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 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_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut ONECUT2 9480 broad.mit.edu 37 18 55103683 55103683 + Silent SNP T T C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr18:55103683T>C ENST00000491143.2 + 1 767 c.735T>C c.(733-735)agT>agC p.S245S NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 245 organ morphogenesis nucleus sequence-specific DNA binding p.S245S(1) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) CGCAGCAGAGTCTGCCCAACT 0.677000 9 54 0 0 0.013537 0 0 UTP6 55813 broad.mit.edu 37 17 30207635 30207635 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr17:30207635C>A ENST00000261708.4 - 11 1061 c.924G>T c.(922-924)agG>agT p.R308S CTC-542B22.2_ENST00000583236.1_lincRNA NM_018428.2 NP_060898.2 Q9NYH9 UTP6_HUMAN UTP6, small subunit (SSU) processome component, homolog (yeast) 308 rRNA processing nucleolus binding p.R308S(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1) 21 all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231) CAGCACAGCACCTCTCCTCCT 0.478000 53 231 1.33661e-31 2.49587e-31 0.014410 1 0 SPTA1 6708 broad.mit.edu 37 1 158609396 158609396 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:158609396C>A ENST00000368148.3 - 35 5136 c.4956G>T c.(4954-4956)ttG>ttT p.L1652F SPTA1_ENST00000368147.3_Missense_Mutation_p.L1652F NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1652 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 p.L1652F(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCTCTCTCTCCAATAGCTGAT 0.483000 18 139 1.96895e-08 2.64205e-08 0.016522 1 0 MICAL3 57553 broad.mit.edu 37 22 18301586 18301586 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr22:18301586G>A ENST00000441493.2 - 26 4193 c.3841C>T c.(3841-3843)Cgc>Tgc p.R1281C NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1281 Pro-rich. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding p.R1281C(1) large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) GGCTGGAAGCGTATGGGGGAC 0.672000 15 100 0 0 0.004007 0 0 MUC17 140453 broad.mit.edu 37 7 100685523 100685523 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr7:100685523C>A ENST00000306151.4 + 3 10890 c.10826C>A c.(10825-10827)aCt>aAt p.T3609N NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3609 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.T3609N(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CCTGTGACCACTTCTACTCAG 0.463000 23 189 1.04121e-07 1.35923e-07 0.005443 1 0 ASMT 438 broad.mit.edu 37 X 1755382 1755382 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:1755382G>T ENST00000381241.3 + 8 1038 c.839G>T c.(838-840)aGg>aTg p.R280M ASMT_ENST00000381229.4_Missense_Mutation_p.R252M|ASMT_ENST00000381233.3_Missense_Mutation_p.R205M NM_001171038.1|NM_004043.2 NP_001164509.1|NP_004034.2 P46597 HIOM_HUMAN acetylserotonin O-methyltransferase 252 melatonin biosynthetic process|translation cytosol acetylserotonin O-methyltransferase activity|S-methyltransferase activity p.R280M(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 16 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) ATCCTGGCCAGGGTCCTCCAT 0.552000 69 255 5.43229e-20 9.41271e-20 0.014410 1 0 A4GNT 51146 broad.mit.edu 37 3 137843529 137843529 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr3:137843529G>T ENST00000236709.3 - 3 801 c.600C>A c.(598-600)caC>caA p.H200Q NM_016161.2 NP_057245.1 Q9UNA3 A4GCT_HUMAN alpha-1,4-N-acetylglucosaminyltransferase 200 protein O-linked glycosylation Golgi membrane|Golgi stack|integral to membrane|membrane fraction acetylglucosaminyltransferase activity|galactosyltransferase activity p.H200Q(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7) 16 AAAAGGGGTGGTGGGGGAGGA 0.493000 18 162 1.67942e-08 2.26407e-08 0.006122 1 0 CXorf66 347487 broad.mit.edu 37 X 139038299 139038299 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:139038299G>T ENST00000370540.1 - 3 865 c.842C>A c.(841-843)cCt>cAt p.P281H NM_001013403.2 NP_001013421.1 Q5JRM2 CX066_HUMAN chromosome X open reading frame 66 281 integral to membrane p.P281H(1) breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1) 26 ATTGACCAAAGGCCTATAAGT 0.398000 18 219 3.52763e-06 4.32154e-06 0.004990 1 0 PCDHB10 56126 broad.mit.edu 37 5 140573608 140573608 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr5:140573608G>T ENST00000239446.4 + 1 1667 c.1483G>T c.(1483-1485)Gac>Tac p.D495Y NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 495 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.D495Y(1) breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCGCCCCAAGACCCGCACCT 0.672000 13 185 6.31663e-08 8.28339e-08 0.003163 1 0 ACE 1636 broad.mit.edu 37 17 61568578 61568578 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr17:61568578G>T ENST00000577647.1 + 8 1071 c.1026G>T c.(1024-1026)acG>acT p.T342T ACE_ENST00000290866.4_Silent_p.T916T|ACE_ENST00000290863.6_Silent_p.T342T|ACE_ENST00000413513.3_Silent_p.T342T|ACE_ENST00000490216.2_Silent_p.T342T|ACE_ENST00000421982.2_Silent_p.T162T|ACE_ENST00000428043.1_Silent_p.T916T P12821 ACE_HUMAN angiotensin I converting enzyme 916 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding p.T916T(1)|p.T342T(1) autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) AGGGCTGGACGCCCAGGAGGA 0.617000 16 54 0.006122 0.00651734 0.006122 1 0 PMFBP1 83449 broad.mit.edu 37 16 72188209 72188209 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr16:72188209C>A ENST00000537465.1 - 4 473 c.315G>T c.(313-315)caG>caT p.Q105H PMFBP1_ENST00000237353.10_Missense_Mutation_p.Q105H|PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000543746.1_5'UTR Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 105 p.Q105H(1) NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) AGTAAGAAGTCTGCAACTCCT 0.458000 40 182 4.32679e-17 7.32129e-17 0.006999 1 0 KCNH7 90134 broad.mit.edu 37 2 163230172 163230172 + Splice_Site SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr2:163230172C>A ENST00000332142.5 - 15 3231 c.3131_splice c.e15-1 p.R1044_splice NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 1044 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity p.R1044S(1) NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) GGGATTCAAGCCTACAGAACA 0.423000 7 44 5.18039e-06 6.30609e-06 0.003080 1 0 LRRC6 23639 broad.mit.edu 37 8 133673705 133673705 + Splice_Site SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr8:133673705C>A ENST00000519595.1 - 2 277 c.e2+1 LRRC6_ENST00000250173.1_Splice_Site|LRRC6_ENST00000520446.1_Splice_Site|LRRC6_ENST00000518642.1_Splice_Site Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 cytoplasm p.?(1) breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2) 34 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CTGAAACTTACCAATTTTCCC 0.318000 9 37 2.52707e-12 3.96228e-12 0.006214 1 0 RGAG4 340526 broad.mit.edu 37 X 71350872 71350872 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:71350872G>A ENST00000545866.1 - 1 886 c.519C>T c.(517-519)ttC>ttT p.F173F NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Silent_p.F173F Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 173 p.F246F(1) cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1) 24 Renal(35;0.156) GGTCGGCTATGAAGGTCTCTA 0.602000 11 40 0 0 0.013537 0 0 MICAL3 57553 broad.mit.edu 37 22 18300618 18300618 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr22:18300618G>A ENST00000441493.2 - 26 5161 c.4809C>T c.(4807-4809)tcC>tcT p.S1603S NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1603 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding p.S1603S(1) large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) GGCTCTTCACGGACTTCTCCC 0.692000 6 25 0 0 0.001984 0 0 HK3 3101 broad.mit.edu 37 5 176308746 176308746 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr5:176308746C>T ENST00000292432.5 - 17 2431 c.2340G>A c.(2338-2340)caG>caA p.Q780Q NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 780 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity p.Q780Q(2) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 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) TCTGAAGGCGCTGGATCTGCT 0.542000 33 171 0 0 0.015359 0 0 CXorf56 63932 broad.mit.edu 37 X 118673720 118673720 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:118673720C>A ENST00000320339.4 - 7 763 c.492G>T c.(490-492)aaG>aaT p.K164N CXorf56_ENST00000476164.1_Missense_Mutation_p.K213N|CXorf56_ENST00000371594.4_Missense_Mutation_p.K213N|CXorf56_ENST00000536133.1_Missense_Mutation_p.K199N|CXorf56_ENST00000486230.1_Missense_Mutation_p.K213N|CXorf56_ENST00000469448.1_5'UTR NM_001170569.1 NP_001164040.1 Q9H5V9 CX056_HUMAN chromosome X open reading frame 56 213 protein binding p.K213N(1) cervix(1)|endometrium(2)|lung(7) 10 TCAAGGTCCCCTTCATTTTCG 0.368000 7 57 0.00307968 0.00331525 0.003080 1 0 COL6A2 1292 broad.mit.edu 37 21 47542060 47542060 + Silent SNP C C T rs112197239 byFrequency TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr21:47542060C>T ENST00000300527.4 + 19 1664 c.1560C>T c.(1558-1560)ccC>ccT p.P520P COL6A2_ENST00000310645.5_Silent_p.P520P|COL6A2_ENST00000397763.1_Silent_p.P520P|COL6A2_ENST00000357838.4_Silent_p.P520P|COL6A2_ENST00000409416.1_Silent_p.P520P NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 520 Triple-helical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) ACCCAGGACCCCGAGGAGCAC 0.642000 3 35 0 0 0.004672 0 0 NDST4 64579 broad.mit.edu 37 4 115997479 115997479 + Silent SNP T T C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr4:115997479T>C ENST00000264363.2 - 2 1392 c.714A>G c.(712-714)ttA>ttG p.L238L NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 238 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity p.L238L(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) TTTCTGTCTGTAACTCAGTTA 0.438000 24 132 0 0 0.004656 0 0 STK10 6793 broad.mit.edu 37 5 171479999 171479999 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr5:171479999C>A ENST00000176763.5 - 18 3043 c.2700G>T c.(2698-2700)aaG>aaT p.K900N NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 900 ATP binding|protein serine/threonine kinase activity p.K900N(1) breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CATCCAGGGCCTTCAGTTTCT 0.542000 17 66 3.62473e-10 5.13875e-10 0.012319 1 0 VCPKMT 79609 broad.mit.edu 37 14 50583010 50583010 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr14:50583010G>A ENST00000395860.2 - 1 265 c.261C>T c.(259-261)acC>acT p.T87T METTL21D_ENST00000395859.2_Silent_p.T87T NM_024558.2 NP_078834.2 Q9H867 MT21D_HUMAN 87 methyltransferase activity p.T87T(1) kidney(1)|lung(1)|urinary_tract(1) 3 CTTACCCGAGGGTAGCAGCCA 0.687000 3 8 0 0 0.004672 0 0 PARP4 143 broad.mit.edu 37 13 25029154 25029154 + Splice_Site SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr13:25029154C>A ENST00000381989.3 - 22 2864 c.e22+1 NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity p.?(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) AGCGCACTCACCTGTGCCGAA 0.532000 26 206 6.07407e-21 1.06852e-20 0.007291 1 0 PRPS1 5631 broad.mit.edu 37 X 106882646 106882646 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:106882646G>A ENST00000372435.4 + 2 366 c.244G>A c.(244-246)Gcc>Acc p.A82T PRPS1_ENST00000372428.4_Missense_Mutation_p.A15T|PRPS1_ENST00000372418.1_Missense_Mutation_p.A15T|PRPS1_ENST00000372419.3_Missense_Mutation_p.A82T|PRPS1_ENST00000543248.1_Missense_Mutation_p.A82T NM_002764.3 NP_002755.1 P60891 PRPS1_HUMAN phosphoribosyl pyrophosphate synthetase 1 82 5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process cytosol ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity p.A82T(1) breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1) 23 GATTGCTTCAGCCAGCCGGGT 0.443000 39 315 0 0 0.009718 0 0 DRD2 1813 broad.mit.edu 37 11 113285168 113285168 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr11:113285168G>T ENST00000362072.3 - 6 1083 c.739C>A c.(739-741)Ccc>Acc p.P247T DRD2_ENST00000542968.1_Missense_Mutation_p.P247T|DRD2_ENST00000538967.1_Missense_Mutation_p.P247T|DRD2_ENST00000355319.2_Missense_Mutation_p.P247T|DRD2_ENST00000346454.3_Intron|DRD2_ENST00000544518.1_Missense_Mutation_p.P246T|DRD2_ENST00000535984.1_5'UTR NM_000795.3 NP_000786.1 P14416 DRD2_HUMAN dopamine receptor D2 247 Interaction with PPP1R9B (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding p.P247N(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) ATGTCCTCGGGGTGAGTACAG 0.562000 42 208 9.14704e-12 1.38526e-11 0.008740 1 0 LRRC6 23639 broad.mit.edu 37 8 133673706 133673706 + Splice_Site SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr8:133673706C>T ENST00000519595.1 - 2 276 c.178_splice c.e2+1 p.E60_splice LRRC6_ENST00000250173.1_Splice_Site_p.E60_splice|LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000518642.1_Splice_Site_p.E60_splice Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 60 cytoplasm p.?(1) breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2) 34 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TGAAACTTACCAATTTTCCCA 0.323000 9 36 0 0 0.006214 0 0 OR56A3 390083 broad.mit.edu 37 11 5969145 5969145 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr11:5969145G>T ENST00000329564.6 + 1 576 c.569G>T c.(568-570)aGa>aTa p.R190I NM_001003443.2 NP_001003443.2 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, member 3 190 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R190I(1) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTGTTTCCAGACTCTCCTGC 0.473000 17 130 2.48551e-13 3.93994e-13 0.004990 1 0 FCRL3 115352 broad.mit.edu 37 1 157650837 157650837 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:157650837C>G ENST00000368184.3 - 12 2182 c.1891G>C c.(1891-1893)Gac>Cac p.D631H FCRL3_ENST00000368186.5_Missense_Mutation_p.D631H|FCRL3_ENST00000473231.1_5'UTR NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 631 integral to membrane|plasma membrane receptor activity p.D631H(1) autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) TCTTGAGGGTCTATCCTGGAA 0.537000 5 56 0 0 0.014758 0 0 SPEF2 79925 broad.mit.edu 37 5 35659145 35659145 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr5:35659145A>T ENST00000440995.2 + 8 1003 c.1003A>T c.(1003-1005)Att>Ttt p.I335F SPEF2_ENST00000282469.6_Missense_Mutation_p.I335F|SPEF2_ENST00000356031.3_Missense_Mutation_p.I335F|SPEF2_ENST00000509059.1_Missense_Mutation_p.I335F Q9C093 SPEF2_HUMAN sperm flagellar 2 335 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity p.I335F(2) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGAACAGCTGATTAACCGGCT 0.478000 4 28 0 0 0.004482 0 0 CT45A5 441521 broad.mit.edu 37 X 134947928 134947928 + Nonsense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:134947928C>A ENST00000370724.3 - 3 641 c.397G>T c.(397-399)Gaa>Taa p.E133* CT45A5_ENST00000491480.1_Nonsense_Mutation_p.E133*|CT45A4_ENST00000420087.2_Intron NM_001007551.3|NM_001172288.1 NP_001007552.1|NP_001165759.1 Q6NSH3 CT455_HUMAN cancer/testis antigen family 45, member A5 133 p.E133*(1) endometrium(1)|large_intestine(2)|lung(6) 9 CATCGGATTTCCTTCACTACT 0.388000 21 177 5.35356e-11 7.84011e-11 0.016522 1 0 AVPR1A 552 broad.mit.edu 37 12 63544585 63544585 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr12:63544585G>T ENST00000299178.2 - 1 137 c.32C>A c.(31-33)cCc>cAc p.P11H NM_000706.4 NP_000697.1 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 11 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 p.P11H(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1) 26 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) GTTGCCCGAGGGCCCCGCGTC 0.731000 25 35 7.92952e-12 1.20721e-11 0.021523 1 0 CDH10 1008 broad.mit.edu 37 5 24491831 24491831 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr5:24491831C>T ENST00000264463.4 - 11 2237 c.1730G>A c.(1729-1731)aGc>aAc p.S577N CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 577 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.S577N(1) NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) GCCTGTGCTGCTCTGAATTGG 0.488000 HNSCC(23;0.051) 7 86 0 0 0.003080 0 0 TCF7L1 83439 broad.mit.edu 37 2 85533621 85533621 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr2:85533621C>T ENST00000282111.3 + 10 1471 c.1196C>T c.(1195-1197)gCc>gTc p.A399V NM_031283.2 NP_112573.1 Q9HCS4 TF7L1_HUMAN transcription factor 7-like 1 (T-cell specific, HMG-box) 399 chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.A399V(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1) 18 TACGAGCTGGCCCGGAAGGAG 0.612000 13 55 0 0 0.004990 0 0 SELP 6403 broad.mit.edu 37 1 169566244 169566244 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:169566244G>T ENST00000263686.6 - 11 1913 c.1876C>A c.(1876-1878)Cca>Aca p.P626T SELP_ENST00000367791.2_Intron|SELP_ENST00000367794.2_Missense_Mutation_p.P564T|SELP_ENST00000458599.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.P564T|SELP_ENST00000367788.2_Missense_Mutation_p.P564T|SELP_ENST00000367792.2_Intron|SELP_ENST00000367786.2_Missense_Mutation_p.P564T NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 626 Sushi 7. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding p.P626T(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) CAGGTTGGTGGAGTAGCTGAC 0.398000 11 71 5.50884e-06 6.66373e-06 0.013537 1 0 SLC6A17 388662 broad.mit.edu 37 1 110738261 110738261 + Nonsense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:110738261G>T ENST00000331565.4 + 10 2031 c.1546G>T c.(1546-1548)Gga>Tga p.G516* NM_001010898.2 NP_001010898.1 Q9H1V8 S6A17_HUMAN solute carrier family 6 (neutral amino acid transporter), member 17 516 alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity p.G516*(1) breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) CCAGCGCTCCGGAAACTACTT 0.572000 8 78 0.00448238 0.00480731 0.004482 1 0 RABL5 64792 broad.mit.edu 37 7 100958530 100958530 + Nonsense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr7:100958530G>C ENST00000517481.1 - 6 582 c.212C>G c.(211-213)tCa>tGa p.S71* RABL5_ENST00000437644.2_Nonsense_Mutation_p.S118*|RABL5_ENST00000315322.4_Nonsense_Mutation_p.S148*|RABL5_ENST00000498704.2_Nonsense_Mutation_p.S71*|RABL5_ENST00000495166.1_5'UTR Q9H7X7 RABL5_HUMAN RAB, member RAS oncogene family-like 5 148 GTP binding p.S148*(1) endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 7 Lung NSC(181;0.215) TTCCAGGTTTGAGTGCACCAG 0.443000 OREG0018221 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 118 0 0 0.010729 0 0 TEX11 56159 broad.mit.edu 37 X 69849576 69849576 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:69849576G>T ENST00000395889.2 - 19 1693 c.1538C>A c.(1537-1539)gCa>gAa p.A513E TEX11_ENST00000374320.2_Missense_Mutation_p.A188E|TEX11_ENST00000374333.2_Missense_Mutation_p.A498E|TEX11_ENST00000344304.3_Missense_Mutation_p.A513E NM_001003811.1 NP_001003811.1 Q8IYF3 TEX11_HUMAN testis expressed 11 513 protein binding p.A498E(1) breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3) 48 Renal(35;0.156) AGTAATTATTGCCTGCAAAGC 0.313000 5 62 0.000602214 0.000668226 0.014758 1 0 FLII 2314 broad.mit.edu 37 17 18150366 18150366 + Splice_Site SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr17:18150366C>G ENST00000327031.4 - 22 2902 c.2676_splice c.e22-1 p.A893_splice FLII_ENST00000578558.1_Intron|FLII_ENST00000579294.1_Splice_Site_p.A882_splice|FLII_ENST00000379450.4_Splice_Site_p.A807_splice|FLII_ENST00000545457.2_Splice_Site_p.A838_splice NM_002018.3 NP_002009.1 Q13045 FLII_HUMAN flightless I homolog (Drosophila) 893 Glu-rich. multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding p.A893P(1) central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_neural(463;0.228) AGCTGCTCCGCCTGCAGGTGA 0.706000 8 55 0 0 0.016723 0 0 OR51E1 143503 broad.mit.edu 37 11 4674576 4674576 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr11:4674576C>T ENST00000396952.5 + 2 1470 c.820C>T c.(820-822)Ctg>Ttg p.L274L OR51E1_ENST00000530215.1_Silent_p.R50R NM_152430.3 NP_689643.2 Q8TCB6 O51E1_HUMAN olfactory receptor, family 51, subfamily E, member 1 273 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L273L(1) NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2) 30 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19) TGACTCTCCGCTGCCCGTCAT 0.498000 29 176 0 0 0.007291 0 0 NLGN4X 57502 broad.mit.edu 37 X 5821792 5821792 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:5821792C>T ENST00000381095.3 - 5 1554 c.927G>A c.(925-927)ctG>ctA p.L309L NLGN4X_ENST00000381092.1_Silent_p.L309L|NLGN4X_ENST00000381093.2_Silent_p.L329L|NLGN4X_ENST00000538097.1_Silent_p.L309L|NLGN4X_ENST00000275857.6_Silent_p.L309L NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 309 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity p.L309L(1) breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 CCGTGGTGTCCAGCATGTTGC 0.592000 24 102 0 0 0.005443 0 0 PLCB4 5332 broad.mit.edu 37 20 9416206 9416206 + Splice_Site SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr20:9416206G>T ENST00000378501.2 + 25 2503 c.e25-1 PLCB4_ENST00000334005.3_Splice_Site|PLCB4_ENST00000378473.3_Splice_Site|PLCB4_ENST00000278655.4_Splice_Site|PLCB4_ENST00000414679.2_Splice_Site|PLCB4_ENST00000378493.1_Splice_Site|PLCB4_ENST00000492632.1_Splice_Site NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity p.?(1) NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 TTTTCCCCTAGATATCGTGGA 0.348000 8 63 0.000274275 0.000310307 0.004482 1 0 COL4A2 1284 broad.mit.edu 37 13 111132690 111132690 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr13:111132690C>A ENST00000360467.5 + 31 3017 c.2711C>A c.(2710-2712)cCt>cAt p.P904H NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 904 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding p.P904H(1) NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) CCAGGAAGCCCTGGATTTAAA 0.577000 12 123 3.27435e-08 4.36328e-08 0.020292 1 0 GCH1 2643 broad.mit.edu 37 14 55310797 55310797 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr14:55310797A>T ENST00000491895.2 - 6 879 c.691T>A c.(691-693)Ttg>Atg p.L231M GCH1_ENST00000536224.2_Intron|GCH1_ENST00000395514.1_Missense_Mutation_p.L231M|GCH1_ENST00000254299.4_5'UTR|GCH1_ENST00000543643.2_Intron NM_000161.2 NP_000152.1 P30793 GCH1_HUMAN GTP cyclohydrolase 1 231 dopamine biosynthetic process|GTP catabolic process|neuromuscular process controlling posture|nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|protein homooligomerization|response to interferon-gamma|response to lipopolysaccharide|response to pain|response to tumor necrosis factor|tetrahydrobiopterin biosynthetic process|tetrahydrofolate biosynthetic process cytoplasmic vesicle|cytosol|nuclear membrane|protein complex GTP binding|GTP cyclohydrolase I activity|protein homodimerization activity|zinc ion binding p.L231M(1) endometrium(2)|lung(7)|skin(2) 11 AACACACCCAACATTGTGCTG 0.463000 18 170 0 0 0.006122 0 0 TNFAIP8L3 388121 broad.mit.edu 37 15 51350211 51350211 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr15:51350211A>T ENST00000327536.5 - 3 845 c.746T>A c.(745-747)aTc>aAc p.I249N RP11-108K3.1_ENST00000559909.1_lincRNA NM_207381.2 NP_997264.2 Q5GJ75 TP8L3_HUMAN tumor necrosis factor, alpha-induced protein 8-like 3 249 p.I249N(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 11 all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338) GACGTGGTTGATGCGCCCGTG 0.552000 12 51 0 0 0.013537 0 0 SEPT6 23157 broad.mit.edu 37 X 118771019 118771019 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:118771019C>T ENST00000394610.1 - 7 1191 c.927G>A c.(925-927)aaG>aaA p.K309K SEPT6_ENST00000394617.2_Silent_p.K339K|SEPT6_ENST00000354228.4_Silent_p.K309K|SEPT6_ENST00000360156.7_Silent_p.K309K|SEPT6_ENST00000354416.3_Silent_p.K309K|SEPT6_ENST00000489216.1_Silent_p.K309K|SEPT6_ENST00000343984.5_Silent_p.K309K|SEPT6_ENST00000394616.4_Silent_p.K251K NM_145799.3 NP_665798.1 Q14141 SEPT6_HUMAN septin 6 309 cell cycle|cytokinesis|interspecies interaction between organisms cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle GTP binding|protein binding p.K309K(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3) 17 GGTCGGTGTCCTTGAAGCCCA 0.612000 T MLL AML 10 85 0 0 0.013537 0 0 SEZ6L 23544 broad.mit.edu 37 22 26706764 26706764 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr22:26706764A>T ENST00000529632.2 + 7 1839 c.1643A>T c.(1642-1644)cAg>cTg p.Q548L SEZ6L_ENST00000248933.6_Missense_Mutation_p.Q548L|SEZ6L_ENST00000403121.1_Missense_Mutation_p.Q321L|SEZ6L_ENST00000402979.1_Missense_Mutation_p.Q321L|SEZ6L_ENST00000360929.3_Missense_Mutation_p.Q548L|SEZ6L_ENST00000404234.3_Missense_Mutation_p.Q548L|SEZ6L_ENST00000343706.4_Missense_Mutation_p.Q548L NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 548 CUB 2. endoplasmic reticulum membrane|integral to membrane p.Q548L(1) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 ACGTCCGACCAGGCCCGGGCG 0.597000 13 140 0 0 0.004990 0 0 FAT4 79633 broad.mit.edu 37 4 126372425 126372425 + Silent SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr4:126372425A>T ENST00000394329.3 + 9 10267 c.10254A>T c.(10252-10254)ccA>ccT p.P3418P FAT4_ENST00000335110.5_Silent_p.P1716P NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3418 Cadherin 33. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P3418P(2) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AAGGGGTCCCAATAGGAACTC 0.453000 37 220 0 0 0.019004 0 0 OR4D11 219986 broad.mit.edu 37 11 59271767 59271767 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr11:59271767G>T ENST00000313253.1 + 1 719 c.719G>T c.(718-720)tGc>tTc p.C240F NM_001004706.1 NP_001004706.1 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, member 11 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C240F(1) endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 ATCTCCACTTGCACCTCCCAC 0.552000 37 320 1.58521e-26 2.8763e-26 0.023175 1 0 LRBA 987 broad.mit.edu 37 4 151792559 151792559 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr4:151792559C>A ENST00000535741.1 - 19 2778 c.2305G>T c.(2305-2307)Gct>Tct p.A769S LRBA_ENST00000357115.3_Missense_Mutation_p.A769S|LRBA_ENST00000510413.1_Missense_Mutation_p.A769S|LRBA_ENST00000507224.1_Missense_Mutation_p.A769S P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 769 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding p.A769S(1) breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) AGCCTTTCAGCTAGCAATGAA 0.363000 33 179 1.04352e-10 1.50152e-10 0.017118 1 0 MYOCD 93649 broad.mit.edu 37 17 12666878 12666878 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr17:12666878C>A ENST00000425538.1 + 14 3078 c.2878C>A c.(2878-2880)Ccc>Acc p.P960T RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000343344.4_Missense_Mutation_p.P912T NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 912 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding p.P960T(1)|p.P912T(1) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CACCAGCAGCCCCAGCATCTT 0.517000 11 60 1.58986e-06 1.97705e-06 0.008291 1 0 REG3A 5068 broad.mit.edu 37 2 79385822 79385822 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr2:79385822G>C ENST00000393878.1 - 2 404 c.150C>G c.(148-150)caC>caG p.H50Q REG3A_ENST00000409839.3_Missense_Mutation_p.H50Q|REG3A_ENST00000305165.2_Missense_Mutation_p.H50Q|AC011754.1_ENST00000415201.1_RNA NM_138938.2 NP_620355.1 Q06141 REG3A_HUMAN regenerating islet-derived 3 alpha 50 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding p.H50Q(1) breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1) 50 AGGCATAGCAGTGGGAGCCAT 0.572000 5 61 0 0 0.014758 0 0 OR10K2 391107 broad.mit.edu 37 1 158390597 158390597 + Silent SNP C C A rs138054803 TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:158390597C>A ENST00000314902.2 - 1 59 c.60G>T c.(58-60)ctG>ctT p.L20L NM_001004476.1 NP_001004476.1 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, member 2 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L20L(1) NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) GCAGCCTGGCCAGGGATGAGA 0.522000 8 40 3.86212e-05 4.48379e-05 0.008291 1 0 ODF1 4956 broad.mit.edu 37 8 103573108 103573108 + Missense_Mutation SNP T T C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr8:103573108T>C ENST00000285402.3 + 2 905 c.749T>C c.(748-750)tTg>tCg p.L250S ODF1_ENST00000518835.1_Missense_Mutation_p.L43S NM_024410.3 NP_077721.2 Q14990 ODFP1_HUMAN outer dense fiber of sperm tails 1 250 cell differentiation|multicellular organismal development|spermatogenesis outer dense fiber structural molecule activity p.L250S(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826) AAGATGATTTTGTAAAGTGCG 0.517000 17 228 0 0 0.006122 0 0 PTH 5741 broad.mit.edu 37 11 13514017 13514017 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr11:13514017C>T ENST00000282091.1 - 3 397 c.283G>A c.(283-285)Gaa>Aaa p.E95K PTH_ENST00000529816.1_Missense_Mutation_p.E95K NM_000315.2 NP_000306.1 P01270 PTHY_HUMAN parathyroid hormone 95 bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development hormone activity|peptide hormone receptor binding p.E95K(1) endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 10 BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836) AGACTTTTTTCATGGCTCTCA 0.438000 11 62 0 0 0.008291 0 0 KRT6B 3854 broad.mit.edu 37 12 52841600 52841600 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr12:52841600G>A ENST00000252252.3 - 7 1433 c.1386C>T c.(1384-1386)atC>atT p.I462I NM_005555.3 NP_005546.2 P04259 K2C6B_HUMAN keratin 6B 462 Coil 2.|Rod. ectoderm development keratin filament structural constituent of cytoskeleton p.I462I(1) NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2) 40 BRCA - Breast invasive adenocarcinoma(357;0.083) GGTAGGTGGCGATCTCCACAT 0.612000 13 186 0 0 0.020292 0 0 IL31RA 133396 broad.mit.edu 37 5 55212479 55212479 + Missense_Mutation SNP T T A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr5:55212479T>A ENST00000396834.1 + 17 2265 c.1769T>A c.(1768-1770)cTa>cAa p.L590Q IL31RA_ENST00000354961.4_Missense_Mutation_p.L590Q|IL31RA_ENST00000447346.2_Missense_Mutation_p.L609Q|IL31RA_ENST00000359040.5_Missense_Mutation_p.L609Q|IL31RA_ENST00000490985.1_Missense_Mutation_p.L467Q NM_001242638.1 NP_001229567.1 Q8NI17 IL31R_HUMAN interleukin 31 receptor A 577 anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity p.L609Q(1) endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) CAGGATAAGCTAAACCTGAAG 0.448000 23 136 0 0 0.009535 0 0 HIP1 3092 broad.mit.edu 37 7 75189162 75189162 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr7:75189162C>T ENST00000336926.6 - 14 1275 c.1249G>A c.(1249-1251)Gcc>Acc p.A417T HIP1_ENST00000434438.2_Missense_Mutation_p.A417T NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 417 pDED. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton p.A417T(1) breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 TGCTGCTCGGCCAGATCTGCT 0.672000 T PDGFRB CMML 3 11 0 0 0.001984 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79063993 79063993 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr15:79063993G>A ENST00000388820.4 - 15 2520 c.2310C>T c.(2308-2310)taC>taT p.Y770Y ADAMTS7_ENST00000566303.1_Intron NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 770 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.Y770Y(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CCCTGCGTGCGTATGTGAAGG 0.657000 4 37 0 0 0.009096 0 0 CATSPER1 117144 broad.mit.edu 37 11 65790348 65790348 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr11:65790348C>A ENST00000312106.5 - 2 1538 c.1401G>T c.(1399-1401)caG>caT p.Q467H NM_053054.3 NP_444282.3 Q8NEC5 CTSR1_HUMAN cation channel, sperm associated 1 467 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding p.Q467H(1) breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 CAGCGAAGGTCTGGGCCACCA 0.577000 OREG0021092 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 118 5.9392e-07 7.51517e-07 0.021553 1 0 JPH3 57338 broad.mit.edu 37 16 87678552 87678552 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr16:87678552C>G ENST00000284262.2 + 2 1313 c.1071C>G c.(1069-1071)agC>agG p.S357R NM_020655.2 NP_065706.2 Q8WXH2 JPH3_HUMAN junctophilin 3 357 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding p.S357R(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(80;0.0287) TGCGGGCCAGCAAGATCCGCG 0.662000 3 58 0 0 0.004672 0 0 ATP11A 23250 broad.mit.edu 37 13 113527887 113527887 + Splice_Site SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr13:113527887C>G ENST00000487903.1 + 27 3146 c.3057_splice c.e27-1 p.L1020_splice ATP11A_ENST00000375645.3_Splice_Site_p.L1020_splice|ATP11A_ENST00000283558.8_Splice_Site_p.L1020_splice|ATP11A_ENST00000375630.2_Splice_Site_p.L1020_splice P98196 AT11A_HUMAN ATPase, class VI, type 11A 1020 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.L1020V(2) NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) TTCCTTTTAGCTTGCATTGGA 0.488000 OREG0003854 type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 17 98 0 0 0.004990 0 0 GLRA3 8001 broad.mit.edu 37 4 175636673 175636673 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr4:175636673C>A ENST00000274093.3 - 5 1042 c.540G>T c.(538-540)atG>atT p.M180I GLRA3_ENST00000340217.5_Missense_Mutation_p.M180I NM_006529.2 NP_006520.2 O75311 GLRA3_HUMAN glycine receptor, alpha 3 180 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity p.M180I(1) endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) TTTGTACATCCATGGGAAAAT 0.274000 6 62 5.18039e-06 6.30609e-06 0.003080 1 0 MRC2 9902 broad.mit.edu 37 17 60765739 60765739 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr17:60765739C>T ENST00000303375.5 + 21 3438 c.3036C>T c.(3034-3036)gtC>gtT p.V1012V MRC2_ENST00000446119.2_5'UTR NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 1012 C-type lectin 6. endocytosis integral to membrane receptor activity|sugar binding p.V1012V(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 CCCAGCTGGTCACCATCACAA 0.582000 20 90 0 0 0.010504 0 0 RLIM 51132 broad.mit.edu 37 X 73812218 73812218 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:73812218C>A ENST00000332687.6 - 4 1150 c.932G>T c.(931-933)gGa>gTa p.G311V RLIM_ENST00000349225.2_Missense_Mutation_p.G311V NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 311 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding p.G311V(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CTGTCCTGATCCTGTAGATTC 0.478000 5 57 3.59834e-05 4.21144e-05 0.021553 1 0 ZNF618 114991 broad.mit.edu 37 9 116811997 116811997 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr9:116811997C>T ENST00000288466.7 + 14 2235 c.2136C>T c.(2134-2136)gcC>gcT p.A712A ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Silent_p.A805A NM_133374.2 NP_588615.2 Q5T7W0 ZN618_HUMAN zinc finger protein 618 805 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A722A(1)|p.A805A(1)|p.A712A(1) breast(1)|endometrium(4)|lung(10)|urinary_tract(1) 16 ACAAGGTGGCCATGATCCTGG 0.617000 12 47 0 0 0.013537 0 0 PLCD4 84812 broad.mit.edu 37 2 219495489 219495489 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr2:219495489G>A ENST00000450993.2 + 9 1575 c.1236G>A c.(1234-1236)ttG>ttA p.L412L PLCD4_ENST00000417849.1_Silent_p.L412L|PLCD4_ENST00000432688.1_Silent_p.L412L NM_032726.3 NP_116115.1 Q9BRC7 PLCD4_HUMAN phospholipase C, delta 4 412 PI-PLC X-box. intracellular signal transduction|lipid catabolic process endoplasmic reticulum|membrane|nucleus calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.L412L(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3) 23 Renal(207;0.0915) Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) GCACCACCTTGGATGGGGTGC 0.637000 6 52 0 0 0.021553 0 0 OR9Q2 219957 broad.mit.edu 37 11 57958429 57958429 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr11:57958429C>A ENST00000311591.3 + 1 524 c.467C>A c.(466-468)gCc>gAc p.A156D NM_001005283.2 NP_001005283.1 Q8NGE9 OR9Q2_HUMAN olfactory receptor, family 9, subfamily Q, member 2 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A156D(1) breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Breast(21;0.0589) TTTTTCAGTGCCTTTGTTCGA 0.502000 18 105 5.03518e-11 7.39262e-11 0.007413 1 0 CNTN5 53942 broad.mit.edu 37 11 99932110 99932110 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr11:99932110C>A ENST00000524871.1 + 10 1437 c.1147C>A c.(1147-1149)Caa>Aaa p.Q383K CNTN5_ENST00000418526.2_Missense_Mutation_p.Q309K|CNTN5_ENST00000528682.1_Missense_Mutation_p.Q383K|CNTN5_ENST00000279463.3_Missense_Mutation_p.Q383K|CNTN5_ENST00000527185.1_Missense_Mutation_p.Q383K NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 383 Ig-like C2-type 3. cell adhesion anchored to membrane|plasma membrane protein binding p.Q383K(2) NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 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) CTTTCGTGGACAATTACAAGT 0.383000 14 39 9.05144e-12 1.37439e-11 0.016723 1 0 HGF 3082 broad.mit.edu 37 7 81335060 81335060 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr7:81335060G>T ENST00000222390.5 - 16 1993 c.1767C>A c.