isoform 1 384 Helical; (Potential). insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1) 16 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) GGCTGTGCTCCTGCTGCTGGC 0.706 NA TSP Lung(9;0.080) 34 7 0 0 0.002445 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178553074 178553074 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:178553074C>A uc003mjw.2 - 18 2675 c.2675G>T c.(2674-2676)CGT>CTT p.R892L NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 892 TSP type-1 2. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) ACAGAAGCCACGGTGTACCAT 0.657 NA 56 17 2.5401e-28 4.17024e-28 0.00361 1 0 CANX 821 broad.mit.edu 37 5 179146685 179146685 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:179146685G>C uc003mkk.2 + 9 1105 c.928G>C c.(928-930)GCT>CCT p.A310P CANX_uc011dgp.1_Missense_Mutation_p.A345P|CANX_uc010jlb.1_Missense_Mutation_p.A246P|CANX_uc003mkl.2_Missense_Mutation_p.A310P|CANX_uc011dgq.1_Missense_Mutation_p.A202P NM_001746 NP_001737 P27824 CALX_HUMAN calnexin precursor 310 4 X approximate repeats.|P domain (Extended arm) (By similarity).|Lumenal (Potential). post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome calcium ion binding|sugar binding|unfolded protein binding 0 all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) AGATGCCCCTGCTAAGATTCC 0.438 NA 12 5 0 0 0.000978 0 0 DUSP22 56940 broad.mit.edu 37 6 350826 350826 + Silent SNP T T G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:350826T>G uc003msx.2 + 8 952 c.513T>G c.(511-513)GCT>GCG p.A171A DUSP22_uc003msy.1_3'UTR NM_020185 NP_064570 Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 171 apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) TCACAGCCGCTCCGGGAATTC 0.398 NA 19 67 0 0 0.00333 0 0 RREB1 6239 broad.mit.edu 37 6 7230981 7230981 + Silent SNP G G T rs139120793 byFrequency TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:7230981G>T uc003mxc.2 + 10 3039 c.2649G>T c.(2647-2649)TCG>TCT p.S883S RREB1_uc003mxb.2_Silent_p.S883S|RREB1_uc010jnx.2_Silent_p.S883S NM_001003698 NP_001003698 Q92766 RREB1_HUMAN ras responsive element binding protein 1 isoform 883 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1) 11 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CCCATGTCTCGATCAAGTTGG 0.612 NA 15 75 4.7546e-09 5.65871e-09 0.004007 1 0 DSP 1832 broad.mit.edu 37 6 7583592 7583592 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:7583592G>A uc003mxp.1 + 24 6376 c.6097G>A c.(6097-6099)GAG>AAG p.E2033K DSP_uc003mxq.1_Missense_Mutation_p.E1434K NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 2033 Plectin 1.|Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CTCTTTGGTAGAGGCCAAGAG 0.478 NA 72 40 0 0 0.00361 0 0 GCNT2 2651 broad.mit.edu 37 6 10529945 10529945 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:10529945G>T uc010joo.2 + 3 1352 c.801G>T c.(799-801)GTG>GTT p.V267V GCNT2_uc010jol.2_Intron|GCNT2_uc010jom.2_Intron|GCNT2_uc010jop.2_Intron|GCNT2_uc003mza.2_Intron|GCNT2_uc003mzc.3_Silent_p.V266V|GCNT2_uc010jon.2_Silent_p.V266V NM_145649 NP_663624 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, 267 Lumenal (Potential). Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity ovary(2) 2 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) CGGCCTACGTGGCTCTCACAA 0.453 NA 30 131 1.75199e-13 2.26948e-13 0.007291 1 0 DEK 7913 broad.mit.edu 37 6 18250037 18250037 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:18250037C>A uc003ncr.1 - 7 800 c.607G>T c.(607-609)GGC>TGC p.G203C DEK_uc011djf.1_Missense_Mutation_p.G169C|DEK_uc011djg.1_RNA NM_003472 NP_003463 P35659 DEK_HUMAN DEK oncogene isoform 1 203 chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|histone binding kidney(1) 1 Ovarian(93;0.00769)|Breast(50;0.0495) all_hematologic(90;0.053) OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332) TTTTTACTGCCTTTGCTACAA 0.348 NA T NUP214 AML 20 28 8.00594e-06 8.79744e-06 0.007413 1 0 ID4 3400 broad.mit.edu 37 6 19838366 19838366 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:19838366G>T uc003ncw.2 + 1 750 c.381G>T c.(379-381)CCG>CCT p.P127P NM_001546 NP_001537 P47928 ID4_HUMAN inhibitor of DNA binding 4, dominant negative 127 transcription corepressor activity 0 Ovarian(93;0.0355)|Breast(50;0.0654)|all_epithelial(95;0.12) OV - Ovarian serous cystadenocarcinoma(7;0.00659)|all cancers(50;0.0327)|Epithelial(50;0.0621) CACACCACCCGGCCGGGACCT 0.602 Esophageal Squamous(13;105 518 19978 28644 46870) NA 14 20 3.27435e-08 3.81942e-08 0.00245 1 0 NRSN1 140767 broad.mit.edu 37 6 24134624 24134624 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:24134624C>A uc010jpq.1 + 3 306 c.69C>A c.(67-69)CGC>CGA p.R23R NM_080723 NP_542454 Q8IZ57 NRSN1_HUMAN neurensin 1 23 nervous system development growth cone|integral to membrane|neuronal cell body|transport vesicle 0 GTTACCAGCGCTATGGAGTCC 0.522 NA 11 62 0.000978159 0.00102147 0.000978 1 0 FAM65B 9750 broad.mit.edu 37 6 24865573 24865573 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:24865573C>G uc003neo.1 - 7 696 c.520G>C c.(520-522)GAG>CAG p.E174Q FAM65B_uc011djs.1_Missense_Mutation_p.E203Q|FAM65B_uc011dju.1_Missense_Mutation_p.E208Q|FAM65B_uc003nep.2_Missense_Mutation_p.E174Q|FAM65B_uc011djt.1_Missense_Mutation_p.E174Q NM_014722 NP_055537 Q9Y4F9 FA65B_HUMAN hypothetical protein LOC9750 isoform 1 174 cell differentiation|muscle organ development cytoskeleton|filopodium|mitochondrion binding ovary(1) 1 GTCAGACTCTCCCGGGCAGCT 0.512 NA 40 75 0 0 0.007835 0 0 LRRC16A 55604 broad.mit.edu 37 6 25450173 25450173 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:25450173G>T uc011djw.1 + 6 795 c.419G>T c.(418-420)AGT>ATT p.S140I LRRC16A_uc010jpx.2_Missense_Mutation_p.S140I|LRRC16A_uc010jpy.2_Missense_Mutation_p.S140I|LRRC16A_uc003nez.1_5'Flank NM_017640 NP_060110 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 140 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1) 4 CGCCTGGCTAGTCTCCAGGCG 0.493 NA 29 28 4.39465e-27 7.12426e-27 0.002836 1 0 SLC17A3 10786 broad.mit.edu 37 6 25862500 25862500 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:25862500A>T uc003nfi.3 - 3 374 c.264T>A c.(262-264)TTT>TTA p.F88L SLC17A3_uc003nfk.3_Missense_Mutation_p.F88L|SLC17A3_uc011djz.1_Missense_Mutation_p.F88L|SLC17A3_uc011dka.1_Missense_Mutation_p.F88L NM_006632 NP_006623 O00476 NPT4_HUMAN solute carrier family 17 (sodium phosphate), 88 glucose-6-phosphate transport|urate metabolic process apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity 0 TTAGGCCACCAAATGAGTCAA 0.413 NA 23 55 0 0 0.00333 0 0 HIST1H2AD 3013 broad.mit.edu 37 6 26199333 26199333 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:26199333C>A uc003ngw.2 - 1 139 c.139G>T c.(139-141)GGC>TGC p.G47C HIST1H3D_uc003ngv.2_5'UTR|HIST1H2BF_uc003ngx.2_5'Flank NM_021065 NP_066409 P20671 H2A1D_HUMAN histone cluster 1, H2ad 47 nucleosome assembly nucleosome|nucleus DNA binding 0 all_hematologic(11;0.196) ACTGGCGCGCCGGCCCCGACT 0.667 NA 45 75 4.18559e-23 6.45014e-23 0.00361 1 0 ZNF165 7718 broad.mit.edu 37 6 28053315 28053315 + Silent SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:28053315T>A uc003nkg.2 + 3 1141 c.57T>A c.(55-57)CTT>CTA p.L19L ZNF165_uc003nkh.2_Silent_p.L19L|ZNF165_uc003nki.3_Silent_p.L19L NM_003447 NP_003438 P49910 ZN165_HUMAN zinc finger protein 165 19 viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 ATGAAGGACTTCTGATAGTGA 0.438 NA 188 83 0 0 0.00361 0 0 PGBD1 84547 broad.mit.edu 37 6 28269009 28269009 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:28269009G>T uc003nky.2 + 7 1748 c.1378G>T c.(1378-1380)GTG>TTG p.V460L PGBD1_uc003nkz.2_Missense_Mutation_p.V460L NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 460 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity ovary(4) 4 AATGAGGTGTGTGTTTGGTGT 0.378 NA 27 102 1.26454e-06 1.41775e-06 0.005443 1 0 SCAND3 114821 broad.mit.edu 37 6 28541454 28541454 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:28541454C>T uc003nlo.2 - 4 2830 c.2212G>A c.(2212-2214)GAT>AAT p.D738N NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 738 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 tatgaaggatcatatttccga 0 NA 11 38 0 0 0.000978 0 0 OR2J2 26707 broad.mit.edu 37 6 29141996 29141996 + Missense_Mutation SNP C C A rs149241559 by1000genomes TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:29141996C>A uc011dlm.1 + 1 686 c.584C>A c.(583-585)GCA>GAA p.A195E NM_030905 NP_112167 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, 195 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GACACCCATGCAAATGAGCTG 0.478 NA 130 71 8.54645e-47 1.54043e-46 0.00361 1 0 LTB 4050 broad.mit.edu 37 6 31548635 31548635 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:31548635C>A uc003nuk.2 - 4 594 c.586G>T c.(586-588)GGG>TGG p.G196W LTB_uc003nul.2_3'UTR NM_002341 NP_002332 Q06643 TNFC_HUMAN lymphotoxin-beta isoform a 196 Extracellular (Potential). cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding 0 Infliximab(DB00065)|Simvastatin(DB00641) GGCCCGTACCCTTGTCTCCTG 0.692 NA 9 36 3.09899e-07 3.5297e-07 0.004482 1 0 VARS 7407 broad.mit.edu 37 6 31749678 31749678 + Nonsense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:31749678C>A uc003nxe.2 - 19 2716 c.2293G>T c.(2293-2295)GAG>TAG p.E765* VARS_uc003nxf.1_5'Flank|VARS_uc011doi.1_RNA NM_006295 NP_006286 P26640 SYVC_HUMAN valyl-tRNA synthetase 765 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 L-Valine(DB00161) GCTGCCTTCTCCCGGGCCTCC 0.627 NA 186 102 5.28991e-74 9.90386e-74 0.00361 1 0 NOTCH4 4855 broad.mit.edu 37 6 32168997 32168997 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:32168997G>T uc003obb.2 - 22 4175 c.4036C>A c.(4036-4038)CGG>AGG p.R1346R NOTCH4_uc003oba.2_Silent_p.R9R|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 1346 Extracellular (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 TCTTCAGCCCGGGCCCCAGGA 0.622 NA 44 55 9.9998e-32 1.68757e-31 0.002852 1 0 NOTCH4 4855 broad.mit.edu 37 6 32188025 32188025 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:32188025T>A uc003obb.2 - 7 1335 c.1196A>T c.(1195-1197)CAG>CTG p.Q399L NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc003obc.2_Missense_Mutation_p.Q399L NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 399 EGF-like 10.|Extracellular (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 ATGGCACGGCTGGCTCAGACA 0.617 NA 22 74 0 0 0.001882 0 0 C6orf10 10665 broad.mit.edu 37 6 32261590 32261590 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:32261590T>A uc011dpy.1 - 12 1033 c.860A>T c.(859-861)AAA>ATA p.K287I C6orf10_uc011dpx.1_Missense_Mutation_p.K69I NM_006781 NP_006772 Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 287 integral to membrane skin(1) 1 CATTCCTATTTTGTCTTTCTC 0.393 NA 243 103 0 0 0.00361 0 0 BTNL2 56244 broad.mit.edu 37 6 32370752 32370752 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:32370752G>A uc003obg.1 - 3 669 c.669C>T c.(667-669)CCC>CCT p.P223P BTNL2_uc010jty.1_Intron|BTNL2_uc010jtz.1_Intron|BTNL2_uc010jua.1_Intron NM_019602 NP_062548 Q9UIR0 BTNL2_HUMAN butyrophilin-like 2 223 Ig-like V-type 2.|Extracellular (Potential). integral to membrane central_nervous_system(1) 1 CAGTGAGGACGGGGTTGTGGA 0.587 NA 4 35 0 0 0.009096 0 0 COL11A2 1302 broad.mit.edu 37 6 33145200 33145200 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:33145200G>T uc003ocx.1 - 23 2188 c.1960C>A c.(1960-1962)CCT>ACT p.P654T COL11A2_uc010jul.1_Silent_p.P33P|COL11A2_uc003ocy.1_Missense_Mutation_p.P568T|COL11A2_uc003ocz.1_Missense_Mutation_p.P547T NM_080680 NP_542411 P13942 COBA2_HUMAN collagen, type XI, alpha 2 isoform 1 654 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging ovary(3)|skin(2) 5 TGGGTCCCAGGGGTGCCCTGT 0.557 Melanoma(1;90 116 3946 5341 17093) NA 15 36 1.67942e-08 1.97446e-08 0.006122 1 0 COL11A2 1302 broad.mit.edu 37 6 33157167 33157167 + Silent SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:33157167A>G uc003ocx.1 - 2 390 c.162T>C c.(160-162)TGT>TGC p.C54C COL11A2_uc003ocy.1_Silent_p.C54C|COL11A2_uc003ocz.1_Silent_p.C54C|COL11A2_uc003oda.2_Silent_p.C54C NM_080680 NP_542411 P13942 COBA2_HUMAN collagen, type XI, alpha 2 isoform 1 54 TSP N-terminal. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging ovary(3)|skin(2) 5 CATCAGCTGGACAGATGCCTT 0.627 Melanoma(1;90 116 3946 5341 17093) NA 49 21 0 0 0.00361 0 0 CLPS 1208 broad.mit.edu 37 6 35765033 35765033 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:35765033G>T uc003ole.1 - 1 70 c.33C>A c.(31-33)GCC>GCA p.A11A CLPS_uc003olf.1_Silent_p.A11A NM_001832 NP_001823 P04118 COL_HUMAN colipase preproprotein 11 lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process extracellular region 0 CCACAGAGAGGGCGACAAGCA 0.597 Melanoma(167;2962 3494 37796) NA 15 126 3.52763e-06 3.90747e-06 0.00499 1 0 PXT1 222659 broad.mit.edu 37 6 36359620 36359620 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:36359620T>C uc003omd.1 - 2 113 c.83A>G c.(82-84)GAT>GGT p.D28G NM_152990 NP_694535 Q8NFP0 PXT1_HUMAN peroxisomal, testis specific 1 28 peroxisome 0 GACAAAATGATCTAGTGCATC 0.343 NA 26 90 0 0 0.002096 0 0 BTBD9 114781 broad.mit.edu 37 6 38545399 38545399 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:38545399T>A uc003ooa.3 - 7 1707 c.1131A>T c.(1129-1131)TTA>TTT p.L377F BTBD9_uc003ony.3_Missense_Mutation_p.L309F|BTBD9_uc010jwv.2_Missense_Mutation_p.L309F|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Missense_Mutation_p.L377F NM_052893 NP_443125 Q96Q07 BTBD9_HUMAN BTB (POZ) domain containing 9 isoform a 377 cell adhesion 0 CTGGAAAATATAATTTCTGCC 0.363 NA 56 40 0 0 0.00361 0 0 DNAH8 1769 broad.mit.edu 37 6 38738285 38738285 + Nonsense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:38738285G>T uc003ooe.1 + 10 1663 c.1063G>T c.(1063-1065)GAA>TAA p.E355* NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 TGAGGTTTCAGAAATGTATAT 0.363 NA 17 31 2.23348e-06 2.47965e-06 0.004007 1 0 DNAH8 1769 broad.mit.edu 37 6 38891824 38891824 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:38891824T>A uc003ooe.1 + 71 10797 c.10197T>A c.(10195-10197)AAT>AAA p.N3399K uc003oof.1_Intron NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 GTCCTTTCAATCAGATATTTA 0.418 NA 23 94 0 0 0.00333 0 0 LRFN2 57497 broad.mit.edu 37 6 40360088 40360088 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:40360088C>T uc003oph.1 - 3 2429 c.1964G>A c.(1963-1965)CGC>CAC p.R655H NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 655 Cytoplasmic (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) CCCCATCAGGCGGTCAAGGCT 0.711 NA 5 10 0 0 0.001168 0 0 TRERF1 55809 broad.mit.edu 37 6 42225903 42225904 + Missense_Mutation DNP CC CC AA TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:42225903_42225904CC>AA uc003osd.2 - 10 2868_2869 c.2305_2306GG>TT c.(2305-2307)GGG>TTG p.G769L TRERF1_uc011duq.1_Missense_Mutation_p.G686L|TRERF1_uc003osb.2_Missense_Mutation_p.G525L|TRERF1_uc003osc.2_Missense_Mutation_p.G525L|TRERF1_uc003ose.2_Missense_Mutation_p.G789L NM_033502 NP_277037 Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 769 Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding ovary(3)|pancreas(1)|skin(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CTCTCCAGGCCCTGGGGTGACC 0.421 NA 13 33 0 0 0.004672 0 0 ABCC10 89845 broad.mit.edu 37 6 43400872 43400872 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:43400872G>T uc003ouy.1 + 3 1369 c.1154G>T c.(1153-1155)GGC>GTC p.G385V ABCC10_uc003ouz.1_Missense_Mutation_p.G342V|ABCC10_uc010jyo.1_5'Flank NM_033450 NP_258261 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C, member 10 385 ABC transmembrane type-1 1. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(6)|central_nervous_system(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) AACCTACTAGGCACTGACTCT 0.607 NA 20 57 3.8784e-16 5.3122e-16 0.001882 1 0 SLC29A1 2030 broad.mit.edu 37 6 44199133 44199133 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:44199133G>C uc003owu.1 + 9 1128 c.799G>C c.(799-801)GGA>CGA p.G267R SLC29A1_uc003owv.1_Missense_Mutation_p.G267R|SLC29A1_uc003oww.1_Missense_Mutation_p.G346R|SLC29A1_uc003owx.1_Missense_Mutation_p.G267R|SLC29A1_uc003owy.1_Missense_Mutation_p.G267R|SLC29A1_uc003owz.1_Missense_Mutation_p.G267R NM_004955 NP_004946 Q99808 S29A1_HUMAN equilibrative nucleoside transporter 1 267 Cytoplasmic (Potential). nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction nucleoside transmembrane transporter activity|protein binding large_intestine(2)|skin(1) 3 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) Troglitazone(DB00197) AGAGGAATCTGGAGTTTCAGT 0.478 NA 5 4 0 0 0.001168 0 0 CDC5L 988 broad.mit.edu 37 6 44390392 44390392 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:44390392C>G uc003oxl.2 + 10 1509 c.1250C>G c.(1249-1251)TCT>TGT p.S417C NM_001253 NP_001244 Q99459 CDC5L_HUMAN CDC5-like 417 Interaction with PPP1R8. cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus DNA binding|RNA binding lung(3)|ovary(1)|kidney(1)|skin(1) 6 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) AGGACTCCTTCTAATGGAGCT 0.408 NA 28 83 0 0 0.008361 0 0 TFAP2D 83741 broad.mit.edu 37 6 50712878 50712878 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:50712878C>A uc003paf.2 + 6 1454 c.942C>A c.(940-942)GCC>GCA p.A314A TFAP2D_uc011dwt.1_RNA NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 beta-like 1 314 H-S-H (helix-span-helix), dimerization. DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|breast(1) 7 Lung NSC(77;0.0334) AGTTTCCAGCCAAAGCAGTAG 0.458 NA 27 21 6.32553e-13 8.11783e-13 0.004656 1 0 GSTA1 2938 broad.mit.edu 37 6 52659012 52659012 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:52659012G>A uc003paz.2 - 5 437 c.325C>T c.(325-327)CTG>TTG p.L109L NM_145740 NP_665683 P08263 GSTA1_HUMAN glutathione S-transferase alpha 1 109 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity ovary(1) 1 Lung NSC(77;0.118) Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143) CATACGGGCAGAAGGAGGATC 0.388 NA 50 132 0 0 0.00361 0 0 GSTA5 221357 broad.mit.edu 37 6 52697680 52697680 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:52697680T>A uc003pba.1 - 6 593 c.523A>T c.(523-525)ATC>TTC p.I175F NM_153699 NP_714543 Q7RTV2 GSTA5_HUMAN glutathione S-transferase alpha 5 175 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity ovary(1) 1 Lung NSC(77;0.0912) Glutathione(DB00143) AAGCTGGAGATAAGACTCGAG 0.522 NA 66 55 0 0 0.00361 0 0 C6orf142 90523 broad.mit.edu 37 6 53989559 53989559 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:53989559C>A uc003pcg.3 + 3 621 c.508C>A c.(508-510)CTG>ATG p.L170M C6orf142_uc003pcf.2_Missense_Mutation_p.L170M|C6orf142_uc003pch.3_Missense_Mutation_p.L108M|C6orf142_uc011dwz.1_Missense_Mutation_p.L129M|C6orf142_uc011dxa.1_Missense_Mutation_p.L181M NM_138569 NP_612636 Q5VWP3 MLIP_HUMAN hypothetical protein LOC90523 170 nuclear envelope|PML body protein binding 0 Lung NSC(77;0.0317) CTCGTCCAGTCTGGTCTCTGA 0.552 NA 18 49 3.52763e-06 3.90747e-06 0.00499 1 0 LGSN 51557 broad.mit.edu 37 6 63990034 63990034 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:63990034C>A uc003peh.2 - 4 1456 c.1422G>T c.(1420-1422)CAG>CAT p.Q474H LGSN_uc003pei.2_3'UTR NM_016571 NP_057655 Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase 474 glutamine biosynthetic process glutamate-ammonia ligase activity skin(2) 2 L-Glutamic Acid(DB00142) CTCCTAGAGCCTGTCTCAGGC 0.393 NA 19 42 2.94398e-08 3.44236e-08 0.007413 1 0 COL19A1 1310 broad.mit.edu 37 6 70639585 70639585 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:70639585C>T uc003pfc.1 + 6 776 c.659C>T c.(658-660)CCT>CTT p.P220L COL19A1_uc010kam.1_Missense_Mutation_p.P116L NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 220 TSP N-terminal. cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 GATGGCAAGCCTGTGGATGTA 0.348 NA 9 46 0 0 0.000978 0 0 COL19A1 1310 broad.mit.edu 37 6 70909428 70909428 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:70909428C>G uc003pfc.1 + 49 3328 c.3211C>G c.(3211-3213)CCT>GCT p.P1071A NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 1071 Triple-helical region 6 (COL6). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 ACCAGGAGACCCTGGACCCCA 0.473 NA 49 18 0 0 0.00361 0 0 FAM135A 57579 broad.mit.edu 37 6 71235546 71235546 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:71235546C>G uc003pfj.2 + 13 2892 c.2759C>G c.(2758-2760)CCT>CGT p.P920R FAM135A_uc003pfi.2_Missense_Mutation_p.P724R|FAM135A_uc003pfh.2_Missense_Mutation_p.P707R|FAM135A_uc003pfl.2_Missense_Mutation_p.P587R|FAM135A_uc003pfn.2_Intron|FAM135A_uc003pfo.1_Missense_Mutation_p.P291R|FAM135A_uc010kan.1_5'Flank NM_001162529 NP_001156001 Q9P2D6 F135A_HUMAN hypothetical protein LOC57579 isoform c 920 central_nervous_system(1) 1 ATTAAAGACCCTTTACAATTT 0.368 NA 15 37 0 0 0.003163 0 0 SMAP1 60682 broad.mit.edu 37 6 71567637 71567637 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:71567637G>T uc003pfr.2 + 10 1222 c.974G>T c.(973-975)GGA>GTA p.G325V SMAP1_uc003pfs.2_Missense_Mutation_p.G298V|SMAP1_uc010kao.2_Missense_Mutation_p.G298V|SMAP1_uc010kap.2_Missense_Mutation_p.G315V NM_001044305 NP_001037770 Q8IYB5 SMAP1_HUMAN stromal membrane-associated GTPase-activating 325 regulation of ARF GTPase activity plasma membrane ARF GTPase activator activity|zinc ion binding 0 GTATTTATGGGACCCACAAAT 0.443 NA 37 26 4.90274e-10 5.9485e-10 0.00623 1 0 RIMS1 22999 broad.mit.edu 37 6 72806748 72806748 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:72806748G>T uc003pga.2 + 3 419 c.342G>T c.(340-342)CCG>CCT p.P114P NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 114 RabBD.|FYVE-type. calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) ACGATGCTCCGACTTGTGGAA 0.502 NA 25 10 5.35356e-11 6.63704e-11 0.00278 1 0 COL12A1 1303 broad.mit.edu 37 6 75861589 75861589 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:75861589C>G uc003phs.2 - 20 4160 c.3994G>C c.(3994-3996)GCT>CCT p.A1332P COL12A1_uc003pht.2_Missense_Mutation_p.A168P NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 1332 VWFA 3. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 GTACCAATAGCAAACAGCTCC 0.413 NA 73 48 0 0 0.00361 0 0 TBX18 9096 broad.mit.edu 37 6 85446925 85446925 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:85446925C>A uc003pkl.1 - 8 1302 c.1302G>T c.(1300-1302)TTG>TTT p.L434F TBX18_uc010kbq.1_Intron NM_001080508 NP_001073977 O95935 TBX18_HUMAN T-box 18 434 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|pancreas(2)|lung(1) 5 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) AGGTCTCTGCCAAAGATGTGC 0.607 NA 37 8 3.76114e-14 4.93825e-14 0.004289 1 0 GJB7 375519 broad.mit.edu 37 6 87993968 87993968 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:87993968G>T uc003plo.2 - 3 1009 c.663C>A c.(661-663)CTC>CTA p.L221L NM_198568 NP_940970 Q6PEY0 CXB7_HUMAN gap junction protein, beta 7, 25kDa 221 Cytoplasmic (Potential). cell communication connexon complex|integral to membrane 0 all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323) BRCA - Breast invasive adenocarcinoma(108;0.0167) CTCACACACTGAGGACTTGAG 0.423 NA 24 5 3.7963e-18 5.41449e-18 0.00333 1 0 MDN1 23195 broad.mit.edu 37 6 90460092 90460092 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:90460092C>T uc003pnn.1 - 24 3503 c.3387G>A c.(3385-3387)GGG>GGA p.G1129G NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 1129 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) AGACAAGCTTCCCTGAGGAGT 0.423 NA 93 16 0 0 0.00361 0 0 EPHA7 2045 broad.mit.edu 37 6 93956558 93956558 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:93956558A>G uc003poe.2 - 15 2919 c.2678T>C c.(2677-2679)ATG>ACG p.M893T EPHA7_uc003pof.2_Missense_Mutation_p.M888T|EPHA7_uc011eac.1_Missense_Mutation_p.M889T NM_004440 NP_004431 Q15375 EPHA7_HUMAN ephrin receptor EphA7 precursor 893 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1) 28 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) GTTTCGAATCATTTTGTCTAG 0.418 NA 38 12 0 0 0.006999 0 0 GRIK2 2898 broad.mit.edu 37 6 102069914 102069914 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:102069914C>A uc003pqp.3 + 2 455 c.206C>A c.(205-207)ACA>AAA p.T69K GRIK2_uc003pqn.2_Missense_Mutation_p.T69K|GRIK2_uc003pqo.3_Missense_Mutation_p.T69K|GRIK2_uc010kcw.2_Missense_Mutation_p.T69K NM_021956 NP_068775 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 69 Extracellular (Potential). glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|pancreas(1)|breast(1)|skin(1) 5 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) AGAAACAGAACATTGCTACCC 0.368 NA 31 11 4.74835e-14 6.22176e-14 0.002096 1 0 FOXO3 2309 broad.mit.edu 37 6 108984932 108984932 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:108984932G>T uc003psk.2 + 3 1212 c.896G>T c.(895-897)AGC>ATC p.S299I FOXO3_uc003psn.2_Intron|FOXO3_uc003psm.2_Missense_Mutation_p.S299I|FOXO3_uc011ean.1_Missense_Mutation_p.S79I|FOXO3_uc010kdj.1_Missense_Mutation_p.S79I NM_201559 NP_963853 O43524 FOXO3_HUMAN forkhead box O3A 299 PGSPTSRSSDELDAWTDFRSRTNSNASTVSGRLSPIMAS -> AWQPHVNAAVMSWMRGRTSVHAPILTPAQSVAACRPSW QV (in Ref. 5; CAA04860). antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding central_nervous_system(4)|lung(2) 6 all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152) Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718) ACGTCACGCAGCAGTGATGAG 0.627 NA 22 4 1.22574e-08 1.44812e-08 0.002299 1 0 SLC22A16 85413 broad.mit.edu 37 6 110777975 110777975 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:110777975C>A uc003puf.2 - 2 366 c.299G>T c.