(1765-1767)gtC>gtA p.V589V HGF_ENST00000457544.2_Silent_p.V584V NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 589 Peptidase S1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity p.V589V(1) NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 AATCATCCAGGACAGCAGGCC 0.363000 8 76 3.09899e-07 3.96478e-07 0.004482 1 0 RYR2 6262 broad.mit.edu 37 1 237794761 237794761 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:237794761C>A ENST00000366574.2 + 42 6792 c.6475C>A c.(6475-6477)Cct>Act p.P2159T RYR2_ENST00000360064.6_Missense_Mutation_p.P2157T|RYR2_ENST00000542537.1_Missense_Mutation_p.P2143T NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2159 4 X approximate repeats. 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 p.P2157S(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 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) TTACCAGCACCCTAATCTCAT 0.453000 12 42 4.36969e-10 6.14954e-10 0.016723 1 0 FLT4 2324 broad.mit.edu 37 5 180048156 180048156 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr5:180048156G>T ENST00000261937.6 - 14 2195 c.2117C>A c.(2116-2118)gCg>gAg p.A706E FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.A706E|FLT4_ENST00000502649.1_Missense_Mutation_p.A706E NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 706 Ig-like C2-type 7. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity p.A706E(2)|p.A516E(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) GATGCTGGGCGCGTGCGCTCC 0.667000 8 58 2.17888e-05 2.58154e-05 0.006214 1 0 CILP2 148113 broad.mit.edu 37 19 19655874 19655874 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr19:19655874C>A ENST00000586018.1 + 8 2640 c.2538C>A c.(2536-2538)gaC>gaA p.D846E CILP2_ENST00000291495.4_Missense_Mutation_p.D840E Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 840 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity p.D840E(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 CCTACCTGGACAGGCTGGGGT 0.721000 10 23 0.00010058 0.000115377 0.013537 1 0 PFKFB3 5209 broad.mit.edu 37 10 6268204 6268204 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr10:6268204C>T ENST00000379775.4 + 14 1721 c.1391C>T c.(1390-1392)cCg>cTg p.P464L PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000360521.2_Missense_Mutation_p.P464L|PFKFB3_ENST00000379782.3_Missense_Mutation_p.P464L|PFKFB3_ENST00000540253.1_Missense_Mutation_p.P478L|PFKFB3_ENST00000379789.4_Missense_Mutation_p.P444L|PFKFB3_ENST00000317350.4_Missense_Mutation_p.P464L|PFKFB3_ENST00000379785.1_Missense_Mutation_p.P464L NM_004566.3 NP_004557.1 Q16875 F263_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 464 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding p.P464Q(2)|p.P464L(2) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1) 22 AGTGTCACCCCGCTAGCCAGC 0.577000 10 74 0 0 0.004990 0 0 SLN 6588 broad.mit.edu 37 11 107578577 107578577 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr11:107578577C>A ENST00000531293.1 - 3 432 c.80G>T c.(79-81)aGg>aTg p.R27M SLN_ENST00000305991.2_Missense_Mutation_p.R27M|SLN_ENST00000525934.1_Missense_Mutation_p.R27M O00631 SARCO_HUMAN sarcolipin 27 calcium ion transport|regulation of calcium ion transport integral to membrane|sarcoplasmic reticulum membrane enzyme regulator activity p.R27M(1) large_intestine(1)|lung(1) 2 Melanoma(852;1.46e-05)|all_epithelial(67;1.72e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;2.71e-05)|Epithelial(105;0.000112)|all cancers(92;0.00219) CTGATAGGACCTCACAAGGAG 0.512000 8 79 1.06961e-07 1.39002e-07 0.003080 1 0 C4orf21 55345 broad.mit.edu 37 4 113506721 113506721 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr4:113506721C>A ENST00000505019.1 - 14 4202 c.4077G>T c.(4075-4077)atG>atT p.M1359I NM_018392.4 NP_060862.3 Q86YA3 CD021_HUMAN chromosome 4 open reading frame 21 0 p.M1359I(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) CCTTTTTAACCATGACAAGTT 0.363000 5 30 0.014758 0.0153985 0.014758 1 0 KCNE1L 23630 broad.mit.edu 37 X 108867958 108867958 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:108867958A>T ENST00000372101.2 - 1 435 c.292T>A c.(292-294)Tgc>Agc p.C98S RP1-136J15.3_ENST00000439581.1_RNA NM_012282.2 NP_036414.1 Q9UJ90 KCE1L_HUMAN KCNE1-like 98 regulation of heart contraction voltage-gated potassium channel complex p.C98S(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 6 TGCTCGGCGCAAGCCTGGGAC 0.721000 3 25 0 0 0.014758 0 0 CPA3 1359 broad.mit.edu 37 3 148586769 148586769 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr3:148586769G>A ENST00000296046.3 + 3 264 c.212G>A c.(211-213)aGt>aAt p.S71N RP11-680B3.2_ENST00000488190.1_RNA NM_001870.2 NP_001861.2 P15088 CBPA3_HUMAN carboxypeptidase A3 (mast cell) 71 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding p.S71N(1) NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) TTCCGAGTTAGTGAGAAGGAA 0.418000 7 69 0 0 0.001984 0 0 PON3 5446 broad.mit.edu 37 7 95001637 95001637 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr7:95001637G>A ENST00000265627.5 - 4 225 c.215C>T c.(214-216)cCa>cTa p.P72L PON3_ENST00000427422.1_Missense_Mutation_p.P72L|PON1_ENST00000542556.1_Intron NM_000940.2 NP_000931.1 paraoxonase 3 p.P72L(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 24 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0151) TGGCATGCCTGGATATTTTAA 0.348000 11 93 0 0 0.010729 0 0 CNTN1 1272 broad.mit.edu 37 12 41337888 41337888 + Silent SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr12:41337888C>A ENST00000551295.2 + 14 1716 c.1599C>A c.(1597-1599)gcC>gcA p.A533A CNTN1_ENST00000360099.3_Silent_p.A533A|CNTN1_ENST00000547849.1_Silent_p.A533A|CNTN1_ENST00000347616.1_Silent_p.A533A|CNTN1_ENST00000348761.2_Silent_p.A522A|CNTN1_ENST00000547702.1_Silent_p.A533A NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 533 Ig-like C2-type 6. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane p.A533A(1) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TTGATCCTGCCTTGGATCTCA 0.393000 22 50 1.50039e-11 2.24864e-11 0.012319 1 0 GOLGA3 2802 broad.mit.edu 37 12 133360732 133360732 + Silent SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr12:133360732C>G ENST00000545875.1 - 16 3505 c.3285G>C c.(3283-3285)ctG>ctC p.L1095L GOLGA3_ENST00000456883.2_Intron|GOLGA3_ENST00000450791.2_Intron|GOLGA3_ENST00000204726.3_Intron|GOLGA3_ENST00000537452.1_Silent_p.L1095L NM_001172557.1 NP_001166028.1 Q08378 GOGA3_HUMAN golgin A3 0 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity p.L1095L(1) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GCCGCCACAGCAGATGGCCAG 0.627000 6 39 0 0 0.001984 0 0 TRBV6-8 28599 broad.mit.edu 37 7 142124226 142124226 + RNA SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr7:142124226G>A ENST00000390376.2 - 0 251 TTAATCTAGAGACATTGTAGC 0.522000 27 227 0 0 0.009718 0 0 USP6NL 9712 broad.mit.edu 37 10 11531201 11531201 + Silent SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr10:11531201C>A ENST00000379237.1 - 10 958 c.564G>T c.(562-564)ggG>ggT p.G188G USP6NL_ENST00000277575.5_Silent_p.G205G NM_014688.2 NP_055503.1 Q92738 US6NL_HUMAN USP6 N-terminal like 188 Rab-GAP TBC. intracellular Rab GTPase activator activity p.G205G(1) endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1) 32 TCTGGCTCATCCCCTGACAAT 0.483000 30 72 1.06801e-11 1.6132e-11 0.009535 1 0 SETBP1 26040 broad.mit.edu 37 18 42530897 42530897 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr18:42530897G>T ENST00000282030.5 + 4 1888 c.1592G>T c.(1591-1593)aGg>aTg p.R531M NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 531 nucleus DNA binding p.R477M(1)|p.R531M(1) NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) GCAAAACGAAGGTGGACTTGC 0.517000 Schinzel-Giedion syndrome 44 179 2.52991e-16 4.24348e-16 0.014410 1 0 RGS13 6003 broad.mit.edu 37 1 192613472 192613472 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:192613472G>T ENST00000391995.2 + 4 296 c.8G>T c.(7-9)aGg>aTg p.R3M RGS13_ENST00000543215.1_Missense_Mutation_p.R3M NM_002927.4 NP_002918.1 O14921 RGS13_HUMAN regulator of G-protein signaling 13 3 plasma membrane GTPase activator activity|signal transducer activity p.R3M(1) endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1) 19 AAAATGAGCAGGCGGAATTGT 0.289000 23 147 7.38237e-10 1.03389e-09 0.006320 1 0 C1orf186 440712 broad.mit.edu 37 1 206239421 206239421 + Silent SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:206239421A>T ENST00000331555.5 - 6 1115 c.477T>A c.(475-477)ccT>ccA p.P159P NM_001007544.1 NP_001007545.1 Q6ZWK4 CA186_HUMAN chromosome 1 open reading frame 186 159 integral to membrane p.P159P(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 9 BRCA - Breast invasive adenocarcinoma(75;0.0754) CAGACAGAGCAGGGTTGACAA 0.403000 29 100 0 0 0.019004 0 0 OR2T2 401992 broad.mit.edu 37 1 248616384 248616384 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:248616384C>T ENST00000342927.3 + 1 308 c.286C>T c.(286-288)Ctg>Ttg p.L96L NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L96L(1) cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 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) CATTTCCTTCCTGGGCTGTGC 0.527000 24 341 0 0 0.005443 0 0 PLCD3 113026 broad.mit.edu 37 17 43195505 43195505 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr17:43195505C>A ENST00000322765.5 - 7 1229 c.1116G>T c.(1114-1116)agG>agT p.R372S PLCD3_ENST00000540511.1_5'UTR NM_133373.3 NP_588614.1 Q8N3E9 PLCD3_HUMAN phospholipase C, delta 3 372 PI-PLC X-box. intracellular signal transduction|lipid catabolic process cleavage furrow|cytoplasm|membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.R372S(2) breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2) 17 Phosphatidylserine(DB00144) GGGCAAAGGCCCTGTGTGTGG 0.657000 9 54 0.000978159 0.00108122 0.010729 1 0 PCDH11X 27328 broad.mit.edu 37 X 91642839 91642839 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:91642839G>T ENST00000373094.1 + 5 4095 c.3250G>T c.(3250-3252)Ggc>Tgc p.G1084C PCDH11X_ENST00000373088.1_Missense_Mutation_p.G1047C|PCDH11X_ENST00000504220.1_Intron|PCDH11X_ENST00000361655.2_Missense_Mutation_p.G1074C|PCDH11X_ENST00000406881.1_Missense_Mutation_p.G1084C|PCDH11X_ENST00000298274.8_Missense_Mutation_p.G1047C|PCDH11X_ENST00000373097.1_Missense_Mutation_p.G1074C NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 1084 homophilic cell adhesion integral to plasma membrane calcium ion binding p.G1084C(1) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CACATCTCATGGCCTGCCCCT 0.552000 12 78 4.36969e-10 6.14954e-10 0.016723 1 0 DRD2 1813 broad.mit.edu 37 11 113285167 113285167 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr11:113285167G>T ENST00000362072.3 - 6 1084 c.740C>A c.(739-741)cCc>cAc p.P247H DRD2_ENST00000542968.1_Missense_Mutation_p.P247H|DRD2_ENST00000538967.1_Missense_Mutation_p.P247H|DRD2_ENST00000355319.2_Missense_Mutation_p.P247H|DRD2_ENST00000346454.3_Intron|DRD2_ENST00000544518.1_Missense_Mutation_p.P246H|DRD2_ENST00000535984.1_5'UTR NM_000795.3 NP_000786.1 P14416 DRD2_HUMAN dopamine receptor D2 247 Interaction with PPP1R9B (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding p.P247N(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) CATGTCCTCGGGGTGAGTACA 0.557000 40 212 3.78316e-11 5.58282e-11 0.006230 1 0 BAGE2 85319 broad.mit.edu 37 21 11098888 11098888 + RNA SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr21:11098888G>T ENST00000470054.1 - 0 37 B melanoma antigen family, member 2 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) ggtcctctaagccgggaacag 0.607000 4 25 0.00909568 0.00955958 0.009096 1 0 PAK7 57144 broad.mit.edu 37 20 9523281 9523281 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr20:9523281C>A ENST00000378429.3 - 10 2502 c.1956G>T c.(1954-1956)atG>atT p.M652I PAK7_ENST00000378423.1_Missense_Mutation_p.M652I|PAK7_ENST00000353224.5_Missense_Mutation_p.M652I NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 652 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity p.M652I(1) NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) GGATCCTCCGCATCGCCTGGA 0.512000 23 137 9.95505e-16 1.66013e-15 0.014323 1 0 WSCD1 23302 broad.mit.edu 37 17 5993675 5993675 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr17:5993675G>C ENST00000574946.1 + 4 967 c.577G>C c.(577-579)Gag>Cag p.E193Q WSCD1_ENST00000573634.1_Missense_Mutation_p.E77Q|WSCD1_ENST00000317744.5_Missense_Mutation_p.E193Q|WSCD1_ENST00000574232.1_Missense_Mutation_p.E193Q|WSCD1_ENST00000539421.1_Missense_Mutation_p.E193Q Q658N2 WSCD1_HUMAN WSC domain containing 1 193 WSC 1. integral to membrane sulfotransferase activity p.E193Q(1) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1) 35 GGCCGGGGCGGAGTGTTACTG 0.647000 4 47 0 0 0.008291 0 0 UNC13C 440279 broad.mit.edu 37 15 54914593 54914593 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr15:54914593G>A ENST00000545554.1 + 30 6175 c.6175G>A c.(6175-6177)Gga>Aga p.G2059R UNC13C_ENST00000537900.1_Missense_Mutation_p.G2057R|UNC13C_ENST00000539562.2_5'UTR|UNC13C_ENST00000260323.11_Missense_Mutation_p.G2059R Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 2059 C2 2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding p.G2059R(2) breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CCCAGGAACGGGAGATCATAA 0.443000 17 52 0 0 0.007413 0 0 FOXI1 2299 broad.mit.edu 37 5 169535126 169535126 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr5:169535126G>C ENST00000306268.6 + 2 709 c.648G>C c.(646-648)agG>agC p.R216S FOXI1_ENST00000449804.2_Intron Q12951 FOXI1_HUMAN forkhead box I1 216 epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity 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|transcription regulatory region DNA binding p.R216S(1) breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCAGGAAAAGGAAGAGAAAAT 0.498000 Pendred syndrome 15 129 0 0 0.004007 0 0 GPR112 139378 broad.mit.edu 37 X 135432071 135432071 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:135432071C>A ENST00000394143.1 + 6 6497 c.6206C>A c.(6205-6207)aCc>aAc p.T2069N GPR112_ENST00000370652.1_Missense_Mutation_p.T2069N|GPR112_ENST00000287534.4_Missense_Mutation_p.T2006N|GPR112_ENST00000412101.1_Missense_Mutation_p.T1864N|GPR112_ENST00000394141.1_Missense_Mutation_p.T1864N NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2069 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.T2069N(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) ACCATACTCACCCGAACCATT 0.443000 17 186 7.07596e-05 8.16566e-05 0.006122 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274415 39274415 + Silent SNP C C T rs425487 by1000genomes TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr17:39274415C>T ENST00000391413.2 - 1 191 c.153G>A c.(151-153)agG>agA p.R51R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 51 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament p.R51R(6) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) AGCACTGGGGCCTGCAGCAGC 0.667000 5 51 0 0 0.001984 0 0 FYCO1 79443 broad.mit.edu 37 3 46006595 46006595 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr3:46006595C>A ENST00000296137.2 - 9 3285 c.3080G>T c.(3079-3081)aGc>aTc p.S1027I FYCO1_ENST00000535325.1_Missense_Mutation_p.S1027I NM_024513.3 NP_078789.2 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 1027 transport integral to membrane metal ion binding|protein binding p.S1027I(1) NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 54 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) GCCCCTGAGGCTCTTGCACTC 0.562000 5 56 0.00116845 0.00127447 0.021553 1 0 GAS2L2 246176 broad.mit.edu 37 17 34072787 34072787 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr17:34072787C>A ENST00000254466.6 - 6 1756 c.1729G>T c.(1729-1731)Gac>Tac p.D577Y GAS2L2_ENST00000587565.1_Missense_Mutation_p.D561Y NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 577 cell cycle arrest cytoplasm|cytoskeleton p.D577Y(1) central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AGGCCCAGGTCCCAGGACTCT 0.617000 29 87 5.61819e-17 9.451e-17 0.005443 1 0 CCDC108 255101 broad.mit.edu 37 2 219896345 219896345 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr2:219896345C>T ENST00000341552.5 - 7 764 c.681G>A c.(679-681)gcG>gcA p.A227A CCDC108_ENST00000409865.3_Silent_p.A216A|CCDC108_ENST00000410037.1_Silent_p.A162A|CCDC108_ENST00000453220.1_Silent_p.A227A|CCDC108_ENST00000441968.1_Silent_p.A227A NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 227 integral to membrane structural molecule activity p.A227A(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 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) ACATCCCCTCCGCTTTCTCAA 0.627000 36 159 0 0 0.019004 0 0 SLC22A16 85413 broad.mit.edu 37 6 110763908 110763908 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr6:110763908C>A ENST00000368919.3 - 4 788 c.722G>T c.(721-723)tGg>tTg p.W241L SLC22A16_ENST00000456137.2_3'UTR|SLC22A16_ENST00000330550.4_Missense_Mutation_p.W207L|SLC22A16_ENST00000439654.1_Missense_Mutation_p.W241L NM_033125.3 NP_149116.2 Q86VW1 S22AG_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 16 241 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity p.W241L(1) breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 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) GACAGACGCCCATGTCCGAGA 0.453000 20 79 4.35082e-09 5.97719e-09 0.010504 1 0 NOVA1 4857 broad.mit.edu 37 14 26917950 26917950 + Missense_Mutation SNP T T A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr14:26917950T>A ENST00000539517.2 - 5 1056 c.739A>T c.(739-741)Agt>Tgt p.S247C NOVA1_ENST00000465357.2_Missense_Mutation_p.S223C|NOVA1_ENST00000267422.7_Missense_Mutation_p.S125C NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 250 locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding p.S247C(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) CAGCTGCCACTTTGTGGATCC 0.448000 29 119 0 0 0.007835 0 0 SLC22A3 6581 broad.mit.edu 37 6 160864687 160864687 + Missense_Mutation SNP G G T rs9365165 TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr6:160864687G>T ENST00000392145.1 + 9 1453 c.1426G>T c.(1426-1428)Ggt>Tgt p.G476C SLC22A3_ENST00000275300.2_Missense_Mutation_p.G475C O75751 S22A3_HUMAN solute carrier family 22 (organic cation transporter), member 3 475 integral to plasma membrane|membrane fraction protein binding|quaternary ammonium group transmembrane transporter activity p.G475C(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218) OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06) GCTCTGTTCAGGTCTGTGTGA 0.388000 8 88 2.74318e-10 3.92758e-10 0.006214 1 0 CFH 3075 broad.mit.edu 37 1 196621179 196621179 + Translation_Start_Site SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:196621179C>A ENST00000367429.4 + 0 172 CFH_ENST00000439155.2_De_novo_Start_OutOfFrame NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 AATCACAATTCTTGGAAGAGG 0.368000 3 29 0.004672 0.00498289 0.004672 1 0 CYYR1 116159 broad.mit.edu 37 21 27945240 27945240 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr21:27945240G>T ENST00000299340.4 - 1 363 c.20C>A c.(19-21)cCc>cAc p.P7H CYYR1_ENST00000435845.2_Missense_Mutation_p.P115H|CYYR1_ENST00000400043.3_Missense_Mutation_p.P7H NM_052954.2 NP_443186.1 Q96J86 CYYR1_HUMAN cysteine/tyrosine-rich 1 7 integral to membrane p.P7H(1) large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 15 TGGACGCACGGGTAGCCTCGG 0.662000 11 72 3.07112e-06 3.77029e-06 0.010729 1 0 OR5B3 441608 broad.mit.edu 37 11 58170573 58170573 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr11:58170573C>A ENST00000309403.2 - 1 309 c.310G>T c.(310-312)Gct>Tct p.A104S NM_001005469.1 NP_001005469.1 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, member 3 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A104S(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1) 34 Esophageal squamous(5;0.0027) Breast(21;0.0778) GTGGCAAAAGCTACAAAGATA 0.453000 25 112 1.66031e-10 2.38307e-10 0.021523 1 0 OR6K6 128371 broad.mit.edu 37 1 158725239 158725239 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:158725239G>T ENST00000368144.2 + 1 730 c.634G>T c.(634-636)Gtg>Ttg p.V212L NM_001005184.1 NP_001005184.1 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, member 6 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V212L(1) endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) TTTCACACCTGTGCTGAGCTT 0.493000 11 87 3.86212e-05 4.48379e-05 0.008291 1 0 NRK 203447 broad.mit.edu 37 X 105150543 105150543 + Missense_Mutation SNP A A G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:105150543A>G ENST00000428173.2 + 11 1285 c.982A>G c.(982-984)Agg>Ggg p.R328G NRK_ENST00000243300.9_Missense_Mutation_p.R328G Q7Z2Y5 NRK_HUMAN Nik related kinase 328 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity p.R328G(1) breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 GTCATTAACAAGGCATCTTAC 0.303000 HNSCC(51;0.14) 2 6 0 0 0.004672 0 0 CCDC54 84692 broad.mit.edu 37 3 107096514 107096514 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr3:107096514C>A ENST00000261058.1 + 1 327 c.80C>A c.(79-81)tCt>tAt p.S27Y NM_032600.2 NP_115989.1 Q8NEL0 CCD54_HUMAN coiled-coil domain containing 54 27 p.S27Y(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 19 GTCAGACAGTCTCTTAAAAAT 0.398000 45 157 5.34276e-22 9.42743e-22 0.014410 1 0 CSMD1 64478 broad.mit.edu 37 8 2855596 2855596 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr8:2855596C>T ENST00000520002.1 - 55 8872 c.8317G>A c.(8317-8319)Ggc>Agc p.G2773S CSMD1_ENST00000602723.1_Missense_Mutation_p.G2715S|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2773S|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2715S|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2714S|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2772S Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2773 Sushi 19. integral to membrane p.G2501S(1)|p.G2772S(1) 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) CGAGACACGCCCTGCAGCAAA 0.562000 20 79 0 0 0.012319 0 0 ZFHX4 79776 broad.mit.edu 37 8 77765635 77765635 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr8:77765635C>A ENST00000521891.2 + 10 6926 c.6478C>A c.(6478-6480)Cag>Aag p.Q2160K ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q2134K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q2115K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q2115K NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2115 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.Q2144K(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AGAACAGATCCAGGAAATGGC 0.378000 HNSCC(33;0.089) 9 118 0.000442599 0.000494922 0.006214 1 0 TMEM181 57583 broad.mit.edu 37 6 159028287 159028287 + Silent SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr6:159028287G>C ENST00000367090.3 + 8 1007 c.996G>C c.(994-996)gcG>gcC p.A332A NM_020823.1 NP_065874.1 Q9P2C4 TM181_HUMAN transmembrane protein 181 332 pathogenesis integral to membrane toxin binding p.A332A(1) central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1) 22 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05) GCCTGTTTGCGCATTCCCTCC 0.532000 14 87 0 0 0.003163 0 0 IL36B 27177 broad.mit.edu 37 2 113785526 113785526 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr2:113785526C>A ENST00000327407.2 - 5 535 c.428G>T c.(427-429)aGa>aTa p.R143I IL36B_ENST00000259213.4_Intron NM_173178.1 NP_775270.1 Q9NZH7 IL36B_HUMAN interleukin 36, beta 89 immune response extracellular space cytokine activity|interleukin-1 receptor binding p.R143I(1) kidney(1)|ovary(1)|pancreas(1) 3 AGTTATGCCTCTCTCCTTGGT 0.473000 23 95 1.36565e-18 2.33129e-18 0.016522 1 0 C1QB 713 broad.mit.edu 37 1 22986035 22986035 + Missense_Mutation SNP T T G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:22986035T>G ENST00000509305.1 + 2 426 c.80T>G c.(79-81)cTc>cGc p.L27R C1QB_ENST00000314933.6_Missense_Mutation_p.L29R P02746 C1QB_HUMAN complement component 1, q subcomponent, B chain 29 complement activation, classical pathway|innate immune response collagen|complement component C1 complex p.L29R(1) breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) 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) CAGGCCCAGCTCAGCTGCACC 0.607000 9 77 0 0 0.004482 0 0 EPT1 85465 broad.mit.edu 37 2 26587740 26587740 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr2:26587740C>T ENST00000260585.7 + 3 286 c.167C>T c.(166-168)tCt>tTt p.S56F NM_033505.2 NP_277040.1 Q9C0D9 EPT1_HUMAN ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific) 56 phospholipid biosynthetic process integral to membrane ethanolaminephosphotransferase activity|metal ion binding p.S56F(1) ATAACTTTTTCTGGCTTTCTG 0.318000 14 61 0 0 0.008871 0 0 PCDH10 57575 broad.mit.edu 37 4 134071779 134071779 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr4:134071779A>T ENST00000264360.4 + 1 1310 c.484A>T c.(484-486)Acc>Tcc p.T162S NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 162 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.T162S(1) NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) CTACGAGATCACCCCCAACAG 0.622000 18 115 0 0 0.007413 0 0 C4orf36 132989 broad.mit.edu 37 4 87808958 87808958 + Silent SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr4:87808958C>G ENST00000473559.1 - 7 972 c.309G>C c.(307-309)ctG>ctC p.L103L C4orf36_ENST00000295898.3_Silent_p.L103L Q96KX1 CD036_HUMAN chromosome 4 open reading frame 36 103 p.L103L(1) breast(1)|kidney(1)|lung(1)|prostate(1) 4 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00141) GCCTTTCCCTCAGGAGAAGCT 0.413000 13 63 0 0 0.016723 0 0 ABCB1 5243 broad.mit.edu 37 7 87144598 87144598 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr7:87144598G>T ENST00000265724.3 - 26 3648 c.3231C>A c.(3229-3231)agC>agA p.S1077R ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.S1013R NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 1077 ABC transporter 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity p.S1077R(1) NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) GGACCACTGTGCTCTTCCCAC 0.572000 5 44 1.23904e-05 1.48325e-05 0.014758 1 0 PCDH8 5100 broad.mit.edu 37 13 53422541 53422541 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr13:53422541A>T ENST00000377942.3 - 1 234 c.31T>A c.(31-33)Tgc>Agc p.C11S PCDH8_ENST00000338862.4_Missense_Mutation_p.C11S NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 11 cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding p.C11S(1) breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) GGGAAAAGGCAGGGGCTGCCC 0.602000 10 84 0 0 0.010729 0 0 CDH8 1006 broad.mit.edu 37 16 61851398 61851398 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr16:61851398G>A ENST00000577390.1 - 7 2216 c.1262C>T c.(1261-1263)aCt>aTt p.T421I CDH8_ENST00000299345.6_Missense_Mutation_p.T421I|CDH8_ENST00000584337.1_Missense_Mutation_p.T421I|CDH8_ENST00000577730.1_Missense_Mutation_p.T421I NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 421 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.T421I(1) biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) AGGACTGGAAGTGATATCAGG 0.433000 7 43 0 0 0.003080 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36271365 36271365 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr19:36271365G>C ENST00000007510.4 + 8 811 c.667G>C c.(667-669)Gat>Cat p.D223H ARHGAP33_ENST00000314737.5_Missense_Mutation_p.D223H|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.D87H O14559 RHG33_HUMAN Rho GTPase activating protein 33 223 SH3. cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding p.D223H(1) endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 ACCCACAGAGGATCGGAGCTG 0.667000 4 37 0 0 0.014758 0 0 GKN1 56287 broad.mit.edu 37 2 69206066 69206066 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr2:69206066G>T ENST00000377938.2 + 4 373 c.310G>T c.(310-312)Gtc>Ttc p.V104F NM_019617.3 NP_062563.3 Q9NS71 GKN1_HUMAN gastrokine 1 104 BRICHOS. digestion|positive regulation of cell division extracellular region p.V104F(1) breast(2)|large_intestine(4)|lung(5) 11 GAACAAGGAAGTCATGCCCTC 0.408000 13 68 3.45872e-05 4.06452e-05 0.004007 1 0 MIOS 54468 broad.mit.edu 37 7 7613232 7613232 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr7:7613232G>C ENST00000340080.4 + 4 1547 c.1126G>C c.(1126-1128)Gaa>Caa p.E376Q MIOS_ENST00000405785.1_Missense_Mutation_p.E376Q NM_019005.3 NP_061878.3 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog (Drosophila) 376 p.E376Q(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TCATTTATATGAATGTACGGA 0.393000 22 130 0 0 0.012319 0 0 TNR 7143 broad.mit.edu 37 1 175362956 175362956 + Nonsense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:175362956G>T ENST00000367674.1 - 6 2024 c.1316C>A c.(1315-1317)tCa>tAa p.S439* TNR_ENST00000263525.2_Nonsense_Mutation_p.S439* NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 439 Fibronectin type-III 2. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix p.S439*(1) NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GAAGGAAAATGAGAAGGGCTC 0.458000 47 281 9.90819e-18 1.68148e-17 0.014410 1 0 CACNA1I 8911 broad.mit.edu 37 22 40055839 40055839 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr22:40055839G>T ENST00000336649.4 + 17 2604 c.2604G>T c.(2602-2604)gtG>gtT p.V868V CACNA1I_ENST00000407673.1_Silent_p.V827V|CACNA1I_ENST00000404898.1_Silent_p.V827V|CACNA1I_ENST00000400164.3_Silent_p.V827V|CACNA1I_ENST00000402142.3_Silent_p.V862V|CACNA1I_ENST00000401624.1_Silent_p.V862V Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 862 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding p.V862V(1)|p.V827V(1) breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) CCATCCTGGTGGAGGGCTTCC 0.622000 13 97 7.03913e-09 9.60183e-09 0.013537 1 0 TNFRSF21 27242 broad.mit.edu 37 6 47251938 47251938 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr6:47251938G>C ENST00000296861.2 - 3 1372 c.979C>G c.(979-981)Ccc>Gcc p.P327A NM_014452.3 NP_055267.1 O75509 TNR21_HUMAN tumor necrosis factor receptor superfamily, member 21 327 cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity p.P327A(1) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2) 21 Lung(136;0.189) CCCTTGATGGGCGTGCTGGAC 0.552000 30 243 0 0 0.009535 0 0 SCN4A 6329 broad.mit.edu 37 17 62049513 62049513 + Silent SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr17:62049513G>C ENST00000578147.1 - 3 541 c.465C>G c.(463-465)ccC>ccG p.P155P SCN4A_ENST00000435607.1_Silent_p.P155P P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 155 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity p.P155P(1) breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) TCTTGGACCAGGGAGGCGGGT 0.552000 4 24 0 0 0.021553 0 0 RUNX1T1 862 broad.mit.edu 37 8 92998367 92998367 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr8:92998367C>G ENST00000523629.1 - 9 1718 c.1264G>C c.(1264-1266)Gac>Cac p.D422H RUNX1T1_ENST00000422361.2_Missense_Mutation_p.D385H|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.D433H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.D395H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.D385H|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.D422H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.D395H|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.D385H NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 422 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.D422H(1)|p.D385H(1)|p.D433H(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) GCAACTGGGTCTGGGTTGACG 0.428000 16 147 0 0 0.004990 0 0 LTF 4057 broad.mit.edu 37 3 46485038 46485038 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr3:46485038C>A ENST00000231751.4 - 13 1844 c.1549G>T c.(1549-1551)Gac>Tac p.D517Y LTF_ENST00000417439.1_Missense_Mutation_p.D515Y|LTF_ENST00000426532.2_Missense_Mutation_p.D473Y NM_002343.3 NP_002334.2 P02788 TRFL_HUMAN lactotransferrin 517 Transferrin-like 2. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity p.D517Y(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 40 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) GATCTCGGGTCAGACCCAGGG 0.517000 16 169 4.7546e-09 6.50096e-09 0.004007 1 0 XCL1 6375 broad.mit.edu 37 1 168550395 168550395 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:168550395G>T ENST00000367818.3 + 3 447 c.282G>T c.(280-282)atG>atT p.M94I NM_002995.2 NP_002986.1 P47992 XCL1_HUMAN chemokine (C motif) ligand 1 94 CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production extracellular space chemokine activity|protein homodimerization activity p.M94I(1) kidney(2)|lung(7)|upper_aerodigestive_tract(1) 10 all_hematologic(923;0.208) GAAATAACATGATCCAGACCA 0.527000 10 48 4.68919e-08 6.17731e-08 0.008291 1 0 SLC18A2 6571 broad.mit.edu 37 10 119015006 119015006 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr10:119015006G>T ENST00000298472.5 + 8 950 c.807G>T c.(805-807)gtG>gtT p.V269V SLC18A2_ENST00000497497.1_3'UTR NM_003054.4 NP_003045.2 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 2 269 neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity p.V269V(1) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16) 29 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) AGCTCTTTGTGCTCCAGCCGT 0.542000 15 59 1.15088e-07 1.47897e-07 0.004007 1 0 OR5D18 219438 broad.mit.edu 37 11 55587648 55587648 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr11:55587648G>A ENST00000333976.4 + 1 563 c.543G>A c.(541-543)gaG>gaA p.E181E NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 181 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E181E(1) NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) TCTTCTGTGAGTTCTCCTCAC 0.428000 28 217 0 0 0.007291 0 0 PSMD12 5718 broad.mit.edu 37 17 65340804 65340804 + Missense_Mutation SNP T T C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr17:65340804T>C ENST00000356126.3 - 9 1108 c.1001A>G c.(1000-1002)gAg>gGg p.E334G PSMD12_ENST00000357146.4_Missense_Mutation_p.E314G NM_002816.3 NP_002807.1 O00232 PSD12_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 334 PCI. 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 regulatory particle protein binding p.E334G(1) breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1) 13 all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13) TGCAGGACTCTCAAGGGAACC 0.393000 15 90 0 0 0.004007 0 0 HSP90AA1 3320 broad.mit.edu 37 14 102551666 102551666 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr14:102551666G>A ENST00000334701.7 - 5 1279 c.998C>T c.(997-999)tCt>tTt p.S333F HSP90AA1_ENST00000441629.2_Missense_Mutation_p.S32F|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.S211F NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 211 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding p.S333F(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) AATAAACTGAGAATGTTTCTT 0.378000 9 47 0 0 0.006214 0 0 OR2T11 127077 broad.mit.edu 37 1 248790155 248790155 + Missense_Mutation SNP A A C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:248790155A>C ENST00000330803.2 - 1 336 c.275T>G c.(274-276)gTg>gGg p.V92G NM_001001964.1 NP_001001964.1 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene) 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V92G(1) breast(1)|large_intestine(5)|lung(20)|skin(2) 28 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) GCCACAGGCCACAAAGGAAAT 0.498000 12 61 0 0 0.013537 0 0 MUC17 140453 broad.mit.edu 37 7 100680394 100680394 + Silent SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr7:100680394C>A ENST00000306151.4 + 3 5761 c.5697C>A c.(5695-5697)acC>acA p.T1899T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1899 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.T1900P(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CACCTGTGACCACTTATGCTC 0.498000 60 446 1.12357e-39 2.13257e-39 0.014410 1 0 OBSCN 84033 broad.mit.edu 37 1 228548137 228548137 + Missense_Mutation SNP T T C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:228548137T>C ENST00000284548.11 + 81 19618 c.19544T>C c.(19543-19545)cTc>cCc p.L6515P OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.L3634P|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366707.4_Intron Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 0 Protein kinase 1. 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 p.L6515P(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CCTGTGCTGCTCAGCGTGGGG 0.701000 4 28 0 0 0.004482 0 0 AFF2 2334 broad.mit.edu 37 X 148037249 148037249 + Silent SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:148037249G>C ENST00000370460.2 + 11 2153 c.1674G>C c.(1672-1674)ctG>ctC p.L558L AFF2_ENST00000286437.5_Silent_p.L199L|AFF2_ENST00000342251.3_Silent_p.L525L|AFF2_ENST00000370457.5_Silent_p.L525L NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 558 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding p.L558L(4)|p.L199L(2) breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) CTATTTCTCTGCCTCCTCCAA 0.458000 103 520 0 0 0.014410 0 0 FAM135B 51059 broad.mit.edu 37 8 139268931 139268931 + Splice_Site SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr8:139268931C>A ENST00000395297.1 - 5 539 c.e5+1 NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B p.?(2) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 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) ATGACACTCACTGCTGTTCAC 0.463000 HNSCC(54;0.14) 10 58 4.68919e-08 6.17731e-08 0.008291 1 0 PEAR1 375033 broad.mit.edu 37 1 156877441 156877441 + Silent SNP C C T rs148520058 byFrequency TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:156877441C>T ENST00000338302.3 + 8 909 c.684C>T c.(682-684)ttC>ttT p.F228F PEAR1_ENST00000292357.7_Silent_p.F228F Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 228 EGF-like 2. integral to membrane p.F228F(1) breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTGGCTTCTTCTGCCCCAGCA 0.582000 85 321 0 0 0.014410 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 63 0 0 0.004672 0 0 NLRP10 338322 broad.mit.edu 37 11 7981815 7981815 + Silent SNP A A G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr11:7981815A>G ENST00000328600.2 - 2 1505 c.1344T>C c.(1342-1344)agT>agC p.S448S NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 448 NACHT. ATP binding p.S448S(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) AGTCGTTACTACTCAGGAAAG 0.483000 27 165 0 0 0.006320 0 0 METTL17 64745 broad.mit.edu 37 14 21458201 21458201 + Missense_Mutation SNP T T C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr14:21458201T>C ENST00000339374.6 + 1 273 c.40T>C c.(40-42)Tgg>Cgg p.W14R METTL17_ENST00000382985.4_Missense_Mutation_p.W14R|METTL17_ENST00000555177.1_3'UTR|METTL17_ENST00000556670.2_Missense_Mutation_p.W14R NM_001029991.1|NM_022734.2 NP_001025162.1|NP_073571.1 Q9H7H0 MET17_HUMAN methyltransferase like 17 14 translation mitochondrion|ribosome copper ion binding|methyltransferase activity p.W14R(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2) 20 ATTAGGAAGATGGTGCCCCGG 0.622000 11 66 0 0 0.004656 0 0 MACF1 23499 broad.mit.edu 37 1 39945556 39945556 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:39945556G>T ENST00000564288.1 + 98 22822 c.22045G>T c.(22045-22047)Ggt>Tgt p.G7349C MACF1_ENST00000545844.1_Missense_Mutation_p.G5261C|MACF1_ENST00000361689.2_Missense_Mutation_p.G5261C|MACF1_ENST00000317713.7_Missense_Mutation_p.G5261C|MACF1_ENST00000539005.1_Missense_Mutation_p.G5131C|MACF1_ENST00000289893.4_Missense_Mutation_p.G5769C|MACF1_ENST00000567887.1_Missense_Mutation_p.G7386C|MACF1_ENST00000372915.3_Missense_Mutation_p.G7219C Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 7219 C-terminal tail (By similarity).|Ser-rich. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding p.G5769C(1)|p.G5261C(1) breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) 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) CCGCTCACGGGGTCGAAGGTC 0.512000 41 67 6.5261e-18 1.11079e-17 0.008740 1 0 FAM211A 388341 broad.mit.edu 37 17 16347377 16347377 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr17:16347377G>A ENST00000470794.1 - 4 587 c.560C>T c.(559-561)tCc>tTc p.S187F C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|FAM211A_ENST00000409083.3_Silent_p.L148L|C17orf76-AS1_ENST00000584177.1_RNA NM_001113567.2 NP_001107039.1 Q8NAA5 CQ076_HUMAN family with sequence similarity 211, member A 187 p.S187F(2)|p.L101L(1) lung(1) 1 CAGGTCTCGGGAGGTCAGTGG 0.622000 4 24 0 0 0.009096 0 0 SERPINB13 5275 broad.mit.edu 37 18 61262397 61262397 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr18:61262397C>T ENST00000344731.5 + 7 852 c.750C>T c.(748-750)aaC>aaT p.N250N SERPINB13_ENST00000269489.5_Intron NM_012397.3 NP_036529.1 Q9UIV8 SPB13_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 13 250 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity p.N250N(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 TTCTGCCCAACGACATCGATG 0.458000 10 226 0 0 0.020292 0 0 FUT9 10690 broad.mit.edu 37 6 96651063 96651063 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr6:96651063C>A ENST00000302103.5 + 3 358 c.32C>A c.(31-33)cCa>cAa p.P11Q NM_006581.3 NP_006572.2 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) fucosyltransferase) 11 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity p.P11Q(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) ATTCTTCGCCCATTTTTAATT 0.403000 9 151 1.12685e-05 1.3574e-05 0.004482 1 0 NPM1 4869 broad.mit.edu 37 5 170819801 170819801 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr5:170819801G>A ENST00000296930.5 + 5 741 c.440G>A c.(439-441)gGt>gAt p.G147D NPM1_ENST00000517671.1_Missense_Mutation_p.G147D|NPM1_ENST00000351986.6_Missense_Mutation_p.G147D|NPM1_ENST00000393820.2_Missense_Mutation_p.G147D NM_002520.6 NP_002511.1 P06748 NPM_HUMAN nucleophosmin (nucleolar phosphoprotein B23, numatrin) 147 Required for interaction with SENP3. anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding p.G147D(2) NPM1/ALK(632) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 4269 Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GCCCCTGGAGGTGGTAGCAAG 0.408000 """T, F """ """ALK, RARA, MLF1""" """NHL, APL, AML""" 18 264 0 0 0.018920 0 0 HTR2C 3358 broad.mit.edu 37 X 114141546 114141546 + Silent SNP T T A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:114141546T>A ENST00000276198.1 + 6 1673 c.945T>A c.(943-945)atT>atA p.I315I HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Silent_p.I315I NM_000868.2 NP_000859.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 315 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity p.I315I(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) TCCTTGGGATTGTTTTCTTTG 0.433000 10 298 0 0 0.006214 0 0 GPR116 221395 broad.mit.edu 37 6 46826344 46826344 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr6:46826344C>A ENST00000283296.7 - 17 3584 c.3296G>T c.(3295-3297)aGc>aTc p.S1099I GPR116_ENST00000456426.2_Missense_Mutation_p.S957I|GPR116_ENST00000362015.4_Missense_Mutation_p.S1099I|GPR116_ENST00000265417.7_Missense_Mutation_p.S1099I|GPR116_ENST00000545669.1_Missense_Mutation_p.S528I NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 1099 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.S1099I(1) breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) GAAGAAGACGCTGAGGTAGAA 0.512000 5 45 0.00116845 0.00127447 0.021553 1 0 STARD8 9754 broad.mit.edu 37 X 67941413 67941413 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:67941413G>T ENST00000252336.6 + 9 2416 c.2044G>T c.(2044-2046)Gcc>Tcc p.A682S STARD8_ENST00000374597.3_Missense_Mutation_p.A682S|STARD8_ENST00000374599.3_Missense_Mutation_p.A762S NM_014725.4 NP_055540.2 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain containing 8 682 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity p.A682S(2)|p.A762S(1) NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 50 AGCAGCACAAGCCGCCACCTT 0.562000 19 88 3.51602e-12 5.45361e-12 0.008871 1 0 PKP2 5318 broad.mit.edu 37 12 33031935 33031935 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr12:33031935C>A ENST00000340811.4 - 2 363 c.255G>T c.(253-255)gaG>gaT p.E85D PKP2_ENST00000070846.6_Missense_Mutation_p.E85D NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 85 cell-cell adhesion desmosome|integral to membrane|nucleus binding p.E85D(1) NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) TGTAGACATACTCAGGAACAC 0.363000 17 130 7.45023e-12 1.14026e-11 0.010504 1 0 ZFHX4 79776 broad.mit.edu 37 8 77618316 77618316 + Nonsense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr8:77618316G>T ENST00000521891.2 + 2 2441 c.1993G>T c.(1993-1995)Gag>Tag p.E665* ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.E665*|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.E665*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.E665* NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 665 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E665*(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CCATATGAAGGAGAAACACCC 0.498000 HNSCC(33;0.089) 10 66 0.00829132 0.00876207 0.008291 1 0 KCNG1 3755 broad.mit.edu 37 20 49626462 49626462 + Silent SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr20:49626462C>A ENST00000371571.4 - 2 699 c.414G>T c.(412-414)ctG>ctT p.L138L RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000396017.3_Silent_p.L138L NM_002237.3 NP_002228.2 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, member 1 138 voltage-gated potassium channel complex voltage-gated potassium channel activity p.L138L(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 TCTCGCGCAGCAGCCGCAGCT 0.657000 9 53 1.08611e-07 1.40198e-07 0.010729 1 0 CYP27A1 1593 broad.mit.edu 37 2 219679287 219679287 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr2:219679287A>T ENST00000258415.4 + 8 1710 c.1283A>T c.(1282-1284)cAc>cTc p.H428L NM_000784.3 NP_000775.1 Q02318 CP27A_HUMAN cytochrome P450, family 27, subfamily A, polypeptide 1 428 bile acid biosynthetic process|xenobiotic metabolic process mitochondrial matrix cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding p.H428L(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1) 26 Renal(207;0.0474) Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981) Cholecalciferol(DB00169) GTGTTCTGCCACTATGTGGTG 0.592000 29 140 0 0 0.006320 0 0 SLC23A1 9963 broad.mit.edu 37 5 138714949 138714949 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr5:138714949G>A ENST00000353963.3 - 9 1070 c.1032C>T c.(1030-1032)taC>taT p.Y344Y SLC23A1_ENST00000348729.3_Silent_p.Y340Y NM_152685.3 NP_689898.2 Q9UHI7 S23A1_HUMAN solute carrier family 23 (ascorbic acid transporter), member 1 340 brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity p.Y344Y(1) biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1) 19 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) Vitamin C(DB00126) GGGCACAGGCGTAGTAATCTC 0.617000 26 115 0 0 0.006320 0 0 FAT1 2195 broad.mit.edu 37 4 187538323 187538323 + Missense_Mutation SNP T T C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr4:187538323T>C ENST00000441802.2 - 11 9120 c.8911A>G c.(8911-8913)Act>Gct p.T2971A NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2971 Cadherin 27. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding p.T2974A(1)|p.T2971A(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TTCTGTATAGTTTCAACGGCA 0.358000 HNSCC(5;0.00058) 16 65 0 0 0.004990 0 0 FAT3 120114 broad.mit.edu 37 11 92533884 92533884 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr11:92533884A>T ENST00000298047.6 + 9 7722 c.7705A>T c.(7705-7707)Agt>Tgt p.S2569C FAT3_ENST00000409404.2_Missense_Mutation_p.S2569C|FAT3_ENST00000525166.1_Missense_Mutation_p.S2419C Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2569 Cadherin 23. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.S2569C(2) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGGGGATGTTAGTATTTTTGT 0.473000 TCGA Ovarian(4;0.039) 10 50 0 0 0.008291 0 0 USP24 23358 broad.mit.edu 37 1 55566576 55566576 + Missense_Mutation SNP T T A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:55566576T>A ENST00000294383.6 - 44 5206 c.5207A>T c.(5206-5208)cAg>cTg p.Q1736L USP24_ENST00000407756.1_Missense_Mutation_p.Q1576L NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 1736 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity p.Q1736L(1)|p.Q1653L(1) breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 AAAGAGAGACTGCACTTGGTA 0.363000 8 64 0 0 0.004482 0 0 CBLN2 147381 broad.mit.edu 37 18 70205992 70205992 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr18:70205992C>A ENST00000269503.4 - 4 1146 c.373G>T c.(373-375)Ggc>Tgc p.G125C CBLN2_ENST00000583651.1_5'UTR|CBLN2_ENST00000584764.1_Missense_Mutation_p.G9C|CBLN2_ENST00000585159.1_Missense_Mutation_p.G125C|CBLN2_ENST00000581073.1_Missense_Mutation_p.G11C NM_182511.3 NP_872317.1 Q8IUK8 CBLN2_HUMAN cerebellin 2 precursor 125 C1q. integral to membrane p.G125F(1) endometrium(2)|lung(15) 17 Esophageal squamous(42;0.131) AAGTGGTTGCCAATATTTACT 0.418000 14 99 7.93312e-07 9.97257e-07 0.020292 1 0 ARHGAP36 158763 broad.mit.edu 37 X 130220349 130220349 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:130220349C>T ENST00000276211.5 + 10 1673 c.1328C>T c.(1327-1329)tCc>tTc p.S443F ARHGAP36_ENST00000370922.1_Missense_Mutation_p.S431F|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.S307F NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 443 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.S443F(1) breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 GTGTGGAAGTCCAGCCCGGAA 0.463000 11 106 0 0 0.010729 0 0 SI 6476 broad.mit.edu 37 3 164710138 164710138 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr3:164710138C>A ENST00000264382.3 - 42 4951 c.4889G>T c.(4888-4890)tGg>tTg p.W1630L NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1630 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity p.W1630L(1) NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TGCTGGACCCCATAAGAACTG 0.323000 HNSCC(35;0.089) 4 28 0.000602214 0.000668226 0.014758 1 0 SVEP1 79987 broad.mit.edu 37 9 113148345 113148345 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr9:113148345C>A ENST00000401783.2 - 43 10406 c.10070G>T c.(10069-10071)tGc>tTc p.C3357F SVEP1_ENST00000374469.1_Missense_Mutation_p.C3334F|SVEP1_ENST00000297826.5_Missense_Mutation_p.C1283F NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 3357 Sushi 33. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding p.C3360F(1) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 AGGAACAGGGCATGGATTTGC 0.388000 22 84 1.10923e-09 1.53853e-09 0.016522 1 0 RALGAPA1 253959 broad.mit.edu 37 14 36097026 36097026 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr14:36097026G>A ENST00000258840.6 - 34 5140 c.4750C>T c.(4750-4752)Cac>Tac p.H1584Y RALGAPA1_ENST00000382366.3_Missense_Mutation_p.H1550Y|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.H1537Y|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.H1537Y Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 1537 Minimal domain that binds to TCF3/E12 (By similarity). activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity p.H1537Y(2) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TGATTGTCGTGATTTTCACAC 0.413000 26 78 0 0 0.012213 0 0 BIN2 51411 broad.mit.edu 37 12 51685619 51685619 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr12:51685619G>T ENST00000267012.4 - 10 1332 c.1271C>A c.(1270-1272)gCa>gAa p.A424E BIN2_ENST00000604560.1_Missense_Mutation_p.A397E|BIN2_ENST00000452142.2_Missense_Mutation_p.A392E|BIN2_ENST00000544402.1_Missense_Mutation_p.A398E NM_016293.2 NP_057377.2 Q9UBW5 BIN2_HUMAN bridging integrator 2 424 Pro-rich. cytoplasm protein binding p.A424E(1) NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 CCTGGGGCTTGCAGTGGCTCT 0.617000 5 111 0.0215528 0.0224071 0.021553 1 0 SF3B2 10992 broad.mit.edu 37 11 65829421 65829421 + Silent SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr11:65829421A>T ENST00000528302.1 + 15 1932 c.1878A>T c.(1876-1878)ccA>ccT p.P626P SF3B2_ENST00000322535.6_Silent_p.P643P Q13435 SF3B2_HUMAN splicing factor 3b, subunit 2, 145kDa 643 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding p.P643P(1) breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 GACCACCCCCATCGTATCCCA 0.517000 4 38 0 0 0.009096 0 0 KLHL2 11275 broad.mit.edu 37 4 166231704 166231704 + Splice_Site SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr4:166231704G>T ENST00000226725.6 + 10 1298 c.e10-1 KLHL2_ENST00000514860.1_Splice_Site|KLHL2_ENST00000509028.1_Splice_Site|KLHL2_ENST00000421009.2_Splice_Site|KLHL2_ENST00000506761.1_Splice_Site|KLHL2_ENST00000538127.1_Splice_Site NM_007246.3 NP_009177.3 O95198 KLHL2_HUMAN kelch-like family member 2 intracellular protein transport actin cytoskeleton|cytoplasm actin binding|transporter activity p.?(1) endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1) 14 all_hematologic(180;0.221) GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927) TCCTTTTGCAGGCATGGTCTA 0.423000 61 317 7.07328e-35 1.32509e-34 0.014410 1 0 IGSF1 3547 broad.mit.edu 37 X 130407900 130407900 + Nonsense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:130407900G>T ENST00000370904.1 - 26 4764 c.3854C>A c.(3853-3855)tCa>tAa p.S1285* IGSF1_ENST00000361420.3_Nonsense_Mutation_p.S1294*|IGSF1_ENST00000370910.1_Nonsense_Mutation_p.S1285*|IGSF1_ENST00000370903.3_Nonsense_Mutation_p.S1299* Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 1294 regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding p.S1294*(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 GTCTGTCTCTGAGCCTCTATG 0.478000 41 388 1.62957e-23 2.92007e-23 0.008740 1 0 CAT 847 broad.mit.edu 37 11 34478335 34478335 + Missense_Mutation SNP A A G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr11:34478335A>G ENST00000241052.4 + 8 1116 c.1027A>G c.(1027-1029)Att>Gtt p.I343V NM_001752.3 NP_001743.1 P04040 CATA_HUMAN catalase 343 hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection peroxisomal matrix|peroxisomal membrane catalase activity|heme binding|NADP binding|protein homodimerization activity p.I343V(1) breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3) 26 Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027) BRCA - Breast invasive adenocarcinoma(625;0.000995) Fomepizole(DB01213) GCCACCTGGCATTGAGGCCAG 0.478000 12 75 0 0 0.010729 0 0 CLSTN1 22883 broad.mit.edu 37 1 9801204 9801204 + Silent SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:9801204C>A ENST00000377298.4 - 10 2259 c.1467G>T c.(1465-1467)ccG>ccT p.P489P CLSTN1_ENST00000361311.4_Silent_p.P479P|CLSTN1_ENST00000377288.3_Silent_p.P489P NM_001009566.1 NP_001009566.1 O94985 CSTN1_HUMAN calsyntenin 1 489 homophilic cell adhesion cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane calcium ion binding p.P489P(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 all_lung(157;0.222) all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) ATGGATGGAGCGGGTAATCCT 0.537000 26 124 3.1745e-13 5.01831e-13 0.008361 1 0 DACT1 51339 broad.mit.edu 37 14 59112403 59112403 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr14:59112403G>T ENST00000395153.3 + 4 1098 c.951G>T c.(949-951)agG>agT p.R317S DACT1_ENST00000335867.4_Missense_Mutation_p.R354S|DACT1_ENST00000541264.2_Missense_Mutation_p.R73S|DACT1_ENST00000556859.1_Missense_Mutation_p.R73S|DACT1_ENST00000395151.3_Missense_Mutation_p.R73S NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 354 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus p.R354S(1) endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 ACCCTGTAAGGACCAACAAAC 0.552000 14 67 0.00244969 0.00265192 0.020292 1 0 KIAA1755 85449 broad.mit.edu 37 20 36869629 36869629 + Missense_Mutation SNP A A C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr20:36869629A>C ENST00000279024.4 - 3 1175 c.904T>G c.(904-906)Tct>Gct p.S302A NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 302 p.S302A(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) AGTGCCCCAGAAGTACACCCA 0.522000 20 337 0 0 0.008871 0 0 SYTL4 94121 broad.mit.edu 37 X 99943410 99943410 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:99943410G>T ENST00000372981.1 - 10 1129 c.943C>A c.(943-945)Cac>Aac p.H315N SYTL4_ENST00000455616.1_Missense_Mutation_p.H315N|SYTL4_ENST00000372989.1_Missense_Mutation_p.H315N|SYTL4_ENST00000454200.2_Missense_Mutation_p.H317N|SYTL4_ENST00000263033.5_Missense_Mutation_p.H315N|SYTL4_ENST00000276141.6_Missense_Mutation_p.H315N Q96C24 SYTL4_HUMAN synaptotagmin-like 4 315 exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding p.H315N(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TTCACTAGGTGGTCAATGtct 0.388000 11 87 3.07112e-06 3.77029e-06 0.010729 1 0 FAM27L 284123 broad.mit.edu 37 17 21826233 21826233 + RNA SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr17:21826233G>A ENST00000426869.3 + 0 416 NR_028336.1 family with sequence similarity 27-like p.R71Q(1)|p.R71L(1) central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463) GCCACACCACGATACAGTCTT 0.542000 10 55 0 0 0.010729 0 0 IFIH1 64135 broad.mit.edu 37 2 163133444 163133444 + Missense_Mutation SNP A A G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr2:163133444A>G ENST00000263642.2 - 11 2452 c.2057T>C c.(2056-2058)aTg>aCg p.M686T NM_022168.3 NP_071451.2 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 686 detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding p.M686T(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 39 CCTTTTCAACATTTTATTGTT 0.318000 17 98 0 0 0.004990 0 0 FLG2 388698 broad.mit.edu 37 1 152331316 152331316 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:152331316G>C ENST00000388718.5 - 2 117 c.45C>G c.(43-45)ttC>ttG p.F15L FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 15 EF-hand 1.|S-100-like (By similarity). calcium ion binding|structural molecule activity p.F15L(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTATTTGTAGAAAACATCAA 0.423000 20 147 0 0 0.008871 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68249881 68249881 + Missense_Mutation SNP T T A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr14:68249881T>A ENST00000347230.4 - 21 4126 c.3988A>T c.(3988-3990)Agc>Tgc p.S1330C ZFYVE26_ENST00000555452.1_Missense_Mutation_p.S1330C NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1330 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding p.S1330C(1) NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) CTGGGTTTGCTGACCTTTAAC 0.597000 18 192 0 0 0.012319 0 0 KCTD8 386617 broad.mit.edu 37 4 44177010 44177010 + Missense_Mutation SNP G G A rs143160739 TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr4:44177010G>A ENST00000360029.3 - 2 1502 c.1219C>T c.(1219-1221)Cgc>Tgc p.R407C NM_198353.2 NP_938167.1 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerization domain containing 8 407 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity p.R407S(1)|p.R407C(1) central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4) 41 CTGTTTCTGCGTTTGTCTGGT 0.463000 HNSCC(17;0.042) 46 276 0 0 0.014410 0 0 OR2G2 81470 broad.mit.edu 37 1 247751927 247751927 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:247751927G>T ENST00000320065.1 + 1 266 c.266G>T c.(265-267)tGg>tTg p.W89L RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA NM_001001915.1 NP_001001915.1 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, member 2 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.W89L(1) endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GTAAACCTGTGGGAACCCATG 0.522000 22 181 1.50039e-11 2.24864e-11 0.012319 1 0 TRIOBP 11078 broad.mit.edu 37 22 38121216 38121216 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr22:38121216C>T ENST00000406386.3 + 7 2908 c.2653C>T c.(2653-2655)Cgc>Tgc p.R885C RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 885 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.R885C(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) ATCTCCCCACCGCTCCACTCA 0.532000 15 330 0 0 0.003163 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 3 75 0 0 0.004672 0 0 MAGEB18 286514 broad.mit.edu 37 X 26157899 26157899 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:26157899G>C ENST00000325250.1 + 2 984 c.797G>C c.(796-798)cGc>cCc p.R266P NM_173699.3 NP_775970.1 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 266 MAGE. protein binding p.R266P(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2) 33 GATCCTCCACGCTATGAATTC 0.498000 6 34 0 0 0.001984 0 0 PIK3R4 30849 broad.mit.edu 37 3 130463491 130463491 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr3:130463491C>A ENST00000356763.3 - 2 1129 c.572G>T c.(571-573)cGg>cTg p.R191L NM_014602.2 NP_055417.1 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 191 Protein kinase. fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity p.R191L(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 77 AGTTCTCCTCCGTGATGTGTC 0.413000 11 86 3.07112e-06 3.77029e-06 0.010729 1 0 EPN1 29924 broad.mit.edu 37 19 56203235 56203235 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr19:56203235C>G ENST00000411543.2 + 7 1683 c.1136C>G c.(1135-1137)tCg>tGg p.S379W EPN1_ENST00000085079.7_Missense_Mutation_p.S268W|EPN1_ENST00000270460.6_Missense_Mutation_p.S293W NM_001130071.1 NP_001123543.1 Q9Y6I3 EPN1_HUMAN epsin 1 293 8 X 3 AA repeats of [ED]-P-W.|Ala/Gly/Pro-rich. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding p.S379W(1)|p.S293W(1) endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 17 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) GCCCCCACCTCGGACCCCTGG 0.751000 4 59 0 0 0.021553 0 0 PRR23B 389151 broad.mit.edu 37 3 138738865 138738865 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr3:138738865G>T ENST00000329447.5 - 1 903 c.639C>A c.(637-639)ccC>ccA p.P213P MRPS22_ENST00000495075.1_Intron NM_001013650.2 NP_001013672.1 Q6ZRT6 PR23B_HUMAN proline rich 23B 213 Pro-rich. p.P213P(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GGTCAAAGATGGGGCGTGGAG 0.627000 4 84 0.00024832 0.000282049 0.009096 1 0 AMER2 219287 broad.mit.edu 37 13 25744119 25744119 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr13:25744119G>T ENST00000357816.2 - 3 1757 c.1282C>A c.(1282-1284)Cgg>Agg p.R428R AMER2_ENST00000515384.1_Silent_p.R547R|AMER2_ENST00000381853.3_Silent_p.R428R APC membrane recruitment protein 2 p.R428R(1)|p.R547R(1) TAGCTATCCCGGGGGATGCCC 0.642000 14 94 4.36969e-10 6.14954e-10 0.016723 1 0 PLEKHA7 144100 broad.mit.edu 37 11 16872832 16872832 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr11:16872832C>A ENST00000355661.3 - 8 612 c.602G>T c.(601-603)cGa>cTa p.R201L PLEKHA7_ENST00000531066.1_Missense_Mutation_p.R201L|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.R201L|PLEKHA7_ENST00000532079.1_Intron Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 201 PH. epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding p.R201L(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 CGCTTCTTCTCGGCTGTCTTT 0.522000 18 94 9.16793e-09 1.24762e-08 0.004990 1 0 PRRC2A 7916 broad.mit.edu 37 6 31597577 31597577 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr6:31597577G>T ENST00000376033.2 + 14 2443 c.2209G>T c.(2209-2211)Ggt>Tgt p.G737C PRRC2A_ENST00000376007.4_Missense_Mutation_p.G737C NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 737 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding p.G737C(1) breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 GCTCCTCCAGGGTCGTCCCCC 0.592000 16 99 4.7546e-09 6.50096e-09 0.004007 1 0 TAF1L 138474 broad.mit.edu 37 9 32633637 32633637 + Silent SNP G G C rs34334113 TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr9:32633637G>C ENST00000242310.4 - 1 2030 c.1941C>G c.(1939-1941)ctC>ctG p.L647L RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 647 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 p.L647L(1) breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CTGGCTGAGAGAGTGCACCAA 0.502000 48 155 0 0 0.014410 0 0 ASTN1 460 broad.mit.edu 37 1 177001817 177001817 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:177001817G>T ENST00000367654.2 - 3 653 c.640C>A c.(640-642)Cgg>Agg p.R214R ASTN1_ENST00000361833.2_Silent_p.R214R|ASTN1_ENST00000424564.2_Silent_p.R214R|ASTN1_ENST00000367657.3_Silent_p.R214R|ASTN1_ENST00000281881.3_5'UTR O14525 ASTN1_HUMAN astrotactin 1 214 cell migration|neuron cell-cell adhesion integral to membrane p.R214R(1) NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 AGGCTCTCCCGTCCGTGCCCG 0.622000 5 38 0.000157383 0.000179113 0.003080 1 0 DUSP22 56940 broad.mit.edu 37 6 348228 348228 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr6:348228G>A ENST00000604971.1 + 3 1193 c.80G>A c.(79-81)gGc>gAc p.G27D DUSP22_ENST00000419235.2_Missense_Mutation_p.G130D|DUSP22_ENST00000603453.1_Missense_Mutation_p.G27D|DUSP22_ENST00000605863.1_Missense_Mutation_p.G27D|DUSP22_ENST00000605315.1_Missense_Mutation_p.G27D|DUSP22_ENST00000344450.5_Missense_Mutation_p.G130D|DUSP22_ENST00000605035.1_Missense_Mutation_p.G27D Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 130 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 p.G130D(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2) 26 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) CCCAACGTGGGCTTCCAGAGA 0.572000 12 240 0 0 0.020292 0 0 FCRL2 79368 broad.mit.edu 37 1 157739662 157739662 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:157739662C>A ENST00000361516.3 - 4 637 c.589G>T c.(589-591)Gtg>Ttg p.V197L FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Missense_Mutation_p.V197L NM_030764.3 NP_110391.2 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 197 cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity p.V197L(1) central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2) 51 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TTGCTCTGCACGTGAATCTGG 0.473000 12 137 4.14922e-12 6.41849e-12 0.004007 1 0 POLR1B 84172 broad.mit.edu 37 2 113299993 113299993 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr2:113299993G>T ENST00000541869.1 + 2 152 c.36G>T c.(34-36)cgG>cgT p.R12R POLR1B_ENST00000409894.3_5'UTR|POLR1B_ENST00000263331.5_5'UTR Q9H9Y6 RPA2_HUMAN polymerase (RNA) I polypeptide B, 128kDa 0 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 CGGGACTGCGGCCACTACTTC 0.642000 11 52 3.86212e-05 4.48379e-05 0.008291 1 0 GRM4 2914 broad.mit.edu 37 6 33995926 33995926 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr6:33995926G>T ENST00000374181.3 - 9 2829 c.2660C>A c.(2659-2661)tCt>tAt p.S887Y GRM4_ENST00000535756.1_Missense_Mutation_p.S754Y|GRM4_ENST00000544773.1_Missense_Mutation_p.S718Y|GRM4_ENST00000455714.2_Missense_Mutation_p.S747Y|GRM4_ENST00000538487.1_Missense_Mutation_p.S887Y|GRM4_ENST00000374177.3_Missense_Mutation_p.S771Y|GRM4_ENST00000545715.1_Missense_Mutation_p.S579Y NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 887 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.S887Y(2)|p.S771Y(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) GCAGAGCTCAGACTTGGCCTC 0.652000 11 56 1.08611e-07 1.40198e-07 0.010729 1 0 CLCNKA 1187 broad.mit.edu 37 1 16355272 16355272 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:16355272G>A ENST00000375692.1 + 12 1113 c.985G>A c.(985-987)Gct>Act p.A329T CLCNKA_ENST00000439316.2_Missense_Mutation_p.A286T|CLCNKA_ENST00000420078.1_Missense_Mutation_p.A329T|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000331433.4_Missense_Mutation_p.A329T P51800 CLCKA_HUMAN chloride channel, voltage-sensitive Ka 329 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity p.A329T(1) breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) TGTGTACTCCGCTCTGGCCAC 0.642000 8 206 0 0 0.004482 0 0 DDX60 55601 broad.mit.edu 37 4 169201524 169201524 + Missense_Mutation SNP C C A rs137933604 TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr4:169201524C>A ENST00000393743.3 - 14 2231 c.1940G>T c.(1939-1941)tGc>tTc p.C647F NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 647 ATP binding|ATP-dependent helicase activity|RNA binding p.C647F(2) breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) GGCTTTCAAGCAAGCAGTTAA 0.358000 18 164 1.45105e-14 2.34526e-14 0.006122 1 0 ASB15 142685 broad.mit.edu 37 7 123254559 123254559 + Translation_Start_Site SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr7:123254559G>T ENST00000451558.1 + 6 524 c.3G>T c.(1-3)atG>atT p.M1I RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000275699.3_Start_Codon_SNP_p.M1I|ASB15_ENST00000434204.1_Start_Codon_SNP_p.M1I|ASB15_ENST00000451215.1_Start_Codon_SNP_p.M1I|ASB15_ENST00000540573.1_Start_Codon_SNP_p.M1I|RP11-390E23.3_ENST00000440504.1_RNA Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box containing 15 1 intracellular signal transduction p.M1I(2) breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 ATGCAGGAATGGATACTAATG 0.348000 41 199 3.43241e-23 6.13159e-23 0.009718 1 0 CD96 10225 broad.mit.edu 37 3 111343207 111343207 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr3:111343207G>T ENST00000352690.4 + 10 1517 c.1277G>T c.(1276-1278)gGc>gTc p.G426V CD96_ENST00000283285.5_Missense_Mutation_p.G442V NM_005816.4 NP_005807.1 P40200 TACT_HUMAN CD96 molecule 442 Pro/Ser/Thr-rich. cell adhesion|immune response|regulation of immune response integral to plasma membrane p.G442V(1) central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5) 35 ACTACCCGAGGCTTCAACTAT 0.418000 Opitz Trigonocephaly syndrome 41 153 1.30916e-28 2.39047e-28 0.014410 1 0 LSP1 4046 broad.mit.edu 37 11 1908758 1908758 + Nonsense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr11:1908758G>T ENST00000406638.2 + 10 2101 c.799G>T c.(799-801)Gag>Tag p.E267* LSP1_ENST00000405957.2_Nonsense_Mutation_p.E267*|LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000311604.3_Nonsense_Mutation_p.E329*|LSP1_ENST00000381775.1_Nonsense_Mutation_p.E457* NM_001013254.1|NM_001013255.1 NP_001013272.1|NP_001013273.1 P33241 LSP1_HUMAN lymphocyte-specific protein 1 329 cellular component movement|cellular defense response actin cytoskeleton|Golgi apparatus|plasma membrane actin binding|signal transducer activity p.E329*(1)|p.E267*(1) haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856) TGGGAAGTATGAGAAGGTGCT 0.577000 13 80 0.00244969 0.00265192 0.020292 1 0 SCN10A 6336 broad.mit.edu 37 3 38764936 38764936 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr3:38764936C>A ENST00000449082.2 - 18 3336 c.3337G>T c.(3337-3339)Gac>Tac p.D1113Y NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1113 sensory perception voltage-gated sodium channel complex p.D1113Y(1) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 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) GTGAAGCAGTCATCTGGTTCT 0.552000 11 89 2.27111e-07 2.91207e-07 0.013537 1 0 SYNE2 23224 broad.mit.edu 37 14 64591827 64591827 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr14:64591827G>T ENST00000357395.3 + 72 13752 c.2608G>T c.(2608-2610)Gtg>Ttg p.V870L SYNE2_ENST00000555002.1_Missense_Mutation_p.V1119L|SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000344113.4_Missense_Mutation_p.V4485L|SYNE2_ENST00000394768.2_Missense_Mutation_p.V870L|SYNE2_ENST00000358025.3_Missense_Mutation_p.V4485L|ESR2_ENST00000542956.1_Intron Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4485 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 p.V4485L(1) NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TCTACCCAGCGTGACTATGTA 0.373000 13 83 4.3838e-07 5.57148e-07 0.016723 1 0 DCLK3 85443 broad.mit.edu 37 3 36779841 36779841 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr3:36779841G>T ENST00000416516.2 - 2 800 c.310C>A c.(310-312)Ccc>Acc p.P104T NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 104 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity p.P104T(1) breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 TTGCTACTGGGTTCTGGCTCC 0.577000 21 222 1.01871e-10 1.46949e-10 0.008871 1 0 BRPF3 27154 broad.mit.edu 37 6 36198206 36198206 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr6:36198206G>T ENST00000357641.6 + 13 3691 c.3438G>T c.(3436-3438)caG>caT p.Q1146H BRPF3_ENST00000443324.2_Missense_Mutation_p.Q812H|BRPF3_ENST00000534694.1_Missense_Mutation_p.Q812H|BRPF3_ENST00000543502.1_Missense_Mutation_p.Q876H|BRPF3_ENST00000534400.1_3'UTR|BRPF3_ENST00000339717.7_Missense_Mutation_p.Q876H NM_015695.2 NP_056510.2 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 1146 PWWP. histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding p.Q1146H(1) breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 ATTTCAGGCAGTGGCTTCCAA 0.607000 12 70 9.31168e-06 1.12402e-05 0.016723 1 0 PCDHB4 56131 broad.mit.edu 37 5 140503451 140503451 + Missense_Mutation SNP G G T rs149487286 TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr5:140503451G>T ENST00000194152.1 + 1 1871 c.1871G>T c.(1870-1872)cGc>cTc p.R624L NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 624 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding p.R624L(1) autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGCGAGGTGCGCACCGCCAGG 0.697000 21 103 1.96895e-08 2.64205e-08 0.016522 1 0 ZFHX4 79776 broad.mit.edu 37 8 77690535 77690535 + Missense_Mutation SNP T T A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr8:77690535T>A ENST00000521891.2 + 4 3633 c.3185T>A c.