(298-300)AGG>ATG p.R100M SLC22A16_uc003pue.2_Missense_Mutation_p.R81M|SLC22A16_uc003pug.2_Missense_Mutation_p.R100M NM_033125 NP_149116 Q86VW1 S22AG_HUMAN solute carrier family 22, member 16 100 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity ovary(1) 1 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) CCTGCTACACCTTGAGAGCTC 0.473 NA 134 34 1.67419e-43 2.99804e-43 0.00361 1 0 HS3ST5 222537 broad.mit.edu 37 6 114378639 114378639 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:114378639G>T uc003pwg.3 - 2 855 c.823C>A c.(823-825)CTG>ATG p.L275M uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Missense_Mutation_p.L275M NM_153612 NP_705840 Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 275 Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding ovary(1)|pancreas(1) 2 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) CTTGGAGGCAGATTTAGGAAC 0.428 NA 30 11 8.88839e-20 1.30327e-19 0.002096 1 0 GPRC6A 222545 broad.mit.edu 37 6 117128190 117128190 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:117128190G>T uc003pxj.1 - 3 700 c.678C>A c.(676-678)AAC>AAA p.N226K GPRC6A_uc003pxk.1_Missense_Mutation_p.N226K|GPRC6A_uc003pxl.1_Missense_Mutation_p.N226K NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, 226 Extracellular (Potential). response to amino acid stimulus G-protein coupled receptor activity ovary(4)|skin(2) 6 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) TTATAAAAGTGTTAAGAGCCA 0.393 NA 72 22 2.84776e-26 4.57439e-26 0.00361 1 0 RFX6 222546 broad.mit.edu 37 6 117239224 117239224 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:117239224G>T uc003pxm.2 + 10 1060 c.997G>T c.(997-999)GCA>TCA p.A333S NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 333 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding ovary(1)|pancreas(1)|skin(1) 3 ACTCATTCCTGCAACAATGCA 0.289 NA 24 43 1.75199e-13 2.26948e-13 0.007291 1 0 C6orf204 387119 broad.mit.edu 37 6 118886876 118886876 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:118886876A>G uc003pxz.1 - 3 1424 c.836T>C c.(835-837)ATG>ACG p.M279T C6orf204_uc003pya.1_Missense_Mutation_p.M282T|C6orf204_uc003pyb.2_Missense_Mutation_p.M279T|C6orf204_uc011ebj.1_Missense_Mutation_p.M177T|C6orf204_uc003pyc.2_Missense_Mutation_p.M282T|C6orf204_uc011ebl.1_Missense_Mutation_p.M177T NM_001042475 NP_001035940 Q5SZL2 CF204_HUMAN chromosome 6 open reading frame 204 isoform a 279 centrosome breast(1) 1 all_cancers(87;0.0814)|all_epithelial(87;0.115) GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618) TTGACCAAGCATTAAATATTT 0.463 NA 18 20 0 0 0.00499 0 0 L3MBTL3 84456 broad.mit.edu 37 6 130415511 130415511 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:130415511A>T uc003qbt.2 + 18 1905 c.1735A>T c.(1735-1737)AGT>TGT p.S579C L3MBTL3_uc003qbu.2_Missense_Mutation_p.S554C NM_032438 NP_115814 Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 isoform a 579 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) GGGCCCTCACAGGTATGTGGT 0.403 NA 33 2 0 0 0.002836 0 0 MAP7 9053 broad.mit.edu 37 6 136687148 136687148 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:136687148G>A uc003qgz.2 - 10 1244 c.998C>T c.(997-999)TCC>TTC p.S333F MAP7_uc011edf.1_Missense_Mutation_p.S318F|MAP7_uc011edg.1_Missense_Mutation_p.S363F|MAP7_uc010kgu.2_Missense_Mutation_p.S355F|MAP7_uc011edh.1_Missense_Mutation_p.S318F|MAP7_uc010kgv.2_Missense_Mutation_p.S355F|MAP7_uc010kgs.2_Missense_Mutation_p.S187F|MAP7_uc011edi.1_Missense_Mutation_p.S187F|MAP7_uc010kgq.1_Missense_Mutation_p.S239F|MAP7_uc003qha.1_Missense_Mutation_p.S296F|MAP7_uc010kgr.2_Missense_Mutation_p.S187F NM_003980 NP_003971 Q14244 MAP7_HUMAN microtubule-associated protein 7 333 Pro-rich. establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity 0 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) AAGAGACTTGGACGGAAGCCT 0.572 NA 21 7 0 0 0.008871 0 0 IFNGR1 3459 broad.mit.edu 37 6 137519525 137519525 + Silent SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:137519525C>G uc003qho.2 - 7 1216 c.1113G>C c.(1111-1113)CTG>CTC p.L371L IFNGR1_uc011edm.1_Silent_p.L343L NM_000416 NP_000407 P15260 INGR1_HUMAN interferon gamma receptor 1 precursor 371 Cytoplasmic (Potential). regulation of interferon-gamma-mediated signaling pathway|response to virus integral to plasma membrane interferon-gamma receptor activity upper_aerodigestive_tract(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389) Interferon gamma-1b(DB00033) CTATTGGAGTCAGATGGCTGC 0.428 NA 31 73 0 0 0.002445 0 0 CCDC28A 25901 broad.mit.edu 37 6 139094885 139094885 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:139094885T>A uc003qie.2 + 1 229 c.74T>A c.(73-75)CTG>CAG p.L25Q uc003qid.1_5'Flank NM_015439 NP_056254 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 25 0 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) GCATGGAGGCTGTACCTCTTA 0.622 NA 109 36 0 0 0.00361 0 0 REPS1 85021 broad.mit.edu 37 6 139226204 139226204 + Silent SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:139226204T>C uc003qii.2 - 20 2967 c.2388A>G c.(2386-2388)CTA>CTG p.L796L REPS1_uc003qig.3_Silent_p.L769L|REPS1_uc011edr.1_Silent_p.L795L|REPS1_uc003qij.2_Silent_p.L705L|REPS1_uc003qik.2_Silent_p.L402L NM_031922 NP_114128 Q96D71 REPS1_HUMAN RALBP1 associated Eps domain containing 1 796 Interaction with RALBP1 (By similarity). coated pit|plasma membrane calcium ion binding|SH3 domain binding lung(1)|breast(1) 2 GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548) AATTGGCTTATAGGTGAGAGA 0.398 NA 13 5 0 0 0.001855 0 0 SASH1 23328 broad.mit.edu 37 6 148852668 148852668 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:148852668G>T uc003qme.1 + 13 1910 c.1435G>T c.(1435-1437)GGC>TGC p.G479C SASH1_uc011eeb.1_Missense_Mutation_p.G240C|SASH1_uc003qmf.1_Intron NM_015278 NP_056093 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 479 protein binding central_nervous_system(1) 1 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) GCAGGACTCGGGCCTTGATGG 0.522 NA 43 7 2.01872e-29 3.34263e-29 0.00361 1 0 TIAM2 26230 broad.mit.edu 37 6 155498024 155498024 + Silent SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:155498024T>C uc003qqb.2 + 12 3709 c.2436T>C c.(2434-2436)ACT>ACC p.T812T TIAM2_uc003qqe.2_Silent_p.T812T|TIAM2_uc010kjj.2_Silent_p.T345T|TIAM2_uc003qqf.2_Silent_p.T188T|TIAM2_uc011efl.1_Silent_p.T148T|TIAM2_uc003qqg.2_Silent_p.T124T NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 812 RBD. apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) AAATCCAGACTTATGTCCACT 0.428 NA 23 17 0 0 0.00278 0 0 Unknown 0 broad.mit.edu 37 6 160183048 160183048 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:160183048C>A uc003qsp.2 - 1 317 c.122G>T c.(121-123)GGC>GTC p.G41V ACAT2_uc010kjy.2_5'UTR|ACAT2_uc011efw.1_5'Flank Homo sapiens cDNA clone IMAGE:5287966. NA CCGCGGCAGGCCTGTGGGCTG 0.667 NA 11 1 9.70103e-10 1.17042e-09 0.008291 1 0 PLG 5340 broad.mit.edu 37 6 161173271 161173271 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:161173271C>T uc003qtm.3 + 18 2313 c.2250C>T c.(2248-2250)GCC>GCT p.A750A NM_000301 NP_000292 P00747 PLMN_HUMAN plasminogen 750 Peptidase S1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity p.A750V(1) skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) GGCATTTGGCCGGAGGCACTG 0.502 NA 19 35 0 0 0.007413 0 0 PARK2 5071 broad.mit.edu 37 6 161970005 161970005 + Nonsense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:161970005C>A uc003qtx.3 - 9 1098 c.964G>T c.(964-966)GAG>TAG p.E322* PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Nonsense_Mutation_p.E131*|PARK2_uc003qtw.3_Nonsense_Mutation_p.E131*|PARK2_uc003qty.3_Nonsense_Mutation_p.E294*|PARK2_uc003qtz.3_Nonsense_Mutation_p.E173*|PARK2_uc010kke.1_Nonsense_Mutation_p.E341*|PARK2_uc011egf.1_5'UTR NM_004562 NP_004553 O60260 PRKN2_HUMAN parkin isoform 1 322 IBR-type. aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding upper_aerodigestive_tract(1) 1 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) AGGACACACTCCTCTGCACCA 0.572 NA 14 37 9.05144e-12 1.14042e-11 0.001855 1 0 TTLL2 83887 broad.mit.edu 37 6 167754848 167754848 + Missense_Mutation SNP A A C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:167754848A>C uc003qvs.1 + 3 1548 c.1460A>C c.(1459-1461)CAG>CCG p.Q487P TTLL2_uc011egr.1_RNA NM_031949 NP_114155 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 487 protein modification process ATP binding|tubulin-tyrosine ligase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) CCTGCCTCCCAGCTGGAAGGA 0.517 NA 17 27 0 0 0.00499 0 0 WDR27 253769 broad.mit.edu 37 6 170033143 170033143 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:170033143C>T uc003qwx.2 - 21 2643 c.2123G>A c.(2122-2124)CGG>CAG p.R708Q WDR27_uc003qwv.1_RNA|WDR27_uc010kkw.1_Missense_Mutation_p.R708Q|WDR27_uc003qwy.2_Missense_Mutation_p.R581Q A2RRH5 WDR27_HUMAN RecName: Full=WD repeat-containing protein 27; 678 WD 7. pancreas(1) 1 Breast(66;1.53e-05)|Ovarian(120;0.216) OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168) GGTCCTGTTCCGGCCAGCTGC 0.522 NA 15 2 0 0 0.003163 0 0 INTS1 26173 broad.mit.edu 37 7 1523719 1523719 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:1523719G>A uc003skn.2 - 25 3450 c.3349C>T c.(3349-3351)CTG>TTG p.L1117L INTS1_uc003skp.1_Silent_p.L464L NM_001080453 NP_001073922 Q8N201 INT1_HUMAN integrator complex subunit 1 1117 snRNA processing integral to membrane|integrator complex|nuclear membrane 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) AGAGCGCTCAGCACGGCGTCC 0.652 NA 69 8 0 0 0.00361 0 0 SDK1 221935 broad.mit.edu 37 7 3991467 3991467 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:3991467G>T uc003smx.2 + 7 1204 c.1065G>T c.(1063-1065)GCG>GCT p.A355A NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 355 Ig-like C2-type 3. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CGACGTCCGCGGACACCGGGC 0.612 NA 45 10 1.00776e-21 1.52623e-21 0.00361 1 0 SDK1 221935 broad.mit.edu 37 7 4249774 4249774 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:4249774A>T uc003smx.2 + 38 5658 c.5519A>T c.(5518-5520)GAG>GTG p.E1840V SDK1_uc010kso.2_Missense_Mutation_p.E1096V|SDK1_uc003smy.2_Missense_Mutation_p.E327V NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1840 Fibronectin type-III 12. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GTGGTGTACGAGCCCTTGGCC 0.642 NA 37 4 0 0 0.004289 0 0 MEOX2 4223 broad.mit.edu 37 7 15725606 15725606 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:15725606C>T uc003stc.2 - 1 703 c.422G>A c.(421-423)GGG>GAG p.G141E MEOX2_uc011jxw.1_Missense_Mutation_p.G141E NM_005924 NP_005915 P50222 MEOX2_HUMAN mesenchyme homeobox 2 141 blood circulation|multicellular organismal development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) GCACGCGGCCCCAGTCGGGGT 0.697 Esophageal Squamous(140;197 1769 16409 18257 29929) NA 75 34 0 0 0.00361 0 0 HDAC9 9734 broad.mit.edu 37 7 19015535 19015535 + Silent SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:19015535A>T uc003sui.2 + 24 3170 c.3129A>T c.(3127-3129)CTA>CTT p.L1043L HDAC9_uc003sue.2_Silent_p.L1040L|HDAC9_uc003suj.2_Silent_p.L999L|HDAC9_uc003suk.2_Silent_p.L288L NM_178425 NP_848512 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 5 Error:Variant_position_missing_in_Q9UKV0_after_alignment B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) TGGCCTCCCTAACAGTGGATG 0.537 NA 30 19 0 0 0.009535 0 0 ABCB5 340273 broad.mit.edu 37 7 20782625 20782625 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:20782625G>A uc003suw.3 + 16 2361 c.1815G>A c.(1813-1815)GGG>GGA p.G605G ABCB5_uc010kuh.2_Silent_p.G1050G NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 605 ATP (Potential).|Cytoplasmic (Potential).|ABC transporter 2. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 CATTTGTGGGGAGCAGCGGCT 0.478 NA 13 37 0 0 0.001368 0 0 DNAH11 8701 broad.mit.edu 37 7 21784174 21784174 + Nonsense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:21784174T>A uc003svc.2 + 51 8325 c.8294T>A c.(8293-8295)TTG>TAG p.L2765* NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2765 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 GATTGTGATTTGTTTCAGAGA 0.378 NA Kartagener_syndrome 40 106 0 0 0.00623 0 0 DNAH11 8701 broad.mit.edu 37 7 21827194 21827194 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:21827194T>A uc003svc.2 + 61 9969 c.9938T>A c.(9937-9939)TTC>TAC p.F3313Y NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3313 Stalk (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 ATCATTAAATTCTATGAGGTA 0.388 NA Kartagener_syndrome 15 11 0 0 0.003163 0 0 DNAH11 8701 broad.mit.edu 37 7 21901563 21901563 + Silent SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:21901563C>G uc003svc.2 + 70 11347 c.11316C>G c.(11314-11316)ACC>ACG p.T3772T NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3772 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 AGAGCATCACCCATGCTGTCT 0.517 NA Kartagener_syndrome 10 30 0 0 0.008291 0 0 CREB5 9586 broad.mit.edu 37 7 28857757 28857757 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:28857757C>A uc003szq.2 + 10 1714 c.1324C>A c.(1324-1326)CCA>ACA p.P442T CREB5_uc003szo.2_Missense_Mutation_p.P409T|CREB5_uc003szr.2_Missense_Mutation_p.P435T|CREB5_uc003szs.2_Missense_Mutation_p.P303T NM_182898 NP_878901 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 442 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2) 2 TAAAGACTGCCCAATAACAGC 0.358 NA 62 37 7.577e-32 1.28094e-31 0.00361 1 0 CHN2 1124 broad.mit.edu 37 7 29539621 29539621 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:29539621T>A uc003szz.2 + 9 1315 c.878T>A c.(877-879)GTG>GAG p.V293E CHN2_uc011jzs.1_Missense_Mutation_p.V368E|CHN2_uc010kva.2_Missense_Mutation_p.V63E|CHN2_uc010kvb.2_Intron|CHN2_uc010kvc.2_Missense_Mutation_p.V258E|CHN2_uc011jzt.1_Missense_Mutation_p.V306E|CHN2_uc010kvd.2_Missense_Mutation_p.V149E|CHN2_uc011jzu.1_Missense_Mutation_p.V278E|CHN2_uc010kvg.2_Missense_Mutation_p.V157E|CHN2_uc010kvh.2_Intron|CHN2_uc010kvi.2_Missense_Mutation_p.V157E|CHN2_uc010kve.2_Missense_Mutation_p.V157E|CHN2_uc003taa.2_Missense_Mutation_p.V157E|CHN2_uc010kvf.2_Intron|CHN2_uc010kvj.2_Missense_Mutation_p.V112E|CHN2_uc010kvk.2_Intron|CHN2_uc010kvl.2_RNA|CHN2_uc010kvm.2_Missense_Mutation_p.V112E|CHN2_uc011jzv.1_Missense_Mutation_p.V86E NM_004067 NP_004058 P52757 CHIO_HUMAN beta chimerin isoform 2 293 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|membrane GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(2) 2 AGACCCATGGTGGTAGACATA 0.383 Ovarian(1;44 48 13232 18918 31480) NA 12 39 0 0 0.000978 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31123758 31123758 + Missense_Mutation SNP A A G rs138870097 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:31123758A>G uc003tca.1 + 7 554 c.331A>G c.(331-333)ATG>GTG p.M111V ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.M90V|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.M111V|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.M111V|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.M111V|ADCYAP1R1_uc003tcf.1_5'Flank NM_001118 NP_001109 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 111 Extracellular (Potential). activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity ovary(1) 1 TGCTGCAGACATGGGAGTGGT 0.473 Ovarian(44;225 1186 2158 11092) NA 68 26 0 0 0.00361 0 0 BMPER 168667 broad.mit.edu 37 7 34091553 34091553 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:34091553T>A uc011kap.1 + 8 871 c.757T>A c.(757-759)TAC>AAC p.Y253N NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN BMP-binding endothelial regulator precursor 253 VWFC 4. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space ovary(2)|central_nervous_system(1) 3 CTCATTTCTGTACGATAACTG 0.473 NA 99 58 0 0 0.00361 0 0 ANLN 54443 broad.mit.edu 37 7 36438687 36438687 + Splice_Site SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:36438687G>T uc003tff.2 + 3 377 c.173_splice c.e3-1 p.E58_splice ANLN_uc011kaz.1_Intron|ANLN_uc003tfg.2_Splice_Site_p.E58_splice|ANLN_uc010kxe.2_Splice_Site_p.E58_splice NM_018685 NP_061155 Q9NQW6 ANLN_HUMAN anillin, actin binding protein cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding ovary(2)|skin(1) 3 TTTTAATGTAGAGAAATCTTG 0.338 NA 15 37 1.3612e-06 1.52348e-06 0.003163 1 0 TXNDC3 51314 broad.mit.edu 37 7 37928015 37928015 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:37928015A>G uc003tfn.2 + 15 1756 c.1384A>G c.(1384-1386)ACA>GCA p.T462A NM_016616 NP_057700 Q8N427 TXND3_HUMAN thioredoxin domain containing 3 462 NDK 3. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 ACCTCATGCAACAAGTGAACA 0.318 Ovarian(108;903 1537 27096 29907 47400) NA Kartagener_syndrome 9 20 0 0 0.006214 0 0 INHBA 3624 broad.mit.edu 37 7 41730103 41730103 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:41730103C>A uc003thq.2 - 2 661 c.426G>T c.(424-426)AAG>AAT p.K142N INHBA_uc003thr.2_Missense_Mutation_p.K142N NM_002192 NP_002183 P08476 INHBA_HUMAN inhibin beta A precursor 142 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity lung(5)|ovary(1) 6 CACTGCCTTCCTTGGAAATCT 0.502 NA TSP Lung(11;0.080) 17 31 3.41278e-10 4.16424e-10 0.00499 1 0 HECW1 23072 broad.mit.edu 37 7 43484767 43484767 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:43484767G>A uc003tid.1 + 11 2601 c.1996G>A c.(1996-1998)GGG>AGG p.G666R HECW1_uc011kbi.1_Missense_Mutation_p.G666R NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 666 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 CAGGCAAGGCGGGGACCACAG 0.692 NA 29 17 0 0 0.008361 0 0 URGCP 55665 broad.mit.edu 37 7 43918044 43918044 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:43918044C>T uc003tiw.2 - 6 1075 c.1018G>A c.(1018-1020)GAC>AAC p.D340N URGCP_uc003tiu.2_Missense_Mutation_p.D297N|URGCP_uc003tiv.2_Missense_Mutation_p.D265N|URGCP_uc003tix.2_Missense_Mutation_p.D331N|URGCP_uc003tiy.2_Missense_Mutation_p.D297N|URGCP_uc003tiz.2_Missense_Mutation_p.D297N|URGCP_uc011kbj.1_Missense_Mutation_p.D297N NM_001077663 NP_001071131 Q8TCY9 URGCP_HUMAN up-regulated gene 4 isoform 3 340 cell cycle centrosome|nucleus GTP binding ovary(2)|liver(1)|skin(1) 4 GACCCGATGTCACCTCTCAGG 0.453 NA 20 73 0 0 0.001882 0 0 PGAM2 5224 broad.mit.edu 37 7 44105093 44105093 + Silent SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:44105093G>C uc003tjs.2 - 1 71 c.36C>G c.(34-36)GGC>GGG p.G12G NM_000290 NP_000281 P15259 PGAM2_HUMAN phosphoglycerate mutase 2 12 gluconeogenesis|glycolysis|striated muscle contraction cytosol 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity 0 ATGTGCTCTCGCCGTGCCGGA 0.622 NA 22 73 0 0 0.00278 0 0 PKD1L1 168507 broad.mit.edu 37 7 47874766 47874766 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:47874766C>A uc003tny.1 - 38 6019 c.6019G>T c.(6019-6021)GCC>TCC p.A2007S NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 2007 Helical; (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 AAGAGCTGGGCCCCTGGAGAA 0.602 NA 18 38 2.4624e-09 2.94878e-09 0.008871 1 0 ABCA13 154664 broad.mit.edu 37 7 48443368 48443368 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:48443368A>T uc003toq.2 + 39 11987 c.11962A>T c.(11962-11964)ATT>TTT p.I3988F ABCA13_uc010kys.1_Missense_Mutation_p.I1062F|ABCA13_uc003tos.1_Missense_Mutation_p.I814F|ABCA13_uc010kyt.1_RNA NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 3988 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 CTCCCTTGGCATTGCTTTCAT 0.537 NA 13 32 0 0 0.001368 0 0 ABCA13 154664 broad.mit.edu 37 7 48443404 48443404 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:48443404G>C uc003toq.2 + 39 12023 c.11998G>C c.(11998-12000)GAT>CAT p.D4000H ABCA13_uc010kys.1_Missense_Mutation_p.D1074H|ABCA13_uc003tos.1_Missense_Mutation_p.D826H|ABCA13_uc010kyt.1_RNA NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 4000 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 CGTGGTTCTGGATGAGCCCAC 0.577 NA 21 15 0 0 0.001882 0 0 COBL 23242 broad.mit.edu 37 7 51094361 51094361 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:51094361G>A uc003tpr.3 - 11 3571 c.3386C>T c.(3385-3387)ACG>ATG p.T1129M COBL_uc003tps.2_Missense_Mutation_p.T1186M|COBL_uc011kcl.1_Missense_Mutation_p.T1129M|COBL_uc003tpp.3_Missense_Mutation_p.T915M|COBL_uc003tpq.3_Missense_Mutation_p.T1070M|COBL_uc003tpo.3_Missense_Mutation_p.T671M NM_015198 NP_056013 O75128 COBL_HUMAN cordon-bleu homolog 1129 WH2 1. skin(3)|ovary(2) 5 Glioma(55;0.08) GTGTTCTGCCGTCTAGAATAT 0.507 NSCLC(189;2119 2138 12223 30818 34679) NA 14 242 0 0 0.00499 0 0 EGFR 1956 broad.mit.edu 37 7 55225444 55225444 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:55225444A>T uc003tqk.2 + 11 1542 c.1296A>T c.(1294-1296)CAA>CAT p.Q432H EGFR_uc003tqi.2_Missense_Mutation_p.Q432H|EGFR_uc003tqj.2_Missense_Mutation_p.Q432H|EGFR_uc010kzg.1_Missense_Mutation_p.Q387H|EGFR_uc011kco.1_Missense_Mutation_p.Q379H|EGFR_uc011kcp.1_RNA|EGFR_uc011kcq.1_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 432 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GGACCAAGCAACAGTAAGTTG 0.338 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 35 71 0 0 0.004878 0 0 EGFR 1956 broad.mit.edu 37 7 55242491 55242491 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:55242491A>T uc003tqk.2 + 19 2507 c.2261A>T c.(2260-2262)AAA>ATA p.K754I EGFR_uc010kzg.1_Missense_Mutation_p.K709I|EGFR_uc011kco.1_Missense_Mutation_p.K701I NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 754 Cytoplasmic (Potential).|Protein kinase. Missing (found in a lung cancer sample). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.S752_I759del(15)|p.T751_I759>N(8)|p.T751_I759>S(3)|p.A750_E758>P(3)|p.A750_K757del(2)|p.K754E(2)|p.A750_E758del(2)|p.T751_I759>NKA(2)|p.E749_E758>QP(2)|p.T751_E758del(2)|p.L747_K754>ST(1)|p.L747_N756>SKDD(1)|p.T751_E758>A(1)|p.T751_I759>REA(1)|p.L747_A755del(1)|p.P753_I759del(1)|p.K754R(1)|p.K754K(1)|p.K754A(1)|p.L747_K754>N(1)|p.A750_K754del(1)|p.L747_K754del(1)|p.L747_K754>GC(1)|p.S752_V769del(1)|p.L747_A755>SKS(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) ACATCTCCGAAAGCCAACAAG 0.493 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 36 46 0 0 0.003755 0 0 EGFR 1956 broad.mit.edu 37 7 55266410 55266410 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:55266410G>T uc003tqk.2 + 23 2948 c.2702G>T c.(2701-2703)GGG>GTG p.G901V EGFR_uc010kzg.1_Missense_Mutation_p.G856V|EGFR_uc011kco.1_Missense_Mutation_p.G848V NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 901 Cytoplasmic (Potential).|Protein kinase. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) ATCCTCTCAGGGGTGACTGTT 0.468 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 20 188 3.83957e-06 4.24813e-06 0.00278 1 0 FKBP9L 360132 broad.mit.edu 37 7 55750498 55750498 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:55750498G>T uc010kzl.2 - 6 706 c.606C>A c.(604-606)GCC>GCA p.A202A FKBP9L_uc010kzk.2_Silent_p.A91A|FKBP9L_uc003tqt.2_Silent_p.A91A|FKBP9L_uc011kcs.1_Silent_p.A91A NR_003949 SubName: Full=cDNA, FLJ79189, highly similar to FK506-binding protein 9 (EC 5.2.1.8); 0 ATGCCACCTGGGCGTGAATGT 0.532 NA 39 69 6.60958e-23 1.01694e-22 0.00361 1 0 SEPT14 346288 broad.mit.edu 37 7 55902167 55902168 + Missense_Mutation DNP TG TG CT TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:55902167_55902168TG>CT uc003tqz.2 - 6 787_788 c.670_671CA>AG c.(670-672)CAG>AGG p.Q224R NM_207366 NP_997249 Q6ZU15 SEP14_HUMAN septin 14 224 cell cycle|cell division septin complex GTP binding|protein binding 0 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TGTTGGGAGCTGATATATCTGG 0.371 NA 23 23 0 0 0.004672 0 0 WBSCR17 64409 broad.mit.edu 37 7 70880959 70880959 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:70880959G>T uc003tvy.2 + 4 674 c.674G>T c.(673-675)GGC>GTC p.G225V WBSCR17_uc003tvz.2_5'UTR NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 225 Catalytic subdomain A.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) AAGAGGGAAGGCCTGATCCGC 0.562 NA 11 8 0.00829132 0.00850685 0.008291 1 0 GNAT3 346562 broad.mit.edu 37 7 80091604 80091604 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:80091604G>C uc011kgu.1 - 7 745 c.745C>G c.(745-747)CTG>GTG p.L249V CD36_uc003uhc.2_Intron NM_001102386 NP_001095856 A8MTJ3 GNAT3_HUMAN guanine nucleotide binding protein, alpha 249 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity ovary(1) 1 CTGTTGAACAGGTGAAGGCTT 0.353 NA 2 2 0 0 0.004672 0 0 ZNF804B 219578 broad.mit.edu 37 7 88963186 88963186 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:88963186C>A uc011khi.1 + 4 1428 c.890C>A c.(889-891)TCC>TAC p.S297Y NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 297 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) AATACCATCTCCATAAACTCT 0.353 NA HNSCC(36;0.09) 23 9 4.26978e-12 5.40075e-12 0.00333 1 0 ZNF804B 219578 broad.mit.edu 37 7 88963308 88963308 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:88963308C>A uc011khi.1 + 4 1550 c.1012C>A c.(1012-1014)CCT>ACT p.P338T NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 338 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) AGATTTTACTCCTACCAGCAG 0.358 NA HNSCC(36;0.09) 29 7 3.65163e-15 4.918e-15 0.00632 1 0 SAMD9 54809 broad.mit.edu 37 7 92730661 92730661 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:92730661A>T uc003umf.2 - 3 5006 c.4750T>A c.(4750-4752)TAT>AAT p.Y1584N SAMD9_uc003umg.2_Missense_Mutation_p.Y1584N NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1584 cytoplasm ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TCAATGTCATAAGCAAGTGGG 0.388 NA 85 20 0 0 0.00361 0 0 SAMD9 54809 broad.mit.edu 37 7 92734566 92734566 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:92734566T>A uc003umf.2 - 3 1101 c.845A>T c.