(3184-3186)cTg>cAg p.L1062Q ZFHX4_ENST00000518282.1_Missense_Mutation_p.L1036Q|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L1036Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L1036Q NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1036 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.L1062Q(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AAGTTGAATCTGGTACAACAT 0.532000 HNSCC(33;0.089) 25 157 0 0 0.006320 0 0 ASUN 55726 broad.mit.edu 37 12 27058465 27058465 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr12:27058465C>G ENST00000261191.7 - 17 2622 c.2086G>C c.(2086-2088)Gag>Cag p.E696Q ASUN_ENST00000539625.1_Missense_Mutation_p.E595Q NM_018164.2 NP_060634.2 Q9NVM9 M89BB_HUMAN asunder spermatogenesis regulator 696 cell division|mitosis|regulation of mitotic cell cycle protein binding p.E696Q(1) TCTGTTGTCTCCATCCTGAAA 0.299000 17 116 0 0 0.006122 0 0 DRD3 1814 broad.mit.edu 37 3 113858370 113858370 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr3:113858370C>A ENST00000383673.2 - 5 1130 c.700G>T c.(700-702)Gtc>Ttc p.V234F DRD3_ENST00000467632.1_Missense_Mutation_p.V234F|DRD3_ENST00000460779.1_Missense_Mutation_p.V234F|DRD3_ENST00000295881.7_Missense_Mutation_p.V234F NM_000796.3 NP_000787.2 P35462 DRD3_HUMAN dopamine receptor D3 234 activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding p.V234F(1) central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1) 36 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) CCAGGCCTGACACTGTTGCAC 0.527000 55 211 4.46115e-38 8.41204e-38 0.014410 1 0 ZNF638 27332 broad.mit.edu 37 2 71592757 71592757 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr2:71592757G>T ENST00000409544.1 + 6 2546 c.1916G>T c.(1915-1917)tGt>tTt p.C639F ZNF638_ENST00000264447.4_Missense_Mutation_p.C639F|ZNF638_ENST00000355812.3_Missense_Mutation_p.C639F|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Missense_Mutation_p.C639F NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 639 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding p.C639F(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 TCTATTCGTTGTAAATCAAAG 0.358000 16 52 3.45872e-05 4.06452e-05 0.004007 1 0 PDE1B 5153 broad.mit.edu 37 12 54943667 54943667 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr12:54943667C>A ENST00000243052.3 + 2 447 c.11C>A c.(10-12)tCc>tAc p.S4Y NM_000924.3 NP_000915.1 Q01064 PDE1B_HUMAN phosphodiesterase 1B, calmodulin-dependent 4 activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding p.S4Y(1) endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 ATGGAGCTGTCCCCCCGCAGT 0.627000 14 85 6.49762e-13 1.02156e-12 0.006122 1 0 HIRA 7290 broad.mit.edu 37 22 19365548 19365548 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr22:19365548C>A ENST00000263208.5 - 14 1713 c.1457G>T c.(1456-1458)gGc>gTc p.G486V HIRA_ENST00000340170.4_Missense_Mutation_p.G486V|HIRA_ENST00000541063.1_Missense_Mutation_p.G442V|HIRA_ENST00000546308.1_Missense_Mutation_p.G442V NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 486 Interaction with CCNA1. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity p.G486F(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) CGCCAGGGAGCCCGAGAGGGG 0.542000 20 237 3.51602e-12 5.45361e-12 0.008871 1 0 ITGAX 3687 broad.mit.edu 37 16 31384696 31384696 + Silent SNP C C T rs146985733 TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr16:31384696C>T ENST00000268296.4 + 20 2614 c.2493C>T c.(2491-2493)taC>taT p.Y831Y ITGAX_ENST00000562522.1_Silent_p.Y831Y NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 831 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity p.Y831Y(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 CCTACCGCTACGTGGCAGAGG 0.627000 19 82 0 0 0.016522 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30691010 30691010 + Missense_Mutation SNP T T A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr22:30691010T>A ENST00000215790.7 - 5 723 c.559A>T c.(559-561)Acg>Tcg p.T187S TBC1D10A_ENST00000403362.1_Missense_Mutation_p.T99S|RP1-130H16.18_ENST00000447976.1_Missense_Mutation_p.T61S|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.T194S NM_031937.2 NP_114143.1 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 187 Rab-GAP TBC. intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity p.T187S(1) cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 CGGTACAGCGTGTAGGCCTTC 0.647000 15 92 0 0 0.004990 0 0 SHROOM3 57619 broad.mit.edu 37 4 77680773 77680773 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr4:77680773G>A ENST00000296043.6 + 9 6227 c.5274G>A c.(5272-5274)gaG>gaA p.E1758E RP11-359D14.3_ENST00000449007.1_RNA NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 1758 ASD2. apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding p.E1757E(1) NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) CCAAGGCTGAGCTACTGAACA 0.453000 9 73 0 0 0.004482 0 0 DLGAP3 58512 broad.mit.edu 37 1 35370069 35370069 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:35370069C>A ENST00000373347.1 - 3 1184 c.916G>T c.(916-918)Ggc>Tgc p.G306C DLGAP3_ENST00000235180.4_Missense_Mutation_p.G306C O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 306 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane p.G306C(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) TCCGACCCGCCCGAGCGCCCC 0.652000 58 76 7.89702e-26 1.4284e-25 0.014410 1 0 HIST1H1B 3009 broad.mit.edu 37 6 27835222 27835222 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr6:27835222G>C ENST00000331442.3 - 1 137 c.86C>G c.(85-87)gCc>gGc p.A29G NM_005322.2 NP_005313.1 P16401 H15_HUMAN histone cluster 1, H1b 29 nucleosome assembly nucleosome|nucleus DNA binding p.A29G(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 GCCGGCGCCGGCAGCCTTCTT 0.612000 8 120 0 0 0.004482 0 0 MYO18B 84700 broad.mit.edu 37 22 26164338 26164338 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr22:26164338A>T ENST00000335473.7 + 4 705 c.455A>T c.(454-456)gAt>gTt p.D152V MYO18B_ENST00000407587.2_Missense_Mutation_p.D152V|MYO18B_ENST00000536101.1_Missense_Mutation_p.D152V NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 152 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity p.D152V(1) NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 AGGAGGGGTGATGTGTTGTTG 0.597000 9 44 0 0 0.004482 0 0 POLR3A 11128 broad.mit.edu 37 10 79781687 79781687 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr10:79781687C>A ENST00000372371.3 - 7 1116 c.979G>T c.(979-981)Ggc>Tgc p.G327C NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 327 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding p.G327C(1) breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) AGGGGAATGCCCGAGAGCTCA 0.537000 17 67 1.2644e-06 1.586e-06 0.010504 1 0 RYR2 6262 broad.mit.edu 37 1 237794762 237794762 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:237794762C>G ENST00000366574.2 + 42 6793 c.6476C>G c.(6475-6477)cCt>cGt p.P2159R RYR2_ENST00000360064.6_Missense_Mutation_p.P2157R|RYR2_ENST00000542537.1_Missense_Mutation_p.P2143R NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2159 4 X approximate repeats. 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 p.P2157S(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 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) TACCAGCACCCTAATCTCATG 0.458000 12 42 0 0 0.016723 0 0 UAP1 6675 broad.mit.edu 37 1 162536099 162536099 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:162536099A>T ENST00000271469.3 + 2 543 c.241A>T c.(241-243)Aca>Tca p.T81S UAP1_ENST00000367924.1_Missense_Mutation_p.T81S|UAP1_ENST00000367926.4_Missense_Mutation_p.T81S|UAP1_ENST00000367925.1_Missense_Mutation_p.T81S Q16222 UAP1_HUMAN UDP-N-acteylglucosamine pyrophosphorylase 1 81 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol|nucleus|plasma membrane UDP-N-acetylglucosamine diphosphorylase activity p.T81S(1) breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1) 22 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) AGGCAGTGCTACAAGGGATCA 0.423000 8 45 0 0 0.006214 0 0 APOB 338 broad.mit.edu 37 2 21255419 21255419 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr2:21255419G>T ENST00000233242.1 - 10 1286 c.1159C>A c.(1159-1161)Cag>Aag p.Q387K APOB_ENST00000399256.4_Missense_Mutation_p.Q387K NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 387 Vitellogenin. 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 p.Q387T(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CACTGAGGCTGTCCACACTGA 0.507000 11 53 6.40141e-05 7.40203e-05 0.010729 1 0 SLC7A14 57709 broad.mit.edu 37 3 170219103 170219103 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr3:170219103G>A ENST00000231706.4 - 3 651 c.336C>T c.(334-336)gtC>gtT p.V112V CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 112 integral to membrane amino acid transmembrane transporter activity p.V112V(1) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) TGGTCTTGGGGACTCGAACTC 0.502000 6 43 0 0 0.021553 0 0 FRAS1 80144 broad.mit.edu 37 4 79207579 79207579 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr4:79207579A>T ENST00000264895.6 + 14 1860 c.1420A>T c.(1420-1422)Acg>Tcg p.T474S FRAS1_ENST00000325942.6_Missense_Mutation_p.T474S|FRAS1_ENST00000264899.6_Missense_Mutation_p.T474S NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 474 cell communication integral to membrane|plasma membrane metal ion binding p.T474S(3) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 CCAGTGCTCCACGTGTACCAG 0.567000 21 150 0 0 0.021523 0 0 XIST 7503 broad.mit.edu 37 X 73070884 73070884 + RNA SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:73070884A>T ENST00000429829.1 - 0 1704 NR_001564.2 GTCTTCGCTGAGTAGCTGGAC 0.502000 33 163 0 0 0.009535 0 0 ARID2 196528 broad.mit.edu 37 12 46245363 46245363 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr12:46245363G>T ENST00000334344.6 + 15 3629 c.3457G>T c.(3457-3459)Ggt>Tgt p.G1153C ARID2_ENST00000422737.1_Missense_Mutation_p.G1004C|ARID2_ENST00000444670.1_Missense_Mutation_p.G763C|ARID2_ENST00000479608.1_3'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1153 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.G1153C(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) AATATTGCCAGGTCCACTGAT 0.478000 """N, S, F""" hepatocellular carcinoma 24 136 2.79863e-10 3.99706e-10 0.004656 1 0 DAB1 1600 broad.mit.edu 37 1 57756646 57756646 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:57756646G>T ENST00000371236.2 - 2 320 c.57C>A c.(55-57)tcC>tcA p.S19S DAB1_ENST00000371234.4_Silent_p.S19S|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Silent_p.S19S|DAB1_ENST00000371231.1_Silent_p.S19S|DAB1_ENST00000439789.2_Silent_p.S19S|DAB1_ENST00000371230.1_Silent_p.S19S|DAB1_ENST00000414851.2_Silent_p.S19S O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 19 cell differentiation|nervous system development p.S19S(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 CTTTCTTTCTGGAGTCTTTCT 0.408000 23 109 1.22574e-08 1.66021e-08 0.014323 1 0 KMT2C 58508 broad.mit.edu 37 7 151960177 151960177 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr7:151960177G>A ENST00000355193.2 - 9 1441 c.1223C>T c.(1222-1224)aCg>aTg p.T408M KMT2C_ENST00000262189.6_Missense_Mutation_p.T408M lysine (K)-specific methyltransferase 2C p.T408M(2) TTTGTCACACGTATCACACAC 0.313000 25 112 0 0 0.018920 0 0 RYR2 6262 broad.mit.edu 37 1 237550607 237550607 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:237550607A>T ENST00000366574.2 + 9 920 c.603A>T c.(601-603)ttA>ttT p.L201F RYR2_ENST00000360064.6_Missense_Mutation_p.L199F|RYR2_ENST00000542537.1_Missense_Mutation_p.L185F NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 201 MIR 2. 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 p.L199F(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 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) ACGGCAGCTTACACGTGGATG 0.512000 5 52 0 0 0.001984 0 0 FLG 2312 broad.mit.edu 37 1 152277028 152277028 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:152277028C>T ENST00000368799.1 - 3 10369 c.10334G>A c.(10333-10335)aGg>aAg p.R3445K FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3445 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.R3445K(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGATCCCTGCCTTCCTCTTCT 0.612000 Ichthyosis 40 656 0 0 0.008740 0 0 ULK1 8408 broad.mit.edu 37 12 132399719 132399719 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr12:132399719G>T ENST00000321867.4 + 17 1816 c.1465G>T c.(1465-1467)Gtc>Ttc p.V489F NM_003565.2 NP_003556.1 O75385 ULK1_HUMAN unc-51 like autophagy activating kinase 1 489 autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity p.V489F(1) breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 29 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) GCATGGAGGCGTCCTGGCCAG 0.682000 8 15 0.000157383 0.000179113 0.003080 1 0 MUC17 140453 broad.mit.edu 37 7 100683336 100683336 + Missense_Mutation SNP C C A rs142042551 TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr7:100683336C>A ENST00000306151.4 + 3 8703 c.8639C>A c.(8638-8640)cCg>cAg p.P2880Q NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2880 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.P2880Q(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AGCACCACGCCGGTGGCCAGT 0.488000 87 235 9.24773e-40 1.76104e-39 0.014410 1 0 HHIPL2 79802 broad.mit.edu 37 1 222717000 222717000 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:222717000G>T ENST00000343410.6 - 2 911 c.853C>A c.(853-855)Cac>Aac p.H285N NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 285 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding p.H285N(1) NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) TTGCGATTGTGGCGGAATTTG 0.478000 40 324 1.04594e-18 1.79082e-18 0.006230 1 0 SH3BP5L 80851 broad.mit.edu 37 1 249119037 249119037 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:249119037G>C ENST00000366472.5 - 2 1327 c.98C>G c.(97-99)gCa>gGa p.A33G SH3BP5L_ENST00000475978.1_5'UTR NM_030645.1 NP_085148.1 Q7L8J4 3BP5L_HUMAN SH3-binding domain protein 5-like 33 p.A33G(1) endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) AGGCTCTTCTGCGACTGGGCT 0.582000 8 355 0 0 0.004482 0 0 TRPC4 7223 broad.mit.edu 37 13 38225593 38225593 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr13:38225593G>C ENST00000379705.3 - 8 2745 c.1888C>G c.(1888-1890)Cat>Gat p.H630D TRPC4_ENST00000447043.1_Missense_Mutation_p.H630D|TRPC4_ENST00000338947.5_Missense_Mutation_p.H457D|TRPC4_ENST00000379679.1_Missense_Mutation_p.H457D|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000355779.2_Missense_Mutation_p.H630D|TRPC4_ENST00000358477.2_Missense_Mutation_p.H630D|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000379681.3_Missense_Mutation_p.H630D Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 630 Binds to ITPR1, ITPR2 and ITPR3. axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity p.H630D(2) NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) ATATCTGCATGGTCCTGAACA 0.428000 7 97 0 0 0.003080 0 0 OOSP2 219990 broad.mit.edu 37 11 59807963 59807963 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr11:59807963G>C ENST00000278855.2 + 1 216 c.31G>C c.(31-33)Gtc>Ctc p.V11L PLAC1L_ENST00000532905.1_5'UTR NM_173801.3 NP_776162.2 Q86WS3 PLACL_HUMAN 11 extracellular region p.V11L(1) breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1) 15 GCTCCTCGCTGTCTTGATTTG 0.478000 18 139 0 0 0.012319 0 0 MDH1 4190 broad.mit.edu 37 2 63824683 63824683 + Missense_Mutation SNP A A G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr2:63824683A>G ENST00000233114.8 + 4 785 c.350A>G c.(349-351)gAt>gGt p.D117G MDH1_ENST00000409476.1_Intron|MDH1_ENST00000394423.1_Missense_Mutation_p.D117G|MDH1_ENST00000544381.1_Missense_Mutation_p.D28G|MDH1_ENST00000539945.1_Missense_Mutation_p.D135G|MDH1_ENST00000409908.1_Intron NM_005917.3 NP_005908.1 P40925 MDHC_HUMAN malate dehydrogenase 1, NAD (soluble) 117 gluconeogenesis|tricarboxylic acid cycle centrosome|cytosol L-malate dehydrogenase activity|malic enzyme activity p.D117G(1) endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4) 13 NADH(DB00157) GCAGCCTTAGATAAATACGCC 0.383000 3 41 0 0 0.004672 0 0 FKBP6 8468 broad.mit.edu 37 7 72756806 72756806 + Splice_Site SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr7:72756806G>C ENST00000252037.4 + 8 962 c.e8-1 FKBP6_ENST00000431982.2_Splice_Site|FKBP6_ENST00000413573.2_Splice_Site NM_003602.3 NP_003593.3 O75344 FKBP6_HUMAN FK506 binding protein 6, 36kDa protein folding membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity p.?(2) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 16 Lung NSC(55;0.0908)|all_lung(88;0.198) TCCCTCTCCAGCTGTTACAGG 0.478000 OREG0018106 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 298 0 0 0.004007 0 0 SOX1 6656 broad.mit.edu 37 13 112722333 112722333 + Silent SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr13:112722333C>A ENST00000330949.1 + 1 421 c.361C>A c.(361-363)Cgg>Agg p.R121R NM_005986.2 NP_005977.2 O00570 SOX1_HUMAN SRY (sex determining region Y)-box 1 121 chromatin organization nucleus core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.R121R(1) lung(4) 4 all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231) OV - Ovarian serous cystadenocarcinoma(48;0.132) TTACAAGTACCGGCCGCGCCG 0.697000 6 54 0.0215528 0.0224071 0.021553 1 0 PDZD2 23037 broad.mit.edu 37 5 32089086 32089086 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr5:32089086C>T ENST00000438447.1 + 20 5920 c.5532C>T c.(5530-5532)ggC>ggT p.G1844G PDZD2_ENST00000282493.3_Silent_p.G1844G O15018 PDZD2_HUMAN PDZ domain containing 2 1844 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus p.G1844G(1) NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 AAAAAAAGGGCGTTACTGTGC 0.478000 27 149 0 0 0.008361 0 0 ANKRD36BP1 84832 broad.mit.edu 37 1 168215927 168215927 + RNA SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:168215927G>T ENST00000358576.4 - 0 654 NR_026844.1 p.D119E(2) lung(1) 1 GCAACATTCAGTCTACGATGG 0.413000 4 52 0.00909568 0.00955958 0.009096 1 0 TFDP1 7027 broad.mit.edu 37 13 114287464 114287464 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr13:114287464G>A ENST00000375370.5 + 6 550 c.338G>A c.(337-339)gGc>gAc p.G113D TFDP1_ENST00000544902.1_Missense_Mutation_p.G18D|TFDP1_ENST00000538138.1_Missense_Mutation_p.G18D|TFDP1_ENST00000465174.1_3'UTR NM_007111.4 NP_009042.1 Q14186 TFDP1_HUMAN transcription factor Dp-1 113 cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding p.G113D(1) breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153) all cancers(43;0.0576) GAGAAGAATGGCAAGGGCCTA 0.517000 TSP Lung(29;0.18) 12 61 0 0 0.016723 0 0 HERC2 8924 broad.mit.edu 37 15 28389295 28389295 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr15:28389295G>A ENST00000261609.7 - 73 11335 c.11227C>T c.(11227-11229)Ctt>Ttt p.L3743F NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3743 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 p.L3743F(1) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 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) TTAGAGGCAAGGTTGAGTCGG 0.542000 11 163 0 0 0.016723 0 0 OR51M1 390059 broad.mit.edu 37 11 5411262 5411262 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr11:5411262C>T ENST00000328611.3 + 1 656 c.634C>T c.(634-636)Ctg>Ttg p.L212L AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron NM_001004756.2 NP_001004756.2 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, member 1 212 integral to membrane olfactory receptor activity p.L212L(1) NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTGTATGGACTGATGGTGGT 0.522000 23 86 0 0 0.012319 0 0 HIRA 7290 broad.mit.edu 37 22 19365549 19365549 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr22:19365549C>A ENST00000263208.5 - 14 1712 c.1456G>T c.(1456-1458)Ggc>Tgc p.G486C HIRA_ENST00000340170.4_Missense_Mutation_p.G486C|HIRA_ENST00000541063.1_Missense_Mutation_p.G442C|HIRA_ENST00000546308.1_Missense_Mutation_p.G442C NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 486 Interaction with CCNA1. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity p.G486F(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) GCCAGGGAGCCCGAGAGGGGG 0.542000 20 237 3.51602e-12 5.45361e-12 0.008871 1 0 FER1L6 654463 broad.mit.edu 37 8 124992872 124992872 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr8:124992872C>A ENST00000522917.1 + 11 1437 c.1231C>A c.(1231-1233)Cag>Aag p.Q411K FER1L6_ENST00000399018.1_Missense_Mutation_p.Q411K NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 411 integral to membrane p.Q411K(1) NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) AGGACGGGCACAGGAATCTAA 0.468000 OREG0018964 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 44 134 1.97e-11 2.92961e-11 0.010771 1 0 ARAF 369 broad.mit.edu 37 X 47426121 47426121 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:47426121C>T ENST00000377045.4 + 7 835 c.641C>T c.(640-642)tCc>tTc p.S214F ARAF_ENST00000290277.6_Intron NM_001256196.1|NM_001654.4 NP_001243125.1|NP_001645.1 P10398 ARAF_HUMAN v-raf murine sarcoma 3611 viral oncogene homolog 214 intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity p.S214F(1) biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 29 Adenosine triphosphate(DB00171) CGCTCCACGTCCACTCCCAAC 0.662000 15 36 0 0 0.004007 0 0 RASGRF1 5923 broad.mit.edu 37 15 79298770 79298770 + Silent SNP G G A rs141856364 byFrequency TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr15:79298770G>A ENST00000419573.3 - 15 2146 c.1872C>T c.(1870-1872)gaC>gaT p.D624D RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.D611D NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 624 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity p.D624D(1) breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 ATAAGGAGGCGTCGGACCTGA 0.552000 5 74 0 0 0.021553 0 0 ADH6 130 broad.mit.edu 37 4 100129927 100129927 + Silent SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr4:100129927G>C ENST00000394897.1 - 6 808 c.726C>G c.(724-726)ctC>ctG p.L242L ADH6_ENST00000407820.2_Silent_p.L33L|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394899.2_Silent_p.L242L|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000237653.7_Silent_p.L242L|ADH6_ENST00000504257.1_5'UTR P28332 ADH6_HUMAN alcohol dehydrogenase 6 (class V) 242 ethanol oxidation|response to ethanol|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding p.L242L(2) breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2) 20 OV - Ovarian serous cystadenocarcinoma(123;3.58e-08) Abacavir(DB01048)|NADH(DB00157) CCTGAGGGTTGAGGCACTCAG 0.443000 90 482 0 0 0.014410 0 0 OSR2 116039 broad.mit.edu 37 8 99963021 99963021 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr8:99963021C>T ENST00000523368.1 + 3 1290 c.794C>T c.(793-795)tCg>tTg p.S265L OSR2_ENST00000297565.4_Intron|OSR2_ENST00000522510.1_Intron|OSR2_ENST00000435298.2_Intron|OSR2_ENST00000457907.2_Intron Q8N2R0 OSR2_HUMAN odd-skipped related transciption factor 2 0 bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(36;4.14e-07) OV - Ovarian serous cystadenocarcinoma(57;0.0136) GTGGCTGGTTCGTGTTATCAT 0.383000 4 15 0 0 0.009096 0 0 SLC12A9 56996 broad.mit.edu 37 7 100454719 100454719 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr7:100454719C>T ENST00000354161.3 + 5 803 c.678C>T c.(676-678)ggC>ggT p.G226G SLC12A9_ENST00000415287.1_Silent_p.G137G|SLC12A9_ENST00000540482.1_Silent_p.G226G|SLC12A9_ENST00000428758.1_Silent_p.G226G|SLC12A9_ENST00000275729.3_Silent_p.G137G NM_020246.3 NP_064631.2 Q9BXP2 S12A9_HUMAN solute carrier family 12, member 9 226 integral to membrane|plasma membrane cation:chloride symporter activity p.G226G(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 41 Lung NSC(181;0.041)|all_lung(186;0.0581) CTAGGCCTGGCCCCAATGGCT 0.627000 7 150 0 0 0.003080 0 0 PFKL 5211 broad.mit.edu 37 21 45730918 45730918 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr21:45730918G>A ENST00000403390.1 + 4 330 c.330G>A c.(328-330)gaG>gaA p.E110E PFKL_ENST00000496824.1_3'UTR|PFKL_ENST00000349048.4_Silent_p.E63E P17858 K6PL_HUMAN phosphofructokinase, liver 63 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding p.E110E(1) cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Colorectal(79;0.0811) AGGGAGGTGAGAACATCAAGC 0.602000 12 92 0 0 0.010729 0 0 KCNG1 3755 broad.mit.edu 37 20 49626477 49626477 + Silent SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr20:49626477C>A ENST00000371571.4 - 2 684 c.399G>T c.(397-399)gcG>gcT p.A133A RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000396017.3_Silent_p.A133A NM_002237.3 NP_002228.2 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, member 1 133 voltage-gated potassium channel complex voltage-gated potassium channel activity p.A133A(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GCAGCTTGCCCGCGCGCAGGA 0.642000 8 60 1.58986e-06 1.97705e-06 0.008291 1 0 WDR13 64743 broad.mit.edu 37 X 48457296 48457296 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:48457296A>T ENST00000218056.5 + 2 738 c.233A>T c.(232-234)tAt>tTt p.Y78F WDR13_ENST00000492715.1_3'UTR NM_001166426.1|NM_017883.4 NP_001159898.1|NP_060353.2 Q9H1Z4 WDR13_HUMAN WD repeat domain 13 78 cytoplasm|nucleus p.Y78F(2) endometrium(1)|large_intestine(4)|lung(4)|ovary(2) 11 GCTCGTGCCTATAGCAACAGC 0.662000 11 34 0 0 0.008291 0 0 MUC17 140453 broad.mit.edu 37 7 100680395 100680395 + Missense_Mutation SNP A A C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr7:100680395A>C ENST00000306151.4 + 3 5762 c.5698A>C c.(5698-5700)Act>Cct p.T1900P NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1900 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.T1900P(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACCTGTGACCACTTATGCTCA 0.493000 61 443 0 0 0.014410 0 0 XIRP2 129446 broad.mit.edu 37 2 168106328 168106328 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr2:168106328G>T ENST00000409195.1 + 9 8515 c.8426G>T c.(8425-8427)gGa>gTa p.G2809V XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G2809V|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G2587V NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2634 actin cytoskeleton organization cell junction actin binding p.G2809V(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GAATTTAGCGGATCTGACAGA 0.398000 24 96 3.6726e-16 6.14229e-16 0.021523 1 0 SCFD2 152579 broad.mit.edu 37 4 54232058 54232058 + Silent SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr4:54232058C>A ENST00000401642.3 - 1 184 c.51G>T c.(49-51)gtG>gtT p.V17V SCFD2_ENST00000388940.4_Silent_p.V17V NM_152540.3 NP_689753.2 Q8WU76 SCFD2_HUMAN sec1 family domain containing 2 17 protein transport|vesicle docking involved in exocytosis p.V17V(1) breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134) CTTTGGCCAGCACCTGCTCCC 0.627000 16 75 3.45872e-05 4.06452e-05 0.004007 1 0 TERT 7015 broad.mit.edu 37 5 1264701 1264701 + Silent SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr5:1264701C>A ENST00000310581.5 - 11 2718 c.2661G>T c.(2659-2661)ctG>ctT p.L887L TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Intron NM_001193376.1|NM_198253.2 NP_001180305.1|NP_937983.2 O14746 TERT_HUMAN telomerase reverse transcriptase 887 Reverse transcriptase. 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 p.L875L(1)|p.L887L(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 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) CACCTCGGACCAGGGTCCTAA 0.582000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 20 135 1.10923e-09 1.53853e-09 0.016522 1 0 ZNF728 388523 broad.mit.edu 37 19 23159498 23159498 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr19:23159498G>A ENST00000594710.1 - 4 786 c.641C>T c.(640-642)tCa>tTa p.S214L NM_001267716.1 NP_001254645.1 zinc finger protein 728 AGTAAGGGCTGAGGACCAGTT 0.368000 11 38 0 0 0.008291 0 0 MTERFD1 51001 broad.mit.edu 37 8 97256256 97256256 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr8:97256256G>T ENST00000523821.1 - 7 1069 c.950C>A c.(949-951)aCc>aAc p.T317N MTERFD1_ENST00000287025.3_Missense_Mutation_p.T317N|MTERFD1_ENST00000522822.1_Missense_Mutation_p.T196N|MTERFD1_ENST00000524341.1_Intron Q96E29 MTER1_HUMAN MTERF domain containing 1 317 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion transcription regulatory region DNA binding p.T317N(1) endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 24 Breast(36;5.16e-05) TGGGATTCTGGTGATCATATG 0.328000 16 64 6.72482e-11 9.77386e-11 0.003163 1 0 PDE1A 5136 broad.mit.edu 37 2 183053786 183053786 + Splice_Site SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr2:183053786C>A ENST00000435564.1 - 11 1375 c.1173_splice c.e11-1 p.G392_splice PDE1A_ENST00000409365.1_Splice_Site_p.G376_splice|PDE1A_ENST00000536095.1_Splice_Site_p.G288_splice|PDE1A_ENST00000410103.1_Splice_Site_p.G392_splice|PDE1A_ENST00000351439.5_Splice_Site_p.G376_splice|PDE1A_ENST00000456212.1_Splice_Site_p.G392_splice|PDE1A_ENST00000358139.2_Splice_Site_p.G392_splice|PDE1A_ENST00000331935.6_Splice_Site_p.G392_splice|PDE1A_ENST00000346717.4_Splice_Site_p.G358_splice NM_001258312.1|NM_005019.4 NP_001245241.1|NP_005010.2 P54750 PDE1A_HUMAN phosphodiesterase 1A, calmodulin-dependent 392 Catalytic (By similarity). 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 p.G392E(2)|p.G392V(2) endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) TTCTTTATCTCCCTGGAGAAA 0.393000 32 183 3.90053e-15 6.39376e-15 0.012213 1 0 AC005609.1 0 broad.mit.edu 37 5 140242795 140242795 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr5:140242795G>A ENST00000502505.1 - 1 429 c.181C>T c.(181-183)Ctg>Ttg p.L61L PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA14_ENST00000562220.1_RNA|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron GCGGAGAGCAGCCAAGCGAGG 0.672000 4 30 0 0 0.009096 0 0 RBL1 5933 broad.mit.edu 37 20 35632118 35632118 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr20:35632118C>A ENST00000373664.3 - 21 3089 c.3023G>T c.(3022-3024)gGc>gTc p.G1008V RBL1_ENST00000344359.3_Missense_Mutation_p.G1008V NM_002895.2 NP_002886.2 P28749 RBL1_HUMAN retinoblastoma-like 1 (p107) 1008 cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding p.G1008F(1) NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 42 Myeloproliferative disorder(115;0.00878) AGAAGGGCTGCCATTGAACTT 0.438000 23 141 7.4402e-23 1.32092e-22 0.021523 1 0 C4orf51 646603 broad.mit.edu 37 4 146601435 146601435 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr4:146601435G>C ENST00000438731.1 + 1 80 c.80G>C c.(79-81)aGa>aCa p.R27T NM_001080531.1 NP_001074000.1 C9J302 CD051_HUMAN chromosome 4 open reading frame 51 27 p.R27T(1) haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4) 6 GATCTGATCAGACGCAAGGCT 0.468000 26 141 0 0 0.005443 0 0 PRDM9 56979 broad.mit.edu 37 5 23509208 23509208 + Silent SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr5:23509208C>A ENST00000296682.3 + 2 248 c.66C>A c.(64-66)ccC>ccA p.P22P NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 22 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding p.P22P(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 AGCGGAAGCCCATGGTGAGAA 0.562000 HNSCC(3;0.000094) 17 52 1.01871e-10 1.46949e-10 0.008871 1 0 KLK15 55554 broad.mit.edu 37 19 51330248 51330248 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr19:51330248G>T ENST00000326856.4 - 4 493 c.364C>A c.(364-366)Cgc>Agc p.R122S KLK15_ENST00000598239.1_Missense_Mutation_p.R123S|KLK15_ENST00000596931.1_Missense_Mutation_p.R122S|KLK15_ENST00000416184.1_Intron|KLK15_ENST00000301421.2_Missense_Mutation_p.R123S NM_001277081.1 NP_001264010.1 Q9H2R5 KLK15_HUMAN kallikrein-related peptidase 15 123 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity p.R123S(1) breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143) ACCGCGGGGCGCACCTGGGGG 0.701000 29 87 4.34311e-12 6.68259e-12 0.015359 1 0 PLXNA4 91584 broad.mit.edu 37 7 131872244 131872244 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr7:131872244G>T ENST00000359827.3 - 15 3941 c.2979C>A c.(2977-2979)ccC>ccA p.P993P PLXNA4_ENST00000321063.4_Silent_p.P993P Q9HCM2 PLXA4_HUMAN plexin A4 993 IPT/TIG 2. integral to membrane|intracellular|plasma membrane p.P993P(2) NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GGAAGAGACAGGGCTGCTTTC 0.547000 84 561 3.99893e-49 7.64033e-49 0.014410 1 0 LY6D 8581 broad.mit.edu 37 8 143867039 143867039 + Silent SNP C C T rs138562115 TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr8:143867039C>T ENST00000301263.4 - 2 192 c.117G>A c.(115-117)ccG>ccA p.P39P LY6D_ENST00000518434.1_5'UTR|RP11-706C16.8_ENST00000510610.2_RNA NM_003695.2 NP_003686.1 Q14210 LY6D_HUMAN lymphocyte antigen 6 complex, locus D 39 UPAR/Ly6. cell adhesion anchored to membrane|membrane fraction|plasma membrane protein binding p.P39P(1) large_intestine(1)|lung(3)|prostate(1) 5 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) GAGAGCTGGCCGGGCAGACCA 0.647000 33 97 0 0 0.019004 0 0 COL11A1 1301 broad.mit.edu 37 1 103463891 103463891 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:103463891C>A ENST00000358392.2 - 25 2524 c.2207G>T c.(2206-2208)gGa>gTa p.G736V COL11A1_ENST00000512756.1_Missense_Mutation_p.G608V|COL11A1_ENST00000370096.3_Missense_Mutation_p.G724V|COL11A1_ENST00000353414.4_Missense_Mutation_p.G685V NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 724 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging p.G736V(1)|p.G724V(1) NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ACCAGGAAGTCCAGCAAGTCC 0.303000 5 24 0.014758 0.0153985 0.014758 1 0 GBP5 115362 broad.mit.edu 37 1 89730452 89730452 + Missense_Mutation SNP T T C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:89730452T>C ENST00000343435.5 - 8 1602 c.1066A>G c.(1066-1068)Agg>Ggg p.R356G GBP5_ENST00000370459.3_Missense_Mutation_p.R356G|GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA NM_001134486.2|NM_052942.3 NP_001127958.1|NP_443174.1 Q96PP8 GBP5_HUMAN guanylate binding protein 5 356 plasma membrane GTP binding|GTPase activity p.R356G(1) breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1) 24 all cancers(265;0.00784)|Epithelial(280;0.0286) TCACTGGTCCTGTGCAGGTCC 0.488000 23 86 0 0 0.014323 0 0 ASIC1 41 broad.mit.edu 37 12 50471085 50471085 + Missense_Mutation SNP T T A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr12:50471085T>A ENST00000228468.4 + 4 1033 c.648T>A c.(646-648)aaT>aaA p.N216K ASIC1_ENST00000552438.1_Missense_Mutation_p.N250K|ASIC1_ENST00000447966.2_Missense_Mutation_p.N216K NM_020039.3 NP_064423.2 P78348 ACCN2_HUMAN acid-sensing (proton-gated) ion channel 1 216 calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding p.N216K(1) Amiloride(DB00594) GGACGGGCAATGGGCTGGAAA 0.617000 4 100 0 0 0.009096 0 0 ZBBX 79740 broad.mit.edu 37 3 167051729 167051729 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr3:167051729C>G ENST00000392766.2 - 10 913 c.573G>C c.(571-573)caG>caC p.Q191H ZBBX_ENST00000392767.2_Missense_Mutation_p.Q191H|ZBBX_ENST00000392764.1_Missense_Mutation_p.Q162H|ZBBX_ENST00000307529.5_Missense_Mutation_p.Q191H|ZBBX_ENST00000455345.2_Missense_Mutation_p.Q191H|ZBBX_ENST00000469220.1_Intron NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 191 intracellular zinc ion binding p.Q191H(2) NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 CCTTTATAAACTGATGGGCAA 0.299000 9 65 0 0 0.006214 0 0 GCM1 8521 broad.mit.edu 37 6 52993667 52993667 + Silent SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr6:52993667A>T ENST00000259803.7 - 6 859 c.648T>A c.(646-648)ggT>ggA p.G216G NM_003643.3 NP_003634.2 Q9NP62 GCM1_HUMAN glial cells missing homolog 1 (Drosophila) 216 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding p.G216G(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1) 24 Lung NSC(77;0.0755) CACTGTAACTACCAGGCAATT 0.438000 29 148 0 0 0.008361 0 0 PCDHB13 56123 broad.mit.edu 37 5 140594338 140594338 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr5:140594338G>T ENST00000341948.4 + 1 830 c.643G>T c.(643-645)Gca>Tca p.A215S NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 215 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.A215S(1) NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AACACTCACAGCACTGGATGG 0.547000 28 119 2.4375e-19 4.19832e-19 0.007291 1 0 SLC24A2 25769 broad.mit.edu 37 9 19597236 19597236 + Missense_Mutation SNP T T C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr9:19597236T>C ENST00000341998.2 - 4 1181 c.1120A>G c.(1120-1122)Act>Gct p.T374A SLC24A2_ENST00000286344.3_Intron NM_001193288.2|NM_020344.3 NP_001180217.1|NP_065077.1 Q9UI40 NCKX2_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 374 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity p.T374A(1) endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) CCTTCTTCAGTCATTGTGTCA 0.318000 4 22 0 0 0.009096 0 0 DIP2A 23181 broad.mit.edu 37 21 47976893 47976893 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr21:47976893G>C ENST00000318711.7 + 30 3726 c.3543G>C c.