(844-846)AAG>ATG p.K282M SAMD9_uc003umg.2_Missense_Mutation_p.K282M NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 282 cytoplasm ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TCGAATGCACTTCTTTGCTTG 0.378 NA 47 5 0 0 0.003214 0 0 CCDC132 55610 broad.mit.edu 37 7 92905512 92905512 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:92905512A>T uc003umo.2 + 12 965 c.837A>T c.(835-837)CAA>CAT p.Q279H CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.Q249H|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Intron|CCDC132_uc003umn.2_Missense_Mutation_p.Q279H NM_017667 NP_060137 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 isoform a 279 0 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) ACTTCACCCAAGCCATTCACA 0.343 NA 58 15 0 0 0.00361 0 0 SLC25A13 10165 broad.mit.edu 37 7 95906644 95906644 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:95906644T>C uc003uof.3 - 3 267 c.76A>G c.(76-78)AGC>GGC p.S26G SLC25A13_uc003uog.3_Missense_Mutation_p.S26G|SLC25A13_uc011kik.1_5'UTR NM_014251 NP_055066 Q9UJS0 CMC2_HUMAN solute carrier family 25, member 13 isoform 2 26 ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to plasma membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity central_nervous_system(3)|skin(1) 4 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) TTCTCAATGCTTGCATACTGT 0.313 NA 12 0 0 0 0.001368 0 0 TAC1 6863 broad.mit.edu 37 7 97361940 97361940 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:97361940G>T uc003uop.3 + 2 262 c.16G>T c.(16-18)GCC>TCC p.A6S TAC1_uc003uoq.3_Missense_Mutation_p.A6S|TAC1_uc003uor.3_Missense_Mutation_p.A6S|TAC1_uc003uos.3_Missense_Mutation_p.A6S NM_003182 NP_003173 P20366 TKN1_HUMAN tachykinin 1 isoform beta precursor 6 detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway extracellular space 0 all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384) Bacitracin(DB00626) AATCCTCGTGGCCTTGGCAGT 0.443 NA 106 16 2.68928e-46 4.8382e-46 0.00361 1 0 BAIAP2L1 55971 broad.mit.edu 37 7 97991678 97991678 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:97991678C>T uc003upj.2 - 2 381 c.118G>A c.(118-120)GCT>ACT p.A40T NM_018842 NP_061330 Q9UHR4 BI2L1_HUMAN BAI1-associated protein 2-like 1 40 IMD. filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction cell junction|cytoskeleton|cytosol|nucleus actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding ovary(1) 1 all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126) STAD - Stomach adenocarcinoma(171;0.215) CCGTTTACAGCTTTCTCATAA 0.284 NA 33 6 0 0 0.003755 0 0 TRRAP 8295 broad.mit.edu 37 7 98562303 98562303 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:98562303A>T uc003upp.2 + 47 7069 c.6860A>T c.(6859-6861)GAC>GTC p.D2287V TRRAP_uc011kis.1_Missense_Mutation_p.D2269V|TRRAP_uc003upr.2_Missense_Mutation_p.D1986V NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 2287 Interaction with TP53. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) AGCTACATAGACAGGCTGATC 0.502 NA 59 9 0 0 0.00361 0 0 MUC17 140453 broad.mit.edu 37 7 100686953 100686953 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:100686953C>A uc003uxp.1 + 3 12309 c.12256C>A c.(12256-12258)CCT>ACT p.P4086T MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 4086 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) GACTGTGAACCCTGAGGCTGT 0.557 NA 87 15 2.33925e-33 3.99303e-33 0.00361 1 0 PIK3CG 5294 broad.mit.edu 37 7 106508261 106508261 + Silent SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:106508261G>C uc003vdv.3 + 2 340 c.255G>C c.(253-255)GCG>GCC p.A85A PIK3CG_uc003vdu.2_Silent_p.A85A|PIK3CG_uc003vdw.2_Silent_p.A85A NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 85 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 GCGTGGCGGCGGACTTCTACC 0.637 NA 29 10 0 0 0.009535 0 0 COG5 10466 broad.mit.edu 37 7 107002814 107002814 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:107002814C>A uc003ved.2 - 9 1505 c.980G>T c.(979-981)CGT>CTT p.R327L COG5_uc003vec.2_Missense_Mutation_p.R327L|COG5_uc003vee.2_Missense_Mutation_p.R327L NM_181733 NP_859422 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 isoform 327 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding central_nervous_system(2)|skin(2) 4 GAATGAGGCACGCAAAGCTGC 0.388 NA 28 3 2.42023e-17 3.39676e-17 0.003271 1 0 EIF3IP1 442720 broad.mit.edu 37 7 109599911 109599911 + Nonsense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:109599911C>A uc003vfp.1 - 1 360 c.187G>T c.(187-189)GAG>TAG p.E63* NR_003024 Homo sapiens eukaryotic translation initiation factor 3, subunit I pseudogene 1 (EIF3IP1), non-coding RNA. 0 TTCTGCTTCTCCATGGAGAAC 0.483 NA 12 16 6.40141e-05 6.88944e-05 0.000978 1 0 FOXP2 93986 broad.mit.edu 37 7 114269983 114269983 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:114269983C>G uc003vhb.2 + 5 894 c.520C>G c.(520-522)CAA>GAA p.Q174E FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.Q199E|FOXP2_uc003vha.2_Missense_Mutation_p.Q82E|FOXP2_uc011kmu.1_Missense_Mutation_p.Q191E|FOXP2_uc011kmv.1_Missense_Mutation_p.Q174E|FOXP2_uc010ljz.1_Missense_Mutation_p.Q82E|FOXP2_uc003vgt.1_RNA|FOXP2_uc003vgv.1_Missense_Mutation_p.Q174E|FOXP2_uc003vgx.2_Missense_Mutation_p.Q174E|FOXP2_uc003vhd.2_Missense_Mutation_p.Q174E|FOXP2_uc003vhc.2_Missense_Mutation_p.Q199E NM_014491 NP_055306 O15409 FOXP2_HUMAN forkhead box P2 isoform I 174 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q174*(1) ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1) 8 acaacaacaacaacagcagca 0.169 NA 18 5 0 0 0.00499 0 0 ST7 7982 broad.mit.edu 37 7 116869933 116869933 + Missense_Mutation SNP A A C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:116869933A>C uc011knn.1 + 14 1465 c.1460A>C c.(1459-1461)CAC>CCC p.H487P ST7_uc003vio.2_3'UTR|ST7_uc003viq.2_3'UTR|ST7_uc011knm.1_3'UTR|ST7_uc003vir.2_3'UTR NM_021908 NP_068708 Q9NRC1 ST7_HUMAN suppression of tumorigenicity 7 isoform b Error:Variant_position_missing_in_Q9NRC1_after_alignment integral to membrane binding central_nervous_system(1)|skin(1) 2 all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) TCCTCCACTCACCTCACCCGC 0.522 NA 6 46 0 0 0.003163 0 0 ANKRD7 56311 broad.mit.edu 37 7 117876982 117876982 + Splice_Site SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:117876982T>A uc003vji.2 + 5 885 c.712_splice c.e5+2 p.H238_splice NM_019644 NP_062618 Q92527 ANKR7_HUMAN ankyrin repeat domain 7 male gonad development 0 TTTTACTGCGTAAGTGATACT 0.398 NA 94 17 0 0 0.00361 0 0 C7orf58 79974 broad.mit.edu 37 7 120935540 120935540 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:120935540A>T uc003vjq.3 + 23 3362 c.2915A>T c.(2914-2916)AAA>ATA p.K972I NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 972 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) ATTAAAATGAAAAGATCAAGA 0.328 NA 15 1 0 0 0.003163 0 0 GRM8 2918 broad.mit.edu 37 7 126409993 126409993 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:126409993A>G uc003vlr.2 - 6 1594 c.1283T>C c.(1282-1284)ATT>ACT p.I428T GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.I428T|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_Missense_Mutation_p.I149T NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 428 Extracellular (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) ACAAAGGCCAATGTATCCAGG 0.408 NA HNSCC(24;0.065) 35 33 0 0 0.004289 0 0 ZNF800 168850 broad.mit.edu 37 7 127014753 127014753 + Nonsense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:127014753C>A uc003vlx.1 - 5 900 c.637G>T c.(637-639)GAG>TAG p.E213* ZNF800_uc003vlw.1_Nonsense_Mutation_p.E116*|ZNF800_uc003vly.1_Nonsense_Mutation_p.E213*|ZNF800_uc010lla.2_Nonsense_Mutation_p.E213* NM_176814 NP_789784 Q2TB10 ZN800_HUMAN zinc finger protein 800 213 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GCCTGCGACTCCTGAGGTTGT 0.433 NA 54 56 1.46357e-32 2.48949e-32 0.00361 1 0 SND1 27044 broad.mit.edu 37 7 127729610 127729610 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:127729610G>T uc003vmi.2 + 22 2714 c.2488G>T c.(2488-2490)GTG>TTG p.V830L SND1_uc010lle.2_Missense_Mutation_p.V483L NM_014390 NP_055205 Q7KZF4 SND1_HUMAN staphylococcal nuclease domain containing 1 830 gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity ovary(2)|central_nervous_system(1) 3 CCTGCTCAACGTGGAACACCT 0.597 NA 19 81 1.56452e-12 1.99722e-12 0.007413 1 0 FLNC 2318 broad.mit.edu 37 7 128478681 128478681 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:128478681T>C uc003vnz.3 + 8 1444 c.1235T>C c.(1234-1236)GTG>GCG p.V412A FLNC_uc003voa.3_Missense_Mutation_p.V412A NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 412 Filamin 2. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 GATGTTGCTGTGGTGATCGTG 0.652 NA 57 118 0 0 0.00361 0 0 FLNC 2318 broad.mit.edu 37 7 128486948 128486948 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:128486948G>C uc003vnz.3 + 24 4486 c.4277G>C c.(4276-4278)CGG>CCG p.R1426P FLNC_uc003voa.3_Missense_Mutation_p.R1426P NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 1426 Filamin 12. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 TTCGGGGGGCGGCCCATCCCA 0.592 NA 41 33 0 0 0.009718 0 0 FLNC 2318 broad.mit.edu 37 7 128498253 128498253 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:128498253G>T uc003vnz.3 + 47 8181 c.7972G>T c.(7972-7974)GTG>TTG p.V2658L FLNC_uc003voa.3_Missense_Mutation_p.V2625L NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 2658 Interaction with INPPL1.|Filamin 24.|Self-association site, tail (By similarity). cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 CTCCTTCACCGTGGACTGCAG 0.647 NA 29 24 2.12129e-23 3.28468e-23 0.00361 1 0 SMO 6608 broad.mit.edu 37 7 128843410 128843410 + Missense_Mutation SNP C C A rs143083812 byFrequency TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:128843410C>A uc003vor.2 + 2 797 c.517C>A c.(517-519)CGC>AGC p.R173S NM_005631 NP_005622 Q99835 SMO_HUMAN smoothened precursor 173 FZ.|Extracellular (Potential). adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1) 37 CACTCCTGACCGCTTCCCTGA 0.677 NA Mis skin basal cell 9 10 1.58986e-06 1.77324e-06 0.008291 1 0 AHCYL2 23382 broad.mit.edu 37 7 129062682 129062682 + Missense_Mutation SNP C C A rs148610666 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:129062682C>A uc011kov.1 + 13 1517 c.1463C>A c.(1462-1464)GCG>GAG p.A488E AHCYL2_uc003vot.2_Missense_Mutation_p.A487E|AHCYL2_uc003vov.2_Missense_Mutation_p.A385E|AHCYL2_uc011kow.1_Missense_Mutation_p.A386E|AHCYL2_uc011kox.1_Missense_Mutation_p.A385E NM_015328 NP_056143 Q96HN2 SAHH3_HUMAN S-adenosylhomocysteine hydrolase-like 2 isoform 488 one-carbon metabolic process adenosylhomocysteinase activity ovary(2) 2 GTGTTCCAGGCGAGTCTGCGG 0.502 Pancreas(160;1736 1964 29875 40941 45605) NA 20 58 4.96729e-08 5.77328e-08 0.008871 1 0 TSGA13 114960 broad.mit.edu 37 7 130357665 130357665 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:130357665G>T uc003vqi.2 - 6 896 c.439C>A c.(439-441)CCT>ACT p.P147T TSGA13_uc003vqj.2_Missense_Mutation_p.P147T NM_052933 NP_443165 Q96PP4 TSG13_HUMAN testis specific, 13 147 ovary(2) 2 Melanoma(18;0.0435) TTTTTCTGAGGCATGCGGGGC 0.468 NA 32 6 1.13719e-10 1.39995e-10 0.008361 1 0 PLXNA4 91584 broad.mit.edu 37 7 131829931 131829931 + Silent SNP A A T rs138367497 by1000genomes TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:131829931A>T uc003vra.3 - 29 5401 c.5172T>A c.(5170-5172)GCT>GCA p.A1724A PLXNA4_uc003vqz.3_Silent_p.A9A NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1724 Cytoplasmic (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 CATGTTTATCAGCCTGCTCAT 0.577 NA 44 37 0 0 0.00361 0 0 TMEM140 55281 broad.mit.edu 37 7 134849422 134849422 + Silent SNP C C A rs145562868 byFrequency TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:134849422C>A uc003vsi.2 + 2 510 c.229C>A c.(229-231)CGG>AGG p.R77R C7orf49_uc003vsh.2_Intron NM_018295 NP_060765 Q9NV12 TM140_HUMAN transmembrane protein 140 77 Extracellular (Potential). integral to membrane large_intestine(1) 1 GGGGGTGCCTCGGGTTGGCCT 0.612 NA 88 19 4.066e-59 7.53223e-59 0.00361 1 0 SLC13A4 26266 broad.mit.edu 37 7 135376069 135376069 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:135376069C>T uc003vta.2 - 13 2012 c.1323G>A c.(1321-1323)GAG>GAA p.E441E SLC13A4_uc003vtb.2_Silent_p.E442E|PL-5283_uc003vsz.3_Intron NM_012450 NP_036582 Q9UKG4 S13A4_HUMAN solute carrier family 13 (sodium/sulfate 441 integral to plasma membrane sodium:sulfate symporter activity 0 GCTCCTGGTTCTCTCCTGGAT 0.512 NA 27 50 0 0 0.002096 0 0 CHRM2 1129 broad.mit.edu 37 7 136700959 136700959 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:136700959G>A uc003vtf.1 + 4 1970 c.1347G>A c.(1345-1347)AAG>AAA p.K449K CHRM2_uc003vtg.1_Silent_p.K449K|CHRM2_uc003vtj.1_Silent_p.K449K|CHRM2_uc003vtk.1_Silent_p.K449K|CHRM2_uc003vtl.1_Silent_p.K449K|CHRM2_uc003vtm.1_Silent_p.K449K|CHRM2_uc003vti.1_Silent_p.K449K|CHRM2_uc003vto.1_Silent_p.K449K|CHRM2_uc003vtn.1_Silent_p.K449K|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 449 Cytoplasmic (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) CCTTCAAGAAGACCTTTAAAC 0.433 NA 71 15 0 0 0.00361 0 0 DENND2A 27147 broad.mit.edu 37 7 140246698 140246698 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:140246698G>T uc010lnj.2 - 11 2224 c.2079C>A c.(2077-2079)GCC>GCA p.A693A DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Silent_p.A693A|DENND2A_uc003vvw.2_Silent_p.A693A|DENND2A_uc003vvx.2_Silent_p.A693A NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 693 DENN. ovary(3)|breast(1) 4 Melanoma(164;0.00956) GCTGAACCAGGGCAGGAGAGA 0.527 NA 31 9 4.65686e-17 6.48407e-17 0.003755 1 0 MGAM 8972 broad.mit.edu 37 7 141730439 141730439 + Splice_Site SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:141730439A>T uc003vwy.2 + 12 1408 c.1354_splice c.e12-2 p.D452_splice NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TCCTATTTTTAGGATCCAGCC 0.453 NA 41 10 0 0 0.00874 0 0 MGAM 8972 broad.mit.edu 37 7 141736737 141736737 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:141736737C>T uc003vwy.2 + 18 2245 c.2191C>T c.(2191-2193)CAC>TAC p.H731Y NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 731 Lumenal (Potential).|Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CTTCCGTGCTCACAGCCGAGG 0.478 NA 123 24 0 0 0.00361 0 0 TRPV5 56302 broad.mit.edu 37 7 142625798 142625798 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:142625798C>A uc003wby.1 - 6 1014 c.750G>T c.(748-750)GAG>GAT p.E250D TRPV5_uc003wbz.2_Missense_Mutation_p.E250D NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 250 ANK 5.|Cytoplasmic (Potential). protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity ovary(3)|central_nervous_system(2)|skin(1) 6 Melanoma(164;0.059) CAGTGTTACCCTCCACTCCAG 0.587 NA 17 2 1.15088e-07 1.32252e-07 0.004007 1 0 C7orf34 135927 broad.mit.edu 37 7 142636792 142636792 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:142636792C>T uc003wca.2 + 1 190 c.149C>T c.(148-150)CCT>CTT p.P50L NM_178829 NP_849151 Q96L11 CG034_HUMAN hypothetical protein LOC135927 25 extracellular region 0 Melanoma(164;0.059) CAGGTGAAGCCTCTGAACGGG 0.597 NA 44 13 0 0 0.003214 0 0 OR9A2 135924 broad.mit.edu 37 7 142723979 142723979 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:142723979G>T uc003wcc.1 - 1 241 c.241C>A c.(241-243)CTT>ATT p.L81I NM_001001658 NP_001001658 Q8NGT5 OR9A2_HUMAN olfactory receptor, family 9, subfamily A, 81 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Melanoma(164;0.059) AATCCCCAAAGCATCATGGGG 0.478 NA 24 40 6.21321e-17 8.63244e-17 0.00278 1 0 TAS2R41 259287 broad.mit.edu 37 7 143175593 143175593 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:143175593C>T uc003wdc.1 + 1 628 c.628C>T c.(628-630)CAT>TAT p.H210Y uc003wda.2_Intron NM_176883 NP_795364 P59536 T2R41_HUMAN taste receptor, type 2, member 41 210 Cytoplasmic (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity pancreas(1)|skin(1) 2 Melanoma(164;0.15) TCTGAGGAGGCATACTCAGAG 0.463 NA 36 8 0 0 0.002836 0 0 OR6B1 135946 broad.mit.edu 37 7 143701656 143701656 + Nonsense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:143701656C>A uc003wdt.1 + 1 567 c.567C>A c.(565-567)TGC>TGA p.C189* NM_001005281 NP_001005281 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, 189 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.0783) ATCTCTCCTGCACAGACATGT 0.473 NA 21 56 8.10497e-08 9.39749e-08 0.010504 1 0 NOBOX 135935 broad.mit.edu 37 7 144096865 144096865 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:144096865G>T uc011kue.1 - 6 1139 c.1139C>A c.(1138-1140)GCC>GAC p.A380D NM_001080413 NP_001073882 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 380 cell differentiation|oogenesis nucleus sequence-specific DNA binding ovary(1) 1 Melanoma(164;0.14) TTGACTGCTGGCAGGGCCAGG 0.537 NA 13 2 4.3838e-07 4.96386e-07 0.001855 1 0 CNTNAP2 26047 broad.mit.edu 37 7 146829583 146829583 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:146829583C>A uc003weu.1 + 8 1846 c.1330C>A c.(1330-1332)CAA>AAA p.Q444K NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 444 Extracellular (Potential).|Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CAAGATGAGCCAAATCGATAT 0.408 NA HNSCC(39;0.1) 29 7 6.38683e-12 8.06275e-12 0.008361 1 0 CNTNAP2 26047 broad.mit.edu 37 7 147092857 147092857 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:147092857G>A uc003weu.1 + 10 2171 c.1655G>A c.(1654-1656)TGT>TAT p.C552Y NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 552 Extracellular (Potential).|Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) ATTGACATGTGTGCGATCATA 0.433 NA HNSCC(39;0.1) 54 8 0 0 0.00361 0 0 EZH2 2146 broad.mit.edu 37 7 148544290 148544290 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:148544290C>A uc003wfd.1 - 2 267 c.101G>T c.(100-102)CGA>CTA p.R34L EZH2_uc011kug.1_Missense_Mutation_p.R34L|EZH2_uc003wfb.1_Missense_Mutation_p.R34L|EZH2_uc003wfc.1_Missense_Mutation_p.R34L|EZH2_uc011kuh.1_Missense_Mutation_p.R34L|EZH2_uc011kui.1_Missense_Mutation_p.R34L|EZH2_uc011kuj.1_RNA NM_004456 NP_004447 Q15910 EZH2_HUMAN enhancer of zeste 2 isoform a 34 Interaction with DNMT1, DNMT3A and DNMT3B. negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1) 183 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) TTCATCAGCTCGTCTGAACCT 0.378 NA Mis DLBCL 77 83 3.41413e-29 5.63871e-29 0.00361 1 0 ZNF282 8427 broad.mit.edu 37 7 148895563 148895563 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:148895563G>A uc003wfm.2 + 2 409 c.304G>A c.(304-306)GTG>ATG p.V102M ZNF282_uc011kun.1_Missense_Mutation_p.V102M|ZNF282_uc003wfn.2_Missense_Mutation_p.V42M|ZNF282_uc003wfo.2_Missense_Mutation_p.V42M NM_003575 NP_003566 Q9UDV7 ZN282_HUMAN zinc finger protein 282 102 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) CTGGACTGTGGTGGCTGCCAT 0.617 NA 41 5 0 0 0.007835 0 0 SSPO 23145 broad.mit.edu 37 7 149480302 149480302 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:149480302G>A uc010lpk.2 + 16 2184 c.2184G>A c.(2182-2184)GTG>GTA p.V728V SSPO_uc010lpl.1_Silent_p.V63V NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 728 VWFD 2. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) AGTTCCAGGTGGCCGGCAAGG 0.622 NA 16 13 0 0 0.003163 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217137 150217137 + Silent SNP G G T rs114459899 byFrequency TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:150217137G>T uc003whk.2 + 2 205 c.75G>T c.(73-75)GCG>GCT p.A25A NM_153236 NP_694968 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 25 GTP binding pancreas(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GTGCAACAGCGAACACCATCC 0.512 NA 43 8 6.2361e-21 9.34208e-21 0.007835 1 0 GIMAP4 55303 broad.mit.edu 37 7 150266999 150266999 + Nonsense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:150266999C>T uc003whl.2 + 2 92 c.10C>T c.(10-12)CAA>TAA p.Q4* GIMAP4_uc011kuu.1_5'UTR|GIMAP4_uc011kuv.1_Nonsense_Mutation_p.Q4* NM_018326 NP_060796 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 4 GTP binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AATGGCAGCCCAATACGGCAG 0.512 NA 31 7 0 0 0.004878 0 0 NOS3 4846 broad.mit.edu 37 7 150704224 150704224 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:150704224C>A uc003wif.2 + 17 2268 c.1972C>A c.(1972-1974)CCC>ACC p.P658T NOS3_uc011kuy.1_Missense_Mutation_p.P452T NM_000603 NP_000594 P29474 NOS3_HUMAN nitric oxide synthase 3 isoform 1 658 Flavodoxin-like.|FMN (By similarity). anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding central_nervous_system(5)|large_intestine(2)|skin(1) 8 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) CCGGGCATACCCCCACTTCTG 0.687 NA 79 15 6.44082e-31 1.08036e-30 0.00361 1 0 DPP6 1804 broad.mit.edu 37 7 154143368 154143368 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:154143368G>T uc003wlk.2 + 2 442 c.313G>T c.(313-315)GTC>TTC p.V105F DPP6_uc003wli.2_Missense_Mutation_p.V41F|DPP6_uc003wlj.2_Missense_Mutation_p.V105F|DPP6_uc010lqh.1_Missense_Mutation_p.V43F|DPP6_uc003wlm.2_Missense_Mutation_p.V43F|DPP6_uc011kvq.1_Missense_Mutation_p.V43F NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 105 Helical; Signal-anchor for type II membrane protein; (Potential). cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) TGTCATTCTGGTCATCTGCTC 0.458 NSCLC(125;1384 1783 2490 7422 34254) NA 29 7 3.99451e-17 5.57789e-17 0.009535 1 0 CSMD1 64478 broad.mit.edu 37 8 2808674 2808674 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:2808674G>T uc011kwk.1 - 66 10556 c.10166C>A c.(10165-10167)ACC>AAC p.T3389N CSMD1_uc011kwj.1_Missense_Mutation_p.T2703N|CSMD1_uc010lrg.2_Missense_Mutation_p.T1280N NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 3389 Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TTCGCTGAAGGTGGCATTCAC 0.453 NA 10 4 4.68919e-08 5.45661e-08 0.008291 1 0 CSMD1 64478 broad.mit.edu 37 8 2832080 2832081 + Missense_Mutation DNP CC CC AA TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:2832080_2832081CC>AA uc011kwk.1 - 56 9025_9026 c.8635_8636GG>TT c.(8635-8637)GGC>TTC p.G2879F CSMD1_uc011kwj.1_Missense_Mutation_p.G2208F|CSMD1_uc010lrg.2_Missense_Mutation_p.G889F NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2879 Sushi 21.|Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CACGACGGCGCCATAGGTAAAC 0.559 NA 7 0 0 0 0.004672 0 0 AGPAT5 55326 broad.mit.edu 37 8 6614774 6614774 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:6614774G>T uc003wqo.2 + 8 1272 c.960G>T c.(958-960)AAG>AAT p.K320N AGPAT5_uc011kwm.1_3'UTR NM_018361 NP_060831 Q9NUQ2 PLCE_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 5 320 phospholipid biosynthetic process integral to membrane|mitochondrion 1-acylglycerol-3-phosphate O-acyltransferase activity 0 STAD - Stomach adenocarcinoma(24;0.0578) READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191) GTATCAAGAAGACTTTACCAT 0.393 NA 18 5 1.45105e-14 1.9182e-14 0.006122 1 0 TNKS 8658 broad.mit.edu 37 8 9634226 9634226 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:9634226G>C uc003wss.2 + 27 3969 c.3964G>C c.(3964-3966)GCC>CCC p.A1322P TNKS_uc011kww.1_Missense_Mutation_p.A1085P NM_003747 NP_003738 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related 1322 mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding lung(4)|ovary(2)|kidney(1) 7 COAD - Colon adenocarcinoma(149;0.0467) GACCGCAACAGCCGCAGAGCA 0.468 NA 16 7 0 0 0.00499 0 0 PINX1 54984 broad.mit.edu 37 8 10623340 10623340 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:10623340C>A uc003wth.2 - 7 591 c.558G>T c.(556-558)ATG>ATT p.M186I SOX7_uc011kwz.1_Intron|PINX1_uc003wti.2_Missense_Mutation_p.G161C NM_017884 NP_060354 Q96BK5 PINX1_HUMAN PIN2-interacting protein 1 186 RM -> PV (in Ref. 2; AAK31790). mitotic metaphase plate congression|negative regulation of cell proliferation chromosome, telomeric region|condensed chromosome kinetochore|mitochondrion|nuclear chromosome|nucleolus|spindle protein binding|telomerase inhibitor activity|telomeric RNA binding lung(1)|kidney(1)|skin(1) 3 Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201) TCAGTGCTGCCATCCGCTTGG 0.542 NA 76 36 1.38705e-31 2.33672e-31 0.00361 1 0 AMAC1L2 83650 broad.mit.edu 37 8 11189033 11189033 + Missense_Mutation SNP G G T rs145196437 byFrequency TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:11189033G>T uc003wtp.1 + 1 539 c.418G>T c.(418-420)GTA>TTA p.V140L NM_054028 NP_473369 Q96KT7 AMCL2_HUMAN acyl-malonyl condensing enzyme 140 DUF6 1. integral to membrane 0 STAD - Stomach adenocarcinoma(15;0.00676) COAD - Colon adenocarcinoma(149;0.0563) TTCTTCCACCGTATGCTCCGC 0.577 NA 57 30 2.23044e-30 3.72832e-30 0.00361 1 0 DLC1 10395 broad.mit.edu 37 8 13357256 13357256 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:13357256G>A uc003wwm.2 - 2 769 c.325C>T c.(325-327)CAT>TAT p.H109Y DLC1_uc003wwn.2_Missense_Mutation_p.H109Y|DLC1_uc011kxy.1_Missense_Mutation_p.H109Y NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 109 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 TCAGAAACATGCACTAGTGTT 0.418 NA 86 42 0 0 0.00361 0 0 SGCZ 137868 broad.mit.edu 37 8 13948043 13948043 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:13948043A>G uc003wwq.2 - 8 1508 c.848T>C c.