(3541-3543)aaG>aaC p.K1181N DIP2A_ENST00000417564.2_Missense_Mutation_p.K1180N|DIP2A_ENST00000400274.1_Missense_Mutation_p.K1176N NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 1180 multicellular organismal development nucleus catalytic activity|transcription factor binding p.K1180N(1)|p.K1181N(1) cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) GCTCCATAAAGCTGCAGTGTG 0.522000 7 8 0 0 0.003080 0 0 CPS1 1373 broad.mit.edu 37 2 211527847 211527847 + Splice_Site SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr2:211527847G>T ENST00000233072.5 + 33 4124 c.3927_splice c.e33-1 p.A1310_splice CPS1_ENST00000430249.2_Splice_Site_p.A1316_splice|CPS1_ENST00000451903.2_Splice_Site_p.A859_splice NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 1310 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 p.A1316S(1)|p.A1310S(1) breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TTTCCAACAGGCTCCCATGTT 0.408000 14 56 2.31682e-05 2.73936e-05 0.003163 1 0 DSC2 1824 broad.mit.edu 37 18 28648013 28648013 + Missense_Mutation SNP T T C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr18:28648013T>C ENST00000280904.6 - 16 3117 c.2674A>G c.(2674-2676)Agg>Ggg p.R892G DSC2_ENST00000251081.6_3'UTR NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 892 homophilic cell adhesion desmosome|integral to membrane calcium ion binding p.R892G(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) GCTAGTGTCCTAAATTTGGGC 0.398000 3 86 0 0 0.009096 0 0 MET 4233 broad.mit.edu 37 7 116340082 116340082 + Missense_Mutation SNP A A G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr7:116340082A>G ENST00000397752.3 + 2 1144 c.944A>G c.(943-945)aAt>aGt p.N315S MET_ENST00000436117.2_Missense_Mutation_p.N315S|MET_ENST00000318493.6_Missense_Mutation_p.N315S NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 315 Sema. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding p.N315S(1) NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) GAAGTGTTTAATATACTTCAG 0.443000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 12 72 0 0 0.010729 0 0 B4GALT6 9331 broad.mit.edu 37 18 29206276 29206276 + Missense_Mutation SNP T T A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr18:29206276T>A ENST00000306851.5 - 8 1267 c.971A>T c.(970-972)cAc>cTc p.H324L B4GALT6_ENST00000237019.7_Missense_Mutation_p.H285L|B4GALT6_ENST00000383131.3_Missense_Mutation_p.H285L NM_004775.3 NP_004766.2 Q9UBX8 B4GT6_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 324 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane metal ion binding p.H324L(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1) 20 OV - Ovarian serous cystadenocarcinoma(10;0.00791) ACCTCTATGGTGATGAGGAAT 0.353000 8 37 0 0 0.004482 0 0 SLIT1 6585 broad.mit.edu 37 10 98807553 98807553 + Missense_Mutation SNP C C A rs139828471 TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr10:98807553C>A ENST00000266058.4 - 16 1773 c.1528G>T c.(1528-1530)Gac>Tac p.D510Y SLIT1_ENST00000371070.4_Missense_Mutation_p.D510Y|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 510 LRRNT 3. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding p.D510Y(1) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) CAGACCACGTCGCTGTTGCAC 0.652000 12 81 0.00010058 0.000115377 0.013537 1 0 MYPN 84665 broad.mit.edu 37 10 69881917 69881917 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr10:69881917C>A ENST00000358913.5 + 2 1210 c.722C>A c.(721-723)gCt>gAt p.A241D MYPN_ENST00000540630.1_Missense_Mutation_p.A241D|MYPN_ENST00000373675.3_Missense_Mutation_p.A241D|MYPN_ENST00000354393.2_Intron NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 241 Interaction with CARP. nucleus|sarcomere actin binding p.A241D(1) breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 GCGGAGCAGGCTGCCAGTGAG 0.557000 12 37 4.3838e-07 5.57148e-07 0.016723 1 0 OR10W1 81341 broad.mit.edu 37 11 58034470 58034470 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr11:58034470C>A ENST00000395079.2 - 1 1262 c.861G>T c.(859-861)gaG>gaT p.E287D NM_207374.3 NP_997257.2 Q8NGF6 O10W1_HUMAN olfactory receptor, family 10, subfamily W, member 1 287 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E287D(1) kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1) 26 Breast(21;0.0589) CCCCTTTCATCTCACTGTTCC 0.522000 23 192 1.10923e-09 1.53853e-09 0.016522 1 0 CCDC47 57003 broad.mit.edu 37 17 61842180 61842180 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr17:61842180C>T ENST00000225726.5 - 3 674 c.292G>A c.(292-294)Gat>Aat p.D98N CCDC47_ENST00000582252.1_Missense_Mutation_p.D98N|CCDC47_ENST00000403162.3_Missense_Mutation_p.D98N NM_020198.2 NP_064583.2 Q96A33 CCD47_HUMAN coiled-coil domain containing 47 98 integral to membrane protein binding p.D98N(1) endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 18 TCTTCATCATCATATGGTTCA 0.388000 18 141 0 0 0.008871 0 0 IGSF5 150084 broad.mit.edu 37 21 41165524 41165524 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr21:41165524G>A ENST00000380588.4 + 8 1215 c.1112G>A c.(1111-1113)tGt>tAt p.C371Y NM_001080444.1 NP_001073913.1 Q9NSI5 IGSF5_HUMAN immunoglobulin superfamily, member 5 371 integral to membrane|tight junction p.C371Y(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1) 23 Prostate(19;5.35e-06) AACAGTAGCTGTGGCCCTCCT 0.418000 21 145 0 0 0.014323 0 0 LRRK2 120892 broad.mit.edu 37 12 40692296 40692296 + Splice_Site SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr12:40692296G>T ENST00000298910.7 + 24 3405 c.e24+1 LRRK2_ENST00000343742.2_Splice_Site NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding p.?(2) NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TTTTAGAAGGGTAAGAAAGAG 0.358000 21 109 2.70639e-06 3.35826e-06 0.014323 1 0 ABLIM1 3983 broad.mit.edu 37 10 116197683 116197683 + Splice_Site SNP T T A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr10:116197683T>A ENST00000369252.4 - 22 2264 c.1962_splice c.e22-1 p.I655_splice ABLIM1_ENST00000369253.2_Splice_Site_p.I338_splice|ABLIM1_ENST00000277895.5_Splice_Site_p.I715_splice|ABLIM1_ENST00000392952.3_Splice_Site_p.I392_splice|ABLIM1_ENST00000369266.3_Splice_Site_p.I392_splice|ABLIM1_ENST00000533213.2_Splice_Site_p.I655_splice NM_001003407.1|NM_001003408.1 NP_001003407.1|NP_001003408.1 O14639 ABLM1_HUMAN actin binding LIM protein 1 715 axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding p.I655L(1)|p.I392L(1)|p.I715L(1) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 30 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) TATGGAAATATCTGAGAAGAA 0.418000 28 133 0 0 0.008361 0 0 MUC2 4583 broad.mit.edu 37 11 1080968 1080968 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr11:1080968C>A ENST00000441003.2 + 10 1379 c.1352C>A c.(1351-1353)gCt>gAt p.A451D MUC2_ENST00000359061.5_Missense_Mutation_p.A451D NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 451 VWFD 2. inner mucus layer|outer mucus layer protein binding p.A451D(2) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) GTGCTGCTGGCTGACAAGAAG 0.637000 11 78 4.68919e-08 6.17731e-08 0.008291 1 0 PABPC5 140886 broad.mit.edu 37 X 90690948 90690948 + Nonsense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:90690948C>A ENST00000312600.3 + 2 586 c.372C>A c.(370-372)taC>taA p.Y124* PABPC5_ENST00000373105.1_Intron NM_080832.2 NP_543022.1 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 124 RRM 2. cytoplasm nucleotide binding|RNA binding p.Y124*(1) central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1) 42 CCCTGTTTTACTTATTTTCTG 0.443000 40 202 5.20837e-25 9.36208e-25 0.008740 1 0 BSND 7809 broad.mit.edu 37 1 55474212 55474212 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:55474212G>A ENST00000371265.4 + 4 1128 c.874G>A c.(874-876)Gag>Aag p.E292K NM_057176.2 NP_476517.1 Q8WZ55 BSND_HUMAN Bartter syndrome, infantile, with sensorineural deafness (Barttin) 292 basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex p.E292K(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 TGAGAAGGAAGAGGAAGACCT 0.587000 14 161 0 0 0.004007 0 0 BOLA1 51027 broad.mit.edu 37 1 149871771 149871771 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:149871771C>G ENST00000369153.2 + 3 823 c.159C>G c.(157-159)aaC>aaG p.N53K BOLA1_ENST00000476344.1_3'UTR|BOLA1_ENST00000369150.1_Missense_Mutation_p.N53K|BOLA1_ENST00000369152.5_Missense_Mutation_p.N53K Q9Y3E2 BOLA1_HUMAN bolA family member 1 53 extracellular region protein binding p.N53K(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 10 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) AGCTTCGCAACGAGAGCGGTG 0.682000 4 66 0 0 0.014758 0 0 CUL7 9820 broad.mit.edu 37 6 43020118 43020118 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr6:43020118G>C ENST00000535468.1 - 2 651 c.565C>G c.(565-567)Cta>Gta p.L189V CUL7_ENST00000265348.3_Missense_Mutation_p.L137V NM_001168370.1|NM_014780.4 NP_001161842.1|NP_055595.2 Q14999 CUL7_HUMAN cullin 7 137 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding p.L137V(1) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 49 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) GTGTGAAGTAGAGGAGCAGGA 0.557000 12 73 0 0 0.010729 0 0 PSMC6 5706 broad.mit.edu 37 14 53180639 53180639 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr14:53180639G>T ENST00000445930.2 + 7 530 c.524G>T c.(523-525)cGt>cTt p.R175L PSMC6_ENST00000606149.1_Missense_Mutation_p.R161L P62333 PRS10_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 6 161 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 cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|protein binding, bridging p.R175L(1)|p.R161L(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 19 Breast(41;0.176) TTATTTCAGCGTGTAGGAATA 0.308000 19 118 2.39187e-15 3.94317e-15 0.008871 1 0 PRG4 10216 broad.mit.edu 37 1 186276759 186276759 + Silent SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:186276759C>A ENST00000445192.2 + 7 1953 c.1908C>A c.(1906-1908)acC>acA p.T636T PRG4_ENST00000367486.3_Silent_p.T593T|PRG4_ENST00000367483.4_Silent_p.T595T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T543T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 636 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T636T(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACCCCTGAGAAGC 0.682000 8 26 4.68919e-08 6.17731e-08 0.008291 1 0 FEZ1 9638 broad.mit.edu 37 11 125359482 125359482 + Silent SNP A A G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr11:125359482A>G ENST00000278919.3 - 2 426 c.192T>C c.(190-192)aaT>aaC p.N64N FEZ1_ENST00000524435.1_Silent_p.N64N|FEZ1_ENST00000366139.3_Silent_p.N64N NM_005103.4 NP_005094.1 Q99689 FEZ1_HUMAN fasciculation and elongation protein zeta 1 (zygin I) 64 axon guidance|cell adhesion|transport microtubule|plasma membrane p.N64N(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 24 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934) CATCAAATTCATTTACGAGGT 0.488000 22 115 0 0 0.014323 0 0 DHRS7C 201140 broad.mit.edu 37 17 9674829 9674829 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr17:9674829C>A ENST00000330255.4 - 6 927 c.915G>T c.(913-915)aaG>aaT p.K305N DHRS7C_ENST00000571134.1_Missense_Mutation_p.K304N NM_001220493.1 NP_001207422.1 A6NNS2 DRS7C_HUMAN dehydrogenase/reductase (SDR family) member 7C 305 extracellular region binding|oxidoreductase activity p.K305N(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 15 GGACATTGAGCTTCTCCTTCA 0.582000 6 24 0.00116845 0.00127447 0.021553 1 0 RBL1 5933 broad.mit.edu 37 20 35632119 35632119 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr20:35632119C>A ENST00000373664.3 - 21 3088 c.3022G>T c.(3022-3024)Ggc>Tgc p.G1008C RBL1_ENST00000344359.3_Missense_Mutation_p.G1008C NM_002895.2 NP_002886.2 P28749 RBL1_HUMAN retinoblastoma-like 1 (p107) 1008 cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding p.G1008F(1) NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 42 Myeloproliferative disorder(115;0.00878) GAAGGGCTGCCATTGAACTTG 0.438000 23 142 7.4402e-23 1.32092e-22 0.021523 1 0 OR5M1 390168 broad.mit.edu 37 11 56380709 56380709 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr11:56380709C>T ENST00000526538.1 - 1 269 c.270G>A c.(268-270)aaG>aaA p.K90K NM_001004740.1 NP_001004740.1 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, member 1 90 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.K90N(1)|p.K90K(1) central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 AGGAGATGGTCTTCTGTTCTG 0.448000 12 62 0 0 0.016723 0 0 CARD14 79092 broad.mit.edu 37 17 78165189 78165189 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr17:78165189G>T ENST00000573882.1 + 10 1693 c.1157G>T c.(1156-1158)cGc>cTc p.R386L CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000570421.1_Missense_Mutation_p.R386L|CARD14_ENST00000392434.2_Missense_Mutation_p.R149L|CARD14_ENST00000344227.2_Missense_Mutation_p.R386L Q9BXL6 CAR14_HUMAN caspase recruitment domain family, member 14 386 activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding p.R386L(1)|p.R149L(1) NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1) 23 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) GACTCCCTCCGCAGGCAGGTG 0.662000 22 115 1.22574e-08 1.66021e-08 0.014323 1 0 HYI 81888 broad.mit.edu 37 1 43918609 43918609 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:43918609G>A ENST00000372434.1 - 3 382 c.351C>T c.(349-351)ggC>ggT p.G117G HYI_ENST00000372425.4_Intron|HYI_ENST00000372426.1_Silent_p.G44G|HYI_ENST00000372432.1_Intron|HYI_ENST00000583037.1_Intron|HYI_ENST00000486909.1_Intron NM_001243526.1 NP_001230455.1 Q5T013 HYI_HUMAN hydroxypyruvate isomerase (putative) 95 hydroxypyruvate isomerase activity large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2) 6 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) aatacaccaggcctcctcttg 0.537000 4 27 0 0 0.021553 0 0 SPZ1 84654 broad.mit.edu 37 5 79617271 79617271 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr5:79617271C>A ENST00000296739.4 + 1 1482 c.1237C>A c.(1237-1239)Cat>Aat p.H413N NM_032567.3 NP_115956.3 Q9BXG8 SPZ1_HUMAN spermatogenic leucine zipper 1 413 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding p.H413N(1) endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2) 26 Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36) GTTCAATATTCATGTTGCAAG 0.373000 22 127 1.55795e-14 2.504e-14 0.012319 1 0 SERPINA4 5267 broad.mit.edu 37 14 95030082 95030082 + Missense_Mutation SNP T T C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr14:95030082T>C ENST00000557004.1 + 2 684 c.263T>C c.(262-264)aTg>aCg p.M88T SERPINA4_ENST00000298841.5_Missense_Mutation_p.M88T|SERPINA4_ENST00000555095.1_Missense_Mutation_p.M88T|SERPINA5_ENST00000553780.1_Intron P29622 KAIN_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 88 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity p.M88T(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) GCCTACGCCATGCTTTCCCTG 0.597000 11 55 0 0 0.013537 0 0 ETAA1 54465 broad.mit.edu 37 2 67630780 67630780 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr2:67630780G>A ENST00000272342.5 + 5 1096 c.966G>A c.(964-966)gaG>gaA p.E322E ETAA1_ENST00000462772.1_Intron NM_019002.3 NP_061875.2 Q9NY74 ETAA1_HUMAN Ewing tumor-associated antigen 1 322 cytoplasm|nucleus p.E322E(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 33 TGAAAGAGGAGAAAATCATTA 0.373000 4 84 0 0 0.014758 0 0 PEAR1 375033 broad.mit.edu 37 1 156880491 156880491 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:156880491C>A ENST00000338302.3 + 16 2132 c.1907C>A c.(1906-1908)aCc>aAc p.T636N PEAR1_ENST00000292357.7_Missense_Mutation_p.T636N Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 636 EGF-like 8. integral to membrane p.T636N(1) breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TCGAACGGGACCTGCTACTGC 0.622000 5 31 2.17888e-05 2.58154e-05 0.006214 1 0 BCL11B 64919 broad.mit.edu 37 14 99641785 99641785 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr14:99641785G>A ENST00000345514.2 - 3 1441 c.1175C>T c.(1174-1176)gCg>gTg p.A392V BCL11B_ENST00000357195.3_Missense_Mutation_p.A463V|BCL11B_ENST00000443726.2_Missense_Mutation_p.A269V NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 463 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) CTGCGAGCACGCGTGGTCGCA 0.657000 T TLX3 T-ALL 3 34 0 0 0.004672 0 0 FLG2 388698 broad.mit.edu 37 1 152323527 152323527 + Silent SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:152323527G>C ENST00000388718.5 - 3 6807 c.6735C>G c.(6733-6735)tcC>tcG p.S2245S FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 2245 calcium ion binding|structural molecule activity p.S2245S(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CAGTTGTCCTGGACCCTCTCT 0.527000 73 483 0 0 0.014410 0 0 GRIK1 2897 broad.mit.edu 37 21 30934151 30934151 + Missense_Mutation SNP T T A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr21:30934151T>A ENST00000399914.1 - 14 2626 c.2105A>T c.(2104-2106)tAt>tTt p.Y702F GRIK1_ENST00000399909.1_Missense_Mutation_p.Y702F|GRIK1_ENST00000309434.7_Missense_Mutation_p.Y719F|GRIK1_ENST00000399913.1_Missense_Mutation_p.Y717F|GRIK1_ENST00000389124.2_Missense_Mutation_p.Y717F|GRIK1_ENST00000327783.4_Missense_Mutation_p.Y717F|GRIK1_ENST00000399907.1_Missense_Mutation_p.Y717F|GRIK1_ENST00000535441.1_Missense_Mutation_p.Y719F|GRIK1_ENST00000389125.3_Missense_Mutation_p.Y702F P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 717 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity p.Y717F(1)|p.Y702F(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) CATCTTCTCATAGGTGGAGAT 0.493000 4 33 0 0 0.009096 0 0 KLHL5 51088 broad.mit.edu 37 4 39116892 39116892 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr4:39116892G>T ENST00000261425.3 + 11 2167 c.2015G>T c.(2014-2016)gGa>gTa p.G672V KLHL5_ENST00000381930.3_Missense_Mutation_p.G718V|KLHL5_ENST00000261426.5_Missense_Mutation_p.G657V|KLHL5_ENST00000508137.2_Missense_Mutation_p.G531V|KLHL5_ENST00000504108.1_Missense_Mutation_p.G718V|KLHL5_ENST00000359687.2_Missense_Mutation_p.G718V|RP11-360F5.1_ENST00000509449.1_RNA NM_001007075.2 NP_001007076.1 Q96PQ7 KLHL5_HUMAN kelch-like family member 5 718 cytoplasm|cytoskeleton actin binding p.G718V(1) endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 GGGTATGATGGACAGGCATAC 0.448000 7 71 5.18039e-06 6.30609e-06 0.003080 1 0 DOCK2 1794 broad.mit.edu 37 5 169509814 169509814 + Silent SNP G G A rs140457281 by1000genomes TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr5:169509814G>A ENST00000256935.8 + 52 5525 c.5445G>A c.(5443-5445)tcG>tcA p.S1815S DOCK2_ENST00000520908.1_Silent_p.S1307S|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.S876S NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1815 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 p.S1815S(1) NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 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) CCAGCAAATCGGCTGAAGAAG 0.507000 11 61 0 0 0.010729 0 0 SYCP3 50511 broad.mit.edu 37 12 102131692 102131692 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr12:102131692A>T ENST00000392927.3 - 2 153 c.22T>A c.(22-24)Tat>Aat p.Y8N SYCP3_ENST00000392924.1_Missense_Mutation_p.Y8N|SYCP3_ENST00000266743.2_Missense_Mutation_p.Y8N NM_001177948.1|NM_001177949.1|NM_153694.4 NP_001171419.1|NP_001171420.1|NP_710161.1 Q8IZU3 SYCP3_HUMAN synaptonemal complex protein 3 8 cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins nucleus DNA binding p.Y8N(1) endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 11 TTCCTGGAATACTTTTTTCCG 0.378000 60 208 0 0 0.014410 0 0 TSHZ2 128553 broad.mit.edu 37 20 51872757 51872757 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr20:51872757C>T ENST00000371497.5 + 2 3647 c.2760C>T c.(2758-2760)gaC>gaT p.D920D RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Silent_p.D917D|TSHZ2_ENST00000329613.6_Silent_p.D917D NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 920 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.D920D(1) NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) AAAACATGGACAAAGGCCACC 0.473000 17 82 0 0 0.006122 0 0 UCP2 7351 broad.mit.edu 37 11 73686562 73686562 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr11:73686562C>T ENST00000310473.3 - 7 1631 c.789G>A c.(787-789)aaG>aaA p.K263K UCP2_ENST00000536983.1_Intron NM_003355.2 NP_003346.2 P55851 UCP2_HUMAN uncoupling protein 2 (mitochondrial, proton carrier) 263 proton transport|respiratory electron transport chain integral to membrane|mitochondrial inner membrane binding p.K263K(1) large_intestine(1)|lung(3)|prostate(1) 5 Breast(11;0.000112) GGGGCCCCTCCTTCTGGAGCA 0.587000 27 136 0 0 0.010818 0 0 TNN 63923 broad.mit.edu 37 1 175092757 175092757 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:175092757G>A ENST00000239462.4 + 12 2985 c.2872G>A c.(2872-2874)Ggg>Agg p.G958R NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 958 Fibronectin type-III 8. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix p.G958R(1) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GGCCCAGAAGGGGGCCCAGGA 0.612000 14 108 0 0 0.004007 0 0 SLITRK1 114798 broad.mit.edu 37 13 84455027 84455027 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr13:84455027C>T ENST00000377084.2 - 1 1501 c.616G>A c.(616-618)Gag>Aag p.E206K NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 206 integral to membrane p.E206K(1) NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) AGCAGGATCTCCGCAATACCA 0.547000 12 90 0 0 0.010729 0 0 BRSK1 84446 broad.mit.edu 37 19 55816254 55816254 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr19:55816254G>A ENST00000309383.1 + 14 1960 c.1683G>A c.(1681-1683)ctG>ctA p.L561L BRSK1_ENST00000326848.7_Silent_p.L256L|BRSK1_ENST00000590333.1_Silent_p.L577L|BRSK1_ENST00000588584.1_3'UTR NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 561 establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity p.L561L(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) ACAGCTTCCTGGGCTCCCCTC 0.657000 20 42 0 0 0.014323 0 0 OBSCN 84033 broad.mit.edu 37 1 228466474 228466474 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:228466474G>T ENST00000570156.2 + 31 8305 c.8231G>T c.(8230-8232)cGg>cTg p.R2744L OBSCN_ENST00000422127.1_Missense_Mutation_p.R2315L|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R2315L|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1162L|OBSCN_ENST00000366707.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1745 Ig-like 27. 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 p.R2499L(1)|p.R2315L(1)|p.R2369L(1)|p.R2598L(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CAGGTGTCCCGGGCCAGCGCC 0.652000 10 50 0.00829132 0.00876207 0.008291 1 0 RGS4 5999 broad.mit.edu 37 1 163039278 163039278 + Missense_Mutation SNP T T A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:163039278T>A ENST00000421743.2 + 2 455 c.295T>A c.(295-297)Tgc>Agc p.C99S RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000531057.1_Missense_Mutation_p.C2S|RGS4_ENST00000367909.6_Missense_Mutation_p.C2S|RGS4_ENST00000367908.4_Missense_Mutation_p.C2S|RGS4_ENST00000527809.1_Intron NM_001102445.2|NM_001113380.1 NP_001095915.1|NP_001106851.1 P49798 RGS4_HUMAN regulator of G-protein signaling 4 2 RGS. inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity p.C99S(1)|p.C2S(1) breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2) 21 AAATAAGATGTGCAAAGGGCT 0.458000 OREG0013952 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 57 0 0 0.020292 0 0 PDZD4 57595 broad.mit.edu 37 X 153068961 153068961 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:153068961G>T ENST00000164640.4 - 8 2348 c.2157C>A c.(2155-2157)aaC>aaA p.N719K PDZD4_ENST00000393758.2_Missense_Mutation_p.N644K|PDZD4_ENST00000544474.1_Missense_Mutation_p.N610K NM_032512.2 NP_115901.2 Q76G19 PDZD4_HUMAN PDZ domain containing 4 719 cell cortex p.N719K(1) breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1) 23 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGGCAATGATGTTGAGCTCGG 0.622000 7 105 0.00307968 0.00331525 0.003080 1 0 AKAP12 9590 broad.mit.edu 37 6 151669913 151669913 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr6:151669913G>A ENST00000402676.2 + 4 627 c.387G>A c.(385-387)gcG>gcA p.A129A AKAP12_ENST00000490177.1_3'UTR|AKAP12_ENST00000253332.1_Silent_p.A129A|AKAP12_ENST00000354675.6_Silent_p.A31A|AKAP12_ENST00000359755.5_Silent_p.A24A NM_005100.3 NP_005091.2 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 129 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding p.A129A(1) breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 68 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) CTAAGTCAGCGGTTGTTCACG 0.468000 8 86 0 0 0.006214 0 0 ABCB1 5243 broad.mit.edu 37 7 87179275 87179275 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr7:87179275G>T ENST00000265724.3 - 14 1863 c.1446C>A c.(1444-1446)acC>acA p.T482T ABCB1_ENST00000543898.1_Silent_p.T418T NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 482 ABC transporter 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity p.T482T(1) NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CAGCTATCGTGGTGGCAAACA 0.433000 45 240 5.7616e-29 1.05874e-28 0.014410 1 0 CLEC12B 387837 broad.mit.edu 37 12 10168296 10168296 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr12:10168296G>T ENST00000396502.1 + 5 778 c.650G>T c.(649-651)tGg>tTg p.W217L CLEC12B_ENST00000338896.5_Missense_Mutation_p.W217L|RP11-133L14.5_ENST00000544225.1_RNA NM_205852.2 NP_995324.2 Q2HXU8 CL12B_HUMAN C-type lectin domain family 12, member B 217 C-type lectin. integral to membrane|plasma membrane receptor activity|sugar binding p.W217L(2) central_nervous_system(2)|large_intestine(2)|lung(5) 9 AGTTGGTTCTGGGAAGATGGC 0.418000 30 101 2.08457e-15 3.44641e-15 0.010818 1 0 GP2 2813 broad.mit.edu 37 16 20331623 20331623 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr16:20331623G>T ENST00000302555.5 - 5 968 c.819C>A c.(817-819)acC>acA p.T273T GP2_ENST00000573897.1_5'UTR|GP2_ENST00000381360.5_Silent_p.T129T|GP2_ENST00000381362.4_Silent_p.T276T|GP2_ENST00000341642.5_Silent_p.T126T P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 276 ZP. anchored to membrane|extracellular region|plasma membrane p.T273T(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GGACGGGGCTGGTCACAGATA 0.567000 12 129 0.000308642 0.000348506 0.003163 1 0 CTNNBL1 56259 broad.mit.edu 37 20 36488711 36488711 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr20:36488711G>A ENST00000405275.2 + 16 1730 c.1487G>A c.(1486-1488)gGa>gAa p.G496E CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000373473.1_Missense_Mutation_p.G336E|CTNNBL1_ENST00000373469.1_Missense_Mutation_p.G271E|CTNNBL1_ENST00000361383.6_Missense_Mutation_p.G523E Q8WYA6 CTBL1_HUMAN catenin, beta like 1 523 apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins nucleus enzyme binding autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) AACATGCGAGGAAGCTCCATC 0.448000 7 225 0 0 0.004482 0 0 GATAD2A 54815 broad.mit.edu 37 19 19576209 19576209 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr19:19576209C>G ENST00000404158.1 + 4 473 c.55C>G c.(55-57)Cca>Gca p.P19A GATAD2A_ENST00000358713.3_Missense_Mutation_p.P19A|GATAD2A_ENST00000252577.5_Missense_Mutation_p.P19A|GATAD2A_ENST00000494516.1_3'UTR|GATAD2A_ENST00000360315.3_Missense_Mutation_p.P19A|GATAD2A_ENST00000537887.1_5'UTR Q86YP4 P66A_HUMAN GATA zinc finger domain containing 2A 19 DNA methylation|negative regulation of transcription, DNA-dependent nuclear speck|NuRD complex protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P19A(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 13 TGAACGGGACCCAACAGAGGA 0.493000 26 134 0 0 0.005443 0 0 ESPNL 339768 broad.mit.edu 37 2 239013434 239013434 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr2:239013434C>G ENST00000343063.3 + 3 886 c.623C>G c.(622-624)gCc>gGc p.A208G ESPNL_ENST00000409169.1_Missense_Mutation_p.A208G NM_194312.2 NP_919288.2 Q6ZVH7 ESPNL_HUMAN espin-like 208 p.A208G(1) endometrium(1)|lung(8)|pancreas(2)|skin(2) 13 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) GGCATGAGCGCCCTGCACGCT 0.672000 3 7 0 0 0.004672 0 0 MROH8 140699 broad.mit.edu 37 20 35737068 35737068 + Splice_Site SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr20:35737068C>A ENST00000400441.3 - 23 2914 c.e23-1 MROH8_ENST00000441008.2_Splice_Site|MROH8_ENST00000217333.8_Splice_Site maestro heat-like repeat family member 8 p.?(3) GATAAAAGGCCTAAAGGCAGG 0.423000 6 35 1.06961e-07 1.39002e-07 0.003080 1 0 ARHGEF2 9181 broad.mit.edu 37 1 155921320 155921320 + Missense_Mutation SNP G G A rs138090439 byFrequency TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:155921320G>A ENST00000368316.1 - 23 2599 c.2129C>T c.(2128-2130)gCg>gTg p.A710V ARHGEF2_ENST00000368315.3_Missense_Mutation_p.A739V|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.A710V|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.A738V|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.A737V Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 2 738 actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding p.A710V(1) breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2) 40 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) TCGCTGTAACGCCTCCTGAGG 0.562000 18 151 0 0 0.010504 0 0 MYLK 4638 broad.mit.edu 37 3 123419703 123419703 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr3:123419703C>A ENST00000360772.3 - 19 2990 c.2612G>T c.(2611-2613)gGg>gTg p.G871V MYLK_ENST00000359169.1_Missense_Mutation_p.G871V|MYLK_ENST00000360304.3_Missense_Mutation_p.G871V|MYLK_ENST00000346322.5_Missense_Mutation_p.G802V|MYLK_ENST00000475616.1_Missense_Mutation_p.G871V Q15746 MYLK_HUMAN myosin light chain kinase 871 5 X 28 AA approximate tandem repeats. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity p.G871V(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CTTCAGCACCCCTCGCACGTC 0.652000 28 130 1.1423e-28 2.09241e-28 0.009535 1 0 FYCO1 79443 broad.mit.edu 37 3 46023127 46023127 + Nonsense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr3:46023127C>A ENST00000296137.2 - 3 302 c.97G>T c.(97-99)Gaa>Taa p.E33* FYCO1_ENST00000535325.1_Nonsense_Mutation_p.E33* NM_024513.3 NP_078789.2 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 33 transport integral to membrane metal ion binding|protein binding p.E33*(1) NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 54 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) GTGATGGGTTCCCCTGCTTCC 0.398000 15 136 1.37285e-15 2.27625e-15 0.004007 1 0 NOTCH1 4851 broad.mit.edu 37 9 139413994 139413994 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr9:139413994C>G ENST00000277541.6 - 5 841 c.766G>C c.(766-768)Gaa>Caa p.E256Q NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 256 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.E256Q(2) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) TCGATATTTTCCTCACAGTTC 0.627000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 43 222 0 0 0.009718 0 0 KMT2C 58508 broad.mit.edu 37 7 151874497 151874497 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr7:151874497G>C ENST00000355193.2 - 38 8259 c.8041C>G c.(8041-8043)Cct>Gct p.P2681A KMT2C_ENST00000262189.6_Missense_Mutation_p.P2681A lysine (K)-specific methyltransferase 2C p.P2681A(2) CCATCAGAAGGCTGGGTGGTT 0.428000 12 112 0 0 0.020292 0 0 SPINK8 646424 broad.mit.edu 37 3 48362530 48362530 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr3:48362530C>G ENST00000434006.1 - 2 101 c.102G>C c.(100-102)caG>caC p.Q34H NM_001080525.1 NP_001073994.1 P0C7L1 ISK8_HUMAN serine peptidase inhibitor, Kazal type 8 (putative) 34 extracellular region serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|kidney(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) TTTTGTCTAGCTGACCTCTTT 0.478000 2 8 0 0 0.004672 0 0 UBQLN3 50613 broad.mit.edu 37 11 5529464 5529464 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr11:5529464G>C ENST00000311659.4 - 2 1472 c.1325C>G c.(1324-1326)cCt>cGt p.P442R HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 442 p.P442R(1) NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GACAAGATCAGGCAAGTTTGT 0.537000 19 135 0 0 0.007413 0 0 HTR3C 170572 broad.mit.edu 37 3 183773977 183773977 + Missense_Mutation SNP C C A rs149370364 TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr3:183773977C>A ENST00000318351.1 + 4 326 c.292C>A c.(292-294)Cct>Act p.P98T NM_130770.2 NP_570126.2 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic 98 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity p.P98T(1) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2) 32 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) ATGGGACAATCCTTTCATTAA 0.478000 12 129 0.00010058 0.000115377 0.013537 1 0 BAG6 7917 broad.mit.edu 37 6 31612763 31612763 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr6:31612763C>T ENST00000404765.2 - 10 1618 c.1329G>A c.(1327-1329)caG>caA p.Q443Q BAG6_ENST00000362049.6_Silent_p.Q443Q|BAG6_ENST00000375964.6_Silent_p.Q449Q|BAG6_ENST00000211379.5_Silent_p.Q443Q|BAG6_ENST00000375976.4_Silent_p.Q443Q|BAG6_ENST00000439687.2_Silent_p.Q443Q P46379 BAG6_HUMAN BCL2-associated athanogene 6 449 4 X 29 AA approximate repeats.|Pro-rich. apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding p.Q443Q(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2) 36 GTTCCACACTCTGGTGGGAAA 0.587000 21 360 0 0 0.016522 0 0 HAS1 3036 broad.mit.edu 37 19 52222512 52222512 + Nonsense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr19:52222512C>A ENST00000540069.2 - 2 706 c.646G>T c.(646-648)Gag>Tag p.E216* HAS1_ENST00000222115.1_Nonsense_Mutation_p.E217*|HAS1_ENST00000601714.1_Nonsense_Mutation_p.E224*|HAS1_ENST00000594621.1_Nonsense_Mutation_p.E71* Q92839 HAS1_HUMAN hyaluronan synthase 1 217 cell adhesion integral to plasma membrane hyaluronan synthase activity|protein binding p.E217*(1) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 40 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) TACATGACCTCGCGCTTGCCG 0.662000 5 43 0.000602214 0.000668226 0.014758 1 0 COL4A6 1288 broad.mit.edu 37 X 107422549 107422549 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:107422549C>A ENST00000394872.2 - 26 2485 c.2254G>T c.(2254-2256)Gac>Tac p.D752Y COL4A6_ENST00000545689.1_Missense_Mutation_p.D751Y|COL4A6_ENST00000538570.1_Missense_Mutation_p.D751Y|COL4A6_ENST00000334504.7_Missense_Mutation_p.D751Y|COL4A6_ENST00000372216.4_Missense_Mutation_p.D752Y Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 752 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding p.D751Y(1) breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 CCAAAGATGTCACCAGTGGCT 0.547000 Alport syndrome with Diffuse Leiomyomatosis 13 135 5.50884e-06 6.66373e-06 0.013537 1 0 BRD8 10902 broad.mit.edu 37 5 137488440 137488440 + Missense_Mutation SNP C C G rs148605042 by1000genomes TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr5:137488440C>G ENST00000254900.5 - 21 2958 c.2587G>C c.(2587-2589)Gag>Cag p.E863Q NM_139199.1 NP_631938.1 Q9H0E9 BRD8_HUMAN bromodomain containing 8 863 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity p.E863Q(1) breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) CAAACCCACTCGTGTCCCATC 0.438000 33 147 0 0 0.017118 0 0 ZEB2 9839 broad.mit.edu 37 2 145157678 145157678 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr2:145157678G>C ENST00000558170.2 - 8 2260 c.1076C>G c.(1075-1077)tCt>tGt p.S359C ZEB2_ENST00000303660.4_Missense_Mutation_p.S359C|ZEB2_ENST00000539609.3_Missense_Mutation_p.S335C|ZEB2_ENST00000409487.3_Missense_Mutation_p.S359C NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 359 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding p.S359C(1) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) AGTAGGAGAAGAAGAAACAGA 0.373000 18 61 0 0 0.006122 0 0 TG 7038 broad.mit.edu 37 8 133906105 133906105 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr8:133906105C>T ENST00000220616.4 + 11 2972 c.2932C>T c.(2932-2934)Ccc>Tcc p.P978S TG_ENST00000377869.1_Missense_Mutation_p.P978S NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 978 Thyroglobulin type-1 8. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity p.P978S(1) NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 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) GCTCTTCCCGCCCCGGGAGGC 0.602000 8 184 0 0 0.004482 0 0 CACNA1F 778 broad.mit.edu 37 X 49063289 49063289 + Silent SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:49063289C>G ENST00000376265.2 - 45 5353 c.5292G>C c.(5290-5292)ggG>ggC p.G1764G CACNA1F_ENST00000323022.5_Silent_p.G1753G|CACNA1F_ENST00000376251.1_Silent_p.G1699G NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 1764 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity p.G1764G(1) autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) ACGGGGGAGTCCCTGCCTGCT 0.637000 12 77 0 0 0.003163 0 0 H2BFWT 158983 broad.mit.edu 37 X 103268141 103268141 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:103268141C>G ENST00000217926.5 - 1 118 c.92G>C c.