(847-849)CTC>CCC p.L283P SGCZ_uc010lss.2_Missense_Mutation_p.L236P NM_139167 NP_631906 Q96LD1 SGCZ_HUMAN sarcoglycan zeta 270 Extracellular (Potential). cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma ovary(2)|central_nervous_system(1) 3 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) GCAGACGCAGAGTTCATACAC 0.478 NA 35 14 0 0 0.003271 0 0 PCM1 5108 broad.mit.edu 37 8 17815210 17815210 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:17815210G>C uc003wyi.3 + 13 2388 c.1966G>C c.(1966-1968)GAA>CAA p.E656Q PCM1_uc011kyh.1_Missense_Mutation_p.E656Q|PCM1_uc003wyj.3_Missense_Mutation_p.E657Q|PCM1_uc010lta.1_Missense_Mutation_p.E695Q NM_006197 NP_006188 Q15154 PCM1_HUMAN pericentriolar material 1 656 Potential. centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2) 36 Colorectal(111;0.0789) TGCTGAATTTGAACAGAAGAT 0.338 NA T RET|JAK2 papillary thyroid|CML|MPD 10 1 0 0 0.006214 0 0 HR 55806 broad.mit.edu 37 8 21986575 21986575 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:21986575G>T uc003xas.2 - 2 774 c.109C>A c.(109-111)CAC>AAC p.H37N HR_uc003xat.2_Missense_Mutation_p.H37N|HR_uc010lts.2_Missense_Mutation_p.H37N NM_005144 NP_005135 O43593 HAIR_HUMAN hairless protein isoform a 37 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1) 2 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) GGCCCATGGTGCAGTCCATCT 0.677 NA 26 12 4.22769e-11 5.27167e-11 0.00632 1 0 ADAM28 10863 broad.mit.edu 37 8 24199146 24199146 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:24199146G>T uc003xdy.2 + 16 1789 c.1706G>T c.(1705-1707)GGG>GTG p.G569V ADAM28_uc011laa.1_RNA|ADAM28_uc010lua.2_Missense_Mutation_p.G256V NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 isoform 1 569 Extracellular (Potential).|Cys-rich. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding skin(3)|lung(1)|central_nervous_system(1) 5 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) TGTCAAGGTGGGTCGGATAAT 0.413 NSCLC(193;488 2149 22258 34798 40734) NA 46 24 1.05386e-31 1.77695e-31 0.00361 1 0 ADAMDEC1 27299 broad.mit.edu 37 8 24251623 24251623 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:24251623C>T uc003xdz.2 + 4 546 c.326C>T c.(325-327)CCC>CTC p.P109L ADAMDEC1_uc010lub.2_Missense_Mutation_p.P30L|ADAMDEC1_uc011lab.1_Missense_Mutation_p.P30L NM_014479 NP_055294 O15204 ADEC1_HUMAN ADAM-like, decysin 1 isoform 1 109 integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding skin(2) 2 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) TTGTACTCACCCAGAGGAGAG 0.463 Ovarian(147;687 1849 3699 25981 31337) NA 7 4 0 0 0.004482 0 0 TRIM35 23087 broad.mit.edu 37 8 27145298 27145298 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:27145298C>A uc003xfl.1 - 6 1333 c.1251G>T c.(1249-1251)ACG>ACT p.T417T TRIM35_uc010lup.1_3'UTR NM_171982 NP_741983 Q9UPQ4 TRI35_HUMAN tripartite motif-containing 35 isoform 2 417 B30.2/SPRY. apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle cytoplasm|nucleus zinc ion binding 0 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141) CCAGGGGCGACGTGGCTGGGT 0.667 NA 7 5 0.00198382 0.00205832 0.001984 1 0 SCARA5 286133 broad.mit.edu 37 8 27737272 27737272 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:27737272C>A uc003xgj.2 - 8 1605 c.1165G>T c.(1165-1167)GCC>TCC p.A389S SCARA5_uc010luz.2_Missense_Mutation_p.A164S NM_173833 NP_776194 Q6ZMJ2 SCAR5_HUMAN scavenger receptor class A, member 5 389 Extracellular (Potential). cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization integral to plasma membrane ferritin receptor activity|scavenger receptor activity central_nervous_system(1)|skin(1) 2 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228) ATCATCGGGGCCTCCACGCCA 0.662 NA 13 6 4.3838e-07 4.96386e-07 0.001855 1 0 WRN 7486 broad.mit.edu 37 8 31030607 31030607 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:31030607C>G uc003xio.3 + 35 5076 c.4288C>G c.(4288-4290)CTT>GTT p.L1430V WRN_uc010lvk.2_Missense_Mutation_p.L897V NM_000553 NP_000544 Q14191 WRN_HUMAN Werner syndrome protein 1430 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 7 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) AAGGGGAGGTCTTTTTAGTTA 0.363 Ovarian(18;161 598 2706 14834 27543) NA Mis|N|F|S osteosarcoma|meningioma|others Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Werner_syndrome 10 3 0 0 0.001368 0 0 KCNU1 157855 broad.mit.edu 37 8 36664969 36664969 + Splice_Site SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:36664969G>T uc010lvw.2 + 6 743 c.656_splice c.e6+1 p.S219_splice KCNU1_uc003xjw.2_Splice_Site NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) TCAAGACCAGGTAAATAGCCC 0.393 NA 72 60 2.72615e-36 4.71169e-36 0.00361 1 0 ERLIN2 11160 broad.mit.edu 37 8 37609233 37609233 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:37609233G>A uc003xke.3 + 10 854 c.739G>A c.(739-741)GAT>AAT p.D247N NM_007175 NP_009106 O94905 ERLN2_HUMAN ER lipid raft associated 2 isoform 1 247 Interaction with ERLIN1.|Lumenal (Potential). ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane protein binding 0 Lung NSC(58;0.174) BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) AGAAATTGAAGGTAAGCAGAA 0.527 NA 18 23 0 0 0.006122 0 0 TACC1 6867 broad.mit.edu 37 8 38699955 38699955 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:38699955G>T uc010lwp.2 + 10 2490 c.2111G>T c.(2110-2112)GGG>GTG p.G704V TACC1_uc003xma.2_Missense_Mutation_p.G142V|TACC1_uc003xlz.2_Missense_Mutation_p.G509V|TACC1_uc003xmc.3_Missense_Mutation_p.G508V|TACC1_uc011lbz.1_Missense_Mutation_p.G691V|TACC1_uc003xmb.3_Missense_Mutation_p.G630V|TACC1_uc003xmf.3_Missense_Mutation_p.G294V|TACC1_uc011lca.1_Missense_Mutation_p.G687V|TACC1_uc011lcb.1_Missense_Mutation_p.G480V|TACC1_uc011lcd.1_RNA|TACC1_uc003xmh.3_Missense_Mutation_p.G521V|TACC1_uc010lwq.2_Missense_Mutation_p.G520V NM_006283 NP_006274 O75410 TACC1_HUMAN transforming, acidic coiled-coil containing 704 |Interaction with CH-TOG. cell cycle|cell division intermediate filament cytoskeleton|microtubule organizing center|nucleus protein binding ovary(1) 1 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065) LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235) GTTCTGGAAGGGTTCAAGAAG 0.453 NA 44 42 5.48756e-27 8.88113e-27 0.002852 1 0 TM2D2 83877 broad.mit.edu 37 8 38848959 38848959 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:38848959C>A uc003xmk.2 - 4 620 c.537G>T c.(535-537)AAG>AAT p.K179N TM2D2_uc003xml.2_Missense_Mutation_p.K136N|TM2D2_uc003xmm.2_Missense_Mutation_p.K136N|TM2D2_uc003xmn.2_Missense_Mutation_p.K136N NM_078473 NP_510882 Q9BX73 TM2D2_HUMAN TM2 domain containing 2 isoform a 179 integral to membrane 0 all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;1.5e-07) GCGTCAACAGCTTCCCTACTG 0.488 NA 14 36 4.14922e-12 5.25513e-12 0.004007 1 0 ADAM18 8749 broad.mit.edu 37 8 39486892 39486892 + Splice_Site SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:39486892G>T uc003xni.2 + 7 523 c.523_splice c.e7-1 p.I175_splice ADAM18_uc010lww.2_Splice_Site|ADAM18_uc010lwx.2_Splice_Site_p.I175_splice NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN a disintegrin and metalloprotease domain 18 cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1) 6 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) TTGTTTTCCAGATAAAAAATC 0.289 NA 19 23 1.01871e-10 1.2557e-10 0.008871 1 0 IDO1 3620 broad.mit.edu 37 8 39776358 39776358 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:39776358C>A uc003xnm.2 + 4 442 c.328C>A c.(328-330)CCT>ACT p.P110T IDO1_uc003xnn.2_RNA NM_002164 NP_002155 P14902 I23O1_HUMAN indoleamine 2,3-dioxygenase 1 110 female pregnancy|tryptophan catabolic process cytosol electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity central_nervous_system(2) 2 L-Tryptophan(DB00150) TATTGCTGTTCCTTACTGCCA 0.318 NA 25 62 6.36457e-07 7.16478e-07 0.003954 1 0 SFRP1 6422 broad.mit.edu 37 8 41166586 41166586 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:41166586G>A uc003xnt.2 - 1 395 c.93C>T c.(91-93)GCC>GCT p.A31A NM_003012 NP_003003 Q8N474 SFRP1_HUMAN secreted frizzled-related protein 1 precursor 31 brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1) 1 Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211) all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559) BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174) CGTACTCGCTGGCCGAGCCCA 0.731 NA 18 9 0 0 0.006122 0 0 AGPAT6 137964 broad.mit.edu 37 8 41469465 41469465 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:41469465C>G uc003xnz.2 + 6 1594 c.655C>G c.(655-657)CGG>GGG p.R219G NM_178819 NP_848934 Q86UL3 GPAT4_HUMAN lysophosphatidic acid acyltransferase zeta 219 acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction glycerol-3-phosphate O-acyltransferase activity 0 Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844) OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147) AATGTGTTACCGGATCTGCGT 0.458 NA 11 50 0 0 0.000978 0 0 SLC20A2 6575 broad.mit.edu 37 8 42323300 42323300 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:42323300T>C uc010lxl.2 - 3 1119 c.425A>G c.(424-426)AAG>AGG p.K142R SLC20A2_uc010lxm.2_Missense_Mutation_p.K142R|SLC20A2_uc003xpe.2_Missense_Mutation_p.K142R NM_006749 NP_006740 Q08357 S20A2_HUMAN solute carrier family 20, member 2 142 Extracellular (Potential). interspecies interaction between organisms integral to plasma membrane|membrane fraction inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity ovary(2) 2 all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211) all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869) ATTACCAATCTTGACAAGCTC 0.358 NA 46 25 0 0 0.00361 0 0 SGK196 84197 broad.mit.edu 37 8 42977541 42977541 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:42977541C>G uc003xpw.2 + 5 833 c.574C>G c.(574-576)CTG>GTG p.L192V NM_032237 NP_115613 Q9H5K3 SG196_HUMAN protein kinase-like protein SgK196 192 Protein kinase. integral to membrane ATP binding|protein kinase activity 0 CATTAATTACCTGCACCACAG 0.502 NA 16 48 0 0 0.00499 0 0 POTEA 340441 broad.mit.edu 37 8 43197396 43197396 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:43197396G>A uc003xpz.1 + 11 1328 c.1285G>A c.(1285-1287)GAG>AAG p.E429K POTEA_uc003xqa.1_Missense_Mutation_p.E383K NM_001005365 NP_001005365 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A isoform 2 429 ovary(1) 1 AATAGCGTCAGAGGATTATGA 0.358 NA 22 58 0 0 0.010504 0 0 MCM4 4173 broad.mit.edu 37 8 48889288 48889288 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:48889288G>T uc003xqk.1 + 17 2637 c.2542G>T c.(2542-2544)GCA>TCA p.A848S MCM4_uc003xql.1_Missense_Mutation_p.A848S|MCM4_uc011ldi.1_Missense_Mutation_p.A835S NM_182746 NP_877423 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 848 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding ovary(2)|skin(2) 4 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) GCGTGCCCTGGCAGATGATGA 0.488 NA 19 115 1.9806e-07 2.27328e-07 0.002299 1 0 SNAI2 6591 broad.mit.edu 37 8 49832655 49832656 + Missense_Mutation DNP CC CC AA TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:49832655_49832656CC>AA uc003xqp.2 - 2 588_589 c.424_425GG>TT c.(424-426)GGG>TTG p.G142L NM_003068 NP_003059 O43623 SNAI2_HUMAN snail 2 142 C2H2-type 1. canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502) TTTGGCCAGCCCAGAAAAAGTT 0.45 NA 32 71 0 0 0.004672 0 0 OPRK1 4986 broad.mit.edu 37 8 54147573 54147573 + Missense_Mutation SNP T T A rs148980561 byFrequency TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:54147573T>A uc003xrh.1 - 2 731 c.356A>T c.(355-357)TAC>TTC p.Y119F OPRK1_uc003xri.1_Missense_Mutation_p.Y119F|OPRK1_uc010lyc.1_Missense_Mutation_p.Y30F NM_000912 NP_000903 P41145 OPRK_HUMAN opioid receptor, kappa 1 119 Extracellular (Potential). behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding ovary(1)|skin(1) 2 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) ATTCATCAAGTAGACCGTACT 0.408 NA 45 36 0 0 0.003214 0 0 RP1 6101 broad.mit.edu 37 8 55539845 55539845 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:55539845G>T uc003xsd.1 + 4 3551 c.3403G>T c.(3403-3405)GTG>TTG p.V1135L RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1135 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TTGGCTCTTGGTGCTAAACCT 0.403 Colon(91;1014 1389 7634 14542 40420) NA 17 35 1.15088e-07 1.32252e-07 0.004007 1 0 RP1 6101 broad.mit.edu 37 8 55541689 55541689 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:55541689A>T uc003xsd.1 + 4 5395 c.5247A>T c.(5245-5247)AAA>AAT p.K1749N RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1749 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GGCTTCTGAAAGAAAATCATT 0.418 Colon(91;1014 1389 7634 14542 40420) NA 15 32 0 0 0.004007 0 0 TMEM68 137695 broad.mit.edu 37 8 56675305 56675305 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:56675305G>C uc003xsg.1 - 1 283 c.214C>G c.(214-216)CAC>GAC p.H72D TMEM68_uc003xsh.1_Missense_Mutation_p.H72D|TMEM68_uc003xsi.1_Missense_Mutation_p.H72D NM_152417 NP_689630 Q96MH6 TMM68_HUMAN transmembrane protein 68 72 integral to membrane acyltransferase activity skin(1) 1 Epithelial(17;0.000361)|all cancers(17;0.00326) TTATAAATGTGTAAGAAAATA 0.343 NA 38 31 0 0 0.004289 0 0 CYP7B1 9420 broad.mit.edu 37 8 65517310 65517310 + Nonsense_Mutation SNP G G A rs72554620 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:65517310G>A uc003xvj.2 - 5 1366 c.1162C>T c.(1162-1164)CGA>TGA p.R388* NM_004820 NP_004811 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, 388 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity ovary(3) 3 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) TCTCCCTTTCGCACACAGTAG 0.453 NA 53 40 0 0 0.00361 0 0 PREX2 80243 broad.mit.edu 37 8 69021769 69021769 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:69021769C>G uc003xxv.1 + 25 3084 c.3057C>G c.(3055-3057)GAC>GAG p.D1019E PREX2_uc011lez.1_Missense_Mutation_p.D954E NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 1019 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 AAGAAGAAGACTTAGAAACCC 0.463 NA 24 89 0 0 0.00333 0 0 SULF1 23213 broad.mit.edu 37 8 70536307 70536307 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:70536307G>T uc010lza.1 + 15 2442 c.1725G>T c.(1723-1725)AAG>AAT p.K575N SULF1_uc003xyd.2_Missense_Mutation_p.K575N|SULF1_uc003xye.2_Missense_Mutation_p.K575N|SULF1_uc003xyf.2_Missense_Mutation_p.K575N|SULF1_uc003xyg.2_Missense_Mutation_p.K575N|SULF1_uc003xyh.1_RNA NM_015170 NP_055985 Q8IWU6 SULF1_HUMAN sulfatase 1 precursor 575 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1) 7 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) ACATTGCTAAGCGTCATGATG 0.498 NA 9 34 2.17888e-05 2.37539e-05 0.006214 1 0 SULF1 23213 broad.mit.edu 37 8 70551059 70551059 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:70551059G>A uc010lza.1 + 21 3234 c.2517G>A c.(2515-2517)AAG>AAA p.K839K SULF1_uc003xyd.2_Silent_p.K839K|SULF1_uc003xye.2_Silent_p.K839K|SULF1_uc003xyf.2_Silent_p.K839K|SULF1_uc003xyg.2_Silent_p.K839K|SULF1_uc003xyh.1_RNA|SULF1_uc003xyi.1_5'UTR|SULF1_uc003xyj.1_5'UTR NM_015170 NP_055985 Q8IWU6 SULF1_HUMAN sulfatase 1 precursor 839 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1) 7 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) AAGGATATAAGCAGTGCAACC 0.388 NA 14 51 0 0 0.003163 0 0 ZFHX4 79776 broad.mit.edu 37 8 77768195 77768195 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:77768195G>T uc003yav.2 + 10 9290 c.8903G>T c.(8902-8904)GGG>GTG p.G2968V ZFHX4_uc003yau.1_Missense_Mutation_p.G3013V|ZFHX4_uc003yaw.1_Missense_Mutation_p.G2968V NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2968 C2H2-type 18. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) ACCCTCTGCGGGGTGAAGTAC 0.483 NA HNSCC(33;0.089) 17 15 1.45105e-14 1.9182e-14 0.006122 1 0 LRRCC1 85444 broad.mit.edu 37 8 86027440 86027441 + Missense_Mutation DNP TG TG CT TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:86027440_86027441TG>CT uc003ycw.2 + 5 804_805 c.650_651TG>CT c.(649-651)CTG>CCT p.L217P LRRCC1_uc010lzz.1_Intron|LRRCC1_uc010maa.1_Intron|LRRCC1_uc003ycx.2_Missense_Mutation_p.L124P|LRRCC1_uc003ycy.2_Missense_Mutation_p.L197P NM_033402 NP_208325 Q9C099 LRCC1_HUMAN sodium channel associated protein 2 isoform a 217 LRRCT. cell division|mitosis centriole|nucleus 0 TCATCACAGCTGCAGTGCCTAG 0.337 NA 13 28 0 0 0.004672 0 0 PSKH2 85481 broad.mit.edu 37 8 87076713 87076713 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:87076713G>T uc011lfy.1 - 2 333 c.333C>A c.(331-333)GTC>GTA p.V111V NM_033126 NP_149117 Q96QS6 KPSH2_HUMAN protein serine kinase H2 111 Protein kinase. ATP binding|protein serine/threonine kinase activity stomach(2)|lung(2)|ovary(1) 5 STAD - Stomach adenocarcinoma(118;0.129) CCCGCCGCAGGACGCTCAGCT 0.512 NA 25 25 1.75199e-13 2.26948e-13 0.007291 1 0 CNGB3 54714 broad.mit.edu 37 8 87680390 87680390 + Missense_Mutation SNP G G T rs142772954 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:87680390G>T uc003ydx.2 - 5 546 c.500C>A c.(499-501)CCC>CAC p.P167H CNGB3_uc010maj.2_Missense_Mutation_p.P29H NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 167 Cytoplasmic (Potential). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 TACAGCCGTGGGCTTTGCTTC 0.318 NA 17 30 1.99824e-07 2.29081e-07 0.00499 1 0 CNGB3 54714 broad.mit.edu 37 8 87738759 87738759 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:87738759C>A uc003ydx.2 - 3 384 c.338G>T c.(337-339)AGC>ATC p.S113I NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 113 Cytoplasmic (Potential). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 AAATGCTCACCTGTTTGGACC 0.458 NA 71 103 4.83677e-39 8.50393e-39 0.00361 1 0 DCAF4L2 138009 broad.mit.edu 37 8 88886059 88886059 + Silent SNP G G T rs142584363 byFrequency TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:88886059G>T uc003ydz.2 - 1 238 c.141C>A c.(139-141)CGC>CGA p.R47R NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 47 ovary(1) 1 CACGCAGCTCGCGAGCTATAC 0.498 NA 11 37 6.40141e-05 6.88944e-05 0.000978 1 0 DPY19L4 286148 broad.mit.edu 37 8 95746894 95746894 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:95746894G>T uc003ygx.2 + 3 288 c.164G>T c.(163-165)GGC>GTC p.G55V DPY19L4_uc003ygy.2_5'UTR NM_181787 NP_861452 Q7Z388 D19L4_HUMAN dpy-19-like 4 55 Helical; (Potential). integral to membrane p.G55D(1) ovary(2) 2 Breast(36;3.85e-06) ATTTTCATTGGCTGTCTTGCA 0.294 NA 9 16 2.17888e-05 2.37539e-05 0.006214 1 0 MATN2 4147 broad.mit.edu 37 8 98900453 98900453 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:98900453C>A uc003yic.2 + 2 356 c.125C>A c.(124-126)CCG>CAG p.P42Q MATN2_uc003yib.1_Missense_Mutation_p.P42Q|MATN2_uc010mbh.1_Missense_Mutation_p.P42Q|MATN2_uc003yid.2_Missense_Mutation_p.P42Q|MATN2_uc003yie.1_Missense_Mutation_p.P42Q NM_002380 NP_002371 O00339 MATN2_HUMAN matrilin 2 isoform a precursor 42 proteinaceous extracellular matrix calcium ion binding ovary(2) 2 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) CGGACCCACCCGCAGACGGCC 0.642 NA 4 6 0.00024832 0.000262719 0.009096 1 0 MATN2 4147 broad.mit.edu 37 8 98943632 98943632 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:98943632G>T uc003yic.2 + 3 825 c.594G>T c.(592-594)CAG>CAT p.Q198H MATN2_uc003yib.1_Missense_Mutation_p.Q198H|MATN2_uc010mbh.1_Missense_Mutation_p.Q198H|MATN2_uc003yid.2_Missense_Mutation_p.Q198H|MATN2_uc003yie.1_Missense_Mutation_p.Q198H|MATN2_uc010mbi.1_Missense_Mutation_p.Q72H NM_002380 NP_002371 O00339 MATN2_HUMAN matrilin 2 isoform a precursor 198 VWFA 1. proteinaceous extracellular matrix calcium ion binding ovary(2) 2 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) GTGTGGGCCAGGTAGACTTCA 0.552 NA 15 27 3.27435e-08 3.81942e-08 0.00245 1 0 NCALD 83988 broad.mit.edu 37 8 102701577 102701577 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:102701577C>G uc003yke.2 - 4 911 c.542G>C c.(541-543)CGC>CCC p.R181P NCALD_uc003ykf.2_Missense_Mutation_p.R181P|NCALD_uc003ykg.2_Missense_Mutation_p.R181P|NCALD_uc003ykh.2_Missense_Mutation_p.R181P|NCALD_uc003yki.2_Missense_Mutation_p.R181P|NCALD_uc003ykj.2_Missense_Mutation_p.R181P|NCALD_uc003ykk.2_Missense_Mutation_p.R181P|NCALD_uc003ykl.2_Missense_Mutation_p.R181P NM_032041 NP_114430 P61601 NCALD_HUMAN neurocalcin delta 181 synaptic transmission|vesicle-mediated transport clathrin coat of trans-Golgi network vesicle|cytosol actin binding|calcium ion binding|clathrin binding|tubulin binding 0 all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05) all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699) CTGCAGGAGGCGCACAATGGA 0.562 NA 8 33 0 0 0.00308 0 0 ATP6V1C1 528 broad.mit.edu 37 8 104063301 104063301 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:104063301A>G uc003ykz.3 + 5 555 c.310A>G c.(310-312)AGG>GGG p.R104G ATP6V1C1_uc010mbz.2_Missense_Mutation_p.R29G|ATP6V1C1_uc003yla.2_Missense_Mutation_p.R104G|ATP6V1C1_uc011lhl.1_Missense_Mutation_p.R29G NM_001695 NP_001686 P21283 VATC1_HUMAN ATPase, H+ transporting, lysosomal V1 subunit 104 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism 0 Lung NSC(17;0.000427)|all_lung(17;0.000533) OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133) TTATATAACAAGGTTCCAGTG 0.318 NA 28 22 0 0 0.009535 0 0 SLC25A32 81034 broad.mit.edu 37 8 104415469 104415469 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:104415469G>C uc003yll.2 - 4 778 c.475C>G c.(475-477)CCA>GCA p.P159A SLC25A32_uc011lhr.1_Missense_Mutation_p.P27A NM_030780 NP_110407 Q9H2D1 MFTC_HUMAN solute carrier family 25, member 32 159 Solcar 2. folic acid metabolic process|mitochondrial transport integral to membrane|mitochondrial inner membrane binding|folic acid transporter activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197) Folic Acid(DB00158) TGTCGGTGTGGGGAGTTAACA 0.338 NA 19 93 0 0 0.006122 0 0 RIMS2 9699 broad.mit.edu 37 8 105263929 105263929 + Nonsense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:105263929G>T uc003yls.2 + 28 4226 c.3985G>T c.(3985-3987)GGA>TGA p.G1329* RIMS2_uc003ylp.2_Nonsense_Mutation_p.G1311*|RIMS2_uc003ylq.2_Nonsense_Mutation_p.G1125*|RIMS2_uc003ylr.2_Nonsense_Mutation_p.G1150* NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1373 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TATGGTGATCGGATGGTTCAA 0.468 NA HNSCC(12;0.0054) 250 137 5.49557e-122 1.03996e-121 0.00361 1 0 TM7SF4 81501 broad.mit.edu 37 8 105361749 105361749 + Silent SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:105361749A>G uc003ylx.1 + 2 1018 c.969A>G c.(967-969)TCA>TCG p.S323S NM_030788 NP_110415 Q9H295 TM7S4_HUMAN dendritic cell-specific transmembrane protein 323 osteoclast differentiation cell surface|integral to membrane|plasma membrane pancreas(2)|large_intestine(1)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) TCATTTTCTCAGTGAGCAAGC 0.448 NA 70 383 0 0 0.00361 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110397854 110397854 + Silent SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:110397854T>A uc003yne.2 + 6 668 c.564T>A c.(562-564)ATT>ATA p.I188I NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 188 Extracellular (Potential).|IPT/TIG 2. immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATGTTAGGATTTTGAGGTAAT 0.294 NA HNSCC(38;0.096) 9 15 0 0 0.008291 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110464484 110464484 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:110464484T>A uc003yne.2 + 42 6586 c.6482T>A c.(6481-6483)ATC>AAC p.I2161N NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2161 IPT/TIG 14.|Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TGTGTCCACATCAGAGGTGTC 0.458 NA HNSCC(38;0.096) 14 29 0 0 0.004007 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110509245 110509245 + Silent SNP T T G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:110509245T>G uc003yne.2 + 64 10529 c.10425T>G c.(10423-10425)CTT>CTG p.L3475L NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 3475 PbH1 8.|Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GATGTTCTCTTATACAAGGAT 0.358 NA HNSCC(38;0.096) 36 27 0 0 0.003755 0 0 SLC30A8 169026 broad.mit.edu 37 8 118175669 118175669 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:118175669G>T uc003yoh.2 + 6 959 c.729G>T c.(727-729)GAG>GAT p.E243D SLC30A8_uc010mcz.2_Missense_Mutation_p.E194D|SLC30A8_uc011lia.1_Missense_Mutation_p.E194D|SLC30A8_uc003yog.2_Missense_Mutation_p.E194D NM_173851 NP_776250 Q8IWU4 ZNT8_HUMAN solute carrier family 30 member 8 243 Extracellular (Potential). insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity ovary(2)|skin(2) 4 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) TCTAGCCAGAGTATAAAATAG 0.388 Ovarian(162;1202 1922 6011 16223 52092) NA 22 82 3.7963e-18 5.41449e-18 0.00333 1 0 TAF2 6873 broad.mit.edu 37 8 120810006 120810006 + Silent SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:120810006A>G uc003you.2 - 7 1143 c.873T>C c.(871-873)TAT>TAC p.Y291Y NM_003184 NP_003175 Q6P1X5 TAF2_HUMAN TBP-associated factor 2 291 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding large_intestine(2)|ovary(2)|kidney(1)|skin(1) 6 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) GAATTTCTTCATAAAATTCAA 0.373 NA 5 15 0 0 0.001984 0 0 COL14A1 7373 broad.mit.edu 37 8 121267580 121267580 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:121267580A>G uc003yox.2 + 23 3119 c.2854A>G c.(2854-2856)ATA>GTA p.I952V COL14A1_uc003yoy.2_Missense_Mutation_p.I630V NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 952 Fibronectin type-III 8. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TAGGGTTGTTATAGAATCCCT 0.453 NA 33 53 0 0 0.009535 0 0 KLHL38 340359 broad.mit.edu 37 8 124657999 124657999 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:124657999G>C uc003yqs.1 - 3 1750 c.1726C>G c.