(91-93)gGa>gCa p.G31A NM_001002916.3 NP_001002916.2 Q7Z2G1 H2BWT_HUMAN H2B histone family, member W, testis-specific 31 nucleosome assembly nuclear membrane|nucleosome DNA binding p.G31A(1) breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 16 AGAGGAAGGTCCAGCCATGGC 0.612000 4 29 0 0 0.009096 0 0 ADCY1 107 broad.mit.edu 37 7 45744158 45744158 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr7:45744158G>T ENST00000297323.7 + 17 2782 c.2760G>T c.(2758-2760)aaG>aaT p.K920N NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 920 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|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding p.K920N(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) AGAAGATCAAGACCATCGGGA 0.502000 27 170 1.74807e-11 2.60629e-11 0.010818 1 0 PRKCQ 5588 broad.mit.edu 37 10 6527124 6527124 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr10:6527124C>T ENST00000263125.5 - 10 1107 c.1008G>A c.(1006-1008)ccG>ccA p.P336P PRKCQ_ENST00000397176.2_Silent_p.P336P|PRKCQ_ENST00000539722.1_Silent_p.P211P NM_006257.3 NP_006248.1 Q04759 KPCT_HUMAN protein kinase C, theta 336 axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity p.P336P(3) NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 CTCTTTTTCCCGGTGTCGGTA 0.433000 55 164 0 0 0.014410 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140869878 140869878 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr5:140869878C>A ENST00000252087.1 + 1 1071 c.1071C>A c.(1069-1071)aaC>aaA p.N357K PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB3_ENST00000576222.1_Intron NM_018929.2|NM_032403.2|NM_032407.1 NP_061752.1|NP_115779.1|NP_115783.1 Q9Y5F6 PCDGM_HUMAN 357 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.N357K(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTTGGCCAACCCTGTCCTAG 0.542000 14 86 2.35188e-11 3.47958e-11 0.006122 1 0 NID1 4811 broad.mit.edu 37 1 236187423 236187423 + Missense_Mutation SNP T T A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:236187423T>A ENST00000264187.6 - 9 2157 c.2075A>T c.(2074-2076)cAg>cTg p.Q692L NID1_ENST00000366595.3_Missense_Mutation_p.Q692L NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 692 EGF-like 2. cell-matrix adhesion basement membrane calcium ion binding p.Q692L(1) breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 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) GCAGGTGAACTGTGTCCTGGG 0.587000 6 55 0 0 0.004482 0 0 NRROS 375387 broad.mit.edu 37 3 196388131 196388131 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr3:196388131G>T ENST00000328557.4 + 3 1820 c.1617G>T c.(1615-1617)agG>agT p.R539S NM_198565.1 NP_940967.1 negative regulator of reactive oxygen species p.R539S(1) GGAATCTCAGGGACTTAGATC 0.567000 23 217 2.44723e-14 3.9007e-14 0.004656 1 0 ZKSCAN7 55888 broad.mit.edu 37 3 44611702 44611702 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr3:44611702C>G ENST00000273320.3 + 6 1529 c.1100C>G c.(1099-1101)tCt>tGt p.S367C RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.S367C NM_018651.2 NP_061121.2 zinc finger with KRAB and SCAN domains 7 p.S367C(1) CCACCTCTGTCTTCCAGTCCT 0.378000 17 156 0 0 0.007413 0 0 FLG 2312 broad.mit.edu 37 1 152281162 152281162 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:152281162G>T ENST00000368799.1 - 3 6235 c.6200C>A c.(6199-6201)cCc>cAc p.P2067H FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2067 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.P2067H(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGCTGATGGGGCCCAGCTTT 0.557000 Ichthyosis 92 482 2.0191e-50 3.8705e-50 0.014410 1 0 MYBL2 4605 broad.mit.edu 37 20 42340215 42340215 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr20:42340215C>T ENST00000217026.4 + 11 1820 c.1693C>T c.(1693-1695)Ccc>Tcc p.P565S MYBL2_ENST00000396863.4_Missense_Mutation_p.P541S NM_002466.2 NP_002457.1 P10244 MYBB_HUMAN v-myb avian myeloblastosis viral oncogene homolog-like 2 565 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.P565S(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 46 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) CGACATCAGGCCCGAGAAGCA 0.632000 6 28 0 0 0.001984 0 0 CLNK 116449 broad.mit.edu 37 4 10492234 10492234 + Missense_Mutation SNP A A G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr4:10492234A>G ENST00000226951.6 - 19 1383 c.1144T>C c.(1144-1146)Ttt>Ctt p.F382L CLNK_ENST00000515667.1_Missense_Mutation_p.F120L NM_052964.2 NP_443196.2 Q7Z7G1 CLNK_HUMAN cytokine-dependent hematopoietic cell linker 382 SH2. immune response|intracellular signal transduction intracellular SH3/SH2 adaptor activity p.F382L(2) NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1) 17 ACTGAATCAAACTTCTGAAAC 0.363000 2 10 0 0 0.004672 0 0 PRPF6 24148 broad.mit.edu 37 20 62612636 62612636 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr20:62612636C>T ENST00000535781.1 + 1 149 c.38C>T c.(37-39)gCg>gTg p.A13V ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron O94906 PRP6_HUMAN pre-mRNA processing factor 6 13 assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity p.A13V(1) breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) GGGATGCCCGCGCCCCTCGGC 0.677000 5 15 0 0 0.004482 0 0 NEK5 341676 broad.mit.edu 37 13 52663447 52663447 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr13:52663447G>T ENST00000355568.4 - 14 1350 c.1211C>A c.(1210-1212)cCt>cAt p.P404H NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 404 ATP binding|metal ion binding|protein serine/threonine kinase activity p.P461H(1)|p.P404H(1) breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) GTACTCAGCAGGCCTTAGAAA 0.328000 8 28 1.58986e-06 1.97705e-06 0.008291 1 0 SETD4 54093 broad.mit.edu 37 21 37429497 37429497 + Nonsense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr21:37429497C>A ENST00000399215.1 - 2 1451 c.79G>T c.(79-81)Gag>Tag p.E27* SETD4_ENST00000399208.2_Nonsense_Mutation_p.E27*|SETD4_ENST00000399205.1_Nonsense_Mutation_p.E3*|SETD4_ENST00000399201.1_Nonsense_Mutation_p.E3*|SETD4_ENST00000332131.4_Nonsense_Mutation_p.E27*|SETD4_ENST00000399207.1_Nonsense_Mutation_p.E27*|SETD4_ENST00000399212.1_Nonsense_Mutation_p.E3*|SETD4_ENST00000481477.1_5'UTR Q9NVD3 SETD4_HUMAN SET domain containing 4 27 p.E27*(1) autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1) 15 TTGTGGCTCTCATTCACTATC 0.383000 19 109 4.96729e-08 6.52876e-08 0.008871 1 0 TDRD5 163589 broad.mit.edu 37 1 179562680 179562680 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:179562680G>T ENST00000444136.1 + 3 568 c.318G>T c.(316-318)aaG>aaT p.K106N TDRD5_ENST00000294848.8_Missense_Mutation_p.K106N|TDRD5_ENST00000367614.1_Missense_Mutation_p.K106N NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 106 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding p.K106N(1) NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 CAATGCATAAGGGAAGACCTA 0.453000 21 82 3.62473e-10 5.13875e-10 0.012319 1 0 LPHN3 23284 broad.mit.edu 37 4 62758472 62758472 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr4:62758472G>T ENST00000512091.1 + 9 2122 c.1375G>T c.(1375-1377)Gtg>Ttg p.V459L LPHN3_ENST00000508946.1_Missense_Mutation_p.V459L|LPHN3_ENST00000514157.1_Missense_Mutation_p.V459L|LPHN3_ENST00000504896.1_Missense_Mutation_p.V459L|LPHN3_ENST00000509896.1_Missense_Mutation_p.V527L|LPHN3_ENST00000545650.1_Missense_Mutation_p.V459L|LPHN3_ENST00000508693.1_Missense_Mutation_p.V527L|LPHN3_ENST00000514996.1_Missense_Mutation_p.V459L|LPHN3_ENST00000507625.1_Missense_Mutation_p.V527L|LPHN3_ENST00000511324.1_Missense_Mutation_p.V527L|LPHN3_ENST00000514591.1_Missense_Mutation_p.V459L|LPHN3_ENST00000507164.1_Missense_Mutation_p.V527L|LPHN3_ENST00000506700.1_Missense_Mutation_p.V459L|LPHN3_ENST00000506746.1_Missense_Mutation_p.V527L|LPHN3_ENST00000506720.1_Missense_Mutation_p.V527L Q9HAR2 LPHN3_HUMAN latrophilin 3 459 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding p.V459L(3) breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 CACCCCGTCAGTGTCAGGAAG 0.532000 14 89 1.3612e-06 1.70372e-06 0.003163 1 0 ADAMTS4 9507 broad.mit.edu 37 1 161161242 161161242 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:161161242C>A ENST00000367996.4 - 9 2628 c.2200G>T c.(2200-2202)Ggc>Tgc p.G734C NM_005099.4 NP_005090.3 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 4 734 Spacer. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding p.G734C(2) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1) 43 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GCATAGGAGCCATCTGGCAGC 0.622000 13 107 1.05317e-09 1.47138e-09 0.020292 1 0 FAT2 2196 broad.mit.edu 37 5 150923860 150923860 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr5:150923860G>T ENST00000261800.5 - 9 6840 c.6828C>A c.(6826-6828)gtC>gtA p.V2276V NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 2276 Cadherin 20. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding p.V2276V(1) NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAGTGGTATAGACCAATTGGG 0.517000 28 133 5.61819e-17 9.451e-17 0.005443 1 0 CBLN2 147381 broad.mit.edu 37 18 70205991 70205991 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr18:70205991C>A ENST00000269503.4 - 4 1147 c.374G>T c.(373-375)gGc>gTc p.G125V CBLN2_ENST00000583651.1_5'UTR|CBLN2_ENST00000584764.1_Missense_Mutation_p.G9V|CBLN2_ENST00000585159.1_Missense_Mutation_p.G125V|CBLN2_ENST00000581073.1_Missense_Mutation_p.G11V NM_182511.3 NP_872317.1 Q8IUK8 CBLN2_HUMAN cerebellin 2 precursor 125 C1q. integral to membrane p.G125F(1) endometrium(2)|lung(15) 17 Esophageal squamous(42;0.131) AAAGTGGTTGCCAATATTTAC 0.423000 14 98 7.93312e-07 9.97257e-07 0.020292 1 0 NCCRP1 342897 broad.mit.edu 37 19 39691004 39691004 + Silent SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr19:39691004G>C ENST00000339852.4 + 5 589 c.567G>C c.(565-567)ctG>ctC p.L189L NM_001001414.1 NP_001001414.1 Q6ZVX7 NCRP1_HUMAN non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) 189 FBA. protein catabolic process p.L189L(1) kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 10 ACAGCCGGCTGGATGCGTGCG 0.652000 41 108 0 0 0.014410 0 0 RILP 83547 broad.mit.edu 37 17 1551212 1551212 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr17:1551212G>A ENST00000301336.6 - 6 1133 c.861C>T c.(859-861)ctC>ctT p.L287L NM_031430.2 NP_113618.2 Q96NA2 RILP_HUMAN Rab interacting lysosomal protein 287 Necessary for the interaction with RAB7 and RAB34, lysosomal distribution and morphology. endosome to lysosome transport|protein transport late endosome membrane|lysosomal membrane|phagocytic vesicle membrane Rab GTPase binding p.L287L(1) endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4) 15 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) TCATGGCCTCGAGCAGAAGGC 0.607000 5 88 0 0 0.003080 0 0 PKD1L1 168507 broad.mit.edu 37 7 47897406 47897406 + Missense_Mutation SNP T T A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr7:47897406T>A ENST00000289672.2 - 28 4437 c.4387A>T c.(4387-4389)Agc>Tgc p.S1463C NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1463 REJ. cell-cell adhesion integral to membrane p.S1463C(1) BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 TGCCCAGTGCTAACATGGTTC 0.478000 17 67 0 0 0.010504 0 0 OLFML2B 25903 broad.mit.edu 37 1 161953664 161953664 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:161953664G>A ENST00000294794.3 - 8 2477 c.2054C>T c.(2053-2055)gCc>gTc p.A685V OLFML2B_ENST00000367940.2_Missense_Mutation_p.A686V|OLFML2B_ENST00000367938.1_Missense_Mutation_p.A168V NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 685 Olfactomedin-like. p.A685V(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) GCTATCCACGGCATACAGCAC 0.562000 6 226 0 0 0.021553 0 0 SLC9A2 6549 broad.mit.edu 37 2 103311549 103311549 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr2:103311549G>C ENST00000233969.2 + 7 1705 c.1563G>C c.(1561-1563)tgG>tgC p.W521C SLC9A2_ENST00000469286.1_3'UTR NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 521 integral to membrane|plasma membrane sodium:hydrogen antiporter activity p.W521C(1) breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 GTGGACATTGGGGTCACAACT 0.373000 13 219 0 0 0.003163 0 0 GALR1 2587 broad.mit.edu 37 18 74962576 74962576 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr18:74962576G>A ENST00000299727.3 + 1 72 c.72G>A c.(70-72)ggG>ggA p.G24G NM_001480.3 NP_001471.2 P47211 GALR1_HUMAN galanin receptor 1 24 digestion|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity p.G24G(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104) CGGAGCCCGGGCCGCTGTTCG 0.721000 3 6 0 0 0.004672 0 0 C2orf49 79074 broad.mit.edu 37 2 105959478 105959478 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr2:105959478C>G ENST00000258457.2 + 3 669 c.440C>G c.(439-441)tCg>tGg p.S147W C2orf49_ENST00000410049.1_Intron|C2orf49_ENST00000437250.2_Intron Q9BVC5 ASHWN_HUMAN chromosome 2 open reading frame 49 147 tRNA-splicing ligase complex endometrium(1)|kidney(1)|large_intestine(3)|lung(1) 6 AATTCCTCTTCGAGTGTTTCA 0.393000 4 151 0 0 0.014758 0 0 BRINP3 339479 broad.mit.edu 37 1 190067913 190067913 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:190067913G>T ENST00000367462.3 - 8 1767 c.1536C>A c.(1534-1536)gcC>gcA p.A512A FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.A410A NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 512 extracellular region p.A512A(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) TGATAAAAATGGCATGGACTT 0.463000 36 186 2.6416e-12 4.13063e-12 0.006230 1 0 SULT1C4 27233 broad.mit.edu 37 2 108998221 108998221 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr2:108998221C>A ENST00000272452.2 + 2 499 c.173C>A c.(172-174)aCa>aAa p.T58K SULT1C4_ENST00000409309.3_Missense_Mutation_p.T58K NM_006588.2 NP_006579.2 O75897 ST1C4_HUMAN sulfotransferase family, cytosolic, 1C, member 4 58 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol sulfotransferase activity p.T58K(1) endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 12 ACGTAAGGAACAACATGGACT 0.353000 19 94 1.01871e-10 1.46949e-10 0.008871 1 0 TMEM2 23670 broad.mit.edu 37 9 74305045 74305045 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr9:74305045G>A ENST00000377044.4 - 22 4353 c.3814C>T c.(3814-3816)Cgc>Tgc p.R1272C TMEM2_ENST00000396272.3_Missense_Mutation_p.R265C|TMEM2_ENST00000377066.5_Missense_Mutation_p.R1209C NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 1272 integral to membrane p.R1272C(1) central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 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) TCTTCAATGCGACTGACATCA 0.488000 12 218 0 0 0.013537 0 0 CLVS1 157807 broad.mit.edu 37 8 62212572 62212572 + Silent SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr8:62212572C>G ENST00000519846.1 + 3 658 c.186C>G c.(184-186)acC>acG p.T62T CLVS1_ENST00000325897.4_Silent_p.T62T|CLVS1_ENST00000518592.1_Intron Q8IUQ0 CLVS1_HUMAN clavesin 1 62 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity p.T62T(1) endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 TGATCATCACCAGGCCTGACA 0.473000 10 47 0 0 0.016723 0 0 CHL1 10752 broad.mit.edu 37 3 440019 440019 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr3:440019G>T ENST00000256509.2 + 25 3846 c.3204G>T c.(3202-3204)tgG>tgT p.W1068C CHL1_ENST00000397491.2_Missense_Mutation_p.W1052C NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 1052 axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix p.W1068C(1) NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 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) CTAAGAATTGGGGCGATAATG 0.393000 6 89 3.27435e-08 4.36328e-08 0.020292 1 0 KCNA7 3743 broad.mit.edu 37 19 49573799 49573799 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr19:49573799G>T ENST00000221444.1 - 2 1247 c.892C>A c.(892-894)Ctg>Atg p.L298M NM_031886.2 NP_114092.2 Q96RP8 KCNA7_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 7 298 voltage-gated potassium channel complex voltage-gated potassium channel activity p.L298M(1) central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2) 11 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441) AAGATTTGCAGGCCCTTTGAG 0.597000 22 72 4.35082e-09 5.97719e-09 0.010504 1 0 CNTNAP2 26047 broad.mit.edu 37 7 146818215 146818215 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr7:146818215G>T ENST00000361727.3 + 6 1415 c.899G>T c.(898-900)cGt>cTt p.R300L NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 300 Laminin G-like 1. 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 p.R300L(1)|p.R300H(1) NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 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) CAGCACTTCCGTACCAATGGA 0.483000 HNSCC(39;0.1) 12 61 1.36491e-13 2.16957e-13 0.016723 1 0 PABPC5 140886 broad.mit.edu 37 X 90690839 90690839 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:90690839C>T ENST00000312600.3 + 2 477 c.263C>T c.(262-264)cCa>cTa p.P88L PABPC5_ENST00000373105.1_Intron NM_080832.2 NP_543022.1 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 88 RRM 1. cytoplasm nucleotide binding|RNA binding p.P88L(1) central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1) 42 AATGGAAAACCATTCCGCCTT 0.473000 17 76 0 0 0.004007 0 0 AHNAK 79026 broad.mit.edu 37 11 62284435 62284435 + Silent SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr11:62284435C>G ENST00000378024.4 - 5 17728 c.17454G>C c.(17452-17454)ggG>ggC p.G5818G AHNAK_ENST00000525875.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 5818 nervous system development nucleus protein binding p.G5818G(1) NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) ATTTCAGCTTCCCGTGTTTCC 0.517000 32 179 0 0 0.010818 0 0 FMNL1 752 broad.mit.edu 37 17 43323891 43323891 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr17:43323891C>T ENST00000331495.3 + 26 3567 c.3231C>T c.(3229-3231)ttC>ttT p.F1077F FMNL1_ENST00000328118.3_Intron|CTD-2020K17.4_ENST00000420431.2_RNA|FMNL1_ENST00000587489.1_Intron NM_005892.3 NP_005883.2 O95466 FMNL_HUMAN formin-like 1 1077 DAD. actin cytoskeleton organization actin binding|Rho GTPase binding p.F1077F(2) biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2) 33 CGGTGCCCTTCACGGCCCGCA 0.582000 OREG0024478 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 81 0 0 0.008291 0 0 RNF128 79589 broad.mit.edu 37 X 106038880 106038880 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:106038880C>G ENST00000255499.2 + 7 1474 c.1224C>G c.(1222-1224)aaC>aaG p.N408K RNF128_ENST00000324342.3_Missense_Mutation_p.N382K NM_194463.1 NP_919445.1 Q8TEB7 RN128_HUMAN ring finger protein 128, E3 ubiquitin protein ligase 408 endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding p.N382K(1)|p.N408K(1) central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1) 11 ATGTTGACAACCCAACCTTTG 0.338000 18 264 0 0 0.010504 0 0 C1orf168 199920 broad.mit.edu 37 1 57209875 57209875 + Silent SNP A A G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:57209875A>G ENST00000343433.6 - 10 1532 c.1452T>C c.(1450-1452)agT>agC p.S484S C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 484 p.S484S(1) NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 CCGAGATGGAACTTGTCTTAG 0.418000 17 130 0 0 0.007413 0 0 FXR1 8087 broad.mit.edu 37 3 180685989 180685989 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr3:180685989C>T ENST00000357559.4 + 14 1733 c.1349C>T c.(1348-1350)tCa>tTa p.S450L FXR1_ENST00000445140.2_Missense_Mutation_p.S450L|FXR1_ENST00000491062.1_Missense_Mutation_p.S401L|FXR1_ENST00000305586.7_Missense_Mutation_p.S365L|FXR1_ENST00000468861.1_Missense_Mutation_p.S365L|FXR1_ENST00000480918.1_Missense_Mutation_p.S437L NM_001013438.2|NM_005087.3 NP_001013456.1|NP_005078.2 P51114 FXR1_HUMAN fragile X mental retardation, autosomal homolog 1 450 RNA-binding RGG-box. apoptosis|cell differentiation|muscle organ development nucleolus|polysome p.S450L(1) breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2) 26 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) AGAAGTGTTTCAGGGGGTCGA 0.512000 13 48 0 0 0.020292 0 0 CDH23 64072 broad.mit.edu 37 10 73574861 73574861 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr10:73574861C>T ENST00000224721.6 + 69 9911 c.9906C>T c.(9904-9906)ctC>ctT p.L3302L CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.L1057L NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 3297 calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding p.L3302L(1) NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CCACCGACCTCAACAGCCTGC 0.682000 3 15 0 0 0.004672 0 0 FLNC 2318 broad.mit.edu 37 7 128477288 128477288 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr7:128477288G>T ENST00000325888.8 + 3 937 c.676G>T c.(676-678)Gac>Tac p.D226Y FLNC_ENST00000346177.6_Missense_Mutation_p.D226Y NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 226 Actin-binding.|CH 2. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding p.D226Y(1) biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GCAGCAGGCCGACGACTGGCT 0.672000 3 11 1.024e-07 1.33979e-07 0.014758 1 0 CLN3 1201 broad.mit.edu 37 16 28488846 28488846 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr16:28488846C>T ENST00000569430.1 - 17 2127 c.1308G>A c.(1306-1308)caG>caA p.Q436Q CLN3_ENST00000568224.1_Silent_p.Q358Q|CLN3_ENST00000395653.4_Silent_p.Q336Q|CLN3_ENST00000355477.5_Silent_p.Q388Q|CLN3_ENST00000354630.5_Silent_p.Q419Q|CLN3_ENST00000565316.1_Silent_p.Q419Q|CLN3_ENST00000333496.9_Silent_p.Q412Q|CLN3_ENST00000567963.1_Silent_p.Q339Q|CLN3_ENST00000535392.1_Silent_p.Q358Q|CLN3_ENST00000359984.7_Silent_p.Q436Q|CLN3_ENST00000360019.2_Silent_p.Q436Q|CLN3_ENST00000357857.9_Silent_p.Q382Q|CLN3_ENST00000357806.7_Silent_p.Q337Q Q13286 CLN3_HUMAN ceroid-lipofuscinosis, neuronal 3 436 amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network unfolded protein binding p.Q436Q(1) breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1) 15 ATCAGGAGAGCTGGCAGAGGA 0.612000 16 73 0 0 0.004007 0 0 TAF1L 138474 broad.mit.edu 37 9 32631299 32631299 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr9:32631299G>T ENST00000242310.4 - 1 4368 c.4279C>A c.(4279-4281)Cca>Aca p.P1427T NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1427 Bromo 1. 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 p.P1427T(1) breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GCATTGACTGGAGTGTGGAAA 0.478000 89 285 4.78148e-37 8.9867e-37 0.014410 1 0 PCDHA6 56142 broad.mit.edu 37 5 140209948 140209948 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr5:140209948G>T ENST00000529310.1 + 1 2386 c.2272G>T c.(2272-2274)Gtg>Ttg p.V758L PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 p.V758L(2) NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGGCAGAGGGTGTGCTCCGG 0.637000 12 43 2.80697e-09 3.88399e-09 0.010729 1 0 OR10H4 126541 broad.mit.edu 37 19 16060156 16060156 + Silent SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr19:16060156C>A ENST00000322107.1 + 1 339 c.339C>A c.(337-339)tcC>tcA p.S113S NM_001004465.1 NP_001004465.1 Q8NGA5 O10H4_HUMAN olfactory receptor, family 10, subfamily H, member 4 113 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S113S(1) breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 17 TCACTCACTCCTTCCTTCTCC 0.532000 82 360 1.11057e-38 2.10098e-38 0.014410 1 0 GIPC3 126326 broad.mit.edu 37 19 3589536 3589536 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr19:3589536G>T ENST00000322315.5 + 4 733 c.688G>T c.(688-690)Gcc>Tcc p.A230S NM_133261.2 NP_573568.1 Q8TF64 GIPC3_HUMAN GIPC PDZ domain containing family, member 3 230 p.A230S(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18) TGGGGGGGCTGCCACagtgga 0.597000 24 34 1.39806e-14 2.26595e-14 0.008361 1 0 CROCCP2 84809 broad.mit.edu 37 1 16946407 16946407 + RNA SNP T T G rs10796418 by1000genomes TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:16946407T>G ENST00000412962.1 - 0 1112 AGCAATCTCCTCACTCAGCTG 0.672000 6 30 0 0 0.006214 0 0 GRIN1 2902 broad.mit.edu 37 9 140058266 140058266 + Silent SNP C C A rs146086141 by1000genomes TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr9:140058266C>A ENST00000371561.3 + 18 3596 c.2499C>A c.(2497-2499)atC>atA p.I833I GRIN1_ENST00000371550.4_Silent_p.I833I|GRIN1_ENST00000371546.4_Silent_p.I854I|GRIN1_ENST00000315048.3_Silent_p.I833I|GRIN1_ENST00000371553.3_Silent_p.I854I|GRIN1_ENST00000350902.5_Silent_p.I833I|GRIN1_ENST00000371555.4_Silent_p.I854I|GRIN1_ENST00000371560.3_Silent_p.I854I|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371559.4_Silent_p.I833I NM_007327.3 NP_015566.1 Q05586 NMDZ1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 1 833 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding p.I833I(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) TGATTTTCATCGAGATTGCCT 0.622000 24 86 1.33986e-20 2.33565e-20 0.004656 1 0 BMP10 27302 broad.mit.edu 37 2 69093486 69093486 + Silent SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr2:69093486C>A ENST00000295379.1 - 2 710 c.552G>T c.(550-552)ctG>ctT p.L184L NM_014482.1 NP_055297.1 O95393 BMP10_HUMAN bone morphogenetic protein 10 184 activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis cell surface|extracellular space|Z disc cytokine activity|growth factor activity|receptor serine/threonine kinase binding p.L184L(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2) 27 ACACCAAGACCAGCATGTTTC 0.463000 14 99 4.3838e-07 5.57148e-07 0.016723 1 0 UNC13A 23025 broad.mit.edu 37 19 17759401 17759401 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr19:17759401G>T ENST00000428389.2 - 17 1918 c.1919C>A c.(1918-1920)aCg>aAg p.T640K UNC13A_ENST00000550896.1_Missense_Mutation_p.T550K|UNC13A_ENST00000252773.7_Missense_Mutation_p.T552K|UNC13A_ENST00000519716.2_Missense_Mutation_p.T552K|UNC13A_ENST00000552293.1_Missense_Mutation_p.T552K|UNC13A_ENST00000551649.1_Missense_Mutation_p.T552K Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 552 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding p.T552K(1)|p.T640K(1) breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 GTTGTGTGGCGTCGTGCACGA 0.617000 36 102 1.6237e-14 2.60243e-14 0.013114 1 0 ABCB7 22 broad.mit.edu 37 X 74273349 74273349 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:74273349C>G ENST00000253577.3 - 16 2142 c.2118G>C c.(2116-2118)tgG>tgC p.W706C ABCB7_ENST00000373394.3_Missense_Mutation_p.W705C|ABCB7_ENST00000339447.4_Missense_Mutation_p.W665C NM_001271696.1|NM_004299.3 NP_001258625.1|NP_004290.2 O75027 ABCB7_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 7 705 ABC transporter. cellular iron ion homeostasis integral to membrane|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity p.W706C(1) breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1) 20 TCTGTGTATGCCACATTTCTG 0.423000 6 40 0 0 0.021553 0 0 LONP1 9361 broad.mit.edu 37 19 5705941 5705941 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr19:5705941G>A ENST00000360614.3 - 8 1366 c.1209C>T c.(1207-1209)atC>atT p.I403I LONP1_ENST00000585374.1_Silent_p.I289I|LONP1_ENST00000540670.2_Silent_p.I207I|LONP1_ENST00000593119.1_Silent_p.I339I|LONP1_ENST00000590729.1_Silent_p.I273I NM_004793.2 NP_004784.2 P36776 LONM_HUMAN lon peptidase 1, mitochondrial 403 cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding p.I403I(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GCTCCTTCTTGATGATCTTTA 0.597000 42 153 0 0 0.014410 0 0 VGLL1 51442 broad.mit.edu 37 X 135618242 135618242 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:135618242G>A ENST00000370634.3 + 2 233 c.63G>A c.(61-63)acG>acA p.T21T NM_016267.3 NP_057351.1 Q99990 VGLL1_HUMAN vestigial like 1 (Drosophila) 21 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus transcription coactivator activity p.T21T(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(192;0.000127) CTATAAAGACGGAATGGAATT 0.493000 6 115 0 0 0.003080 0 0 AKNAD1 254268 broad.mit.edu 37 1 109395169 109395169 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:109395169C>A ENST00000370001.3 - 2 386 c.118G>T c.(118-120)Ggc>Tgc p.G40C AKNAD1_ENST00000369994.1_Missense_Mutation_p.G40C|AKNAD1_ENST00000369995.3_Missense_Mutation_p.G40C|AKNAD1_ENST00000357393.4_Intron NM_152763.4 NP_689976.2 Q5T1N1 AKND1_HUMAN AKNA domain containing 1 40 p.G40C(1) breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2) 32 ACTTCAAGGCCATCCTTTTTT 0.403000 26 149 7.38237e-10 1.03389e-09 0.006320 1 0 SLA2 84174 broad.mit.edu 37 20 35262953 35262953 + Missense_Mutation SNP G G A rs145656453 byFrequency TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr20:35262953G>A ENST00000262866.4 - 3 553 c.131C>T c.(130-132)cCg>cTg p.P44L SLA2_ENST00000360672.2_Missense_Mutation_p.P44L NM_032214.3|NM_175077.2 NP_115590.1|NP_778252.1 Q9H6Q3 SLAP2_HUMAN Src-like-adaptor 2 44 SH3. antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane protein N-terminus binding|SH3/SH2 adaptor activity p.P44L(1) endometrium(1)|lung(2)|skin(2) 5 Breast(12;0.114) Myeloproliferative disorder(115;0.00878) GCCACCTGCCGGGAAACTGCC 0.567000 4 54 0 0 0.021553 0 0 DOCK10 55619 broad.mit.edu 37 2 225688308 225688308 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr2:225688308G>T ENST00000409592.3 - 28 3188 c.3075C>A c.(3073-3075)gtC>gtA p.V1025V DOCK10_ENST00000258390.7_Silent_p.V1031V Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1031 GTP binding p.V1029V(1) NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) ATAGGACCATGACAAGATTGT 0.413000 17 91 1.67942e-08 2.26407e-08 0.006122 1 0 C2CD5 9847 broad.mit.edu 37 12 22676358 22676358 + Splice_Site SNP A A C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr12:22676358A>C ENST00000333957.4 - 7 1056 c.e7+1 C2CD5_ENST00000446597.1_Splice_Site|C2CD5_ENST00000544930.1_Splice_Site|C2CD5_ENST00000396028.2_Splice_Site|C2CD5_ENST00000545552.1_Splice_Site|C2CD5_ENST00000542676.1_Splice_Site|C2CD5_ENST00000536386.1_Splice_Site|C2CD5_ENST00000540703.1_Splice_Site NM_014802.1 NP_055617.1 C2 calcium-dependent domain containing 5 p.?(2) ATTCATACTTACTCCTTCATT 0.363000 8 70 0 0 0.004482 0 0 PLAC1 10761 broad.mit.edu 37 X 133700520 133700520 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:133700520G>T ENST00000359237.4 - 3 478 c.193C>A c.(193-195)Cat>Aat p.H65N PLAC1_ENST00000476971.1_5'UTR NM_021796.3 NP_068568.1 Q9HBJ0 PLAC1_HUMAN placenta-specific 1 65 placenta development extracellular region p.H65N(1) large_intestine(4)|lung(1)|pancreas(1) 6 Acute lymphoblastic leukemia(192;0.000127) GGCTGAACATGGTTTGGGGGG 0.502000 29 205 7.26314e-15 1.18052e-14 0.007291 1 0 CHD8 57680 broad.mit.edu 37 14 21870599 21870599 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr14:21870599G>A ENST00000399982.2 - 18 3842 c.3778C>T c.(3778-3780)Cgt>Tgt p.R1260C CHD8_ENST00000430710.3_Missense_Mutation_p.R981C|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000557364.1_Missense_Mutation_p.R1260C NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 1260 Helicase C-terminal. 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 p.R1260C(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) TAGGAATTACGAGTGATGAGG 0.473000 4 75 0 0 0.009096 0 0 IGFBP3 3486 broad.mit.edu 37 7 45957004 45957004 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr7:45957004G>T ENST00000275521.6 - 2 571 c.438C>A c.(436-438)gcC>gcA p.A146A IGFBP3_ENST00000381086.5_Silent_p.A49A|IGFBP3_ENST00000381083.4_Silent_p.A152A|IGFBP3_ENST00000465642.1_5'UTR NM_000598.4|NM_001013398.1 NP_000589.2|NP_001013416.1 P17936 IBP3_HUMAN insulin-like growth factor binding protein 3 146 Ser/Thr-rich. negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth nucleus insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity p.A146A(1) large_intestine(6)|lung(7)|pancreas(1)|prostate(3) 17 Mecasermin(DB01277) CCACACTGCCGGCGCTGCGGT 0.498000 OREG0018049 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 109 2.94398e-08 3.94125e-08 0.007413 1 0 HSP90AA1 3320 broad.mit.edu 37 14 102549392 102549392 + Missense_Mutation SNP T T C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr14:102549392T>C ENST00000334701.7 - 10 2381 c.2100A>G c.(2098-2100)atA>atG p.I700M HSP90AA1_ENST00000441629.2_Missense_Mutation_p.I399M|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.I578M NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 578 Required for homodimerization. axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding p.I700M(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) TTTTCTCCAATatgtctttca 0.373000 20 63 0 0 0.010504 0 0 SST 6750 broad.mit.edu 37 3 187387015 187387015 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr3:187387015C>T ENST00000287641.3 - 2 296 c.189G>A c.(187-189)acG>acA p.T63T NM_001048.3 NP_001039.1 P61278 SMS_HUMAN somatostatin 63 digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission extracellular space hormone activity p.T63T(2) kidney(1)|large_intestine(1)|lung(6)|pancreas(1) 9 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.00444) Bromocriptine(DB01200)|Cysteamine(DB00847) CATCATTCTCCGTCTGGTTGG 0.517000 48 443 0 0 0.014410 0 0 ZNF445 353274 broad.mit.edu 37 3 44489616 44489616 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr3:44489616C>G ENST00000425708.2 - 7 1888 c.1547G>C c.(1546-1548)aGg>aCg p.R516T ZNF445_ENST00000396077.2_Missense_Mutation_p.R516T P59923 ZN445_HUMAN zinc finger protein 445 516 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R516T(1) breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3) 31 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) CCCACACACCCTACATTTAAA 0.448000 7 140 0 0 0.008291 0 0 RFT1 91869 broad.mit.edu 37 3 53160012 53160012 + Splice_Site SNP T T A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr3:53160012T>A ENST00000296292.3 - 2 125 c.e2-2 RFT1_ENST00000394738.3_Splice_Site NM_052859.3 NP_443091.1 Q96AA3 RFT1_HUMAN RFT1 homolog (S. cerevisiae) carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane lipid transporter activity p.?(1) NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2) 12 BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104) AAACAACACCTATAGAAAAAG 0.368000 4 23 0 0 0.009096 0 0 WISP2 8839 broad.mit.edu 37 20 43353577 43353577 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr20:43353577C>A ENST00000372868.2 + 4 819 c.476C>A c.(475-477)cCt>cAt p.P159H WISP2_ENST00000190983.4_Missense_Mutation_p.P159H|WISP2_ENST00000372865.4_Intron|RP11-445H22.4_ENST00000427598.1_RNA|RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000471629.1_3'UTR O76076 WISP2_HUMAN WNT1 inducible signaling pathway protein 2 159 VWFC. cell adhesion|cell-cell signaling|signal transduction extracellular region|soluble fraction insulin-like growth factor binding p.P159H(1) skin(1) 1 Myeloproliferative disorder(115;0.0122) AAGTGCTGCCCTGAGTGGGTG 0.716000 3 14 0.004672 0.00498289 0.004672 1 0 CDH9 1007 broad.mit.edu 37 5 26881265 26881265 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr5:26881265C>A ENST00000231021.4 - 12 2522 c.2350G>T c.(2350-2352)Gat>Tat p.D784Y NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 784 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D784Y(1) breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 TCACTATCATCACCCCCATAC 0.418000 36 204 6.2361e-21 1.09369e-20 0.007835 1 0 TRIM9 114088 broad.mit.edu 37 14 51489622 51489622 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr14:51489622G>T ENST00000298355.3 - 3 2093 c.972C>A c.(970-972)atC>atA p.I324I TRIM9_ENST00000338969.5_Silent_p.I324I|TRIM9_ENST00000360392.4_Silent_p.I324I NM_015163.5 NP_055978.4 Q9C026 TRIM9_HUMAN tripartite motif containing 9 324 proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding p.I324I(2) breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_epithelial(31;0.00418)|Breast(41;0.148) TGAGGGCATCGATGAGGGCAT 0.537000 8 120 0.00829132 0.00876207 0.008291 1 0 YLPM1 56252 broad.mit.edu 37 14 75265213 75265213 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr14:75265213G>T ENST00000325680.7 + 5 3337 c.3213G>T c.(3211-3213)aaG>aaT p.K1071N YLPM1_ENST00000238571.3_Missense_Mutation_p.K876N|YLPM1_ENST00000552421.1_Intron NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 876 Arg-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck p.K1071N(1)|p.K876N(1) breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) GTCGAGAGAAGATGAACAGAG 0.557000 18 97 5.3912e-06 6.54889e-06 0.006122 1 0 BTBD3 22903 broad.mit.edu 37 20 11903469 11903469 + Nonsense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr20:11903469C>T ENST00000405977.1 + 5 1349 c.724C>T c.(724-726)Cag>Tag p.Q242* BTBD3_ENST00000254977.3_Nonsense_Mutation_p.Q181*|BTBD3_ENST00000399006.2_Nonsense_Mutation_p.Q181*|BTBD3_ENST00000378226.2_Nonsense_Mutation_p.Q242*|BTBD3_ENST00000488503.1_3'UTR Q9Y2F9 BTBD3_HUMAN BTB (POZ) domain containing 3 242 p.Q242*(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2) 34 AGACCTGACCCAGCGTTGCTG 0.537000 21 92 0 0 0.012319 0 0 FAM13B 51306 broad.mit.edu 37 5 137346774 137346774 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr5:137346774G>A ENST00000033079.3 - 6 1064 c.613C>T c.(613-615)Ctg>Ttg p.L205L FAM13B_ENST00000425075.2_Silent_p.L87L|FAM13B_ENST00000420893.2_Silent_p.L205L NM_016603.2 NP_057687.2 Q9NYF5 FA13B_HUMAN family with sequence similarity 13, member B 205 Glu-rich.|Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.L87L(1)|p.L205L(1) endometrium(4)|kidney(2)|lung(5) 11 TAGTTTTCCAGAAGTCCAGCC 0.348000 15 122 0 0 0.020292 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125660630 125660630 + Missense_Mutation SNP T T C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr2:125660630T>C ENST00000431078.1 + 22 3969 c.3605T>C c.(3604-3606)aTg>aCg p.M1202T NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 1202 cell adhesion|signal transduction integral to membrane receptor binding p.M1202T(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) TGTGGCTTCATGGTGGACTCA 0.532000 3 17 0 0 0.009096 0 0 BAI3 577 broad.mit.edu 37 6 70034795 70034795 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr6:70034795A>T ENST00000370598.1 + 21 3667 c.2846A>T c.(2845-2847)cAc>cTc p.H949L BAI3_ENST00000238918.8_Missense_Mutation_p.H155L NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 949 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.H949R(1)|p.H949L(1) NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) GCATTTTTGCACTTTTTCTTC 0.423000 19 85 0 0 0.010504 0 0 PPAN-P2RY11 692312 broad.mit.edu 37 19 10220370 10220370 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr19:10220370G>T ENST00000428358.1 + 6 749 c.577G>T c.(577-579)Gac>Tac p.D193Y PPAN_ENST00000253107.7_Missense_Mutation_p.D193Y|PPAN_ENST00000556468.1_Missense_Mutation_p.D193Y|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.D193Y|PPAN_ENST00000393793.1_Missense_Mutation_p.D140Y NM_001040664.2|NM_001198690.1 NP_001035754.1|NP_001185619.1 Q9NQ55 SSF1_HUMAN 193 Brix. RNA splicing nucleolus protein binding p.D193Y(2) breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 31 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) CCAGGAGCTGGACTTCCGCCA 0.607000 73 151 1.43872e-54 2.76714e-54 0.014410 1 0 ATL1 51062 broad.mit.edu 37 14 51058280 51058280 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr14:51058280G>A ENST00000441560.2 + 5 926 c.445G>A c.(445-447)Gga>Aga p.G149R ATL1_ENST00000357032.3_Missense_Mutation_p.G149R|ATL1_ENST00000358385.6_Missense_Mutation_p.G149R|ATL1_ENST00000354525.4_Missense_Mutation_p.G149R NM_001127713.1 NP_001121185.1 Q8WXF7 ATLA1_HUMAN atlastin GTPase 1 149 axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome GTP binding|GTPase activity|identical protein binding p.G149R(1) central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3) 18 GGATACTCAGGGAACCTTTGA 0.358000 5 132 0 0 0.021553 0 0 CDRT1 374286 broad.mit.edu 37 17 15499942 15499942 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr17:15499942C>T ENST00000455584.2 - 15 2563 c.2520G>A c.(2518-2520)acG>acA p.T840T CDRT1_ENST00000354433.3_Silent_p.T30T|CDRT1_ENST00000395906.3_Silent_p.T530T|CDRT1_ENST00000583965.1_Silent_p.T30T p.T30T(2)|p.T530T(2) TGTGTCTAAACGTCTTCAGGC 0.507000 5 47 0 0 0.021553 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553151 140553151 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr5:140553151G>A ENST00000231137.3 + 1 909 c.735G>A c.(733-735)tcG>tcA p.S245S NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 245 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.S245S(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTGTGCGGTCGCTCTACAAGG 0.542000 20 112 0 0 0.007413 0 0 SYNE2 23224 broad.mit.edu 37 14 64557634 64557634 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr14:64557634G>T ENST00000357395.3 + 61 12143 c.999G>T c.(997-999)gtG>gtT p.V333V SYNE2_ENST00000555002.1_Silent_p.V582V|SYNE2_ENST00000554584.1_Silent_p.V3981V|SYNE2_ENST00000344113.4_Silent_p.V3948V|SYNE2_ENST00000394768.2_Silent_p.V333V|SYNE2_ENST00000358025.3_Silent_p.V3948V|ESR2_ENST00000542956.1_Intron Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 3948 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 p.V3948V(1) NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CTGAGATAGTGTCTTACCAAG 0.383000 19 92 7.45023e-12 1.14026e-11 0.010504 1 0 GPR64 10149 broad.mit.edu 37 X 19046303 19046303 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:19046303G>T ENST00000379878.3 - 9 605 c.364C>A c.(364-366)Cag>Aag p.Q122K GPR64_ENST00000340581.3_Missense_Mutation_p.Q108K|GPR64_ENST00000379869.3_Missense_Mutation_p.Q138K|GPR64_ENST00000357991.3_Missense_Mutation_p.Q135K|GPR64_ENST00000379873.2_Missense_Mutation_p.Q138K|GPR64_ENST00000354791.3_Missense_Mutation_p.Q122K|GPR64_ENST00000356606.4_Missense_Mutation_p.Q124K|GPR64_ENST00000379876.1_Missense_Mutation_p.Q114K|GPR64_ENST00000360279.4_Missense_Mutation_p.Q116K|GPR64_ENST00000357544.3_Missense_Mutation_p.Q108K NM_001184833.1 NP_001171762.1 Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 138 neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity p.Q135K(1) breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1) 42 Hepatocellular(33;0.183) AAACTTACCTGGGGAACAGTG 0.254000 15 70 0.000422831 0.000475582 0.004007 1 0 APOB 338 broad.mit.edu 37 2 21255418 21255418 + Missense_Mutation SNP T T G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr2:21255418T>G ENST00000233242.1 - 10 1287 c.1160A>C c.(1159-1161)cAg>cCg p.Q387P APOB_ENST00000399256.4_Missense_Mutation_p.Q387P NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 387 Vitellogenin. 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 p.Q387T(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GCACTGAGGCTGTCCACACTG 0.507000 12 51 0 0 0.013537 0 0 GULP1 51454 broad.mit.edu 37 2 189406035 189406035 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr2:189406035G>T ENST00000409580.1 + 8 1103 c.389G>T c.(388-390)aGc>aTc p.S130I GULP1_ENST00000409609.1_Missense_Mutation_p.S130I|GULP1_ENST00000409805.1_Intron|GULP1_ENST00000409843.1_Missense_Mutation_p.S130I|GULP1_ENST00000409637.3_Missense_Mutation_p.S130I|GULP1_ENST00000410051.1_Missense_Mutation_p.S130I|GULP1_ENST00000409830.1_Missense_Mutation_p.S130I|GULP1_ENST00000479019.1_3'UTR|GULP1_ENST00000359135.3_Missense_Mutation_p.S130I Q9UBP9 GULP1_HUMAN GULP, engulfment adaptor PTB domain containing 1 130 PID. apoptosis|lipid transport|phagocytosis, engulfment cytoplasm|intracellular membrane-bounded organelle signal transducer activity p.S130I(1) endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158) GTATTTGACAGCGAAAAGTGT 0.348000 17 134 2.35188e-11 3.47958e-11 0.006122 1 0 TFDP2 7029 broad.mit.edu 37 3 141671484 141671484 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr3:141671484G>A ENST00000499676.2 - 13 1703 c.1032C>T c.(1030-1032)ttC>ttT p.F344F TFDP2_ENST00000310282.6_Silent_p.F344F|TFDP2_ENST00000495310.1_Silent_p.F307F|TFDP2_ENST00000477292.1_Silent_p.F268F|TFDP2_ENST00000486111.1_Silent_p.F344F|TFDP2_ENST00000467072.1_Silent_p.F344F|TFDP2_ENST00000397991.4_Silent_p.F376F|TFDP2_ENST00000489671.1_Silent_p.F404F|TFDP2_ENST00000479040.1_Silent_p.F343F|TFDP2_ENST00000317104.7_Silent_p.F328F NM_001178139.1 NP_001171610.1 Q14188 TFDP2_HUMAN transcription factor Dp-2 (E2F dimerization partner 2) 404 cell cycle transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding p.G402fs*22(1)|p.F404F(1) kidney(1)|upper_aerodigestive_tract(2) 3 TTGGGGCCAGGAACTGCCCAG 0.502000 12 84 0 0 0.010729 0 0 JPH2 57158 broad.mit.edu 37 20 42815297 42815297 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr20:42815297C>A ENST00000372980.3 - 1 921 c.49G>T c.(49-51)Ggc>Tgc p.G17C JPH2_ENST00000342272.3_Missense_Mutation_p.G17C NM_020433.4 NP_065166.2 Q9BR39 JPH2_HUMAN junctophilin 2 17 Gly-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane p.G17C(2) NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CCCTCCCAGCCCCCGCAGTAC 0.642000 25 90 2.44723e-14 3.9007e-14 0.004656 1 0 MUSK 4593 broad.mit.edu 37 9 113510054 113510054 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr9:113510054A>T ENST00000416899.2 + 7 1013 c.887A>T c.(886-888)aAg>aTg p.K296M MUSK_ENST00000189978.5_Missense_Mutation_p.K296M|MUSK_ENST00000374448.4_Missense_Mutation_p.K296M O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase 296 Ig-like 3. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity p.K296M(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 AGTACTGCCAAGGCTGCAGCC 0.488000 18 46 0 0 0.012319 0 0 USH2A 7399 broad.mit.edu 37 1 216011423 216011423 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:216011423G>T ENST00000366943.2 - 47 9667 c.9281C>A c.(9280-9282)gCc>gAc p.A3094D USH2A_ENST00000307340.3_Missense_Mutation_p.A3094D O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3094 Fibronectin type-III 17. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.A3094D(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTTCACGCAGGCATATATTGT 0.378000 HNSCC(13;0.011) 22 179 1.55795e-14 2.504e-14 0.012319 1 0 TMTC1 83857 broad.mit.edu 37 12 29669316 29669316 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr12:29669316G>A ENST00000256062.5 - 15 2422 c.1949C>T c.(1948-1950)tCa>tTa p.S650L TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Missense_Mutation_p.S782L|TMTC1_ENST00000551659.1_Missense_Mutation_p.S820L|TMTC1_ENST00000539277.1_Missense_Mutation_p.S758L NM_175861.3 NP_787057.2 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 758 integral to membrane binding breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) ATAGATGGCTGACAAGAGGCG 0.453000 5 142 0 0 0.014758 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43624985 43624985 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr9:43624985C>A ENST00000332857.6 - 4 3730 c.3702G>T c.(3700-3702)aaG>aaT p.K1234N NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 p.K1234N(1) GGGCTTGAAACTTCTGTTTGT 0.502000 38 304 9.73076e-26 1.75458e-25 0.006999 1 0 ARID5A 10865 broad.mit.edu 37 2 97217674 97217674 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr2:97217674A>T ENST00000454558.2 + 7 2382 c.1205A>T c.(1204-1206)gAt>gTt p.D402V ARID5A_ENST00000357485.3_Missense_Mutation_p.D470V Q03989 ARI5A_HUMAN AT rich interactive domain 5A (MRF1-like) 470 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding p.D470V(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2) 14 AAGGAGGCGGATGCCAAGAAG 0.672000 9 30 0 0 0.008291 0 0 KCTD3 51133 broad.mit.edu 37 1 215792539 215792539 + Nonsense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:215792539C>T ENST00000259154.4 + 17 2086 c.1792C>T c.(1792-1794)Caa>Taa p.Q598* KCTD3_ENST00000495537.1_3'UTR NM_016121.3 NP_057205.2 Q9Y597 KCTD3_HUMAN potassium channel tetramerization domain containing 3 598 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity p.Q598*(1) breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1) 33 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) ATTACTCGATCAATGTGATTT 0.408000 6 151 0 0 0.001984 0 0 PIWIL3 440822 broad.mit.edu 37 22 25121445 25121445 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr22:25121445C>G ENST00000332271.5 - 17 2490 c.2074G>C c.(2074-2076)Gag>Cag p.E692Q PIWIL3_ENST00000533313.1_Missense_Mutation_p.E574Q|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.E574Q NM_001008496.3|NM_001255975.1 NP_001008496.2|NP_001242904.1 Q7Z3Z3 PIWL3_HUMAN piwi-like RNA-mediated gene silencing 3 692 Piwi. cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding p.E692Q(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TTCACAAGCTCTTCTCCTGTT 0.438000 17 116 0 0 0.004990 0 0 ILDR2 387597 broad.mit.edu 37 1 166892002 166892002 + Missense_Mutation SNP T T A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:166892002T>A ENST00000271417.3 - 8 1094 c.1039A>T c.(1039-1041)Agc>Tgc p.S347C ILDR2_ENST00000525740.1_Missense_Mutation_p.S220C|ILDR2_ENST00000528703.1_Missense_Mutation_p.S288C|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000469934.2_Missense_Mutation_p.S347C|ILDR2_ENST00000529071.1_Missense_Mutation_p.S328C|ILDR2_ENST00000526687.1_Missense_Mutation_p.S239C NM_199351.2 NP_955383.1 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 2 347 integral to membrane p.S347C(1) NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 CGGAAATTGCTGTCCTCCTCA 0.478000 27 239 0 0 0.008361 0 0 DNAH9 1770 broad.mit.edu 37 17 11554419 11554419 + Nonsense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr17:11554419G>T ENST00000262442.3 + 13 2199 c.2131G>T c.(2131-2133)Gaa>Taa p.E711* DNAH9_ENST00000454412.2_Nonsense_Mutation_p.E711* NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 711 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 p.E711*(1) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 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) GAGCTATCTTGAACCCAGAGA 0.438000 45 163 8.00217e-19 1.37418e-18 0.014410 1 0 GPRASP1 9737 broad.mit.edu 37 X 101910161 101910161 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:101910161G>T ENST00000537097.1 + 6 2133 c.1320G>T c.(1318-1320)tgG>tgT p.W440C GPRASP1_ENST00000415986.1_Missense_Mutation_p.W440C|GPRASP1_ENST00000444152.1_Missense_Mutation_p.W440C|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.W440C NM_001184727.1 NP_001171656.1 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting protein 1 440 cytoplasm protein binding p.W440F(1) NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 GTTGGTTCTGGACTGAAGAAG 0.517000 20 202 1.15919e-05 1.39054e-05 0.008871 1 0 SLC27A6 28965 broad.mit.edu 37 5 128321030 128321030 + Splice_Site SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr5:128321030G>A ENST00000262462.4 + 2 1695 c.e2+1 SLC27A6_ENST00000506176.1_Splice_Site|SLC27A6_ENST00000395266.1_Splice_Site Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 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 p.?(1) NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 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) GGAACAACAGGTATGATCCAA 0.438000 10 39 0 0 0.008291 0 0 EPHA3 2042 broad.mit.edu 37 3 89445045 89445045 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr3:89445045G>C ENST00000336596.2 + 6 1590 c.1365G>C c.(1363-1365)ttG>ttC p.L455F EPHA3_ENST00000452448.2_Missense_Mutation_p.L455F|EPHA3_ENST00000494014.1_Missense_Mutation_p.L455F NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 455 Fibronectin type-III 2. extracellular region|integral to plasma membrane ATP binding p.L455F(2) NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 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) GCATCTCTTTGTCCTGGCAAG 0.453000 TSP Lung(6;0.00050) 48 242 0 0 0.014410 0 0 OR2T34 127068 broad.mit.edu 37 1 248737364 248737364 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:248737364C>A ENST00000328782.2 - 1 716 c.695G>T c.(694-696)aGg>aTg p.R232M NM_001001821.1 NP_001001821.1 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, member 34 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R232M(1) breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3) 43 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) AGAATTCATCCTGTGGATGAG 0.547000 28 145 2.4375e-19 4.19832e-19 0.007291 1 0 IGFN1 91156 broad.mit.edu 37 1 201195156 201195156 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:201195156G>T ENST00000335211.4 + 22 10821 c.10691G>T c.(10690-10692)gGc>gTc p.G3564V IGFN1_ENST00000295591.8_3'UTR NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 p.G3564V(1)|p.G724V(1) autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 ATCCTCCCCGGCCACGAATAC 0.667000 11 48 6.72482e-11 9.77386e-11 0.003163 1 0 HOXA3 3200 broad.mit.edu 37 7 27149789 27149789 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr7:27149789G>T ENST00000396352.4 - 2 670 c.471C>A c.(469-471)ccC>ccA p.P157P HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Silent_p.P157P NM_030661.4 NP_109377.1 O43365 HXA3_HUMAN homeobox A3 157 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P157P(1) breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1) 29 CTTTCATCCAGGGGAAGATTT 0.572000 23 188 5.60225e-13 8.83196e-13 0.009535 1 0 ERMN 57471 broad.mit.edu 37 2 158181913 158181913 + Splice_Site SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr2:158181913C>A ENST00000410096.1 - 1 533 c.e1+1 ERMN_ENST00000409925.1_Splice_Site|ERMN_ENST00000409216.1_Splice_Site|ERMN_ENST00000397283.2_Splice_Site|ERMN_ENST00000420719.2_Splice_Site NM_020711.1 NP_065762.1 Q8TAM6 ERMIN_HUMAN ermin, ERM-like protein cytoplasm|cytoskeleton p.?(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 AAACACTTTACCTTTTAGCAT 0.378000 13 96 6.81908e-15 1.11147e-14 0.020292 1 0 NEB 4703 broad.mit.edu 37 2 152387542 152387542 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr2:152387542A>T ENST00000397345.3 - 145 21798 c.21596T>A c.(21595-21597)cTg>cAg p.L7199Q NEB_ENST00000172853.10_Missense_Mutation_p.L5498Q|NEB_ENST00000604864.1_Missense_Mutation_p.L7199Q|NEB_ENST00000427231.2_Missense_Mutation_p.L7199Q|NEB_ENST00000603639.1_Missense_Mutation_p.L7199Q|NEB_ENST00000409198.1_Missense_Mutation_p.L5498Q NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 5498 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle p.L7199Q(1)|p.L5498Q(1) NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GCGGACATGCAGCAACATGGG 0.423000 8 50 0 0 0.004482 0 0 COL4A5 1287 broad.mit.edu 37 X 107842032 107842032 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:107842032C>T ENST00000328300.6 + 25 2124 c.1880C>T c.(1879-1881)cCt>cTt p.P627L COL4A5_ENST00000361603.2_Missense_Mutation_p.P627L NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 627 Triple-helical region. FGPP -> LALQ (in Ref. 5; AAA99480). axon guidance collagen type IV extracellular matrix structural constituent|protein binding p.P627L(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 GGTTTCGGCCCTCCAGGCCCA 0.517000 Alport syndrome with Diffuse Leiomyomatosis 12 120 0 0 0.020292 0 0 NF1 4763 broad.mit.edu 37 17 29653005 29653005 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr17:29653005G>T ENST00000358273.4 + 37 5386 c.5003G>T c.(5002-5004)gGc>gTc p.G1668V NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Missense_Mutation_p.G1647V NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1668 CRAL-TRIO. actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3)|p.G1668V(2) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) GTTTTTCCTGGCTTTGCTTAC 0.453000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 48 146 6.27289e-28 1.14178e-27 0.014410 1 0 FAM196A 642938 broad.mit.edu 37 10 128973656 128973656 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr10:128973656G>C ENST00000522781.1 - 4 1559 c.1004C>G c.(1003-1005)cCt>cGt p.P335R FAM196A_ENST00000424811.2_Missense_Mutation_p.P335R|DOCK1_ENST00000280333.6_Intron NM_001039762.2 NP_001034851.1 Q6ZSG2 F196A_HUMAN family with sequence similarity 196, member A 335 p.P335R(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 TGTGGGACTAGGCTGGTTCCC 0.597000 44 200 0 0 0.014410 0 0 IL21R 50615 broad.mit.edu 37 16 27445722 27445722 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr16:27445722G>T ENST00000337929.3 + 3 577 c.104G>T c.(103-105)tGc>tTc p.C35F IL21R_ENST00000395755.1_Missense_Mutation_p.C35F|IL21R_ENST00000395754.4_Missense_Mutation_p.C35F|IL21R_ENST00000564089.1_Missense_Mutation_p.C35F NM_181078.2 NP_851564.1 Q9HBE5 IL21R_HUMAN interleukin 21 receptor 35 natural killer cell activation integral to membrane interleukin-21 receptor activity p.C35F(1) breast(2)|large_intestine(3)|lung(1)|ovary(2) 8 ACGGTCATCTGCATCCTGGAA 0.637000 T BCL6 NHL 11 53 0.010729 0.0112557 0.010729 1 0 LIG1 3978 broad.mit.edu 37 19 48634422 48634422 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr19:48634422C>T ENST00000263274.7 - 19 2151 c.1732G>A c.(1732-1734)Gcc>Acc p.A578T LIG1_ENST00000536218.1_Missense_Mutation_p.A510T|LIG1_ENST00000427526.2_Missense_Mutation_p.A547T NM_000234.1 NP_000225.1 P18858 DNLI1_HUMAN ligase I, DNA, ATP-dependent 578 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding p.A578T(1) breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) CCTTCCAGGGCGTGGATCTGT 0.577000 Nucleotide excision repair (NER) 26 57 0 0 0.006320 0 0 NETO2 81831 broad.mit.edu 37 16 47162416 47162416 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr16:47162416G>A ENST00000562435.1 - 4 685 c.301C>T c.(301-303)Cgg>Tgg p.R101W NETO2_ENST00000303155.5_Missense_Mutation_p.R101W NM_018092.4 NP_060562.3 Q8NC67 NETO2_HUMAN neuropilin (NRP) and tolloid (TLL)-like 2 101 CUB 1. integral to membrane receptor activity p.R101W(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 29 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) TGATCAAACCGACACTCAAAT 0.398000 HNSCC(25;0.065) 18 214 0 0 0.004990 0 0 JAK3 3718 broad.mit.edu 37 19 17943472 17943472 + Missense_Mutation SNP C C T rs1052526 TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr19:17943472C>T ENST00000458235.1 - 19 2635 c.2536G>A c.(2536-2538)Gac>Aac p.D846N JAK3_ENST00000527670.1_Missense_Mutation_p.D846N|JAK3_ENST00000534444.1_Missense_Mutation_p.D846N NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 846 Protein kinase 2. GD -> AH (in Ref. 1; AAA19626). B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.D846N(1) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 CCTGTATTGTCGCCTAGCGGG 0.617000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 10 187 0 0 0.010729 0 0 C10orf12 26148 broad.mit.edu 37 10 98741739 98741739 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr10:98741739G>C ENST00000286067.2 + 1 699 c.592G>C c.(592-594)Ggt>Cgt p.G198R NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 198 p.G198R(1) NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) CTTTTTCAATGGTGACTGTTG 0.418000 24 102 0 0 0.016522 0 0 MS4A5 64232 broad.mit.edu 37 11 60197159 60197159 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr11:60197159C>A ENST00000300190.2 + 1 98 c.12C>A c.(10-12)agC>agA p.S4R MS4A5_ENST00000534071.1_3'UTR NM_023945.2 NP_076434.2 Q9H3V2 MS4A5_HUMAN membrane-spanning 4-domains, subfamily A, member 5 4 integral to membrane receptor activity p.S4R(1) large_intestine(7)|lung(7)|ovary(1)|skin(1) 16 TGGATTCAAGCACCGCACACA 0.453000 30 178 4.02929e-09 5.56196e-09 0.010818 1 0 RYR1 6261 broad.mit.edu 37 19 39075606 39075606 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr19:39075606G>T ENST00000355481.4 + 101 14786 c.14655G>T c.(14653-14655)gtG>gtT p.V4885V RYR1_ENST00000359596.3_Silent_p.V4890V|RYR1_ENST00000360985.3_Silent_p.V4885V NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 4890 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 p.V4890V(1) NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) ACATGTACGTGGGTGTCCGGG 0.577000 35 77 1.66425e-11 2.48775e-11 0.021022 1 0 IL23R 149233 broad.mit.edu 37 1 67685289 67685289 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:67685289G>T ENST00000347310.5 + 7 1002 c.831G>T c.(829-831)gtG>gtT p.V277V C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000371002.1_Silent_p.V277V|IL23R_ENST00000395227.1_Silent_p.V22V NM_144701.2 NP_653302.2 Q5VWK5 IL23R_HUMAN interleukin 23 receptor 277 Fibronectin type-III 2. inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide interleukin-23 receptor complex receptor activity p.V277V(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 21 TTACATATGTGCAACAGTCAG 0.343000 26 72 5.45024e-15 8.90875e-15 0.018920 1 0 NPAP1 23742 broad.mit.edu 37 15 24921196 24921196 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr15:24921196C>A ENST00000329468.2 + 1 656 c.182C>A c.(181-183)gCa>gAa p.A61E NM_018958.2 NP_061831.2 nuclear pore associated protein 1 p.A61E(1) AGGCCTTCAGCAGCCAGCATC 0.736000 5 26 0.00448238 0.00480731 0.004482 1 0 TTC17 55761 broad.mit.edu 37 11 43413371 43413371 + Splice_Site SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr11:43413371G>T ENST00000039989.4 + 5 546 c.531_splice c.e5-1 p.G178_splice TTC17_ENST00000299240.6_Splice_Site_p.G178_splice|RP11-484D2.4_ENST00000394183.2_RNA NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 178 binding p.G178C(1) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 TTCTCTTCAGGGTGTACAGGA 0.318000 5 73 0.00116845 0.00127447 0.021553 1 0 GLI3 2737 broad.mit.edu 37 7 42088288 42088288 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr7:42088288C>A ENST00000395925.3 - 5 565 c.481G>T c.(481-483)Gcc>Tcc p.A161S GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 161 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A161S(1) NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 CTAGATAAGGCGGAAGTCCTG 0.498000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 10 42 2.17888e-05 2.58154e-05 0.006214 1 0 TRPM2 7226 broad.mit.edu 37 21 45825813 45825813 + Missense_Mutation SNP G G T rs147919263 TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr21:45825813G>T ENST00000397928.1 + 18 3128 c.2683G>T c.(2683-2685)Ggg>Tgg p.G895W TRPM2_ENST00000397932.2_Missense_Mutation_p.G895W|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.G895W|TRPM2_ENST00000300481.9_Missense_Mutation_p.G875W NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 895 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity p.G895W(1) breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 GCTGTACCCCGGGCGCGTCAT 0.617000 42 180 6.68952e-21 1.16965e-20 0.013114 1 0 SLC32A1 140679 broad.mit.edu 37 20 37353584 37353584 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr20:37353584G>A ENST00000217420.1 + 1 480 c.217G>A c.(217-219)Gag>Aag p.E73K NM_080552.2 NP_542119.1 Q9H598 VIAAT_HUMAN solute carrier family 32 (GABA vesicular transporter), member 1 73 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity p.E73K(1) breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) CTGCGGGGACGAGGGCGCTGA 0.677000 12 88 0 0 0.003163 0 0 MS4A1 931 broad.mit.edu 37 11 60229879 60229879 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr11:60229879C>A ENST00000534668.1 + 2 321 c.32C>A c.(31-33)aCt>aAt p.T11N MS4A1_ENST00000532073.1_Missense_Mutation_p.T11N|MS4A1_ENST00000345732.4_Missense_Mutation_p.T11N|MS4A1_ENST00000528313.1_Missense_Mutation_p.T11N|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000389939.2_Missense_Mutation_p.T11N NM_152866.2 NP_690605.1 P11836 CD20_HUMAN membrane-spanning 4-domains, subfamily A, member 1 11 B cell activation|immune response integral to plasma membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081) GTAAATGGGACTTTCCCGGCA 0.433000 11 100 3.07112e-06 3.77029e-06 0.010729 1 0 NAT10 55226 broad.mit.edu 37 11 34160792 34160792 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr11:34160792G>T ENST00000257829.3 + 22 2472 c.2266G>T c.(2266-2268)Gat>Tat p.D756Y NAT10_ENST00000531159.2_Missense_Mutation_p.D684Y|NAT10_ENST00000527971.1_Intron NM_024662.2 NP_078938.2 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 (GCN5-related) 756 Required for localization to the nucleolus and midbody. nucleolus ATP binding|N-acetyltransferase activity|protein binding p.D756Y(1) endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) CACTGATGAGGATGAGGCTGA 0.557000 21 121 4.26978e-12 6.58733e-12 0.018920 1 0 ARHGEF12 23365 broad.mit.edu 37 11 120308016 120308016 + Splice_Site SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr11:120308016G>C ENST00000397843.2 + 12 1090 c.e12-1 ARHGEF12_ENST00000356641.3_Splice_Site|ARHGEF12_ENST00000532993.1_Splice_Site NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) TTTTTCATTAGAGTCCCAAGA 0.348000 T MLL AML 3 65 0 0 0.009096 0 0 SH3PXD2B 285590 broad.mit.edu 37 5 171766609 171766609 + Silent SNP T T A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr5:171766609T>A ENST00000311601.5 - 13 1670 c.1500A>T c.(1498-1500)tcA>tcT p.S500S SH3PXD2B_ENST00000519643.1_Intron NM_001017995.2 NP_001017995.1 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 500 adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding p.S500S(1) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CAGACATGTCTGAAGATGCCT 0.592000 33 156 0 0 0.019004 0 0 ADH1B 125 broad.mit.edu 37 4 100239987 100239987 + Translation_Start_Site SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr4:100239987C>A ENST00000394887.3 - 0 142 ADH1B_ENST00000504498.1_5'UTR|ADH1B_ENST00000305046.8_Missense_Mutation_p.E25D NM_000668.4 NP_000659.2 P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding p.E25D(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) CCTCCACATCCTCAATGGAAA 0.368000 21 108 1.50039e-11 2.24864e-11 0.012319 1 0 CCDC146 57639 broad.mit.edu 37 7 76891577 76891577 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr7:76891577G>A ENST00000285871.4 + 9 1253 c.1126G>A c.(1126-1128)Gat>Aat p.D376N CCDC146_ENST00000431197.1_Missense_Mutation_p.D122N|CCDC146_ENST00000415740.2_3'UTR NM_020879.2 NP_065930.2 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 376 p.D376N(1) breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) AGTGTCCTGGGATGCACTTAG 0.408000 27 141 0 0 0.006320 0 0 PCDHB12 56124 broad.mit.edu 37 5 140588987 140588987 + Missense_Mutation SNP T T C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr5:140588987T>C ENST00000239450.2 + 1 697 c.508T>C c.(508-510)Tac>Cac p.Y170H PCDHB12_ENST00000541609.1_Intron NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 170 Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.Y170H(1) NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGTAAAAAGCTACACAATAAA 0.393000 22 120 0 0 0.010504 0 0 PIK3CG 5294 broad.mit.edu 37 7 106509707 106509707 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr7:106509707C>T ENST00000359195.3 + 2 2011 c.1701C>T c.(1699-1701)ctC>ctT p.L567L PIK3CG_ENST00000440650.2_Silent_p.L567L|PIK3CG_ENST00000496166.1_Silent_p.L567L NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 567 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 p.L567L(1) breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 TTAACCCTCTCACAGCAGAGG 0.502000 24 90 0 0 0.016522 0 0 ZBED4 9889 broad.mit.edu 37 22 50277987 50277987 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr22:50277987C>G ENST00000216268.4 + 2 1154 c.677C>G c.(676-678)tCt>tGt p.S226C NM_014838.2 NP_055653.2 O75132 ZBED4_HUMAN zinc finger, BED-type containing 4 226 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity p.S226C(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) ACAGAGGAGTCTGTGTCTGTA 0.557000 15 103 0 0 0.004007 0 0 TGM4 7047 broad.mit.edu 37 3 44943081 44943081 + Silent SNP A A C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr3:44943081A>C ENST00000296125.4 + 7 791 c.723A>C c.(721-723)acA>acC p.T241T NM_003241.3 NP_003232.2 P49221 TGM4_HUMAN transglutaminase 4 241 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity p.T241T(1) NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) AAGGTGGCACAGCCCCATACA 0.592000 4 30 0 0 0.014758 0 0 FRMPD3 84443 broad.mit.edu 37 X 106765704 106765704 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:106765704G>T ENST00000276185.4 + 1 25 c.25G>T c.(25-27)Gtc>Ttc p.V9F FRMPD3-AS1_ENST00000415252.1_RNA Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 9 cytoskeleton p.V9F(1) breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 TAGCCAGAGGGTCCAGGACCG 0.577000 8 52 7.48243e-07 9.44718e-07 0.006214 1 0 MAP3K15 389840 broad.mit.edu 37 X 19398322 19398322 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:19398322C>A ENST00000338883.4 - 19 2504 c.2505G>T c.(2503-2505)tgG>tgT p.W835C MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.W270C|MAP3K15_ENST00000469203.2_Missense_Mutation_p.W667C NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 835 Protein kinase. ATP binding|MAP kinase kinase kinase activity|metal ion binding p.W310C(1)|p.W882C(1) NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) AGCCCAGGGACCAGATATCGG 0.542000 6 21 2.17888e-05 2.58154e-05 0.006214 1 0 SLITRK5 26050 broad.mit.edu 37 13 88327846 88327846 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr13:88327846G>T ENST00000325089.6 + 2 422 c.203G>T c.(202-204)cGg>cTg p.R68L SLITRK5_ENST00000400028.3_Intron NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 68 integral to membrane p.R68L(2) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) TGTGAAAACCGGGGGATCATC 0.458000 69 261 1.72039e-30 3.18162e-30 0.014410 1 0 ADAMTS16 170690 broad.mit.edu 37 5 5146362 5146362 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr5:5146362C>A ENST00000274181.7 + 3 433 c.295C>A c.(295-297)Ctt>Att p.L99I CTD-2297D10.1_ENST00000514848.1_RNA|ADAMTS16_ENST00000511368.1_Missense_Mutation_p.L99I NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 99 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.L99I(2) breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 GTCTCTTCACCTTCGGCTGAA 0.562000 46 98 1.62263e-30 3.01047e-30 0.014410 1 0 FAM32A 26017 broad.mit.edu 37 19 16301759 16301759 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr19:16301759C>T ENST00000263384.7 + 4 357 c.332C>T c.(331-333)aCg>aTg p.T111M FAM32A_ENST00000589852.1_Missense_Mutation_p.T91M|FAM32A_ENST00000588367.1_Missense_Mutation_p.T93M NM_014077.2 NP_054796.1 Q9Y421 FA32A_HUMAN family with sequence similarity 32, member A 111 nucleolus p.T111M(1) lung(1) 1 GTCAGCTGGACGAAGTAGCCG 0.557000 7 64 0 0 0.003080 0 0 MALAT1 378938 broad.mit.edu 37 11 65270568 65270568 + RNA SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr11:65270568C>G ENST00000534336.1 + 0 5336 NR_002819.2 TGCTGTGTGCCAATGTTTCGT 0.408000 3 11 0 0 0.004672 0 0 MUC17 140453 broad.mit.edu 37 7 100683920 100683920 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr7:100683920A>T ENST00000306151.4 + 3 9287 c.9223A>T c.(9223-9225)Agt>Tgt p.S3075C NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3075 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.S3075C(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TGACTCCAACAGTCCTGTGGT 0.473000 88 210 0 0 0.014410 0 0 TYR 7299 broad.mit.edu 37 11 88911297 88911297 + Missense_Mutation SNP T T A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr11:88911297T>A ENST00000263321.5 + 1 678 c.176T>A c.(175-177)cTt>cAt p.L59H TYR_ENST00000526139.1_3'UTR NM_000372.4 NP_000363.1 P14679 TYRO_HUMAN tyrosinase 59 eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity p.L59H(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) CAGAATATCCTTCTGTCCAAT 0.547000 11 48 0 0 0.010729 0 0 SLITRK2 84631 broad.mit.edu 37 X 144904139 144904139 + Nonsense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:144904139C>T ENST00000370490.1 + 1 4451 c.196C>T c.(196-198)Cag>Tag p.Q66* SLITRK2_ENST00000434188.2_Nonsense_Mutation_p.Q66*|SLITRK2_ENST00000428560.2_Nonsense_Mutation_p.Q66*|SLITRK2_ENST00000413937.2_Nonsense_Mutation_p.Q66*|SLITRK2_ENST00000447897.2_Nonsense_Mutation_p.Q66* Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 66 integral to membrane p.Q66*(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) TCGAATCTATCAGCTTTTTCT 0.433000 26 157 0 0 0.004656 0 0 NUF2 83540 broad.mit.edu 37 1 163309231 163309231 + Silent SNP A A G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:163309231A>G ENST00000271452.3 + 8 849 c.570A>G c.(568-570)ctA>ctG p.L190L NUF2_ENST00000524800.1_Silent_p.L190L|NUF2_ENST00000367900.3_Silent_p.L190L NM_145697.2 NP_663735.2 Q9BZD4 NUF2_HUMAN NUF2, NDC80 kinetochore complex component 190 Interaction with the N-terminus of NDC80. cell division|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding p.L190L(2) breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 all_hematologic(923;0.101) TTCAGGAGCTACAACAATCAC 0.353000 5 61 0 0 0.014758 0 0 SEPT6 23157 broad.mit.edu 37 X 118783987 118783987 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:118783987G>A ENST00000394610.1 - 5 867 c.603C>T c.(601-603)atC>atT p.I201I SEPT6_ENST00000394617.2_Silent_p.I231I|SEPT6_ENST00000354228.4_Silent_p.I201I|SEPT6_ENST00000360156.7_Silent_p.I201I|SEPT6_ENST00000354416.3_Silent_p.I201I|SEPT6_ENST00000489216.1_Silent_p.I201I|SEPT6_ENST00000343984.5_Silent_p.I201I|SEPT6_ENST00000394616.4_Silent_p.I143I NM_145799.3 NP_665798.1 Q14141 SEPT6_HUMAN septin 6 201 cell cycle|cytokinesis|interspecies interaction between organisms cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle GTP binding|protein binding p.I201I(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3) 17 GCTCGCTGGTGATTTTGATTT 0.488000 T MLL AML 50 280 0 0 0.014410 0 0 DYTN 391475 broad.mit.edu 37 2 207527706 207527706 + Silent SNP T T C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr2:207527706T>C ENST00000452335.2 - 11 1670 c.1554A>G c.