(1726-1728)CGC>GGC p.R576G NM_001081675 NP_001075144 Q2WGJ6 KLH38_HUMAN kelch-like 38 576 0 CCAGACGTGCGGGGTATGCAC 0.582 NA 32 38 0 0 0.003755 0 0 FER1L6 654463 broad.mit.edu 37 8 125074115 125074115 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:125074115T>A uc003yqw.2 + 25 3376 c.3170T>A c.(3169-3171)CTG>CAG p.L1057Q uc003yqy.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 1057 Cytoplasmic (Potential).|C2 4. integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) AACGAGCTTCTGCACCCGCCA 0.557 NA 18 37 0 0 0.00499 0 0 POU5F1B 5462 broad.mit.edu 37 8 128428463 128428463 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:128428463C>A uc003ysf.2 + 1 607 c.352C>A c.(352-354)CCC>ACC p.P118T uc003ysc.1_Intron|uc003ysd.1_Intron|LOC727677_uc003yse.1_Intron|uc011liu.1_RNA NM_001159542 NP_001153014 Q06416 P5F1B_HUMAN POU class 5 homeobox 1B 118 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CTGCACCGTCCCCCCTGGTGC 0.597 NA 11 16 0.000673444 0.000705548 0.008291 1 0 ASAP1 50807 broad.mit.edu 37 8 131070229 131070229 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:131070229C>A uc003yta.1 - 28 3314 c.3286G>T c.(3286-3288)GTC>TTC p.V1096F ASAP1_uc003ysz.1_Missense_Mutation_p.V907F|ASAP1_uc011liw.1_Missense_Mutation_p.V1089F NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN development and differentiation enhancing factor 1096 SH3. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding ovary(4) 4 TCCCCTGTGACGATAATCACT 0.498 NA 53 54 8.99859e-20 1.31743e-19 0.00361 1 0 ADCY8 114 broad.mit.edu 37 8 132052171 132052171 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:132052171T>A uc003ytd.3 - 1 665 c.409A>T c.(409-411)AGC>TGC p.S137C ADCY8_uc010mds.2_Missense_Mutation_p.S137C NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 137 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TCCGAGTTGCTAGGGGCACAG 0.607 NA HNSCC(32;0.087) 6 2 0 0 0.001168 0 0 TG 7038 broad.mit.edu 37 8 133975270 133975270 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:133975270G>T uc003ytw.2 + 29 5540 c.5499G>T c.(5497-5499)ATG>ATT p.M1833I TG_uc010mdw.2_Missense_Mutation_p.M592I|TG_uc011ljb.1_Missense_Mutation_p.M202I|TG_uc011ljc.1_5'Flank|TG_uc010mdx.1_RNA NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 1833 Type IIIB. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CTGAGTCTATGGGATGTAGAA 0.478 NA 60 114 9.40535e-28 1.53631e-27 0.00361 1 0 TG 7038 broad.mit.edu 37 8 134108570 134108570 + Missense_Mutation SNP G G T rs35664324 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:134108570G>T uc003ytw.2 + 43 7566 c.7525G>T c.(7525-7527)GGG>TGG p.G2509W TG_uc010mdw.2_Missense_Mutation_p.G1268W|TG_uc011ljb.1_Missense_Mutation_p.G878W|TG_uc011ljc.1_Missense_Mutation_p.G642W|SLA_uc003ytz.2_Intron|SLA_uc011lje.1_Intron|SLA_uc011ljf.1_Intron|SLA_uc011ljg.1_Intron|SLA_uc010mea.2_Intron NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 2509 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TCTGCTCATTGGGAGTTCTCA 0.567 NA 65 87 2.34191e-24 3.67932e-24 0.00361 1 0 ST3GAL1 6482 broad.mit.edu 37 8 134472091 134472091 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:134472091C>T uc003yuk.2 - 10 1768 c.939G>A c.(937-939)ACG>ACA p.T313T ST3GAL1_uc003yum.2_Silent_p.T313T NM_173344 NP_775479 Q11201 SIA4A_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 313 Lumenal (Potential). protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity 0 all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.00721) CGTGCACCCCCGTCTTGCGAA 0.572 NA 49 76 0 0 0.00361 0 0 ZFAT 57623 broad.mit.edu 37 8 135614607 135614607 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:135614607C>A uc003yup.2 - 6 1530 c.1355G>T c.(1354-1356)AGG>ATG p.R452M ZFAT_uc003yun.2_Missense_Mutation_p.R440M|ZFAT_uc003yuo.2_Missense_Mutation_p.R440M|ZFAT_uc010meh.2_Missense_Mutation_p.R440M|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.R440M|ZFAT_uc010mej.2_Missense_Mutation_p.R390M|ZFAT_uc003yur.2_Missense_Mutation_p.R440M NM_020863 NP_065914 Q9P243 ZFAT_HUMAN zinc finger protein 406 isoform ZFAT-1 452 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) GGGGTGCTTCCTGACATGCAG 0.612 NA 17 27 3.52763e-06 3.90747e-06 0.00499 1 0 FAM135B 51059 broad.mit.edu 37 8 139165094 139165094 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:139165094C>A uc003yuy.2 - 13 1795 c.1624G>T c.(1624-1626)GGT>TGT p.G542C FAM135B_uc003yux.2_Missense_Mutation_p.G443C|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.G104C|FAM135B_uc003yvb.2_Missense_Mutation_p.G104C NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 542 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TCCTCTGGACCTGGACTCCTT 0.502 NA HNSCC(54;0.14) 30 33 3.1745e-13 4.09571e-13 0.008361 1 0 TRAPPC9 83696 broad.mit.edu 37 8 141381254 141381254 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:141381254C>T uc003yvj.2 - 8 1294 c.1160G>A c.(1159-1161)CGC>CAC p.R387H TRAPPC9_uc003yvh.2_Missense_Mutation_p.R485H|TRAPPC9_uc003yvi.1_Missense_Mutation_p.R378H NM_001160372 NP_001153844 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 isoform 387 cell differentiation endoplasmic reticulum|Golgi apparatus skin(2) 2 GATGCTGTAGCGCTGAATTTT 0.468 NA 9 14 0 0 0.008291 0 0 EIF2C2 27161 broad.mit.edu 37 8 141554341 141554341 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:141554341C>T uc003yvn.2 - 14 1850 c.1810G>A c.(1810-1812)GGG>AGG p.G604R EIF2C2_uc010men.2_Missense_Mutation_p.G527R|EIF2C2_uc010meo.2_Missense_Mutation_p.G604R NM_012154 NP_036286 Q9UKV8 AGO2_HUMAN argonaute 2 isoform 1 604 Piwi. mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity 0 all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.158) TTCCCATCCCCGGCGGGGGGG 0.642 NA 8 132 0 0 0.006214 0 0 BAI1 575 broad.mit.edu 37 8 143558878 143558878 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:143558878A>T uc003ywm.2 + 5 1538 c.1355A>T c.(1354-1356)CAA>CTA p.Q452L NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 452 Extracellular (Potential).|TSP type-1 3. axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CCTGAGAAGCAAACCAAGTTC 0.652 NA 25 31 0 0 0.003954 0 0 TOP1MT 116447 broad.mit.edu 37 8 144403382 144403382 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:144403382C>T uc003yxz.2 - 8 1154 c.1135G>A c.(1135-1137)GTG>ATG p.V379M TOP1MT_uc011lkd.1_Missense_Mutation_p.V281M|TOP1MT_uc011lke.1_Missense_Mutation_p.V281M|TOP1MT_uc010mfb.2_Missense_Mutation_p.V281M|TOP1MT_uc011lkf.1_Missense_Mutation_p.V174M|TOP1MT_uc010mfd.1_Missense_Mutation_p.V174M NM_052963 NP_443195 Q969P6 TOP1M_HUMAN mitochondrial topoisomerase I precursor 379 DNA topological change chromosome|mitochondrial nucleoid ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity ovary(1) 1 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) GGCTTCTCCACCGGCACTCTG 0.637 NA 7 3 0 0 0.001984 0 0 ZC3H3 23144 broad.mit.edu 37 8 144620697 144620698 + Missense_Mutation DNP CC CC AA TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:144620697_144620698CC>AA uc003yyd.2 - 2 868_869 c.839_840GG>TT c.(838-840)GGG>GTT p.G280V NM_015117 NP_055932 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 280 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding skin(1) 1 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) TGGCGGGGCCCCCCACTGAGCC 0.614 NA 46 64 0 0 0.004672 0 0 WASH5P 375690 broad.mit.edu 37 9 17044 17044 + Silent SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:17044G>C uc010mgm.1 - 7 947 c.804C>G c.(802-804)CCC>CCG p.P268P WASH5P_uc003zfr.2_RNA|WASH5P_uc011llq.1_RNA|WASH5P_uc003zfu.1_Silent_p.P281P NM_182905 NP_878908 WAS protein family homolog 1 0 GGGCAATGCCGGGGCCCAGGT 0.627 NA 4 29 0 0 0.009096 0 0 DOCK8 81704 broad.mit.edu 37 9 404959 404959 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:404959G>A uc003zgf.2 + 27 3388 c.3276G>A c.(3274-3276)ATG>ATA p.M1092I DOCK8_uc010mgu.2_Missense_Mutation_p.M394I|DOCK8_uc010mgv.2_Missense_Mutation_p.M992I|DOCK8_uc010mgw.1_Missense_Mutation_p.M394I|DOCK8_uc003zgk.2_Missense_Mutation_p.M550I NM_203447 NP_982272 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1092 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3) 6 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) TCATTTCCATGAGGCTAGAGT 0.418 NA 35 8 0 0 0.007835 0 0 SMARCA2 6595 broad.mit.edu 37 9 2088558 2088558 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:2088558G>T uc003zhc.2 + 19 2927 c.2828G>T c.(2827-2829)AGA>ATA p.R943I SMARCA2_uc003zhd.2_Missense_Mutation_p.R943I|SMARCA2_uc010mha.2_Missense_Mutation_p.R876I NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated 943 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1) 3 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) AAGGTGTTAAGACCATTTTTA 0.348 NA 90 29 9.63447e-60 1.78649e-59 0.00361 1 0 KDM4C 23081 broad.mit.edu 37 9 7011843 7011843 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:7011843C>T uc003zkh.2 + 13 2512 c.1932C>T c.(1930-1932)CAC>CAT p.H644H KDM4C_uc010mhu.2_Silent_p.H666H|KDM4C_uc011lmi.1_Silent_p.H644H|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Silent_p.H644H|KDM4C_uc011lmk.1_Silent_p.H389H|KDM4C_uc011lml.1_Silent_p.H331H NM_015061 NP_055876 Q9H3R0 KDM4C_HUMAN jumonji domain containing 2C isoform 1 644 positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 TGAAGCCACACTGTGCCATCT 0.517 NA 36 6 0 0 0.005524 0 0 PTPRD 5789 broad.mit.edu 37 9 8485268 8485268 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:8485268A>T uc003zkk.2 - 28 3823 c.3112T>A c.(3112-3114)TGG>AGG p.W1038R PTPRD_uc003zkp.2_Missense_Mutation_p.W627R|PTPRD_uc003zkq.2_Missense_Mutation_p.W627R|PTPRD_uc003zkr.2_Missense_Mutation_p.W622R|PTPRD_uc003zks.2_Missense_Mutation_p.W617R|PTPRD_uc003zkl.2_Missense_Mutation_p.W1029R|PTPRD_uc003zkm.2_Missense_Mutation_p.W1025R|PTPRD_uc003zkn.2_Missense_Mutation_p.W627R|PTPRD_uc003zko.2_Missense_Mutation_p.W624R NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1038 Fibronectin type-III 8.|Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GGAATCTCCCAAGACAGCAAC 0.343 NA TSP Lung(15;0.13) 19 2 0 0 0.010504 0 0 CNTLN 54875 broad.mit.edu 37 9 17464561 17464561 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:17464561G>C uc003zmz.2 + 21 3494 c.3468G>C c.(3466-3468)CAG>CAC p.Q1156H CNTLN_uc003zmy.2_Missense_Mutation_p.Q1157H|CNTLN_uc010mio.2_Missense_Mutation_p.Q836H NM_017738 NP_060208 Q9NXG0 CNTLN_HUMAN centlein isoform 1 1157 Potential. centriole|membrane two-component sensor activity pancreas(1) 1 GBM - Glioblastoma multiforme(50;6.14e-10) AATTTCGACAGAAAGTAAATT 0.289 NA 65 15 0 0 0.00361 0 0 IFNA5 3442 broad.mit.edu 37 9 21304946 21304946 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:21304946G>A uc011lnh.1 - 1 310 c.310C>T c.(310-312)CTT>TTT p.L104F NM_002169 NP_002160 P01569 IFNA5_HUMAN interferon, alpha 5 precursor 104 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding ovary(1) 1 Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) TTGTCTAGAAGTGTCTCATCC 0.473 NA 44 57 0 0 0.009718 0 0 PLAA 9373 broad.mit.edu 37 9 26920328 26920328 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:26920328T>C uc003zqd.2 - 8 1519 c.1094A>G c.(1093-1095)TAT>TGT p.Y365C PLAA_uc003zqe.2_Missense_Mutation_p.Y365C NM_001031689 NP_001026859 Q9Y263 PLAP_HUMAN phospholipase A2-activating protein 365 phospholipid metabolic process|signal transduction phospholipase A2 activator activity 0 all_neural(3;3.53e-10)|Glioma(3;2.71e-09) Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011) ACTCCACTGATAGGCTTCGAC 0.383 Melanoma(175;2670 2735 14091 35526) NA 14 23 0 0 0.001855 0 0 TAF1L 138474 broad.mit.edu 37 9 32633952 32633952 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:32633952G>T uc003zrg.1 - 1 1716 c.1626C>A c.(1624-1626)AAC>AAA p.N542K uc003zrh.1_RNA NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 542 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TGGAGGGGGAGTTAGAGGTGG 0.488 NA 62 120 8.72158e-25 1.38032e-24 0.00361 1 0 SMU1 55234 broad.mit.edu 37 9 33057642 33057642 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:33057642C>A uc003zsf.1 - 7 929 c.821G>T c.(820-822)AGA>ATA p.R274I SMU1_uc010mjo.1_Missense_Mutation_p.R274I|SMU1_uc010mjp.1_Missense_Mutation_p.R274I|SMU1_uc011lnu.1_Missense_Mutation_p.R113I NM_018225 NP_060695 Q2TAY7 SMU1_HUMAN smu-1 suppressor of mec-8 and unc-52 homolog 274 WD 2. cytoplasm|nucleus ovary(1) 1 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.11) TTCTGTATCTCTGCTGAAACA 0.398 NA 71 50 7.07328e-35 1.22032e-34 0.00361 1 0 NFX1 4799 broad.mit.edu 37 9 33318727 33318727 + Splice_Site SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:33318727A>G uc003zsq.2 + 8 1650 c.1589_splice c.e8-2 p.V530_splice SUGT1P1_uc010mjq.1_Intron|NFX1_uc011lnw.1_Splice_Site_p.V530_splice|NFX1_uc003zso.2_Splice_Site_p.V530_splice|NFX1_uc003zsp.1_Splice_Site_p.V530_splice|NFX1_uc010mjr.1_Splice_Site_p.V530_splice|NFX1_uc003zsr.2_Splice_Site_p.V530_splice NM_002504 NP_002495 Q12986 NFX1_HUMAN nuclear transcription factor, X-box binding 1 inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(29;0.00506) GBM - Glioblastoma multiforme(74;0.224) TTTCTCTTCAAGTATGCTATT 0.388 NA 55 60 0 0 0.00361 0 0 ALDH1B1 219 broad.mit.edu 37 9 38396171 38396171 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:38396171C>T uc004aay.2 + 2 538 c.426C>T c.(424-426)GTC>GTT p.V142V NM_000692 NP_000683 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1B1 precursor 142 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity skin(1) 1 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) TGGATGAGGTCATCAAGGTGT 0.557 NA 48 105 0 0 0.00361 0 0 FAM75A6 389730 broad.mit.edu 37 9 43625384 43625384 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:43625384G>T uc011lrb.1 - 4 3332 c.3303C>A c.(3301-3303)CCC>CCA p.P1101P NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 1101 integral to membrane 0 TGTGAATAGGGGGAAACATTG 0.478 NA 47 365 1.58458e-29 2.62828e-29 0.00361 1 0 FAM75A6 389730 broad.mit.edu 37 9 43627789 43627789 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:43627789C>T uc011lrb.1 - 4 927 c.898G>A c.(898-900)GAT>AAT p.D300N NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 300 integral to membrane 0 GAAAGAGGATCTTGCTGGACT 0.552 NA 151 647 0 0 0.00361 0 0 FAM75A6 389730 broad.mit.edu 37 9 43627791 43627791 + Missense_Mutation SNP T T G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:43627791T>G uc011lrb.1 - 4 925 c.896A>C c.(895-897)CAA>CCA p.Q299P NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 299 integral to membrane 0 AAGAGGATCTTGCTGGACTGA 0.557 NA 146 635 0 0 0.00361 0 0 ANKRD20A3 441425 broad.mit.edu 37 9 67968449 67968449 + Nonsense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:67968449A>T uc004aeu.2 + 15 2120 c.2008A>T c.(2008-2010)AAA>TAA p.K670* ANKRD20A3_uc010mnn.2_Nonsense_Mutation_p.K669* NM_001012419 NP_001012419 Q5VUR7 A20A3_HUMAN ankyrin repeat domain 20 family, member A3 670 Potential. 0 AACACAAATTAAATTCAATGC 0.338 NA 52 45 0 0 0.00361 0 0 PGM5 5239 broad.mit.edu 37 9 71114172 71114172 + Silent SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:71114172A>T uc004agr.2 + 10 1738 c.1509A>T c.(1507-1509)TCA>TCT p.S503S NM_021965 NP_068800 Q15124 PGM5_HUMAN phosphoglucomutase 5 503 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity ovary(1)|pancreas(1) 2 CGGATGCATCACGGCTCATCT 0.527 NA 80 23 0 0 0.00361 0 0 TMEM2 23670 broad.mit.edu 37 9 74337423 74337423 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:74337423T>A uc011lsa.1 - 12 2727 c.2187A>T c.(2185-2187)TTA>TTT p.L729F TMEM2_uc010mos.2_Missense_Mutation_p.L666F|TMEM2_uc011lsb.1_RNA NM_013390 NP_037522 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 isoform a 729 PbH1 2. integral to membrane ovary(2) 2 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) TGTCAATAAATAAGCCAGCCT 0.353 NA 23 8 0 0 0.004656 0 0 VPS13A 23230 broad.mit.edu 37 9 79955112 79955112 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:79955112G>T uc004akr.2 + 49 7053 c.6793G>T c.(6793-6795)GAT>TAT p.D2265Y VPS13A_uc004akp.3_Missense_Mutation_p.D2265Y|VPS13A_uc004akq.3_Missense_Mutation_p.D2265Y|VPS13A_uc004aks.2_Missense_Mutation_p.D2226Y NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 2265 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 TATGGTAACTGATAGTGAGTT 0.318 NA 40 4 1.62957e-23 2.5314e-23 0.00874 1 0 SLC28A3 64078 broad.mit.edu 37 9 86903039 86903039 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:86903039C>A uc010mpz.2 - 12 1329 c.1204G>T c.(1204-1206)GCT>TCT p.A402S SLC28A3_uc011lsy.1_Missense_Mutation_p.A333S|SLC28A3_uc004anu.1_Missense_Mutation_p.A402S NM_022127 NP_071410 Q9HAS3 S28A3_HUMAN concentrative Na+-nucleoside cotransporter 402 Helical; (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to membrane|plasma membrane nucleoside binding upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1) 4 TTAGCAGCAGCCAATGACGCA 0.428 Ovarian(106;425 1539 34835 42413 43572) NA 96 21 7.34945e-47 1.32716e-46 0.00361 1 0 NTRK2 4915 broad.mit.edu 37 9 87636305 87636305 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:87636305C>A uc004aoa.1 + 20 3360 c.2422C>A c.(2422-2424)CAG>AAG p.Q808K NTRK2_uc004anz.1_Missense_Mutation_p.Q824K NM_001018064 NP_001018074 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 808 Cytoplasmic (Potential). activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1) 16 TACCCTCCTTCAGAACTTGGC 0.592 NA TSP Lung(25;0.17) 63 3 2.37532e-16 3.27199e-16 0.00361 1 0 DAPK1 1612 broad.mit.edu 37 9 90322028 90322028 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:90322028G>T uc004apc.2 + 26 4180 c.4042G>T c.(4042-4044)GGG>TGG p.G1348W DAPK1_uc004apd.2_Missense_Mutation_p.G1348W|DAPK1_uc011ltg.1_Missense_Mutation_p.G1282W|DAPK1_uc011lth.1_Missense_Mutation_p.G1085W|DAPK1_uc004apg.2_Missense_Mutation_p.G325W NM_004938 NP_004929 P53355 DAPK1_HUMAN death-associated protein kinase 1 1348 Death. apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity ovary(1)|breast(1) 2 CACCAGTAACGGGGCTCCCAA 0.632 NA Chronic_Lymphocytic_Leukemia_Familial_Clustering_of 56 18 9.04393e-38 1.57434e-37 0.00361 1 0 PTCH1 5727 broad.mit.edu 37 9 98220396 98220396 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:98220396C>A uc004avk.3 - 18 3255 c.3067G>T c.(3067-3069)GGC>TGC p.G1023C PTCH1_uc010mro.2_Missense_Mutation_p.G872C|PTCH1_uc010mrp.2_Missense_Mutation_p.G872C|PTCH1_uc010mrq.2_Missense_Mutation_p.G872C|PTCH1_uc004avl.3_Missense_Mutation_p.G872C|PTCH1_uc010mrr.2_Missense_Mutation_p.G957C|PTCH1_uc004avm.3_Missense_Mutation_p.G1022C NM_000264 NP_000255 Q13635 PTC1_HUMAN patched isoform L 1023 Extracellular (Potential). embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity p.I963fs*2(1) skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1) 379 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) TGGCGGAGGCCGATGTACTGC 0.577 NA Basal_Cell_Nevus_syndrome 46 12 5.48756e-27 8.88113e-27 0.002852 1 0 C9orf102 375748 broad.mit.edu 37 9 98643552 98643552 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:98643552A>T uc004avt.3 + 2 869 c.481A>T c.(481-483)ATG>TTG p.M161L C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_5'UTR|C9orf102_uc010mry.1_5'UTR|C9orf102_uc010mrz.2_5'UTR NM_001010895 NP_001010895 Q5T890 RAD26_HUMAN RAD26L hypothetical protein 161 ATP (By similarity).|Helicase ATP-binding. DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding 0 Acute lymphoblastic leukemia(62;0.0559) GGGTGATGACATGGGACTTGG 0.363 NA 27 6 0 0 0.002096 0 0 GABBR2 9568 broad.mit.edu 37 9 101147957 101147957 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:101147957A>T uc004ays.2 - 11 1783 c.1627T>A c.(1627-1629)TTT>ATT p.F543I NM_005458 NP_005449 O75899 GABR2_HUMAN G protein-coupled receptor 51 precursor 543 Helical; Name=2; (Potential). negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(2)|skin(2) 4 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) TCAGAGACAAAGGATCCATCA 0.428 NA 30 7 0 0 0.002836 0 0 CYLC2 1539 broad.mit.edu 37 9 105767812 105767812 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:105767812C>G uc004bbs.2 + 5 969 c.899C>G c.(898-900)GCC>GGC p.A300G NM_001340 NP_001331 Q14093 CYLC2_HUMAN cylicin 2 300 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton skin(1) 1 all_hematologic(171;0.125) acgaaagatgccaagaaagtt 0.144 NA 12 3 0 0 0.000978 0 0 SMC2 10592 broad.mit.edu 37 9 106889718 106889718 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:106889718A>T uc004bbv.2 + 20 3035 c.2747A>T c.(2746-2748)AAC>ATC p.N916I SMC2_uc004bbw.2_Missense_Mutation_p.N916I|SMC2_uc011lvl.1_Missense_Mutation_p.N916I|SMC2_uc004bbx.2_Missense_Mutation_p.N916I|SMC2_uc004bby.2_RNA NM_001042551 NP_001036016 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 916 Potential. N -> H (in Ref. 1; AAC72360). cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1) 9 TTAGACCACAACATCAGCAAA 0.363 NA 28 5 0 0 0.009535 0 0 OR13C2 392376 broad.mit.edu 37 9 107367234 107367234 + Silent SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:107367234G>A uc011lvq.1 - 1 675 c.675C>T c.(673-675)ATC>ATT p.I225I NM_001004481 NP_001004481 Q8NGS9 O13C2_HUMAN olfactory receptor, family 13, subfamily C, 225 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TAATTTTGAAGATGCTCACAA 0.408 NA 59 7 0 0 0.00361 0 0 OR13C9 286362 broad.mit.edu 37 9 107380040 107380040 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:107380040C>A uc011lvr.1 - 1 446 c.446G>T c.(445-447)TGG>TTG p.W149L NM_001001956 NP_001001956 Q8NGT0 O13C9_HUMAN olfactory receptor, family 13, subfamily C, 149 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CCCTGCAAACCAGGACCCAAC 0.443 NA 56 14 4.78724e-31 8.05089e-31 0.00361 1 0 OR13D1 286365 broad.mit.edu 37 9 107457184 107457184 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:107457184C>G uc011lvs.1 + 1 482 c.482C>G c.(481-483)CCA>CGA p.P161R NM_001004484 NP_001004484 Q8NGV5 O13D1_HUMAN olfactory receptor, family 13, subfamily D, 161 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 ATCTGCAACCCACTGAGGTAC 0.537 NA 73 23 0 0 0.00361 0 0 ASTN2 23245 broad.mit.edu 37 9 119625893 119625893 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:119625893G>T uc004bjs.1 - 11 2110 c.2009C>A c.(2008-2010)TCT>TAT p.S670Y ASTN2_uc004bjr.1_Missense_Mutation_p.S666Y|ASTN2_uc004bjt.1_Missense_Mutation_p.S619Y NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 670 Extracellular (Potential).|EGF-like 2. integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 CTGCCGGTCAGACACACACTT 0.577 NA 20 9 6.44725e-10 7.81755e-10 0.002299 1 0 TLR4 7099 broad.mit.edu 37 9 120475273 120475273 + Silent SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:120475273A>G uc004bjz.2 + 3 1158 c.867A>G c.(865-867)CGA>CGG p.R289R TLR4_uc004bka.2_Silent_p.R249R|TLR4_uc004bkb.2_Silent_p.R89R NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 289 Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 AAGAATTCCGATTAGCATACT 0.363 NA 26 9 0 0 0.005443 0 0 DBC1 1620 broad.mit.edu 37 9 121930490 121930490 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:121930490C>A uc004bkc.2 - 8 1614 c.1158G>T c.(1156-1158)CAG>CAT p.Q386H NM_014618 NP_055433 O60477 DBC1_HUMAN deleted in bladder cancer 1 precursor 386 cell cycle arrest|cell death cytoplasm protein binding skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1) 8 TTGCAAGCCACTGCTGAATTG 0.512 NA 11 2 0.00185496 0.00192979 0.001855 1 0 OR1L8 138881 broad.mit.edu 37 9 125330211 125330211 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:125330211G>T uc004bmp.1 - 1 546 c.546C>A c.(544-546)CTC>CTA p.L182L NM_001004454 NP_001004454 Q8NGR8 OR1L8_HUMAN olfactory receptor, family 1, subfamily L, 182 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 GCACAGGGCTGAGGTCACAGA 0.463 NA 34 8 1.04594e-18 1.50621e-18 0.00623 1 0 CRB2 286204 broad.mit.edu 37 9 126129486 126129486 + Nonsense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:126129486G>T uc004bnx.1 + 5 882 c.790G>T c.(790-792)GAG>TAG p.E264* CRB2_uc004bnw.1_Nonsense_Mutation_p.E264* NM_173689 NP_775960 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 precursor 264 Extracellular (Potential).|EGF-like 6. extracellular region|integral to membrane|plasma membrane calcium ion binding ovary(1) 1 GGACGAGGACGAGTGTGCATC 0.682 NA 66 11 3.13743e-37 5.44196e-37 0.00361 1 0 NUP214 8021 broad.mit.edu 37 9 134103702 134103702 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:134103702A>T uc004cag.2 + 33 6169 c.6058A>T c.(6058-6060)AGC>TGC p.S2020C NUP214_uc004cah.2_Missense_Mutation_p.S2010C|NUP214_uc004cai.2_Missense_Mutation_p.S1450C|NUP214_uc010mzg.2_RNA|NUP214_uc011mcg.1_Missense_Mutation_p.S846C NM_005085 NP_005076 P35658 NU214_HUMAN nucleoporin 214kDa 2020 Pro/Ser/Thr-rich.|11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1) 16 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) TGCAGCTGCCAGCGCAGGAGG 0.607 Pancreas(4;24 48 25510 30394 32571) NA T DEK|SET|ABL1 AML|T-ALL 41 5 0 0 0.003214 0 0 NTNG2 84628 broad.mit.edu 37 9 135073628 135073628 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:135073628C>A uc004cbh.2 + 3 1265 c.489C>A c.(487-489)CCC>CCA p.P163P NM_032536 NP_115925 Q96CW9 NTNG2_HUMAN netrin G2 precursor 163 Laminin N-terminal. axonogenesis anchored to plasma membrane 0 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) CCTGGCAGCCCTACCAGTTCT 0.677 NA 30 9 2.47511e-08 2.90288e-08 0.008361 1 0 SARDH 1757 broad.mit.edu 37 9 136529095 136529095 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:136529095C>G uc004cep.3 - 21 2807 c.2673G>C c.(2671-2673)GAG>GAC p.E891D SARDH_uc004ceo.2_Missense_Mutation_p.E891D|SARDH_uc011mdn.1_Missense_Mutation_p.E891D|SARDH_uc011mdo.1_Missense_Mutation_p.E723D|SARDH_uc004cen.2_Missense_Mutation_p.E341D NM_001134707 NP_001128179 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase precursor 891 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity 0 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) CCCCCATTCTCTCCAGGGCAT 0.572 NA 33 17 0 0 0.002445 0 0 COL5A1 1289 broad.mit.edu 37 9 137630602 137630602 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:137630602G>T uc004cfe.2 + 11 1824 c.1442G>T c.(1441-1443)GGA>GTA p.G481V NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 481 Interrupted collagenous region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GGTCTTCCCGGACCTCCAGGA 0.562 NA 73 14 6.44082e-31 1.08036e-30 0.00361 1 0 COL5A1 1289 broad.mit.edu 37 9 137727020 137727020 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:137727020C>T uc004cfe.2 + 65 5722 c.5340C>T c.(5338-5340)CCC>CCT p.P1780P uc004cff.2_Intron NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 1780 Fibrillar collagen NC1. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) ACAACAACCCCTACATCCGCG 0.672 NA 19 7 0 0 0.007413 0 0 KIAA0649 9858 broad.mit.edu 37 9 138377399 138377399 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:138377399A>T uc004cfr.1 + 4 1592 c.1043A>T c.(1042-1044)AAG>ATG p.K348M NM_014811 NP_055626 Q5T8A7 K0649_HUMAN 1A6/DRIM (down-regulated in metastasis) 348 nucleolus protein binding ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06) AGGAGGGGAAAGCGAGTCATG 0.617 NA 58 15 0 0 0.00361 0 0 LHX3 8022 broad.mit.edu 37 9 139090759 139090759 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:139090759C>A uc004cha.2 - 4 698 c.601G>T c.(601-603)GTG>TTG p.V201L LHX3_uc004cgz.2_Missense_Mutation_p.V206L NM_178138 NP_835258 Q9UBR4 LHX3_HUMAN LIM homeobox protein 3 isoform a 201 Homeobox. inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 Myeloproliferative disorder(178;0.0511) Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07) CTGACCTGCACCACGCGCATG 0.741 NA 27 1 4.87955e-14 6.38502e-14 0.005443 1 0 FAM69B 138311 broad.mit.edu 37 9 139617948 139617948 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:139617948T>A uc004cik.2 + 5 1112 c.1018T>A c.(1018-1020)TGC>AGC p.C340S FAM69B_uc004cil.2_Missense_Mutation_p.C253S|SNHG7_uc004cim.2_Intron NM_152421 NP_689634 Q5VUD6 FA69B_HUMAN hypothetical protein LOC138311 340 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane 0 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013) CAGCACCGACTGCACCTACGG 0.682 NA 13 0 0 0 0.001368 0 0 ABCA2 20 broad.mit.edu 37 9 139912785 139912785 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:139912785C>T uc011mem.1 - 13 1983 c.1835G>A c.(1834-1836)CGG>CAG p.R612Q ABCA2_uc011mel.1_Missense_Mutation_p.R613Q|ABCA2_uc004ckl.1_Missense_Mutation_p.R543Q|ABCA2_uc004ckm.1_Missense_Mutation_p.R643Q|ABCA2_uc004ckn.1_RNA|ABCA2_uc004cko.1_Missense_Mutation_p.R389Q NM_001606 NP_001597 Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A, member 2 612 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances 0 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) GCCGTCCTTCCGGGTCTGGAA 0.408 NA 46 5 0 0 0.00361 0 0 SHOX 6473 broad.mit.edu 37 X 591819 591819 + Missense_Mutation SNP G G T rs138243769 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:591819G>T uc004cph.1 + 2 878 c.187G>T c.(187-189)GGC>TGC p.G63C SHOX_uc004cpi.2_Missense_Mutation_p.G63C NM_000451 NP_000442 O15266 SHOX_HUMAN short stature homeobox isoform SHOXa 63 skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CACGGAGGGCGGCGGCCACTG 0.582 Ovarian(95;18 1419 12424 14056 28266) NA 52 20 7.05377e-20 1.03663e-19 0.00361 1 0 P2RY8 286530 broad.mit.edu 37 X 1584744 1584744 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:1584744C>A uc004cpz.2 - 2 956 c.708G>T c.(706-708)GTG>GTT p.V236V NM_178129 NP_835230 Q86VZ1 P2RY8_HUMAN G-protein coupled purinergic receptor P2Y8 236 Cytoplasmic (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(5) 5 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CGGCCAGGCCCACCGCGCGCC 0.657 NA T CRLF2 B-ALL|Downs associated ALL 13 7 2.27111e-07 2.59901e-07 0.001368 1 0 MXRA5 25878 broad.mit.edu 37 X 3238188 3238188 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:3238188G>T uc004crg.3 - 5 5695 c.5538C>A c.(5536-5538)TTC>TTA p.F1846L NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 1846 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) CAAGAGACCAGAATTTGGATG 0.507 NA 25 7 3.28513e-13 4.2328e-13 0.003954 1 0 MXRA5 25878 broad.mit.edu 37 X 3242201 3242201 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:3242201G>T uc004crg.3 - 5 1682 c.1525C>A c.(1525-1527)CCA>ACA p.P509T NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 509 Ig-like C2-type 1. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) AAGATAGATGGACTCTCAGAA 0.532 NA 58 9 1.0442e-30 1.74695e-30 0.00361 1 0 PRPS2 5634 broad.mit.edu 37 X 12817345 12817345 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:12817345G>T uc004cvb.2 + 2 266 c.142G>T c.(142-144)GTG>TTG p.V48L PRPS2_uc004cva.2_Missense_Mutation_p.V48L|PRPS2_uc010nec.2_5'UTR NM_002765 NP_002756 P11908 PRPS2_HUMAN phosphoribosyl pyrophosphate synthetase 2 48 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity 0 TGGTGAAAGCGTGAGAGGGGA 0.393 NA 19 5 1.45105e-14 1.9182e-14 0.006122 1 0 FAM48B2 170067 broad.mit.edu 37 X 24330962 24330962 + Silent SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:24330962A>G uc011mjw.1 - 1 471 c.471T>C c.(469-471)CCT>CCC p.P157P NM_001136233 NP_001129705 P0C7V6 F48B2_HUMAN family with sequence similarity 48, member B2 157 0 GGTAACCAGGAGGTTGCATAT 0.468 NA 32 10 0 0 0.00361 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212836 26212836 + Silent SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:26212836C>G uc004dbr.2 + 2 1022 c.873C>G c.(871-873)CTC>CTG p.L291L MAGEB6_uc010ngc.1_Silent_p.L71L NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 291 MAGE. ovary(3) 3 TGATGTCGCTCCTGGTTGTGA 0.542 NA 78 19 0 0 0.00361 0 0 MAGEB10 139422 broad.mit.edu 37 X 27839475 27839475 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:27839475G>T uc004dbw.2 + 3 279 c.52G>T c.(52-54)GCC>TCC p.A18S NM_182506 NP_872312 Q96LZ2 MAGBA_HUMAN melanoma antigen family B, 10 18 lung(1)|breast(1)|central_nervous_system(1) 3 ACGCCGTCAGGCCCGAGGAGG 0.522 NA 13 6 3.27435e-08 3.81942e-08 0.00245 1 0 DCAF8L1 139425 broad.mit.edu 37 X 27998429 27998429 + Silent SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:27998429A>G uc004dbx.1 - 1 1138 c.1023T>C c.(1021-1023)TCT>TCC p.S341S NM_001017930 NP_001017930 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 341 WD 4. ovary(3)|skin(1) 4 CAGGATTCATAGAGATTGTAT 0.403 NA 7 13 0 0 0.001984 0 0 DMD 1756 broad.mit.edu 37 X 32717412 32717412 + Splice_Site SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:32717412T>C uc004dda.1 - 8 894 c.650_splice c.e8-1 p.D217_splice DMD_uc004dcz.2_Splice_Site_p.D94_splice|DMD_uc004dcy.1_Splice_Site_p.D213_splice|DMD_uc004ddb.1_Splice_Site_p.D209_splice|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Splice_Site_p.D209_splice|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron|DMD_uc010ngr.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TATCAACATCTGTAAGCACAT 0.353 NA 8 6 0 0 0.004482 0 0 FAM47A 158724 broad.mit.edu 37 X 34149284 34149284 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:34149284C>A uc004ddg.2 - 1 1145 c.1112G>T c.(1111-1113)CGG>CTG p.R371L NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 371 ovary(4)|central_nervous_system(1) 5 ACTGGACCCCCGACGAGTCTT 0.642 NA 25 6 1.36565e-18 1.96369e-18 0.00278 1 0 FAM47A 158724 broad.mit.edu 37 X 34149686 34149686 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:34149686G>T uc004ddg.2 - 1 743 c.710C>A c.(709-711)CCG>CAG p.P237Q NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 237 Pro-rich. ovary(4)|central_nervous_system(1) 5 TGGAGGCTCCGGGCGGAGATG 0.632 NA 28 5 3.73148e-12 4.73846e-12 0.007291 1 0 FAM47A 158724 broad.mit.edu 37 X 34150015 34150015 + Silent SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:34150015G>T uc004ddg.2 - 1 414 c.381C>A c.(379-381)GCC>GCA p.A127A NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 127 ovary(4)|central_nervous_system(1) 5 AGGGATGCTTGGCCATTAGCT 0.542 NA 32 6 1.22384e-17 1.73272e-17 0.002836 1 0 MED14 9282 broad.mit.edu 37 X 40531114 40531114 + Silent SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:40531114T>C uc004dex.3 - 23 3272 c.3132A>G c.(3130-3132)CCA>CCG p.P1044P NM_004229 NP_004220 O60244 MED14_HUMAN mediator complex subunit 14 1044 Pro-rich. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(2)|kidney(1)|skin(1) 4 ATATCTTACCTGGAGACTGTG 0.433 NA 61 9 0 0 0.00361 0 0 ZNF182 7569 broad.mit.edu 37 X 47836120 47836120 + Nonsense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:47836120T>A uc004dir.2 - 7 1712 c.1366A>T c.(1366-1368)AAA>TAA p.K456* ZNF182_uc004dis.2_Nonsense_Mutation_p.K437*|ZNF182_uc004dit.2_Nonsense_Mutation_p.K456*|ZNF182_uc011mlu.1_Nonsense_Mutation_p.K436* NM_006962 NP_008893 P17025 ZN182_HUMAN zinc finger protein 21 isoform 1 456 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|lung(1) 3 TCAAAGGGTTTCTCTCCTGAA 0.428 NA 16 4 0 0 0.003163 0 0 ZNF182 7569 broad.mit.edu 37 X 47836531 47836531 + Nonsense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:47836531C>A uc004dir.2 - 7 1301 c.955G>T c.(955-957)GAA>TAA p.E319* ZNF182_uc004dis.2_Nonsense_Mutation_p.E300*|ZNF182_uc004dit.2_Nonsense_Mutation_p.E319*|ZNF182_uc011mlu.1_Nonsense_Mutation_p.E299* NM_006962 NP_008893 P17025 ZN182_HUMAN zinc finger protein 21 isoform 1 319 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|lung(1) 3 TCATTACATTCATAAGGTTTT 0.418 NA 17 5 1.37522e-17 1.93996e-17 0.007413 1 0 SSX1 6756 broad.mit.edu 37 X 48121245 48121245 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:48121245C>A uc004djb.1 + 5 416 c.325C>A c.(325-327)CCG>ACG p.P109T NM_005635 NP_005626 Q16384 SSX1_HUMAN synovial sarcoma, X breakpoint 1 109 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|transcription corepressor activity SS18/SSX1(1169) soft_tissue(1169) 1169 CAGAATCATCCCGAAGGTGAG 0.408 Esophageal Squamous(175;994 1982 2214 6527 18857) NA 15 3 2.85442e-18 4.08015e-18 0.002096 1 0 SSX1 6756 broad.mit.edu 37 X 48121247 48121247 + Silent SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:48121247G>C uc004djb.1 + 5 418 c.327G>C c.(325-327)CCG>CCC p.P109P NM_005635 NP_005626 Q16384 SSX1_HUMAN synovial sarcoma, X breakpoint 1 109 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|transcription corepressor activity SS18/SSX1(1169) soft_tissue(1169) 1169 GAATCATCCCGAAGGTGAGTA 0.408 Esophageal Squamous(175;994 1982 2214 6527 18857) NA 13 3 0 0 0.009535 0 0 SLC38A5 92745 broad.mit.edu 37 X 48320401 48320401 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:48320401C>A uc010nid.2 - 11 941 c.763G>T c.(763-765)GAC>TAC p.D255Y SLC38A5_uc004djk.3_Missense_Mutation_p.D204Y NM_033518 NP_277053 Q8WUX1 S38A5_HUMAN solute carrier family 38, member 5 255 Extracellular (Potential). cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane ovary(3) 3 ACCTGTGAGTCAACTGTGAAC 0.527 NA 8 2 5.18039e-06 5.70876e-06 0.00308 1 0 GATA1 2623 broad.mit.edu 37 X 48650612 48650612 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:48650612C>A uc004dkq.3 + 3 673 c.582C>A c.(580-582)CTC>CTA p.L194L NM_002049 NP_002040 P15976 GATA1_HUMAN GATA binding protein 1 194 basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter nuclear membrane|nucleolus|nucleoplasm C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.?(2)|p.V74_C199del(1) haematopoietic_and_lymphoid_tissue(246)|lung(2) 248 GTGGAACTCTCCCCCTGCCTC 0.552 Pancreas(9;429 505 11287 29617) NA Mis|F megakaryoblastic leukemia of Downs Syndrome 23 6 3.83957e-06 4.24813e-06 0.00278 1 0 CCNB3 85417 broad.mit.edu 37 X 50053609 50053609 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:50053609G>T uc004dox.3 + 6 2738 c.2440G>T c.(2440-2442)GCT>TCT p.A814S CCNB3_uc004doy.2_Missense_Mutation_p.A814S|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 814 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) TGAGAAGGAAGCTGTCCTCAA 0.567 NA 8 2 2.17888e-05 2.37539e-05 0.006214 1 0 WNK3 65267 broad.mit.edu 37 X 54282275 54282275 + Silent SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:54282275A>G uc004dtd.1 - 12 2587 c.2148T>C c.(2146-2148)CCT>CCC p.P716P WNK3_uc004dtc.1_Silent_p.P716P NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 716 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 TTGGGTTATCAGGGCTACTGA 0.418 NA 3 38 0 0 0.009096 0 0 ALAS2 212 broad.mit.edu 37 X 55042087 55042087 + Silent SNP C C G rs150494562 byFrequency TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:55042087C>G uc004dua.3 - 8 1230 c.1092G>C c.(1090-1092)CTG>CTC p.L364L ALAS2_uc004dub.3_Silent_p.L351L|ALAS2_uc004dud.3_Silent_p.L327L NM_000032 NP_000023 P22557 HEM0_HUMAN 5-aminolevulinate synthase 2 isoform a 364 cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups ovary(1) 1 Glycine(DB00145) GGGACCCATACAGTCCTACAG 0.542 NA 23 10 0 0 0.001882 0 0 USP51 158880 broad.mit.edu 37 X 55513961 55513961 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:55513961C>A uc004dun.1 - 2 1491 c.1412G>T c.(1411-1413)GGG>GTG p.G471V USP51_uc011moo.1_Missense_Mutation_p.G175V NM_201286 NP_958443 Q70EK9 UBP51_HUMAN ubiquitin specific protease 51 471 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 GGCCTCCTGCCCACCACTATC 0.468 NA 41 14 2.40228e-13 3.1077e-13 0.003214 1 0 MTMR8 55613 broad.mit.edu 37 X 63569932 63569932 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:63569932G>T uc004dvs.2 - 5 555 c.487C>A c.(487-489)CCT>ACT p.P163T MTMR8_uc011mou.1_Missense_Mutation_p.P163T|MTMR8_uc004dvt.1_Missense_Mutation_p.P163T NM_017677 NP_060147 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 163 Myotubularin phosphatase. nuclear envelope protein tyrosine phosphatase activity ovary(2)|breast(2) 4 ACTATTTCAGGAGGGTAGGTG 0.343 NA 26 6 9.39395e-14 1.22343e-13 0.00632 1 0 NHSL2 340527 broad.mit.edu 37 X 71360027 71360027 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:71360027G>T uc011mqa.1 + 6 2629 c.2629G>T c.(2629-2631)GTG>TTG p.V877L NHSL2_uc004eak.1_Missense_Mutation_p.V511L|NHSL2_uc010nli.2_Missense_Mutation_p.V646L NM_001013627 NP_001013649 Q5HYW2 NHSL2_HUMAN NHS-like 2 877 0 Renal(35;0.156) GAAGCCTCCGGTGGCCCGGAG 0.547 NA 21 8 1.50039e-11 1.88181e-11 0.001882 1 0 CDX4 1046 broad.mit.edu 37 X 72667208 72667208 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:72667208C>G uc011mqk.1 + 1 119 c.119C>G c.(118-120)CCA>CGA p.P40R NM_005193 NP_005184 O14627 CDX4_HUMAN caudal type homeobox 4 40 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Renal(35;0.156) AGTCCGATGCCAGCCTCCAAT 0.632 NA 12 2 0 0 0.000978 0 0 MAGEE1 57692 broad.mit.edu 37 X 75649313 75649313 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:75649313C>T uc004ecm.1 + 1 1197 c.990C>T c.(988-990)ACC>ACT p.T330T NM_020932 NP_065983 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 330 Pro-rich. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|ovary(1)|pancreas(1)|skin(1) 6 GACTGAGCACCTCCGTGCCGC 0.706 NA 15 3 0 0 0.004007 0 0 CYSLTR1 10800 broad.mit.edu 37 X 77528879 77528879 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:77528879C>A uc004edb.2 - 3 765 c.365G>T c.(364-366)TGC>TTC p.C122F CYSLTR1_uc010nma.2_Missense_Mutation_p.C122F|CYSLTR1_uc010nmb.2_Missense_Mutation_p.C122F NM_006639 NP_006630 Q9Y271 CLTR1_HUMAN cysteinyl leukotriene receptor 1 122 Helical; Name=3; (Potential). elevation of cytosolic calcium ion concentration|respiratory gaseous exchange integral to plasma membrane|membrane fraction leukotriene receptor activity ovary(1) 1 Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549) AATTGCAATGCACCGGAAAAA 0.408 NA 9 3 7.48243e-07 8.41338e-07 0.006214 1 0 TBX22 50945 broad.mit.edu 37 X 79286084 79286084 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:79286084C>G uc010nmg.1 + 9 1171 c.1037C>G c.(1036-1038)CCT>CGT p.P346R TBX22_uc004edi.1_Missense_Mutation_p.P226R|TBX22_uc004edj.1_Missense_Mutation_p.P346R NM_001109878 NP_001103348 Q9Y458 TBX22_HUMAN T-box 22 isoform 1 346 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1) 15 TGCTTTTCACCTATGTTTCAT 0.483 NA 39 7 0 0 0.004878 0 0 BRWD3 254065 broad.mit.edu 37 X 79947450 79947450 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:79947450C>G uc004edt.2 - 30 3616 c.3353G>C c.(3352-3354)GGT>GCT p.G1118A BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.G714A|BRWD3_uc004edp.2_Missense_Mutation_p.G947A|BRWD3_uc004edq.2_Missense_Mutation_p.G714A|BRWD3_uc010nmj.1_Missense_Mutation_p.G714A|BRWD3_uc004edr.2_Missense_Mutation_p.G788A|BRWD3_uc004eds.2_Missense_Mutation_p.G714A|BRWD3_uc004edu.2_Missense_Mutation_p.G788A|BRWD3_uc004edv.2_Missense_Mutation_p.G714A|BRWD3_uc004edw.2_Missense_Mutation_p.G714A|BRWD3_uc004edx.2_Missense_Mutation_p.G714A|BRWD3_uc004edy.2_Missense_Mutation_p.G714A|BRWD3_uc004edz.2_Missense_Mutation_p.G788A|BRWD3_uc004eea.2_Missense_Mutation_p.G788A|BRWD3_uc004eeb.2_Missense_Mutation_p.G714A NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1118 ovary(4) 4 GACAGGAACACCAGCACCAAC 0.378 NA 6 3 0 0 0.001168 0 0 CPXCR1 53336 broad.mit.edu 37 X 88008694 88008694 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:88008694G>T uc004efd.3 + 3 538 c.279G>T c.(277-279)CAG>CAT p.Q93H CPXCR1_uc004efc.3_Missense_Mutation_p.Q93H NM_033048 NP_149037 Q8N123 CPXCR_HUMAN CPX chromosome region, candidate 1 93 intracellular zinc ion binding ovary(3) 3 TTCTACTTCAGACCCCCATTC 0.413 NA 9 4 9.70103e-10 1.17042e-09 0.008291 1 0 PCDH11X 27328 broad.mit.edu 37 X 91134082 91134082 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:91134082T>A uc004efk.1 + 2 3688 c.2843T>A c.(2842-2844)TTC>TAC p.F948Y PCDH11X_uc004efl.1_Missense_Mutation_p.F948Y|PCDH11X_uc004efo.1_Missense_Mutation_p.F948Y|PCDH11X_uc010nmv.1_Missense_Mutation_p.F948Y|PCDH11X_uc004efm.1_Missense_Mutation_p.F948Y|PCDH11X_uc004efn.1_Missense_Mutation_p.F948Y|PCDH11X_uc004efh.1_Missense_Mutation_p.F948Y|PCDH11X_uc004efj.1_Missense_Mutation_p.F948Y NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 948 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 CAGCCTGCCTTCCAAATTCAG 0.488 NSCLC(38;925 1092 2571 38200 45895) NA 63 24 0 0 0.00361 0 0 TCEAL2 140597 broad.mit.edu 37 X 101382344 101382344 + Missense_Mutation SNP G G A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:101382344G>A uc004eip.2 + 3 761 c.542G>A c.(541-543)AGG>AAG p.R181K NM_080390 NP_525129 Q9H3H9 TCAL2_HUMAN transcription elongation factor A (SII)-like 2 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 GAGGATAAAAGGAGAAAAAGC 0.433 NA 42 16 0 0 0.002522 0 0 TCEAL6 158931 broad.mit.edu 37 X 101396142 101396142 + Silent SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:101396142T>A uc004eiq.2 - 3 323 c.162A>T c.(160-162)CCA>CCT p.P54P NM_001006938 NP_001006939 Q6IPX3 TCAL6_HUMAN transcription elongation factor A (SII)-like 6 54 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 cctcatcacctggctctccct 0.264 NA 45 15 0 0 0.002522 0 0 GPRASP2 114928 broad.mit.edu 37 X 101972246 101972246 + Nonsense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:101972246G>T uc004ejk.2 + 4 3783 c.2449G>T c.(2449-2451)GAG>TAG p.E817* GPRASP2_uc004ejl.2_Nonsense_Mutation_p.E817*|GPRASP2_uc004ejm.2_Nonsense_Mutation_p.E817*|GPRASP2_uc011mrp.1_Nonsense_Mutation_p.E156* NM_138437 NP_612446 Q96D09 GASP2_HUMAN G protein-coupled receptor associated sorting 817 cytoplasm protein binding ovary(1) 1 TGAATTTGAGGAGTTAGCTAA 0.378 NA 36 7 1.60099e-16 2.20692e-16 0.004878 1 0 RAB40AL 282808 broad.mit.edu 37 X 102192749 102192749 + Missense_Mutation SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:102192749C>T uc004ejs.2 + 1 550 c.503C>T c.(502-504)ACG>ATG p.T168M NM_001031834 NP_001027004 P0C0E4 RB40L_HUMAN RAB40A, member RAS oncogene family-like 168 protein transport|small GTPase mediated signal transduction mitochondrion|plasma membrane GTP binding ovary(2) 2 GAGTCTTTCACGGAGCTGGCC 0.612 NA 16 3 0 0 0.003163 0 0 GLRA4 441509 broad.mit.edu 37 X 102979467 102979467 + Splice_Site SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:102979467A>T uc011mse.1 - 3 691 c.270_splice c.e3+1 p.M90_splice GLRA4_uc010nou.2_Splice_Site_p.M90_splice NM_001024452 NP_001019623 Q5JXX5 GLRA4_HUMAN glycine receptor, alpha 4 precursor cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity 0 GAGATCCCTTACCATTGTGGT 0.542 NA 4 0 0 0 0.000602 0 0 PLP1 5354 broad.mit.edu 37 X 103040647 103040647 + Silent SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:103040647T>A uc010nov.2 + 3 421 c.141T>A c.(139-141)ATT>ATA p.I47I RAB9B_uc004eli.1_Intron|PLP1_uc004elk.2_Silent_p.I47I|PLP1_uc004elj.2_Silent_p.I47I|PLP1_uc011msf.1_Intron|PLP1_uc010now.1_Silent_p.I51I|PLP1_uc010nox.2_5'Flank NM_001128834 NP_001122306 P60201 MYPR_HUMAN proteolipid protein 1 isoform 1 47 Extracellular (Probable). cell death|synaptic transmission integral to membrane ovary(1) 1 AAAAGCTAATTGAGACCTATT 0.483 NA 68 18 0 0 0.00361 0 0 IRS4 8471 broad.mit.edu 37 X 107977509 107977509 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:107977509G>T uc004eoc.2 - 1 2099 c.2066C>A c.(2065-2067)GCC>GAC p.A689D NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 689 CRK-binding. plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 AAAAGCTCTGGCTCTGTGGGG 0.502 NA 106 17 6.36747e-66 1.18639e-65 0.00361 1 0 GUCY2F 2986 broad.mit.edu 37 X 108708535 108708535 + Missense_Mutation SNP A A G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:108708535A>G uc004eod.3 - 3 1144 c.868T>C c.(868-870)TAT>CAT p.Y290H GUCY2F_uc011msq.1_RNA NM_001522 NP_001513 P51841 GUC2F_HUMAN guanylate cyclase 2F precursor 290 Extracellular (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity lung(4)|breast(3)|central_nervous_system(1) 8 GTGTGCTTATAAGGTAAACTG 0.468 NA 28 12 0 0 0.00361 0 0 PAK3 5063 broad.mit.edu 37 X 110463590 110463590 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:110463590C>A uc004epa.2 + 15 1622 c.1595C>A c.(1594-1596)CCA>CAA p.P532Q PAK3_uc010npt.1_Missense_Mutation_p.P517Q|PAK3_uc010npu.1_Missense_Mutation_p.P517Q|PAK3_uc004eoz.2_Missense_Mutation_p.P517Q|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Missense_Mutation_p.P553Q|PAK3_uc010npw.1_Missense_Mutation_p.P538Q NM_001128173 NP_001121645 O75914 PAK3_HUMAN p21-activated kinase 3 isoform d 532 Protein kinase. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding lung(6)|ovary(3)|large_intestine(1) 10 TTGCAGCATCCATTTTTAAAA 0.388 NA TSP Lung(19;0.15) 6 5 0.00198382 0.00205832 0.001984 1 0 TRPC5 7224 broad.mit.edu 37 X 111090614 111090614 + Silent SNP C C T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:111090614C>T uc004epl.1 - 6 2347 c.1428G>A c.(1426-1428)CTG>CTA p.L476L TRPC5_uc004epm.1_Silent_p.L476L NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 476 Helical; (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 CTTCCGCAATCAGAGTCGGGT 0.453 NA 13 5 0 0 0.00245 0 0 TRPC5 7224 broad.mit.edu 37 X 111195290 111195290 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:111195290C>G uc004epl.1 - 2 1278 c.359G>C c.(358-360)CGG>CCG p.R120P TRPC5_uc004epm.1_Missense_Mutation_p.R120P NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 120 ANK 3.|Cytoplasmic (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 TCCGCTGGGCCGCCTGTAGCT 0.547 NA 46 6 0 0 0.002852 0 0 ZBTB33 10009 broad.mit.edu 37 X 119388873 119388873 + Nonsense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:119388873G>T uc004esn.1 + 2 1831 c.1603G>T c.(1603-1605)GAA>TAA p.E535* ZBTB33_uc010nqm.1_Nonsense_Mutation_p.E535* NM_006777 NP_006768 Q86T24 KAISO_HUMAN kaiso 535 C2H2-type 2.|Interaction with CTNND1 (By similarity).|Required for DNA-binding (By similarity). intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleolus|plasma membrane DNA binding|protein binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 TCCTCTTGCAGAATATCGCAC 0.423 NA 42 9 1.23103e-26 1.98566e-26 0.003214 1 0 THOC2 57187 broad.mit.edu 37 X 122802161 122802161 + Missense_Mutation SNP A A C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:122802161A>C uc004etu.2 - 10 898 c.866T>G c.(865-867)CTT>CGT p.L289R THOC2_uc011muh.1_Missense_Mutation_p.L210R|THOC2_uc011mui.1_Missense_Mutation_p.L174R NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN THO complex 2 289 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding ovary(3) 3 ATCAGCCGGAAGAAGCTAAAA 0.299 NA 35 14 0 0 0.002836 0 0 ACTRT1 139741 broad.mit.edu 37 X 127185830 127185830 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:127185830C>A uc004eum.2 - 1 553 c.356G>T c.(355-357)CGA>CTA p.R119L NM_138289 NP_612146 Q8TDG2 ACTT1_HUMAN actin-related protein T1 119 cytoplasm|cytoskeleton ovary(2)|central_nervous_system(2)|skin(1) 5 TAGCTTTTCTCGAATTTCCCT 0.488 NA 92 25 2.68325e-40 4.74786e-40 0.00361 1 0 FAM45B 55855 broad.mit.edu 37 X 129629754 129629754 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:129629754C>A uc010nrh.2 + 1 840 c.622C>A c.(622-624)CAG>AAG p.Q208K uc004evu.2_Intron NM_207009 NP_996892 hypothetical protein LOC404636 skin(1) 1 all cancers(201;0.0293) GTGGCACCGACAGGACTGGAC 0.537 NA 32 11 7.11191e-15 9.49891e-15 0.002836 1 0 TFDP3 51270 broad.mit.edu 37 X 132351734 132351734 + Missense_Mutation SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:132351734T>C uc004exb.1 - 1 643 c.554A>G c.(553-555)AAG>AGG p.K185R NM_016521 NP_057605 Q5H9I0 TFDP3_HUMAN transcription factor Dp family, member 3 185 Potential.|Involved in negatively regulating E2F activity.|DEF box (By similarity). transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) ACCAATCCACTTGATCTTCTT 0.443 NA 15 5 0 0 0.00245 0 0 GPC4 2239 broad.mit.edu 37 X 132445320 132445320 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:132445320T>A uc004exc.1 - 4 1055 c.843A>T c.(841-843)CAA>CAT p.Q281H GPC4_uc011mvg.1_Missense_Mutation_p.Q211H NM_001448 NP_001439 O75487 GPC4_HUMAN glypican 4 precursor 281 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding 0 Acute lymphoblastic leukemia(192;0.000127) CGAGATCCCCTTGGTTGGCCA 0.453 NA 45 3 0 0 0.00361 0 0 SAGE1 55511 broad.mit.edu 37 X 134983781 134983781 + Nonsense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:134983781A>T uc004ezh.2 + 3 318 c.151A>T c.(151-153)AGA>TGA p.R51* SAGE1_uc010nry.1_Nonsense_Mutation_p.R51*|SAGE1_uc011mvv.1_Nonsense_Mutation_p.R51* NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 51 ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(192;0.000127) GAAACATTCCAGAAAATCCAA 0.408 NA 77 14 0 0 0.00361 0 0 SAGE1 55511 broad.mit.edu 37 X 134990679 134990679 + Silent SNP T T C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:134990679T>C uc004ezh.2 + 12 1511 c.1344T>C c.(1342-1344)AAT>AAC p.N448N SAGE1_uc010nry.1_Silent_p.N417N|SAGE1_uc011mvv.1_Intron NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 448 ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(192;0.000127) GGATGGAAAATGGCCAACGAA 0.433 NA 34 7 0 0 0.002836 0 0 GPR112 139378 broad.mit.edu 37 X 135427303 135427303 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:135427303G>T uc004ezu.1 + 6 1729 c.1438G>T c.(1438-1440)GTA>TTA p.V480L GPR112_uc010nsb.1_Missense_Mutation_p.V275L|GPR112_uc010nsc.1_Missense_Mutation_p.V247L NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 480 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) AGCTGCTCCAGTAGATTCTGT 0.443 NA 35 4 3.66082e-28 6.00511e-28 0.005524 1 0 VGLL1 51442 broad.mit.edu 37 X 135618368 135618368 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:135618368G>T uc004ezy.2 + 2 359 c.189G>T c.(187-189)CAG>CAT p.Q63H NM_016267 NP_057351 Q99990 VGLL1_HUMAN vestigial like 1 63 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus transcription coactivator activity 0 Acute lymphoblastic leukemia(192;0.000127) CCTCGAGTCAGAGTGAAGGTG 0.527 NA 30 7 1.13719e-10 1.39995e-10 0.008361 1 0 SOX3 6658 broad.mit.edu 37 X 139586651 139586651 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:139586651G>T uc004fbd.1 - 1 575 c.575C>A c.(574-576)GCC>GAC p.A192D NM_005634 NP_005625 P41225 SOX3_HUMAN SRY (sex determining region Y)-box 3 192 HMG box. face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent nucleus DNA binding pancreas(1) 1 Acute lymphoblastic leukemia(192;7.65e-05) AAGTCGCTTGGCCTCGTCGAT 0.572 NA 24 5 2.39556e-15 3.23761e-15 0.00278 1 0 SLITRK4 139065 broad.mit.edu 37 X 142716747 142716747 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:142716747G>T uc004fbx.2 - 2 2554 c.2178C>A c.(2176-2178)GAC>GAA p.D726E SLITRK4_uc004fby.2_Missense_Mutation_p.D726E NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 726 Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) CTTTCTCCTTGTCGGCCACAT 0.418 NA 37 17 3.93418e-24 6.1609e-24 0.004289 1 0 SLITRK2 84631 broad.mit.edu 37 X 144905527 144905527 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:144905527G>T uc004fcd.2 + 5 2574 c.1584G>T c.(1582-1584)GAG>GAT p.E528D SLITRK2_uc010nsp.2_Missense_Mutation_p.E528D|SLITRK2_uc010nso.2_Missense_Mutation_p.E528D|SLITRK2_uc011mwq.1_Missense_Mutation_p.E528D|SLITRK2_uc011mwr.1_Missense_Mutation_p.E528D|SLITRK2_uc011mws.1_Missense_Mutation_p.E528D|SLITRK2_uc004fcg.2_Missense_Mutation_p.E528D|SLITRK2_uc011mwt.1_Missense_Mutation_p.E528D NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 528 Extracellular (Potential). integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) ATCTGCAGGAGAACCCCTGGG 0.507 NA 27 5 1.2476e-16 1.72347e-16 0.00632 1 0 MAGEA11 4110 broad.mit.edu 37 X 148797834 148797834 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:148797834G>C uc004fdq.2 + 5 790 c.688G>C c.(688-690)GTT>CTT p.V230L HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.V201L NM_005366 NP_005357 P43364 MAGAB_HUMAN melanoma antigen family A, 11 isoform a 230 MAGE. cytoplasm|nucleus protein binding ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) AATTGATTTGGTTCATTTATT 0.453 NA 39 12 0 0 0.007835 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303310 151303310 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:151303310G>C uc004ffk.2 - 5 1191 c.783C>G c.(781-783)CAC>CAG p.H261Q MAGEA10_uc004ffl.2_Missense_Mutation_p.H261Q NM_001011543 NP_001011543 P43363 MAGAA_HUMAN melanoma antigen family A, 10 261 MAGE. 0 Acute lymphoblastic leukemia(192;6.56e-05) CATAAATGAGGTGCTCCATCC 0.532 NA 34 14 0 0 0.002836 0 0 GABRQ 55879 broad.mit.edu 37 X 151821301 151821301 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:151821301G>T uc004ffp.1 + 9 1476 c.1456G>T c.(1456-1458)GTC>TTC p.V486F NM_018558 NP_061028 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) receptor, theta 486 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) CCGCAACCGTGTCGAAGCCCA 0.552 NA 52 14 2.12129e-23 3.28468e-23 0.00361 1 0 ZNF275 10838 broad.mit.edu 37 X 152612393 152612393 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:152612393G>C uc004fhg.1 + 4 427 c.250G>C c.(250-252)GAC>CAC p.D84H ZNF275_uc011mym.1_Missense_Mutation_p.D84H|ZNF275_uc011myn.1_Missense_Mutation_p.D21H A6NFS0 A6NFS0_HUMAN SubName: Full=cDNA FLJ16723 fis, clone UTERU3004418, highly similar to Zinc finger protein 275; SubName: Full=Putative uncharacterized protein ZNF275; 84 intracellular nucleic acid binding|zinc ion binding ovary(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ACAGCACGGGGACTCTGACGG 0.552 NA 16 2 0 0 0.004007 0 0 ATP2B3 492 broad.mit.edu 37 X 152814969 152814969 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:152814969C>A uc004fht.1 + 9 1479 c.1353C>A c.(1351-1353)GAC>GAA p.D451E ATP2B3_uc004fhs.1_Missense_Mutation_p.D451E NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN plasma membrane calcium ATPase 3 isoform 3b 451 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGATGAAAGACAACAACCTGG 0.577 NA 41 16 5.44703e-19 7.88514e-19 0.009718 1 0 FLNA 2316 broad.mit.edu 37 X 153593005 153593005 + Silent SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:153593005C>A uc004fkk.2 - 13 2160 c.1911G>T c.(1909-1911)CCG>CCT p.P637P FLNA_uc010nuu.1_Silent_p.P637P NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 637 Filamin 4. P -> Q (in CVDX). actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CAGCCTCCTGCGGCCAGTAGC 0.617 NA 39 10 2.75727e-19 4.01246e-19 0.004878 1 0 PLXNA3 55558 broad.mit.edu 37 X 153698332 153698332 + Missense_Mutation SNP G G T rs142245785 byFrequency TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:153698332G>T uc004flm.2 + 29 4981 c.4808G>T c.(4807-4809)CGC>CTC p.R1603L NM_017514 NP_059984 P51805 PLXA3_HUMAN plexin A3 precursor 1603 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AGCTTGCTCCGCACGGCCAGC 0.622 NA 28 3 7.76418e-22 1.18236e-21 0.005443 1 0 G6PD 2539 broad.mit.edu 37 X 153762266 153762266 + Missense_Mutation SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:153762266C>G uc004fly.1 - 7 867 c.754G>C c.(754-756)GAA>CAA p.E252Q G6PD_uc004flx.1_Missense_Mutation_p.E282Q NM_001042351 NP_001035810 P11413 G6PD_HUMAN glucose-6-phosphate dehydrogenase isoform b 252 cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity ovary(4) 4 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ATCCCAAATTCATCGAAATAG 0.592 NA 33 11 0 0 0.003271 0 0 F8 2157 broad.mit.edu 37 X 154157366 154157366 + Nonsense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:154157366T>A uc004fmt.2 - 14 4870 c.4699A>T c.(4699-4701)AGA>TGA p.R1567* NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 1567 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) GTTGCTACTCTCAGAAAGGGA 0.478 NA 79 27 0 0 0.00361 0 0 ATAD3B 83858 broad.mit.edu 37 1 1430994 1430995 + Frame_Shift_Del DEL GA GA - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 GA GA - - GA GA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:1430994_1430995delGA uc001afv.2 + 16 1845_1846 c.1744_1745delGA c.(1744-1746)GAGfs p.E582fs ATAD3B_uc001afx.2_Frame_Shift_Del_p.E536fs|ATAD3B_uc001afy.2_Frame_Shift_Del_p.E135fs NM_031921 NP_114127 Q5T9A4 ATD3B_HUMAN AAA-ATPase TOB3 582 ATP binding|nucleoside-triphosphatase activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GCGCGGGGTCGAGCACCCCCTA 0.649 NA 29 79 --- --- --- --- NA NA NA NA NA KIAA1751 85452 broad.mit.edu 37 1 1900161 1900161 + Frame_Shift_Del DEL C C - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:1900161delC uc001aim.1 - 11 1314 c.1158delG c.(1156-1158)AGGfs p.R386fs KIAA1751_uc009vkz.1_Frame_Shift_Del_p.R386fs NM_001080484 NP_001073953 Q9C0B2 K1751_HUMAN hypothetical protein LOC85452 386 pancreas(1) 1 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) TCAGCCGGTGCCTGGCACTGG 0.527 NA 284 95 --- --- --- --- NA NA NA NA NA USP24 23358 broad.mit.edu 37 1 55567332 55567332 + Frame_Shift_Del DEL C C - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:55567332delC uc001cyg.3 - 40 4590 c.4590delG c.(4588-4590)GGGfs p.G1530fs NM_015306 NP_056121 Q9UPU5 UBP24_HUMAN ubiquitin specific protease 24 1690 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(6)|kidney(6)|breast(1) 13 CATTTCTCAGCCCCACAAACC 0.463 NA 8 32 --- --- --- --- NA NA NA NA NA LRRC7 57554 broad.mit.edu 37 1 70493969 70493970 + Frame_Shift_Ins INS - - AA TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:70493969_70493970insAA uc001dep.2 + 16 1826_1827 c.1796_1797insAA c.(1795-1797)TCAfs p.S599fs LRRC7_uc009wbg.2_Intron NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 599 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 GTTGAGAATTCAAATCCAACTG 0.406 NA 31 23 --- --- --- --- NA NA NA NA NA CLCA2 9635 broad.mit.edu 37 1 86904751 86904751 + Frame_Shift_Del DEL G G - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:86904751delG uc001dlr.3 + 7 1327 c.1165delG c.(1165-1167)GACfs p.D389fs NM_006536 NP_006527 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 precursor 389 VWFA.|Extracellular (Potential). cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity ovary(1)|breast(1)|skin(1) 3 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) AGCTAAAACAGACATCAGCAT 0.428 Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642) NA 11 41 --- --- --- --- NA NA NA NA NA C1orf59 113802 broad.mit.edu 37 1 109197453 109197453 + Frame_Shift_Del DEL G G - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:109197453delG uc001dvt.3 - 5 521 c.283delC c.(283-285)CTGfs p.L95fs C1orf59_uc001dvu.3_Frame_Shift_Del_p.L95fs|C1orf59_uc009wer.2_Frame_Shift_Del_p.L95fs NM_001102592 NP_001096062 Q5T8I9 HENMT_HUMAN hypothetical protein LOC113802 95 gene silencing by RNA|piRNA metabolic process P granule metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity 0 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0152)|Lung(183;0.0895)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.163) AAATCCCCCAGGAAAGGAGCT 0.398 NA 11 14 --- --- --- --- NA NA NA NA NA TTF2 8458 broad.mit.edu 37 1 117626641 117626642 + Frame_Shift_Del DEL CT CT - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 CT CT - - CT CT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:117626641_117626642delCT uc001egy.2 + 11 1925_1926 c.1905_1906delCT c.(1903-1908)GACTCTfs p.D635fs NM_003594 NP_003585 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase 635_636 Helicase ATP-binding. mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding ovary(1) 1 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) CTTCTCAAGACTCTTGTGACTT 0.327 NA 23 34 --- --- --- --- NA NA NA NA NA C1orf61 10485 broad.mit.edu 37 1 156384451 156384451 + Frame_Shift_Del DEL G G - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:156384451delG uc001fou.1 - 4 283 c.166delC c.(166-168)CGGfs p.R56fs C1orf61_uc001fov.1_RNA|C1orf61_uc001fow.1_Intron|C1orf61_uc001fox.1_RNA|C1orf61_uc001foy.1_RNA NM_006365 NP_006356 Q13536 CROC4_HUMAN transcriptional activator of the c-fos promoter 56 nucleus skin(1) 1 Hepatocellular(266;0.158) CTCACCGCCCGGGAGCTGTCC 0.562 NA OREG0006902 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=C1orf61|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 21 23 --- --- --- --- NA NA NA NA NA DARC 2532 broad.mit.edu 37 1 159175850 159175850 + Frame_Shift_Del DEL G G - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:159175850delG uc001fto.2 + 2 861 c.621delG c.(619-621)CAGfs p.Q207fs DARC_uc001ftp.3_Frame_Shift_Del_p.Q209fs NM_002036 NP_002027 Q16570 DUFFY_HUMAN Duffy blood group antigen isoform b 207 Extracellular (Potential). defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity ovary(1)|lung(1) 2 all_hematologic(112;0.0429) AGGCTTTGCAGGCCACACACA 0.577 NA 17 22 --- --- --- --- NA NA NA NA NA HMCN1 83872 broad.mit.edu 37 1 186062769 186062769 + Frame_Shift_Del DEL T T - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr1:186062769delT uc001grq.1 + 66 10393 c.10164delT c.(10162-10164)CATfs p.H3388fs NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 3388 Ig-like C2-type 32. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TCTCCTCCCATATCCGGTTAC 0.433 NA 36 122 --- --- --- --- NA NA NA NA NA APBB1IP 54518 broad.mit.edu 37 10 26825135 26825135 + Frame_Shift_Del DEL G G - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:26825135delG uc001iss.2 + 10 1354 c.1033delG c.(1033-1035)GGAfs p.G345fs APBB1IP_uc009xks.1_Frame_Shift_Del_p.G345fs NM_019043 NP_061916 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, 345 PH. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium lung(4)|skin(2)|central_nervous_system(1) 7 TGTACCCAAAGGAAAGACTAA 0.328 NA 70 78 --- --- --- --- NA NA NA NA NA RBP3 5949 broad.mit.edu 37 10 48388734 48388734 + Frame_Shift_Del DEL G G - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:48388734delG uc001jez.2 - 1 2258 c.2144delC c.(2143-2145)CCAfs p.P715fs NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 715 4 X approximate tandem repeats.|3. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) AGGGGGTGGTGGGGGTGCTTC 0.627 NA 11 57 --- --- --- --- NA NA NA NA NA SLK 9748 broad.mit.edu 37 10 105727509 105727511 + In_Frame_Del DEL CTT CTT - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 CTT CTT - - CTT CTT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:105727509_105727511delCTT uc001kxo.1 + 1 40_42 c.6_8delCTT c.(4-9)TCCTTC>TCC p.F4del SLK_uc001kxp.1_In_Frame_Del_p.F4del NM_014720 NP_055535 Q9H2G2 SLK_HUMAN serine/threonine kinase 2 4 apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GAAAAATGTCCTTCTTCAATTTC 0.394 NSCLC(111;540 1651 1927 4474 17706) NA 65 15 --- --- --- --- NA NA NA NA NA HABP2 3026 broad.mit.edu 37 10 115312947 115312948 + Frame_Shift_Del DEL GG GG - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr10:115312947_115312948delGG uc001lai.3 + 1 170_171 c.67_68delGG c.(67-69)GGGfs p.G23fs HABP2_uc010qrz.1_RNA|HABP2_uc010qry.1_5'UTR NM_004132 NP_004123 Q14520 HABP2_HUMAN hyaluronan binding protein 2 preproprotein 23 cell adhesion|proteolysis extracellular space glycosaminoglycan binding|serine-type endopeptidase activity ovary(2)|skin(1) 3 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) GACAGCCTGTGGGGTAAGTGTT 0.441 NA 34 18 --- --- --- --- NA NA NA NA NA OR8K1 390157 broad.mit.edu 37 11 56113743 56113743 + Frame_Shift_Del DEL C C - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:56113743delC uc010rjg.1 + 1 229 c.229delC c.(229-231)CTTfs p.L77fs NM_001002907 NP_001002907 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, 77 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) AATCACTGATCTTGGTTACTC 0.418 NA HNSCC(65;0.19) 34 92 --- --- --- --- NA NA NA NA NA LTBP3 4054 broad.mit.edu 37 11 65308712 65308713 + Frame_Shift_Del DEL TG TG - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:65308712_65308713delTG uc001oej.2 - 20 3046_3047 c.2777_2778delCA c.(2776-2778)ACAfs p.T926fs LTBP3_uc001oef.2_5'UTR|LTBP3_uc001oeg.2_5'UTR|LTBP3_uc001oeh.2_Frame_Shift_Del_p.T356fs|LTBP3_uc010roi.1_Frame_Shift_Del_p.T809fs|LTBP3_uc001oei.2_Frame_Shift_Del_p.T926fs|LTBP3_uc010roj.1_Frame_Shift_Del_p.T627fs|LTBP3_uc010rok.1_Frame_Shift_Del_p.T837fs NM_001130144 NP_001123616 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding 926 TB 3. extracellular region calcium ion binding|growth factor binding central_nervous_system(2)|lung(1) 3 CGCAGAACACTGTGTCATCGAA 0.634 NA OREG0021080 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 86 --- --- --- --- NA NA NA NA NA C11orf80 79703 broad.mit.edu 37 11 66583618 66583619 + Frame_Shift_Del DEL TC TC - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 TC TC - - TC TC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:66583618_66583619delTC uc001ojf.2 + 11 1291_1292 c.1284_1285delTC c.(1282-1287)TTTCTCfs p.F428fs C11orf80_uc001ojg.2_Frame_Shift_Del_p.F195fs|C11orf80_uc001ojh.2_Frame_Shift_Del_p.F196fs|C11orf80_uc001oji.2_Frame_Shift_Del_p.F196fs|C11orf80_uc010rpl.1_Frame_Shift_Del_p.F63fs|C11orf80_uc001ojj.2_Frame_Shift_Del_p.F63fs NM_024650 NP_078926 Q8N6T0 CK080_HUMAN hypothetical protein LOC79703 273_274 0 TGCTGCTTTTTCTCTTTGTGGA 0.465 NA 13 12 --- --- --- --- NA NA NA NA NA NUMA1 4926 broad.mit.edu 37 11 71717101 71717107 + Frame_Shift_Del DEL ACCCCGG ACCCCGG - rs61745941 byFrequency TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 ACCCCGG ACCCCGG - - ACCCCGG ACCCCGG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:71717101_71717107delACCCCGG uc001orl.1 - 22 5838_5844 c.5666_5672delCCGGGGT c.(5665-5673)GCCGGGGTGfs p.A1889fs NUMA1_uc001orj.2_Frame_Shift_Del_p.A71fs|NUMA1_uc009ysw.1_Frame_Shift_Del_p.A1456fs|NUMA1_uc001ork.1_Frame_Shift_Del_p.A753fs|NUMA1_uc001orm.1_Frame_Shift_Del_p.A1875fs NM_006185 NP_006176 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 1889_1891 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity ovary(3)|lung(2)|skin(2)|central_nervous_system(1) 8 CCCACTGGACACCCCGGCCTGGGAACG 0.589 NA T RARA APL 45 68 --- --- --- --- NA NA NA NA NA CREBZF 58487 broad.mit.edu 37 11 85375242 85375244 + In_Frame_Del DEL CTT CTT - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 CTT CTT - - CTT CTT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:85375242_85375244delCTT uc001pas.2 - 1 939_941 c.676_678delAAG c.(676-678)AAGdel p.K226del CREBZF_uc010rtc.1_RNA|CREBZF_uc010rtd.1_RNA NM_001039618 NP_001034707 Q9NS37 ZHANG_HUMAN HCF-binding transcription factor Zhangfei 226 Basic motif. negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) TCACGTACTCCTTCTTCTTCAGT 0.384 NSCLC(172;674 2044 9050 18334 41735) NA OREG0021274 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 45 163 --- --- --- --- NA NA NA NA NA NCAM1 4684 broad.mit.edu 37 11 113102898 113102899 + Frame_Shift_Ins INS - - A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr11:113102898_113102899insA uc009yyq.1 + 12 1665_1666 c.971_972insA c.(970-972)CCAfs p.P324fs NM_001076682 NP_001070150 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 isoform 3 416 Ig-like C2-type 5.|Extracellular (Potential). axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane ovary(1) 1 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) GCAGATGCCCCAAAGCTACAGG 0.525 NA 18 12 --- --- --- --- NA NA NA NA NA MIA2 117153 broad.mit.edu 37 14 39716860 39716860 + Frame_Shift_Del DEL A A - rs141053276 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr14:39716860delA uc001wux.2 + 4 1276 c.1082delA c.(1081-1083)GAAfs p.E361fs MIA2_uc010amy.1_Frame_Shift_Del_p.E292fs NM_054024 NP_473365 Q96PC5 MIA2_HUMAN melanoma inhibitory activity 2 361 extracellular region ovary(1)|breast(1) 2 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0216) ATATTAACAGAAAAAAAAGAC 0.348 NA 52 32 --- --- --- --- NA NA NA NA NA SPPL2A 84888 broad.mit.edu 37 15 51040893 51040894 + Frame_Shift_Del DEL TG TG - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:51040893_51040894delTG uc001zyv.2 - 3 531_532 c.351_352delCA c.(349-354)AACAGTfs p.N117fs NM_032802 NP_116191 Q8TCT8 PSL2_HUMAN signal peptide peptidase-like 2A 117_118 Cytoplasmic (Potential).|PA. integral to membrane aspartic-type endopeptidase activity 0 all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314) ACTAGGACACTGTTATTGACAA 0.371 Melanoma(50;790 1209 4069 22965 33125) NA 69 22 --- --- --- --- NA NA NA NA NA USP3 9960 broad.mit.edu 37 15 63862705 63862705 + Frame_Shift_Del DEL G G - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:63862705delG uc002amf.2 + 9 964 c.835delG c.(835-837)GGTfs p.G279fs USP3_uc010uii.1_RNA|USP3_uc002amg.2_Frame_Shift_Del_p.G194fs|USP3_uc002amh.2_Frame_Shift_Del_p.G257fs|USP3_uc010uij.1_Frame_Shift_Del_p.G235fs|USP3_uc010uik.1_Frame_Shift_Del_p.G30fs|USP3_uc010bgs.2_Frame_Shift_Del_p.G262fs|USP3_uc002ami.2_Frame_Shift_Del_p.G110fs NM_006537 NP_006528 Q9Y6I4 UBP3_HUMAN ubiquitin thiolesterase 3 279 DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process nuclear chromatin histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(1) 1 GBM - Glioblastoma multiforme(80;0.0187) ACTTCAGGGCGGTTTCAACGG 0.443 NA 37 46 --- --- --- --- NA NA NA NA NA IDH2 3418 broad.mit.edu 37 15 90631962 90631964 + In_Frame_Del DEL TCT TCT - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 TCT TCT - - TCT TCT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr15:90631962_90631964delTCT uc002box.2 - 4 475_477 c.389_391delAGA c.(388-393)AAGATG>ATG p.K130del IDH2_uc010uqb.1_In_Frame_Del_p.K78del|IDH2_uc010uqc.1_Translation_Start_Site|IDH2_uc010bnu.2_Intron NM_002168 NP_002159 P48735 IDHP_HUMAN isocitrate dehydrogenase 2 (NADP+), 130 2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding haematopoietic_and_lymphoid_tissue(621)|central_nervous_system(80)|bone(7)|skin(3) 711 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106) CTTTTCCACATCTTCTTCAGCTT 0.522 NA M GBM 15 56 --- --- --- --- NA NA NA NA NA CLDN6 9074 broad.mit.edu 37 16 3065398 3065399 + Frame_Shift_Del DEL GA GA - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 GA GA - - GA GA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:3065398_3065399delGA uc002csu.3 - 2 684_685 c.624_625delTC c.(622-627)TCTCGGfs p.S208fs NM_021195 NP_067018 P56747 CLD6_HUMAN claudin 6 208_209 Cytoplasmic (Potential). calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity 0 GAGGGCCCCCGAGAGATGGCAG 0.644 NA 24 81 --- --- --- --- NA NA NA NA NA CCDC64B 146439 broad.mit.edu 37 16 3080710 3080711 + Frame_Shift_Del DEL CT CT - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 CT CT - - CT CT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:3080710_3080711delCT uc002ctf.3 - 3 646_647 c.601_602delAG c.(601-603)AGTfs p.S201fs CCDC64B_uc002cte.3_5'UTR|CCDC64B_uc010bta.1_3'UTR NM_001103175 NP_001096645 A1A5D9 BICR2_HUMAN coiled-coil domain containing 64B 201 Potential. 0 CCCCTGCAGACTCTCCAGCCGC 0.644 NA 5 8 --- --- --- --- NA NA NA NA NA COQ7 10229 broad.mit.edu 37 16 19079004 19079004 + Frame_Shift_Del DEL G G - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:19079004delG uc002dfr.2 + 1 78 c.18delG c.(16-18)GCGfs p.A6fs COQ7_uc002dfs.2_5'Flank NM_016138 NP_057222 Q99807 COQ7_HUMAN COQ7 protein 6 Poly-Ala. ubiquinone biosynthetic process mitochondrial inner membrane|nucleus oxidoreductase activity|transition metal ion binding skin(1) 1 gcgccggggcggcggcggctc 0.398 NA 8 12 --- --- --- --- NA NA NA NA NA CDH11 1009 broad.mit.edu 37 16 65015995 65015995 + Frame_Shift_Del DEL C C - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:65015995delC uc002eoi.2 - 8 1643 c.1209delG c.(1207-1209)GGGfs p.G403fs CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Frame_Shift_Del_p.G403fs|CDH11_uc010vin.1_Frame_Shift_Del_p.G277fs|CDH11_uc002eok.1_RNA NM_001797 NP_001788 P55287 CAD11_HUMAN cadherin 11, type 2 preproprotein 403 Cadherin 4.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding lung(10)|ovary(3)|skin(1) 14 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) CATGCACTCTCCCAACCACGG 0.488 NA T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 27 27 --- --- --- --- NA NA NA NA NA FTSJD1 55783 broad.mit.edu 37 16 71319263 71319263 + Frame_Shift_Del DEL A A - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr16:71319263delA uc010cga.2 - 3 967 c.561delT c.(559-561)ATTfs p.I187fs FTSJD1_uc002ezy.3_Frame_Shift_Del_p.I187fs|FTSJD1_uc002ezz.3_Frame_Shift_Del_p.I187fs NM_001099642 NP_001093112 Q8IYT2 FTSJ1_HUMAN FtsJ methyltransferase domain containing 1 187 integral to membrane methyltransferase activity|nucleic acid binding skin(1) 1 GGTCATCCATAATCATCATGA 0.428 NA 29 8 --- --- --- --- NA NA NA NA NA KCNJ2 3759 broad.mit.edu 37 17 68171564 68171564 + Frame_Shift_Del DEL C C - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:68171564delC uc010dfg.2 + 2 785 c.384delC c.(382-384)AGCfs p.S128fs KCNJ2_uc002jir.2_Frame_Shift_Del_p.S128fs NM_000891 NP_000882 P63252 IRK2_HUMAN potassium inwardly-rectifying channel J2 128 Extracellular (By similarity). synaptic transmission integral to plasma membrane inward rectifier potassium channel activity|protein binding 0 Breast(10;1.64e-08) AGGTCAACAGCTTCACGGCTG 0.502 NA 60 76 --- --- --- --- NA NA NA NA NA SDK2 54549 broad.mit.edu 37 17 71394500 71394510 + Frame_Shift_Del DEL GCGGGCATCGG GCGGGCATCGG - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 GCGGGCATCGG GCGGGCATCGG - - GCGGGCATCGG GCGGGCATCGG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr17:71394500_71394510delGCGGGCATCGG uc010dfm.2 - 23 3152_3162 c.3152_3162delCCGATGCCCGC c.(3151-3162)CCCGATGCCCGCfs p.P1051fs SDK2_uc002jjt.3_Frame_Shift_Del_p.P210fs|SDK2_uc010dfn.2_Frame_Shift_Del_p.P730fs NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 1051_1054 Fibronectin type-III 5.|Extracellular (Potential). cell adhesion integral to membrane ovary(2) 2 CCTCCATGGAGCGGGCATCGGGCTCATTGGA 0.64 NA 9 71 --- --- --- --- NA NA NA NA NA AQP4 361 broad.mit.edu 37 18 24441125 24441125 + Frame_Shift_Del DEL T T - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr18:24441125delT uc002kwa.2 - 3 645 c.582delA c.(580-582)GGAfs p.G194fs AQP4_uc002kvz.2_Frame_Shift_Del_p.G172fs NM_001650 NP_001641 P55087 AQP4_HUMAN aquaporin 4 isoform a 194 Helical; (Potential). cellular response to interferon-gamma|excretion|nervous system development cytoplasm|external side of plasma membrane|integral to plasma membrane water channel activity 0 all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124) CAACAGAAAATCCAATTGCTA 0.383 NA 68 11 --- --- --- --- NA NA NA NA NA DSEL 92126 broad.mit.edu 37 18 65179594 65179594 + Frame_Shift_Del DEL C C - rs149331251 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr18:65179594delC uc002lke.1 - 2 3506 c.2282delG c.(2281-2283)GGCfs p.G761fs NM_032160 NP_115536 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 751 integral to membrane isomerase activity|sulfotransferase activity ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(42;0.129) TGCTTGAGTGCCCAAACCAAA 0.383 NA 25 3 --- --- --- --- NA NA NA NA NA ZNF562 54811 broad.mit.edu 37 19 9764212 9764213 + Frame_Shift_Del DEL AG AG - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 AG AG - - AG AG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:9764212_9764213delAG uc010xks.1 - 6 856_857 c.693_694delCT c.(691-696)CTCTGTfs p.L231fs ZNF562_uc002mly.2_Frame_Shift_Del_p.L231fs|ZNF562_uc002mlx.2_Frame_Shift_Del_p.L159fs|ZNF562_uc010xkt.1_Frame_Shift_Del_p.L194fs|ZNF562_uc010xku.1_Frame_Shift_Del_p.L162fs|ZNF562_uc010xkv.1_Frame_Shift_Del_p.L230fs|ZNF562_uc010xkw.1_Frame_Shift_Del_p.L115fs NM_001130032 NP_001123504 Q6V9R5 ZN562_HUMAN zinc finger protein 562 isoform a 231_232 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGAAATTCACAGAGTTTCTCTC 0.396 NA 40 12 --- --- --- --- NA NA NA NA NA PBX4 80714 broad.mit.edu 37 19 19672896 19672896 + Frame_Shift_Del DEL G G - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:19672896delG uc002nmy.2 - 8 1064 c.1063delC c.(1063-1065)CAAfs p.Q355fs PBX4_uc010xqz.1_RNA|PBX4_uc010xra.1_Frame_Shift_Del_p.Q190fs NM_025245 NP_079521 Q9BYU1 PBX4_HUMAN pre-B-cell leukemia homeobox 4 355 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1) 2 GTTGCAGGTTGGGGGGTGGCC 0.597 NA 8 7 --- --- --- --- NA NA NA NA NA PSG2 5670 broad.mit.edu 37 19 43576090 43576090 + Frame_Shift_Del DEL G G - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr19:43576090delG uc002ovr.2 - 4 819 c.726delC c.(724-726)CCCfs p.P242fs PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Frame_Shift_Del_p.P242fs|PSG2_uc010eiq.1_Frame_Shift_Del_p.P242fs|PSG2_uc002ovs.3_Frame_Shift_Del_p.P242fs|PSG2_uc002ovt.3_Frame_Shift_Del_p.P242fs NM_031246 NP_112536 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 242 Ig-like C2-type 2. cell migration|female pregnancy extracellular region 0 Prostate(69;0.00682) GGTGAATTCTGGGGAGGTCTG 0.493 NA 125 37 --- --- --- --- NA NA NA NA NA ITPRIPL1 150771 broad.mit.edu 37 2 96993095 96993095 + Frame_Shift_Del DEL C C - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:96993095delC uc002svx.2 + 3 1061 c.726delC c.(724-726)GTCfs p.V242fs ITPRIPL1_uc010yuk.1_Frame_Shift_Del_p.V234fs|ITPRIPL1_uc002svy.2_Frame_Shift_Del_p.V250fs|ITPRIPL1_uc010yul.1_Frame_Shift_Del_p.V234fs NM_001008949 NP_001008949 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-triphosphate receptor interacting 242 Cytoplasmic (Potential). integral to membrane central_nervous_system(2)|ovary(1) 3 TGCCCATTGTCCCCCCACAGG 0.587 NA 15 29 --- --- --- --- NA NA NA NA NA CCDC93 54520 broad.mit.edu 37 2 118704407 118704408 + Frame_Shift_Del DEL CT CT - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 CT CT - - CT CT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:118704407_118704408delCT uc002tlj.2 - 16 1401_1402 c.1275_1276delAG c.(1273-1278)AGAGCAfs p.R425fs CCDC93_uc010fld.1_Frame_Shift_Del_p.R425fs NM_019044 NP_061917 Q567U6 CCD93_HUMAN coiled-coil domain containing 93 425_426 Potential. large_intestine(1)|ovary(1) 2 CCACGTGGTGCTCTCTCAGCTT 0.406 NA 15 94 --- --- --- --- NA NA NA NA NA LRP1B 53353 broad.mit.edu 37 2 141298599 141298599 + Frame_Shift_Del DEL T T - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:141298599delT uc002tvj.1 - 45 8428 c.7456delA c.(7456-7458)AGAfs p.R2486fs NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2486 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CAATTCACTCTCCCATTGGGA 0.403 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 33 39 --- --- --- --- NA NA NA NA NA MYL1 4632 broad.mit.edu 37 2 211163245 211163271 + In_Frame_Del DEL GAATCACCTGTTCTGTCAAACAGGAGA GAATCACCTGTTCTGTCAAACAGGAGA - rs11554011 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 GAATCACCTGTTCTGTCAAACAGGAGA GAATCACCTGTTCTGTCAAACAGGAGA - - GAATCACCTGTTCTGTCAAACAGGAGA GAATCACCTGTTCTGTCAAACAGGAGA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:211163245_211163271delGAATCACCTGTTCTGTCAAACAGGAGA uc002vec.2 - 3 306_332 c.177_203delTCTCCTGTTTGACAGAACAGGTGATTC c.(175-204)TTTCTCCTGTTTGACAGAACAGGTGATTCC>TTC p.LLFDRTGDS60del MYL1_uc002veb.2_In_Frame_Del_p.LLFDRTGDS16del NM_079420 NP_524144 P05976 MYL1_HUMAN fast skeletal myosin alkali light chain 1 60_68 EF-hand 1. muscle filament sliding|muscle organ development cytosol|muscle myosin complex|sarcomere calcium ion binding|structural constituent of muscle ovary(1) 1 Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057) GGTGATCTTGGAATCACCTGTTCTGTCAAACAGGAGAAATGCCTCCT 0.427 NA 8 31 --- --- --- --- NA NA NA NA NA SLC11A1 6556 broad.mit.edu 37 2 219251925 219251927 + In_Frame_Del DEL CTT CTT - rs145226482 by1000genomes TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 CTT CTT - - CTT CTT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr2:219251925_219251927delCTT uc002vhv.2 + 6 883_885 c.543_545delCTT c.(541-546)ACCTTC>ACC p.F184del SLC11A1_uc010zkb.1_3'UTR|SLC11A1_uc010fvp.1_In_Frame_Del_p.F184del|SLC11A1_uc010fvq.1_In_Frame_Del_p.F117del|SLC11A1_uc010zkc.1_In_Frame_Del_p.F117del|SLC11A1_uc002vhu.1_5'UTR|SLC11A1_uc002vhw.2_In_Frame_Del_p.F66del|SLC11A1_uc010fvr.2_5'UTR NM_000578 NP_000569 P49279 NRAM1_HUMAN natural resistance-associated macrophage protein 184 Helical; (Potential). activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity ovary(3)|central_nervous_system(1) 4 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCGTGGACACCTTCTTCTTCCTC 0.552 NA 9 98 --- --- --- --- NA NA NA NA NA ADRM1 11047 broad.mit.edu 37 20 60881371 60881372 + In_Frame_Ins INS - - AGGCGG TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr20:60881371_60881372insAGGCGG uc002ycn.2 + 4 529_530 c.449_450insAGGCGG c.(448-450)CTA>CTAGGCGGA p.152_153insGG ADRM1_uc011aai.1_In_Frame_Ins_p.152_153insGG|ADRM1_uc002yco.2_In_Frame_Ins_p.152_153insGG|ADRM1_uc002ycp.1_RNA NM_007002 NP_008933 Q16186 ADRM1_HUMAN adhesion regulating molecule 1 precursor 152_153 Gly-rich. proteasome assembly|transcription elongation from RNA polymerase II promoter cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex endopeptidase activator activity|protease binding|proteasome binding 0 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;2.51e-06) CTCTCTGCGCTAGGCGGTAACT 0.599 NA 15 193 --- --- --- --- NA NA NA NA NA BCL2L13 23786 broad.mit.edu 37 22 18210074 18210076 + In_Frame_Del DEL AGA AGA - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 AGA AGA - - AGA AGA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr22:18210074_18210076delAGA uc002zmw.2 + 7 1450_1452 c.1232_1234delAGA c.(1231-1236)GAGAAG>GAG p.K412del BCL2L13_uc002zmx.2_In_Frame_Del_p.K250del|BCL2L13_uc002zmy.2_3'UTR|BCL2L13_uc010gqy.2_In_Frame_Del_p.K250del|BCL2L13_uc011agk.1_In_Frame_Del_p.K288del|BCL2L13_uc010gqz.2_In_Frame_Del_p.K132del|BCL2L13_uc002zmz.2_In_Frame_Del_p.K250del|BCL2L13_uc002zna.2_In_Frame_Del_p.K132del NM_015367 NP_056182 Q9BXK5 B2L13_HUMAN BCL2-like 13 (apoptosis facilitator) 412 Glu-rich. induction of apoptosis integral to membrane|mitochondrial membrane|nucleus caspase activator activity ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 all_epithelial(15;0.123) Lung(27;0.199) CTGCTGAGTGAGAAGGAGATAAA 0.557 NA 28 99 --- --- --- --- NA NA NA NA NA LRP5L 91355 broad.mit.edu 37 22 25753294 25753294 + Frame_Shift_Del DEL C C - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr22:25753294delC uc003abs.2 - 2 2831 c.366delG c.(364-366)TGGfs p.W122fs LRP5L_uc011ajz.1_Frame_Shift_Del_p.W122fs|LRP5L_uc010guw.1_Frame_Shift_Del_p.W122fs NM_182492 NP_872298 A4QPB2 LRP5L_HUMAN low density lipoprotein receptor-related protein 122 LDL-receptor class B 3. 0 GGCCGTTGGGCCACCCGAGGG 0.597 NA 106 15 --- --- --- --- NA NA NA NA NA SHANK3 85358 broad.mit.edu 37 22 51160242 51160242 + Frame_Shift_Del DEL C C - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr22:51160242delC uc003bne.1 + 22 4029 c.4029delC c.(4027-4029)GGCfs p.G1343fs SHANK3_uc003bnf.1_Frame_Shift_Del_p.G790fs|SHANK3_uc010hbg.1_Frame_Shift_Del_p.G525fs NM_001080420 NP_001073889 F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 1343 central_nervous_system(1) 1 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) CTGGCCCGGGCCCCTCGCCCA 0.701 NA 2 4 --- --- --- --- NA NA NA NA NA TNIK 23043 broad.mit.edu 37 3 170858288 170858289 + Frame_Shift_Del DEL CG CG - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr3:170858288_170858289delCG uc003fhh.2 - 13 1576_1577 c.1231_1232delCG c.(1231-1233)CGAfs p.R411fs TNIK_uc003fhi.2_Frame_Shift_Del_p.R411fs|TNIK_uc003fhj.2_Frame_Shift_Del_p.R411fs|TNIK_uc003fhk.2_Frame_Shift_Del_p.R411fs|TNIK_uc003fhl.2_Frame_Shift_Del_p.R411fs|TNIK_uc003fhm.2_Frame_Shift_Del_p.R411fs|TNIK_uc003fhn.2_Frame_Shift_Del_p.R411fs|TNIK_uc003fho.2_Frame_Shift_Del_p.R411fs NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 411 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) CTCCTTCTCTCGCCTTTGTTGC 0.624 NA 42 173 --- --- --- --- NA NA NA NA NA PPARGC1A 10891 broad.mit.edu 37 4 23815781 23815781 + Frame_Shift_Del DEL T T - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:23815781delT uc003gqs.2 - 8 1445 c.1325delA c.(1324-1326)AAGfs p.K442fs PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA NM_013261 NP_037393 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor 442 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding ovary(2)|lung(2)|kidney(2)|skin(2) 8 Breast(46;0.0503) AGAGACCTGCTTGCTTGCCTC 0.488 Esophageal Squamous(29;694 744 13796 34866 44181) NA 24 61 --- --- --- --- NA NA NA NA NA KCTD8 386617 broad.mit.edu 37 4 44177021 44177021 + Frame_Shift_Del DEL G G - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:44177021delG uc003gwu.2 - 2 1492 c.1208delC c.(1207-1209)CCAfs p.P403fs NM_198353 NP_938167 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerisation domain 403 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(2)|ovary(1) 3 TTTGTCTGGTGGGGGTATCCA 0.483 NA HNSCC(17;0.042) 65 220 --- --- --- --- NA NA NA NA NA EPHA5 2044 broad.mit.edu 37 4 66467899 66467899 + Frame_Shift_Del DEL A A - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:66467899delA uc003hcy.2 - 3 563 c.370delT c.(370-372)TCCfs p.S124fs EPHA5_uc003hcx.2_Frame_Shift_Del_p.S55fs|EPHA5_uc003hcz.2_Frame_Shift_Del_p.S124fs|EPHA5_uc011cah.1_Frame_Shift_Del_p.S124fs|EPHA5_uc011cai.1_Frame_Shift_Del_p.S124fs|EPHA5_uc003hda.2_Frame_Shift_Del_p.S124fs NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 124 Extracellular (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 AAGATTCTGGAAGCACCTTCA 0.423 NA TSP Lung(17;0.13) 34 46 --- --- --- --- NA NA NA NA NA C4orf17 84103 broad.mit.edu 37 4 100443707 100443707 + Frame_Shift_Del DEL G G - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:100443707delG uc003huw.2 + 3 501 c.178delG c.(178-180)GGAfs p.G60fs C4orf17_uc003hux.2_RNA NM_032149 NP_115525 Q53FE4 CD017_HUMAN hypothetical protein LOC84103 60 0 OV - Ovarian serous cystadenocarcinoma(123;2.08e-08) GAATGCATTTGGAACATTGTG 0.428 NA 23 35 --- --- --- --- NA NA NA NA NA FAT4 79633 broad.mit.edu 37 4 126372442 126372444 + In_Frame_Del DEL CCT CCT - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 CCT CCT - - CCT CCT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:126372442_126372444delCCT uc003ifj.3 + 9 10271_10273 c.10271_10273delCCT c.(10270-10275)ACCTTT>ATT p.3424_3425TF>I FAT4_uc011cgp.1_In_Frame_Del_p.1722_1723TF>I|FAT4_uc003ifi.1_In_Frame_Del_p.902_903TF>I NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 3424_3425 Cadherin 33.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 ACTCATGTGACCTTTGTCAGTGC 0.453 NA 24 66 --- --- --- --- NA NA NA NA NA POU4F2 5458 broad.mit.edu 37 4 147560457 147560458 + In_Frame_Ins INS - - GGC rs67907220 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr4:147560457_147560458insGGC uc003ikv.2 + 1 413_414 c.165_166insGGC c.(163-168)insGGC p.68_69insG NM_004575 NP_004566 Q12837 PO4F2_HUMAN Brn3b POU domain transcription factor 68_69 estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription breast(1) 1 all_hematologic(180;0.151) ACGCTggtggtggcggcggcgg 0.386 NA 5 7 --- --- --- --- NA NA NA NA NA LIFR 3977 broad.mit.edu 37 5 38502756 38502758 + In_Frame_Del DEL TGT TGT - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 TGT TGT - - TGT TGT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:38502756_38502758delTGT uc010ive.1 - 11 1913_1915 c.1581_1583delACA c.(1579-1584)CAACAT>CAT p.Q527del LIFR_uc003jli.2_In_Frame_Del_p.Q527del NM_001127671 NP_001121143 P42702 LIFR_HUMAN leukemia inhibitory factor receptor precursor 527 Extracellular (Potential).|Fibronectin type-III 3. positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity ovary(3)|large_intestine(1) 4 all_lung(31;0.00021) TGTTGTTAAATGTTGTTTTTTAT 0.31 Melanoma(13;4 730 6426 9861 34751) NA T PLAG1 salivary adenoma 33 75 --- --- --- --- NA NA NA NA NA PCDHB8 56128 broad.mit.edu 37 5 140558334 140558334 + Frame_Shift_Del DEL C C - rs138380475 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr5:140558334delC uc011dai.1 + 1 905 c.719delC c.(718-720)GCCfs p.A240fs PCDHB16_uc003liv.2_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 240 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AATGATAATGCCCCTGAATTT 0.507 NA 83 237 --- --- --- --- NA NA NA NA NA TAAR9 134860 broad.mit.edu 37 6 132859668 132859668 + Frame_Shift_Del DEL G G - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:132859668delG uc011eci.1 + 2 242 c.240delG c.(238-240)TTGfs p.L80fs NM_175057 NP_778227 Q96RI9 TAAR9_HUMAN trace amine associated receptor 9 80 Helical; Name=2; (Potential). plasma membrane G-protein coupled receptor activity 0 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816) CTGACTTCTTGGTGGGAGTCA 0.463 Colon(10;433 445 15992 45047 47213) NA 24 57 --- --- --- --- NA NA NA NA NA LATS1 9113 broad.mit.edu 37 6 150005349 150005349 + Frame_Shift_Del DEL T T - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr6:150005349delT uc003qmu.1 - 4 1424 c.876delA c.(874-876)CCAfs p.P292fs LATS1_uc010kif.1_Frame_Shift_Del_p.P187fs|LATS1_uc003qmv.1_Frame_Shift_Del_p.P292fs|LATS1_uc003qmw.2_Frame_Shift_Del_p.P292fs|LATS1_uc010kig.1_Frame_Shift_Del_p.P187fs NM_004690 NP_004681 O95835 LATS1_HUMAN LATS homolog 1 292 cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) ATGCCCCAGGTGGGACAGGAG 0.507 NA 73 17 --- --- --- --- NA NA NA NA NA DGKB 1607 broad.mit.edu 37 7 14880840 14880840 + Frame_Shift_Del DEL G G - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:14880840delG uc003ssz.2 - 1 236 c.49delC c.(49-51)CAAfs p.Q17fs DGKB_uc011jxt.1_Frame_Shift_Del_p.Q17fs|DGKB_uc003sta.2_Frame_Shift_Del_p.Q17fs|DGKB_uc011jxu.1_Frame_Shift_Del_p.Q17fs|DGKB_uc011jxv.1_Frame_Shift_Del_p.Q17fs NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta isoform 1 17 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding lung(5)|ovary(4)|breast(2)|skin(1) 12 Phosphatidylserine(DB00144) TTCTGAAGTTGGGAAAATTCC 0.368 NA 16 16 --- --- --- --- NA NA NA NA NA ADCYAP1R1 117 broad.mit.edu 37 7 31117644 31117644 + Frame_Shift_Del DEL C C - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:31117644delC uc003tca.1 + 4 419 c.196delC c.(196-198)CCCfs p.P66fs ADCYAP1R1_uc003tcb.1_Frame_Shift_Del_p.P66fs|ADCYAP1R1_uc003tcc.1_Frame_Shift_Del_p.P66fs|ADCYAP1R1_uc003tcd.1_Frame_Shift_Del_p.P66fs|ADCYAP1R1_uc003tce.1_Frame_Shift_Del_p.P66fs NM_001118 NP_001109 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 66 Extracellular (Potential). activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity ovary(1) 1 GTGTTGGAAGCCCGCCCATGT 0.512 Ovarian(44;225 1186 2158 11092) NA 18 91 --- --- --- --- NA NA NA NA NA CCDC129 223075 broad.mit.edu 37 7 31692358 31692360 + In_Frame_Del DEL CTT CTT - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 CTT CTT - - CTT CTT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:31692358_31692360delCTT uc003tcj.1 + 14 4043_4045 c.3050_3052delCTT c.(3049-3054)CCTTCA>CCA p.S1020del CCDC129_uc011kad.1_In_Frame_Del_p.S1030del|CCDC129_uc003tci.1_In_Frame_Del_p.S871del|CCDC129_uc011kae.1_Intron|CCDC129_uc003tck.1_In_Frame_Del_p.S928del NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 1020 0 AGGATGTCTCCTTCATCATCAGC 0.522 NA 22 96 --- --- --- --- NA NA NA NA NA TNS3 64759 broad.mit.edu 37 7 47407966 47407966 + Frame_Shift_Del DEL C C - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:47407966delC uc003tnv.2 - 17 2644 c.2277delG c.(2275-2277)CGGfs p.R759fs TNS3_uc003tnw.2_Frame_Shift_Del_p.R759fs NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN tensin 3 759 focal adhesion protein binding ovary(4) 4 GCTCACCTTGCCGCCCGGTGG 0.632 NA 55 301 --- --- --- --- NA NA NA NA NA IQUB 154865 broad.mit.edu 37 7 123109440 123109440 + Splice_Site DEL T T - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:123109440delT uc003vkn.2 - 9 1988 c.1411_splice c.e9-1 p.C471_splice IQUB_uc003vko.2_Splice_Site_p.C471_splice|IQUB_uc010lkt.2_Splice_Site|IQUB_uc003vkp.1_Splice_Site_p.C471_splice NM_178827 NP_849149 Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing ovary(3)|large_intestine(1) 4 AGCTGAACACttaaaaataat 0.313 NA 21 6 --- --- --- --- NA NA NA NA NA REPIN1 29803 broad.mit.edu 37 7 150069438 150069439 + Frame_Shift_Ins INS - - C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr7:150069438_150069439insC uc010lpq.1 + 4 1597_1598 c.1108_1109insC c.(1108-1110)GCCfs p.A370fs REPIN1_uc003whd.2_Frame_Shift_Ins_p.A359fs|REPIN1_uc010lpr.1_Frame_Shift_Ins_p.A427fs|REPIN1_uc003whc.2_Frame_Shift_Ins_p.A370fs|REPIN1_uc003whe.2_Frame_Shift_Ins_p.A370fs NM_013400 NP_037532 Q9BWE0 REPI1_HUMAN replication initiator 1 isoform 1 370 Pro-rich. DNA replication nuclear origin of replication recognition complex DNA binding|zinc ion binding pancreas(1) 1 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.011) CCCGATCGAAGCCCCCCCCTCC 0.752 NA 2 4 --- --- --- --- NA NA NA NA NA NBN 4683 broad.mit.edu 37 8 90965709 90965709 + Frame_Shift_Del DEL G G - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:90965709delG uc003yej.1 - 11 1718 c.1608delC c.(1606-1608)GCCfs p.A536fs NBN_uc003yei.1_Frame_Shift_Del_p.A454fs|NBN_uc011lgb.1_Frame_Shift_Del_p.A536fs NM_002485 NP_002476 O60934 NBN_HUMAN nibrin 536 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm protein N-terminus binding|transcription factor binding central_nervous_system(3)|kidney(3)|lung(1) 7 BRCA - Breast invasive adenocarcinoma(11;0.0344) GAGATTTACTGGCAGAATTTT 0.348 NA Direct_reversal_of_damage|Homologous_recombination Nijmegen_Breakage_syndrome 21 46 --- --- --- --- NA NA NA NA NA ESRP1 54845 broad.mit.edu 37 8 95653626 95653628 + In_Frame_Del DEL AGA AGA - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 AGA AGA - - AGA AGA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:95653626_95653628delAGA uc003ygq.3 + 1 263_265 c.80_82delAGA c.(79-84)GAGAAG>GAG p.K28del ESRP1_uc003ygr.3_In_Frame_Del_p.K28del|ESRP1_uc003ygs.3_In_Frame_Del_p.K28del|ESRP1_uc003ygt.3_In_Frame_Del_p.K28del|ESRP1_uc003ygu.3_In_Frame_Del_p.K28del NM_017697 NP_060167 Q6NXG1 ESRP1_HUMAN RNA binding motif protein 35A isoform 1 28 mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) prostate(4) 4 GGCTCGGATGAGAAGGAGTTGAT 0.532 NA 20 46 --- --- --- --- NA NA NA NA NA EPPK1 83481 broad.mit.edu 37 8 144945106 144945106 + Frame_Shift_Del DEL C C - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:144945106delC uc003zaa.1 - 1 2329 c.2316delG c.(2314-2316)ACGfs p.T772fs NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 772 Plectin 15. cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GGTTCTCGTGCGTGTTGGGGT 0.627 NA 34 56 --- --- --- --- NA NA NA NA NA ZNF251 90987 broad.mit.edu 37 8 145947348 145947358 + Frame_Shift_Del DEL AAGGATTTCTC AAGGATTTCTC - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 AAGGATTTCTC AAGGATTTCTC - - AAGGATTTCTC AAGGATTTCTC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr8:145947348_145947358delAAGGATTTCTC uc003zdv.3 - 5 1943_1953 c.1687_1697delGAGAAATCCTT c.(1687-1698)GAGAAATCCTTTfs p.E563fs NM_138367 NP_612376 Q9BRH9 ZN251_HUMAN zinc finger protein 251 563_566 C2H2-type 12; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) ATTACATCCAAAGGATTTCTCACCAGTGTGA 0.469 NA 27 46 --- --- --- --- NA NA NA NA NA PTPRD 5789 broad.mit.edu 37 9 8528692 8528692 + Frame_Shift_Del DEL C C - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:8528692delC uc003zkk.2 - 14 1151 c.440delG c.(439-441)TGTfs p.C147fs PTPRD_uc003zkp.2_Frame_Shift_Del_p.C147fs|PTPRD_uc003zkq.2_Frame_Shift_Del_p.C147fs|PTPRD_uc003zkr.2_Frame_Shift_Del_p.C147fs|PTPRD_uc003zks.2_Frame_Shift_Del_p.C147fs|PTPRD_uc003zkl.2_Frame_Shift_Del_p.C147fs|PTPRD_uc003zkm.2_Frame_Shift_Del_p.C147fs|PTPRD_uc003zkn.2_Frame_Shift_Del_p.C147fs|PTPRD_uc003zko.2_Frame_Shift_Del_p.C147fs|PTPRD_uc003zkt.1_Frame_Shift_Del_p.C147fs NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 147 Extracellular (Potential).|Ig-like C2-type 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) ACTGGCTGCACAAAGCATGGT 0.473 NA TSP Lung(15;0.13) 40 16 --- --- --- --- NA NA NA NA NA RECK 8434 broad.mit.edu 37 9 36087832 36087833 + Frame_Shift_Del DEL TT TT - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 TT TT - - TT TT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:36087832_36087833delTT uc003zyv.2 + 9 865_866 c.779_780delTT c.(778-780)CTTfs p.L260fs RECK_uc003zyw.2_Frame_Shift_Del_p.L132fs|RECK_uc003zyx.2_RNA NM_021111 NP_066934 O95980 RECK_HUMAN RECK protein precursor 260 Knot 4.|5 X Knot repeats. anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity p.L260F(1) skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) CAAGATCCTCTTTGGCAATGTT 0.475 NA 15 46 --- --- --- --- NA NA NA NA NA ZBTB5 9925 broad.mit.edu 37 9 37440624 37440625 + Frame_Shift_Ins INS - - CTTA rs11558453 TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:37440624_37440625insCTTA uc003zzx.2 - 2 2124_2125 c.1924_1925insTAAG c.(1924-1926)GCCfs p.A642fs NM_014872 NP_055687 O15062 ZBTB5_HUMAN zinc finger and BTB domain containing 5 642 C2H2-type 2; atypical. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226) CTTCAGGCAGGCGTAAGGCTTT 0.505 NA 27 51 --- --- --- --- NA NA NA NA NA ZNF484 83744 broad.mit.edu 37 9 95608548 95608548 + Frame_Shift_Del DEL C C - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chr9:95608548delC uc004asu.1 - 5 2670 c.2521delG c.(2521-2523)GACfs p.D841fs ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Frame_Shift_Del_p.D843fs|ZNF484_uc010mrb.1_Frame_Shift_Del_p.D805fs|ZNF484_uc004asv.1_Frame_Shift_Del_p.D805fs NM_031486 NP_113674 Q5JVG2 ZN484_HUMAN zinc finger protein 484 isoform a 841 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CCTTCTGAGTCCCCACACCAT 0.438 NA 88 24 --- --- --- --- NA NA NA NA NA SRPX 8406 broad.mit.edu 37 X 38016264 38016264 + Frame_Shift_Del DEL C C - TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:38016264delC uc004ddy.1 - 8 1060 c.974delG c.(973-975)GGTfs p.G325fs SRPX_uc004ddz.1_Frame_Shift_Del_p.G305fs|SRPX_uc011mkh.1_Frame_Shift_Del_p.G266fs|SRPX_uc011mki.1_Frame_Shift_Del_p.G325fs NM_006307 NP_006298 P78539 SRPX_HUMAN sushi-repeat-containing protein, X-linked 325 cell adhesion cell surface|membrane 0 CGTTCTGACACCCACATTGAC 0.498 NA 30 17 --- --- --- --- NA NA NA NA NA TGIF2LX 90316 broad.mit.edu 37 X 89177718 89177718 + Frame_Shift_Del DEL G G - rs149582592 byFrequency TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq cf7882fa-4343-4c32-8940-2fc85cfb4c6e 14233f2d-dd7b-4330-a079-0f7158397e28 g.chrX:89177718delG uc004efe.2 + 2 683 c.634delG c.(634-636)GCCfs p.A212fs NM_138960 NP_620410 Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 212 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 AGAGGAGCACGCCGACTTCAG 0.532 NA 10 7 --- --- --- --- NA NA NA NA NA