(1552-1554)agA>agG p.R518R NM_001093730.1 NP_001087199.1 A2CJ06 DYTN_HUMAN dystrotelin 518 plasma membrane zinc ion binding p.R518R(2) breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) GCTCATCCTTTCTCTCCTTGA 0.463000 10 162 0 0 0.010729 0 0 FSTL1 11167 broad.mit.edu 37 3 120122105 120122105 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr3:120122105G>T ENST00000295633.3 - 8 1034 c.678C>A c.(676-678)ttC>ttA p.F226L FSTL1_ENST00000424703.2_Missense_Mutation_p.F191L NM_007085.4 NP_009016.1 Q12841 FSTL1_HUMAN follistatin-like 1 226 EF-hand 2. BMP signaling pathway extracellular space calcium ion binding|heparin binding p.F226L(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1) 20 GBM - Glioblastoma multiforme(114;0.189) CAGGAGGGTTGAAAGATGGGT 0.448000 10 100 0.00829132 0.00876207 0.008291 1 0 STARD8 9754 broad.mit.edu 37 X 67937356 67937356 + Silent SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:67937356C>A ENST00000252336.6 + 5 732 c.360C>A c.(358-360)gcC>gcA p.A120A STARD8_ENST00000374597.3_Silent_p.A120A|STARD8_ENST00000374599.3_Silent_p.A200A NM_014725.4 NP_055540.2 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain containing 8 120 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity p.A120A(2)|p.A200A(1) NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 50 AGGACAAAGCCAAGAAGCGCC 0.632000 12 107 0.00136819 0.00148952 0.013537 1 0 DPYS 1807 broad.mit.edu 37 8 105436574 105436574 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr8:105436574C>A ENST00000351513.2 - 7 1268 c.1136G>T c.(1135-1137)aGc>aTc p.S379I NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 379 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding p.S379I(1) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) TGCATTTGTGCTGGTAACTGC 0.358000 7 119 0.00198382 0.00215567 0.001984 1 0 JAKMIP2 9832 broad.mit.edu 37 5 147040887 147040887 + Missense_Mutation SNP T T C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr5:147040887T>C ENST00000265272.5 - 3 718 c.251A>G c.(250-252)gAg>gGg p.E84G JAKMIP2_ENST00000333010.6_Missense_Mutation_p.E42G|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.E84G NM_014790.3 NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 84 Golgi apparatus p.E84G(1) NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCCTGCAGCTCCTTCATCTT 0.532000 70 348 0 0 0.014410 0 0 BMP5 653 broad.mit.edu 37 6 55638990 55638990 + Missense_Mutation SNP T T C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr6:55638990T>C ENST00000370830.3 - 4 1582 c.884A>G c.(883-885)cAg>cGg p.Q295R BMP5_ENST00000446683.2_Missense_Mutation_p.Q295R NM_021073.2 NP_066551.1 P22003 BMP5_HUMAN bone morphogenetic protein 5 295 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity p.Q295R(1) cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) TTGTTTTGACTGAGGTCCCTG 0.418000 18 101 0 0 0.007413 0 0 SLC19A3 80704 broad.mit.edu 37 2 228552161 228552161 + Silent SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr2:228552161C>A ENST00000258403.3 - 6 1514 c.1443G>T c.(1441-1443)gtG>gtT p.V481V SLC19A3_ENST00000541617.1_Silent_p.V477V|SLC19A3_ENST00000409287.1_Intron NM_025243.3 NP_079519.1 Q9BZV2 S19A3_HUMAN solute carrier family 19 (thiamine transporter), member 3 481 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity p.V481V(1) breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3) 30 Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236) Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125) L-Cysteine(DB00151) CTGGGTGAGACACATCTGGAT 0.403000 26 129 3.65163e-15 6.00282e-15 0.006320 1 0 SEMG2 6407 broad.mit.edu 37 20 43851907 43851907 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr20:43851907G>T ENST00000372769.3 + 2 1724 c.1634G>T c.(1633-1635)aGa>aTa p.R545I NM_003008.2 NP_002999.1 Q02383 SEMG2_HUMAN semenogelin II 545 Repeat-rich region. sexual reproduction extracellular space|stored secretory granule structural molecule activity p.R545I(1) autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Myeloproliferative disorder(115;0.0122) CAAAAAGGCAGATACAAACAG 0.373000 17 98 1.37285e-15 2.27625e-15 0.004007 1 0 PDCD2 5134 broad.mit.edu 37 6 170887973 170887973 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr6:170887973C>G ENST00000541970.1 - 5 926 c.848G>C c.(847-849)tGt>tCt p.C283S PDCD2_ENST00000542896.1_Missense_Mutation_p.C283S|PDCD2_ENST00000392090.2_Missense_Mutation_p.C250S NM_001199462.1|NM_002598.3 NP_001186391.1|NP_002589.2 Q16342 PDCD2_HUMAN programmed cell death 2 283 apoptosis cytoplasm|nucleus DNA binding|protein binding|zinc ion binding p.C283S(1) breast(1)|endometrium(2)|large_intestine(1)|lung(5) 9 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142) CTTGGCACCACAGGGGCAATC 0.363000 6 108 0 0 0.003080 0 0 ZNF780A 284323 broad.mit.edu 37 19 40580836 40580836 + Nonsense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr19:40580836C>A ENST00000450241.2 - 6 1722 c.1411G>T c.(1411-1413)Gag>Tag p.E471* ZNF780A_ENST00000455521.1_Nonsense_Mutation_p.E506*|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Nonsense_Mutation_p.E505*|ZNF780A_ENST00000595687.2_Nonsense_Mutation_p.E505*|ZNF780A_ENST00000594395.1_Nonsense_Mutation_p.E506*|AC005614.5_ENST00000595508.1_RNA O75290 Z780A_HUMAN zinc finger protein 780A 505 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E471*(1)|p.E506*(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TTCCCACACTCCTTACATTCA 0.423000 27 93 0.000117367 0.000134367 0.005443 1 0 ICA1L 130026 broad.mit.edu 37 2 203682164 203682164 + Missense_Mutation SNP A A C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr2:203682164A>C ENST00000392237.2 - 7 818 c.661T>G c.(661-663)Tct>Gct p.S221A ICA1L_ENST00000358299.2_Missense_Mutation_p.S221A NM_138468.4 NP_612477.3 Q8NDH6 ICA1L_HUMAN islet cell autoantigen 1,69kDa-like 221 AH. p.S221A(1) breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 AGCGAATGAGATAGCATATTG 0.408000 4 103 0 0 0.014758 0 0 KCNMA1 3778 broad.mit.edu 37 10 78704598 78704598 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr10:78704598C>A ENST00000286627.5 - 22 3613 c.2661G>T c.(2659-2661)ttG>ttT p.L887F KCNMA1_ENST00000406533.3_Missense_Mutation_p.L949F|KCNMA1_ENST00000286628.8_Missense_Mutation_p.L945F|KCNMA1_ENST00000372440.1_Missense_Mutation_p.L887F|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.L928F|KCNMA1_ENST00000372443.1_Missense_Mutation_p.L887F|KCNMA1_ENST00000354353.5_Missense_Mutation_p.L948F|RP11-443A13.5_ENST00000598613.1_RNA|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.L945F|RP11-443A13.5_ENST00000600782.1_RNA NM_002247.3 NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 945 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 p.L949F(1)|p.L887F(1) breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 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) TGAGTGACGCCAAGATGCATT 0.448000 15 71 1.49906e-05 1.7908e-05 0.020292 1 0 DLGAP4 22839 broad.mit.edu 37 20 35060939 35060939 + Silent SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr20:35060939C>A ENST00000373913.3 + 3 1299 c.819C>A c.(817-819)ccC>ccA p.P273P DLGAP4_ENST00000339266.5_Silent_p.P273P|DLGAP4_ENST00000373907.2_Silent_p.P273P|DLGAP4_ENST00000401952.2_Silent_p.P273P Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 273 Poly-Pro. cell-cell signaling membrane protein binding p.P273P(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CGCCCGCACCCCCAGCCACCT 0.627000 8 18 0.000673444 0.00074583 0.008291 1 0 ABCB9 23457 broad.mit.edu 37 12 123444365 123444365 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr12:123444365C>T ENST00000542678.1 - 2 3256 c.418G>A c.(418-420)Gtg>Atg p.V140M ABCB9_ENST00000442028.2_Missense_Mutation_p.V140M|ABCB9_ENST00000280560.8_Missense_Mutation_p.V140M|ABCB9_ENST00000344275.7_Missense_Mutation_p.V140M|ABCB9_ENST00000540285.1_Missense_Mutation_p.V140M|ABCB9_ENST00000346530.5_Missense_Mutation_p.V140M|ABCB9_ENST00000442833.2_Missense_Mutation_p.V140M|ABCB9_ENST00000392439.3_Missense_Mutation_p.V140M Q9NP78 ABCB9_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 9 140 positive regulation of T cell mediated cytotoxicity|protein transport lysosomal membrane|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding p.V140M(1) central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1) 18 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111) CCTGGCCGCACGGTGGACAGC 0.716000 4 17 0 0 0.021553 0 0 GPRASP1 9737 broad.mit.edu 37 X 101910160 101910160 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chrX:101910160G>T ENST00000537097.1 + 6 2132 c.1319G>T c.(1318-1320)tGg>tTg p.W440L GPRASP1_ENST00000415986.1_Missense_Mutation_p.W440L|GPRASP1_ENST00000444152.1_Missense_Mutation_p.W440L|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.W440L NM_001184727.1 NP_001171656.1 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting protein 1 440 cytoplasm protein binding p.W440F(1) NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 AGTTGGTTCTGGACTGAAGAA 0.517000 20 203 1.15919e-05 1.39054e-05 0.008871 1 0 NPR3 4883 broad.mit.edu 37 5 32712141 32712141 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr5:32712141G>T ENST00000265074.8 + 1 602 c.259G>T c.(259-261)Ggg>Tgg p.G87W NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415685.2_Intron|NPR3_ENST00000415167.2_Missense_Mutation_p.G87W NM_000908.3|NM_001204375.1 NP_000899.1|NP_001191304.1 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) 87 osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity p.G87W(1) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 Nesiritide(DB04899) GGAGGGCAACGGGACTGGGAG 0.637000 14 61 5.03518e-11 7.39262e-11 0.007413 1 0 LRFN5 145581 broad.mit.edu 37 14 42356876 42356876 + Nonsense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr14:42356876A>T ENST00000554171.1 + 5 3480 c.1048A>T c.(1048-1050)Aag>Tag p.K350* LRFN5_ENST00000554120.1_Nonsense_Mutation_p.K350*|LRFN5_ENST00000298119.4_Nonsense_Mutation_p.K350* Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 350 Ig-like. integral to membrane p.K350*(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) CACAACTGTAAAGGATACAGG 0.393000 HNSCC(30;0.082) 33 149 0 0 0.012213 0 0 CD1E 913 broad.mit.edu 37 1 158325255 158325255 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:158325255G>T ENST00000444681.2 + 2 517 c.224G>T c.(223-225)cGc>cTc p.R75L CD1E_ENST00000368163.3_Missense_Mutation_p.R174L|CD1E_ENST00000368160.3_Missense_Mutation_p.R174L|CD1E_ENST00000368167.3_Missense_Mutation_p.R174L|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.R174L|CD1E_ENST00000434258.1_Missense_Mutation_p.R172L|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000452291.2_Intron NM_001185114.1 NP_001172043.1 P15812 CD1E_HUMAN CD1e molecule 174 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen p.R174L(2) breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) GTGCTCAATCGCTACCTAGAT 0.507000 16 134 0.000422831 0.000475582 0.004007 1 0 ONECUT2 9480 broad.mit.edu 37 18 55103683 55103683 + Silent SNP T T C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr18:55103683T>C ENST00000491143.2 + 1 767 c.735T>C c.(733-735)agT>agC p.S245S NM_004852.2 NP_004843.2 O95948 ONEC2_HUMAN one cut homeobox 2 245 organ morphogenesis nucleus sequence-specific DNA binding p.S245S(1) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1) 15 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) CGCAGCAGAGTCTGCCCAACT 0.677000 9 54 0 0 0.013537 0 0 UTP6 55813 broad.mit.edu 37 17 30207635 30207635 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr17:30207635C>A ENST00000261708.4 - 11 1061 c.924G>T c.(922-924)agG>agT p.R308S CTC-542B22.2_ENST00000583236.1_lincRNA NM_018428.2 NP_060898.2 Q9NYH9 UTP6_HUMAN UTP6, small subunit (SSU) processome component, homolog (yeast) 308 rRNA processing nucleolus binding p.R308S(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1) 21 all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231) CAGCACAGCACCTCTCCTCCT 0.478000 53 231 1.33661e-31 2.5003e-31 0.014410 1 0 SPTA1 6708 broad.mit.edu 37 1 158609396 158609396 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:158609396C>A ENST00000368148.3 - 35 5136 c.4956G>T c.(4954-4956)ttG>ttT p.L1652F SPTA1_ENST00000368147.3_Missense_Mutation_p.L1652F NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1652 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 p.L1652F(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCTCTCTCTCCAATAGCTGAT 0.483000 18 139 1.96895e-08 2.64007e-08 0.016522 1 0 MICAL3 57553 broad.mit.edu 37 22 18301586 18301586 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr22:18301586G>A ENST00000441493.2 - 26 4193 c.3841C>T c.(3841-3843)Cgc>Tgc p.R1281C NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1281 Pro-rich. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding p.R1281C(1) large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) GGCTGGAAGCGTATGGGGGAC 0.672000 15 100 0 0 0.028581 0 0 MUC17 140453 broad.mit.edu 37 7 100685523 100685523 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr7:100685523C>A ENST00000306151.4 + 3 10890 c.10826C>A c.(10825-10827)aCt>aAt p.T3609N NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3609 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.T3609N(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CCTGTGACCACTTCTACTCAG 0.463000 23 189 1.04121e-07 1.36198e-07 0.027356 1 0 ASMT 438 broad.mit.edu 37 X 1755382 1755382 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:1755382G>T ENST00000381241.3 + 8 1038 c.839G>T c.(838-840)aGg>aTg p.R280M ASMT_ENST00000381233.3_Missense_Mutation_p.R205M|ASMT_ENST00000381229.4_Missense_Mutation_p.R252M NM_001171038.1|NM_004043.2 NP_001164509.1|NP_004034.2 P46597 HIOM_HUMAN acetylserotonin O-methyltransferase 252 melatonin biosynthetic process|translation cytosol acetylserotonin O-methyltransferase activity|S-methyltransferase activity p.R280M(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 16 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) ATCCTGGCCAGGGTCCTCCAT 0.552000 69 255 5.43229e-20 9.43596e-20 0.014410 1 0 A4GNT 51146 broad.mit.edu 37 3 137843529 137843529 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr3:137843529G>T ENST00000236709.3 - 3 801 c.600C>A c.(598-600)caC>caA p.H200Q NM_016161.2 NP_057245.1 Q9UNA3 A4GCT_HUMAN alpha-1,4-N-acetylglucosaminyltransferase 200 protein O-linked glycosylation Golgi membrane|Golgi stack|integral to membrane|membrane fraction acetylglucosaminyltransferase activity|galactosyltransferase activity p.H200Q(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7) 16 AAAAGGGGTGGTGGGGGAGGA 0.493000 18 162 1.67942e-08 2.26319e-08 0.006122 1 0 PCDHB10 56126 broad.mit.edu 37 5 140573608 140573608 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr5:140573608G>T ENST00000239446.4 + 1 1667 c.1483G>T c.(1483-1485)Gac>Tac p.D495Y NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 495 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.D495Y(1) breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCGCCCCAAGACCCGCACCT 0.672000 13 185 6.31663e-08 8.28283e-08 0.024245 1 0 ACE 1636 broad.mit.edu 37 17 61568578 61568578 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr17:61568578G>T ENST00000577647.1 + 8 1071 c.1026G>T c.(1024-1026)acG>acT p.T342T ACE_ENST00000290863.6_Silent_p.T342T|ACE_ENST00000290866.4_Silent_p.T916T|ACE_ENST00000413513.3_Silent_p.T342T|ACE_ENST00000490216.2_Silent_p.T342T|ACE_ENST00000428043.1_Silent_p.T916T|ACE_ENST00000421982.2_Silent_p.T162T P12821 ACE_HUMAN angiotensin I converting enzyme 916 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding p.T916T(1)|p.T342T(1) autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) AGGGCTGGACGCCCAGGAGGA 0.617000 16 54 0.006122 0.00651148 0.006122 1 0 PMFBP1 83449 broad.mit.edu 37 16 72188209 72188209 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr16:72188209C>A ENST00000537465.1 - 4 473 c.315G>T c.(313-315)caG>caT p.Q105H PMFBP1_ENST00000543746.1_5'UTR|PMFBP1_ENST00000237353.10_Missense_Mutation_p.Q105H|PMFBP1_ENST00000355636.6_5'UTR Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 105 p.Q105H(1) NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) AGTAAGAAGTCTGCAACTCCT 0.458000 40 182 4.32679e-17 7.34868e-17 0.027894 1 0 KCNH7 90134 broad.mit.edu 37 2 163230172 163230172 + Splice_Site SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr2:163230172C>A ENST00000332142.5 - 15 3231 c.3131_splice c.e15-1 p.R1044_splice NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 1044 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity p.R1044S(1) NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) GGGATTCAAGCCTACAGAACA 0.423000 7 44 5.18039e-06 6.2846e-06 0.003080 1 0 LRRC6 23639 broad.mit.edu 37 8 133673705 133673705 + Splice_Site SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr8:133673705C>A ENST00000519595.1 - 2 277 c.e2+1 LRRC6_ENST00000250173.1_Splice_Site|LRRC6_ENST00000520446.1_Splice_Site|LRRC6_ENST00000518642.1_Splice_Site Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 cytoplasm p.?(1) breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2) 34 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CTGAAACTTACCAATTTTCCC 0.318000 9 37 2.52707e-12 3.96476e-12 0.006214 1 0 RGAG4 340526 broad.mit.edu 37 X 71350872 71350872 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:71350872G>A ENST00000545866.1 - 1 886 c.519C>T c.(517-519)ttC>ttT p.F173F NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Silent_p.F173F Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 173 p.F246F(1) cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1) 24 Renal(35;0.156) GGTCGGCTATGAAGGTCTCTA 0.602000 11 40 0 0 0.013537 0 0 MICAL3 57553 broad.mit.edu 37 22 18300618 18300618 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr22:18300618G>A ENST00000441493.2 - 26 5161 c.4809C>T c.(4807-4809)tcC>tcT p.S1603S NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1603 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding p.S1603S(1) large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) GGCTCTTCACGGACTTCTCCC 0.692000 6 25 0 0 0.001984 0 0 PLCD4 84812 broad.mit.edu 37 2 219495489 219495489 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr2:219495489G>A ENST00000450993.2 + 9 1575 c.1236G>A c.(1234-1236)ttG>ttA p.L412L PLCD4_ENST00000417849.1_Silent_p.L412L|PLCD4_ENST00000432688.1_Silent_p.L412L NM_032726.3 NP_116115.1 Q9BRC7 PLCD4_HUMAN phospholipase C, delta 4 412 PI-PLC X-box. intracellular signal transduction|lipid catabolic process endoplasmic reticulum|membrane|nucleus calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.L412L(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3) 23 Renal(207;0.0915) Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) GCACCACCTTGGATGGGGTGC 0.637000 6 52 0 0 0.021553 0 0 HK3 3101 broad.mit.edu 37 5 176308746 176308746 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr5:176308746C>T ENST00000292432.5 - 17 2431 c.2340G>A c.(2338-2340)caG>caA p.Q780Q NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 780 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity p.Q780Q(2) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 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) TCTGAAGGCGCTGGATCTGCT 0.542000 33 171 0 0 0.015359 0 0 CXorf56 63932 broad.mit.edu 37 X 118673720 118673720 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:118673720C>A ENST00000320339.4 - 7 763 c.492G>T c.(490-492)aaG>aaT p.K164N CXorf56_ENST00000486230.1_Missense_Mutation_p.K213N|CXorf56_ENST00000476164.1_Missense_Mutation_p.K213N|CXorf56_ENST00000371594.4_Missense_Mutation_p.K213N|CXorf56_ENST00000536133.1_Missense_Mutation_p.K199N|CXorf56_ENST00000469448.1_5'UTR NM_001170569.1 NP_001164040.1 Q9H5V9 CX056_HUMAN chromosome X open reading frame 56 213 protein binding p.K213N(1) cervix(1)|endometrium(2)|lung(7) 10 TCAAGGTCCCCTTCATTTTCG 0.368000 7 57 0.00307968 0.00330849 0.003080 1 0 COL6A2 1292 broad.mit.edu 37 21 47542060 47542060 + Silent SNP C C T rs112197239 byFrequency TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr21:47542060C>T ENST00000300527.4 + 19 1664 c.1560C>T c.(1558-1560)ccC>ccT p.P520P COL6A2_ENST00000409416.1_Silent_p.P520P|COL6A2_ENST00000357838.4_Silent_p.P520P|COL6A2_ENST00000310645.5_Silent_p.P520P|COL6A2_ENST00000397763.1_Silent_p.P520P NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 520 Triple-helical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) ACCCAGGACCCCGAGGAGCAC 0.642000 3 35 0 0 0.004672 0 0 STK10 6793 broad.mit.edu 37 5 171479999 171479999 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr5:171479999C>A ENST00000176763.5 - 18 3043 c.2700G>T c.(2698-2700)aaG>aaT p.K900N NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 900 ATP binding|protein serine/threonine kinase activity p.K900N(1) breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CATCCAGGGCCTTCAGTTTCT 0.542000 17 66 3.62473e-10 5.14385e-10 0.012319 1 0 VCPKMT 79609 broad.mit.edu 37 14 50583010 50583010 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr14:50583010G>A ENST00000395860.2 - 1 265 c.261C>T c.(259-261)acC>acT p.T87T METTL21D_ENST00000395859.2_Silent_p.T87T NM_024558.2 NP_078834.2 Q9H867 MT21D_HUMAN 87 methyltransferase activity p.T87T(1) kidney(1)|lung(1)|urinary_tract(1) 3 CTTACCCGAGGGTAGCAGCCA 0.687000 3 8 0 0 0.004672 0 0 PARP4 143 broad.mit.edu 37 13 25029154 25029154 + Splice_Site SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr13:25029154C>A ENST00000381989.3 - 22 2864 c.e22+1 NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity p.?(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) AGCGCACTCACCTGTGCCGAA 0.532000 26 206 6.07407e-21 1.07248e-20 0.007291 1 0 PRPS1 5631 broad.mit.edu 37 X 106882646 106882646 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:106882646G>A ENST00000372435.4 + 2 366 c.244G>A c.(244-246)Gcc>Acc p.A82T PRPS1_ENST00000372419.3_Missense_Mutation_p.A82T|PRPS1_ENST00000372418.1_Missense_Mutation_p.A15T|PRPS1_ENST00000543248.1_Missense_Mutation_p.A82T|PRPS1_ENST00000372428.4_Missense_Mutation_p.A15T NM_002764.3 NP_002755.1 P60891 PRPS1_HUMAN phosphoribosyl pyrophosphate synthetase 1 82 5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process cytosol ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity p.A82T(1) breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1) 23 GATTGCTTCAGCCAGCCGGGT 0.443000 39 315 0 0 0.009718 0 0 LRRC6 23639 broad.mit.edu 37 8 133673706 133673706 + Splice_Site SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr8:133673706C>T ENST00000519595.1 - 2 276 c.178_splice c.e2+1 p.E60_splice LRRC6_ENST00000250173.1_Splice_Site_p.E60_splice|LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000518642.1_Splice_Site_p.E60_splice Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 60 cytoplasm p.?(1) breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2) 34 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TGAAACTTACCAATTTTCCCA 0.323000 9 36 0 0 0.006214 0 0 OR56A3 390083 broad.mit.edu 37 11 5969145 5969145 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr11:5969145G>T ENST00000329564.6 + 1 576 c.569G>T c.(568-570)aGa>aTa p.R190I NM_001003443.2 NP_001003443.2 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, member 3 190 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R190I(1) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTGTTTCCAGACTCTCCTGC 0.473000 17 130 2.48551e-13 3.94583e-13 0.004990 1 0 FCRL3 115352 broad.mit.edu 37 1 157650837 157650837 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:157650837C>G ENST00000368184.3 - 12 2182 c.1891G>C c.(1891-1893)Gac>Cac p.D631H FCRL3_ENST00000368186.5_Missense_Mutation_p.D631H|FCRL3_ENST00000473231.1_5'UTR NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 631 integral to membrane|plasma membrane receptor activity p.D631H(1) autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) TCTTGAGGGTCTATCCTGGAA 0.537000 5 56 0 0 0.014758 0 0 SPEF2 79925 broad.mit.edu 37 5 35659145 35659145 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr5:35659145A>T ENST00000440995.2 + 8 1003 c.1003A>T c.(1003-1005)Att>Ttt p.I335F SPEF2_ENST00000509059.1_Missense_Mutation_p.I335F|SPEF2_ENST00000356031.3_Missense_Mutation_p.I335F|SPEF2_ENST00000282469.6_Missense_Mutation_p.I335F Q9C093 SPEF2_HUMAN sperm flagellar 2 335 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity p.I335F(2) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGAACAGCTGATTAACCGGCT 0.478000 4 28 0 0 0.004482 0 0 CT45A5 441521 broad.mit.edu 37 X 134947928 134947928 + Nonsense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:134947928C>A ENST00000370724.3 - 3 641 c.397G>T c.(397-399)Gaa>Taa p.E133* CT45A4_ENST00000420087.2_Intron|CT45A5_ENST00000491480.1_Nonsense_Mutation_p.E133* NM_001007551.3|NM_001172288.1 NP_001007552.1|NP_001165759.1 Q6NSH3 CT455_HUMAN cancer/testis antigen family 45, member A5 133 p.E133*(1) endometrium(1)|large_intestine(2)|lung(6) 9 CATCGGATTTCCTTCACTACT 0.388000 21 177 5.35356e-11 7.847e-11 0.016522 1 0 AVPR1A 552 broad.mit.edu 37 12 63544585 63544585 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr12:63544585G>T ENST00000299178.2 - 1 137 c.32C>A c.(31-33)cCc>cAc p.P11H NM_000706.4 NP_000697.1 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 11 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 p.P11H(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1) 26 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) GTTGCCCGAGGGCCCCGCGTC 0.731000 25 35 7.92952e-12 1.2052e-11 0.021523 1 0 CDH10 1008 broad.mit.edu 37 5 24491831 24491831 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr5:24491831C>T ENST00000264463.4 - 11 2237 c.1730G>A c.(1729-1731)aGc>aAc p.S577N CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 577 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.S577N(1) NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) GCCTGTGCTGCTCTGAATTGG 0.488000 HNSCC(23;0.051) 7 86 0 0 0.003080 0 0 TCF7L1 83439 broad.mit.edu 37 2 85533621 85533621 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr2:85533621C>T ENST00000282111.3 + 10 1471 c.1196C>T c.(1195-1197)gCc>gTc p.A399V NM_031283.2 NP_112573.1 Q9HCS4 TF7L1_HUMAN transcription factor 7-like 1 (T-cell specific, HMG-box) 399 chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.A399V(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1) 18 TACGAGCTGGCCCGGAAGGAG 0.612000 13 55 0 0 0.004990 0 0 SELP 6403 broad.mit.edu 37 1 169566244 169566244 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:169566244G>T ENST00000263686.6 - 11 1913 c.1876C>A c.(1876-1878)Cca>Aca p.P626T SELP_ENST00000367794.2_Missense_Mutation_p.P564T|SELP_ENST00000367793.2_Missense_Mutation_p.P564T|SELP_ENST00000367791.2_Intron|SELP_ENST00000458599.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.P564T|SELP_ENST00000367786.2_Missense_Mutation_p.P564T|SELP_ENST00000367792.2_Intron NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 626 Sushi 7. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding p.P626T(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) CAGGTTGGTGGAGTAGCTGAC 0.398000 11 71 5.50884e-06 6.6379e-06 0.013537 1 0 SLC6A17 388662 broad.mit.edu 37 1 110738261 110738261 + Nonsense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:110738261G>T ENST00000331565.4 + 10 2031 c.1546G>T c.(1546-1548)Gga>Tga p.G516* NM_001010898.2 NP_001010898.1 Q9H1V8 S6A17_HUMAN solute carrier family 6 (neutral amino acid transporter), member 17 516 alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity p.G516*(1) breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) CCAGCGCTCCGGAAACTACTT 0.572000 8 78 0.00448238 0.00479615 0.004482 1 0 RABL5 64792 broad.mit.edu 37 7 100958530 100958530 + Nonsense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr7:100958530G>C ENST00000517481.1 - 6 582 c.212C>G c.(211-213)tCa>tGa p.S71* RABL5_ENST00000498704.2_Nonsense_Mutation_p.S71*|RABL5_ENST00000495166.1_5'UTR|RABL5_ENST00000437644.2_Nonsense_Mutation_p.S118*|RABL5_ENST00000315322.4_Nonsense_Mutation_p.S148* Q9H7X7 RABL5_HUMAN RAB, member RAS oncogene family-like 5 148 GTP binding p.S148*(1) endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 7 Lung NSC(181;0.215) TTCCAGGTTTGAGTGCACCAG 0.443000 OREG0018221 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 118 0 0 0.010729 0 0 TEX11 56159 broad.mit.edu 37 X 69849576 69849576 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:69849576G>T ENST00000395889.2 - 19 1693 c.1538C>A c.(1537-1539)gCa>gAa p.A513E TEX11_ENST00000374333.2_Missense_Mutation_p.A498E|TEX11_ENST00000344304.3_Missense_Mutation_p.A513E|TEX11_ENST00000374320.2_Missense_Mutation_p.A188E NM_001003811.1 NP_001003811.1 Q8IYF3 TEX11_HUMAN testis expressed 11 513 protein binding p.A498E(1) breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3) 48 Renal(35;0.156) AGTAATTATTGCCTGCAAAGC 0.313000 5 62 0.000602214 0.000667049 0.014758 1 0 FLII 2314 broad.mit.edu 37 17 18150366 18150366 + Splice_Site SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr17:18150366C>G ENST00000327031.4 - 22 2902 c.2676_splice c.e22-1 p.A893_splice FLII_ENST00000579294.1_Splice_Site_p.A882_splice|FLII_ENST00000578558.1_Intron|FLII_ENST00000545457.2_Splice_Site_p.A838_splice|FLII_ENST00000379450.4_Splice_Site_p.A807_splice NM_002018.3 NP_002009.1 Q13045 FLII_HUMAN flightless I homolog (Drosophila) 893 Glu-rich. multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding p.A893P(1) central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_neural(463;0.228) AGCTGCTCCGCCTGCAGGTGA 0.706000 8 55 0 0 0.016723 0 0 PLAC1 10761 broad.mit.edu 37 X 133700520 133700520 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:133700520G>T ENST00000359237.4 - 3 478 c.193C>A c.(193-195)Cat>Aat p.H65N PLAC1_ENST00000476971.1_5'UTR NM_021796.3 NP_068568.1 Q9HBJ0 PLAC1_HUMAN placenta-specific 1 65 placenta development extracellular region p.H65N(1) large_intestine(4)|lung(1)|pancreas(1) 6 Acute lymphoblastic leukemia(192;0.000127) GGCTGAACATGGTTTGGGGGG 0.502000 29 205 7.26314e-15 1.18469e-14 0.007291 1 0 NLGN4X 57502 broad.mit.edu 37 X 5821792 5821792 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:5821792C>T ENST00000381095.3 - 5 1554 c.927G>A c.(925-927)ctG>ctA p.L309L NLGN4X_ENST00000538097.1_Silent_p.L309L|NLGN4X_ENST00000275857.6_Silent_p.L309L|NLGN4X_ENST00000381092.1_Silent_p.L309L|NLGN4X_ENST00000381093.2_Silent_p.L329L NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 309 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity p.L309L(1) breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 CCGTGGTGTCCAGCATGTTGC 0.592000 24 102 0 0 0.027356 0 0 PLCB4 5332 broad.mit.edu 37 20 9416206 9416206 + Splice_Site SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr20:9416206G>T ENST00000378501.2 + 25 2503 c.e25-1 PLCB4_ENST00000492632.1_Splice_Site|PLCB4_ENST00000414679.2_Splice_Site|PLCB4_ENST00000278655.4_Splice_Site|PLCB4_ENST00000378493.1_Splice_Site|PLCB4_ENST00000334005.3_Splice_Site|PLCB4_ENST00000378473.3_Splice_Site NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity p.?(1) NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 TTTTCCCCTAGATATCGTGGA 0.348000 8 63 0.000274275 0.00030892 0.004482 1 0 COL4A2 1284 broad.mit.edu 37 13 111132690 111132690 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr13:111132690C>A ENST00000360467.5 + 31 3017 c.2711C>A c.(2710-2712)cCt>cAt p.P904H NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 904 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding p.P904H(1) NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) CCAGGAAGCCCTGGATTTAAA 0.577000 12 123 3.27435e-08 4.35766e-08 0.020292 1 0 GCH1 2643 broad.mit.edu 37 14 55310797 55310797 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr14:55310797A>T ENST00000491895.2 - 6 879 c.691T>A c.(691-693)Ttg>Atg p.L231M GCH1_ENST00000395514.1_Missense_Mutation_p.L231M|GCH1_ENST00000536224.2_Intron|GCH1_ENST00000543643.2_Intron|GCH1_ENST00000254299.4_5'UTR NM_000161.2 NP_000152.1 P30793 GCH1_HUMAN GTP cyclohydrolase 1 231 dopamine biosynthetic process|GTP catabolic process|neuromuscular process controlling posture|nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|protein homooligomerization|response to interferon-gamma|response to lipopolysaccharide|response to pain|response to tumor necrosis factor|tetrahydrobiopterin biosynthetic process|tetrahydrofolate biosynthetic process cytoplasmic vesicle|cytosol|nuclear membrane|protein complex GTP binding|GTP cyclohydrolase I activity|protein homodimerization activity|zinc ion binding p.L231M(1) endometrium(2)|lung(7)|skin(2) 11 AACACACCCAACATTGTGCTG 0.463000 18 170 0 0 0.006122 0 0 TNFAIP8L3 388121 broad.mit.edu 37 15 51350211 51350211 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr15:51350211A>T ENST00000327536.5 - 3 845 c.746T>A c.(745-747)aTc>aAc p.I249N RP11-108K3.1_ENST00000559909.1_lincRNA NM_207381.2 NP_997264.2 Q5GJ75 TP8L3_HUMAN tumor necrosis factor, alpha-induced protein 8-like 3 249 p.I249N(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 11 all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338) GACGTGGTTGATGCGCCCGTG 0.552000 12 51 0 0 0.013537 0 0 SEPT6 23157 broad.mit.edu 37 X 118771019 118771019 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:118771019C>T ENST00000394610.1 - 7 1191 c.927G>A c.(925-927)aaG>aaA p.K309K SEPT6_ENST00000489216.1_Silent_p.K309K|SEPT6_ENST00000354228.4_Silent_p.K309K|SEPT6_ENST00000394617.2_Silent_p.K339K|SEPT6_ENST00000360156.7_Silent_p.K309K|SEPT6_ENST00000354416.3_Silent_p.K309K|SEPT6_ENST00000394616.4_Silent_p.K251K|SEPT6_ENST00000343984.5_Silent_p.K309K NM_145799.3 NP_665798.1 Q14141 SEPT6_HUMAN septin 6 309 cell cycle|cytokinesis|interspecies interaction between organisms cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle GTP binding|protein binding p.K309K(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3) 17 GGTCGGTGTCCTTGAAGCCCA 0.612000 T MLL AML 10 85 0 0 0.013537 0 0 SEZ6L 23544 broad.mit.edu 37 22 26706764 26706764 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr22:26706764A>T ENST00000529632.2 + 7 1839 c.1643A>T c.(1642-1644)cAg>cTg p.Q548L SEZ6L_ENST00000343706.4_Missense_Mutation_p.Q548L|SEZ6L_ENST00000248933.6_Missense_Mutation_p.Q548L|SEZ6L_ENST00000403121.1_Missense_Mutation_p.Q321L|SEZ6L_ENST00000404234.3_Missense_Mutation_p.Q548L|SEZ6L_ENST00000360929.3_Missense_Mutation_p.Q548L|SEZ6L_ENST00000402979.1_Missense_Mutation_p.Q321L NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 548 CUB 2. endoplasmic reticulum membrane|integral to membrane p.Q548L(1) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 ACGTCCGACCAGGCCCGGGCG 0.597000 13 140 0 0 0.004990 0 0 FAT4 79633 broad.mit.edu 37 4 126372425 126372425 + Silent SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr4:126372425A>T ENST00000394329.3 + 9 10267 c.10254A>T c.(10252-10254)ccA>ccT p.P3418P FAT4_ENST00000335110.5_Silent_p.P1716P NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3418 Cadherin 33. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P3418P(2) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AAGGGGTCCCAATAGGAACTC 0.453000 37 220 0 0 0.019004 0 0 OR4D11 219986 broad.mit.edu 37 11 59271767 59271767 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr11:59271767G>T ENST00000313253.1 + 1 719 c.719G>T c.(718-720)tGc>tTc p.C240F NM_001004706.1 NP_001004706.1 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, member 11 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C240F(1) endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 ATCTCCACTTGCACCTCCCAC 0.552000 37 320 1.58521e-26 2.88464e-26 0.023175 1 0 LRBA 987 broad.mit.edu 37 4 151792559 151792559 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr4:151792559C>A ENST00000535741.1 - 19 2778 c.2305G>T c.(2305-2307)Gct>Tct p.A769S LRBA_ENST00000507224.1_Missense_Mutation_p.A769S|LRBA_ENST00000510413.1_Missense_Mutation_p.A769S|LRBA_ENST00000357115.3_Missense_Mutation_p.A769S P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 769 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding p.A769S(1) breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) AGCCTTTCAGCTAGCAATGAA 0.363000 33 179 1.04352e-10 1.50076e-10 0.017118 1 0 MYOCD 93649 broad.mit.edu 37 17 12666878 12666878 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr17:12666878C>A ENST00000425538.1 + 14 3078 c.2878C>A c.(2878-2880)Ccc>Acc p.P960T MYOCD_ENST00000343344.4_Missense_Mutation_p.P912T|RP11-1090M7.1_ENST00000584772.1_RNA NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 912 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding p.P960T(1)|p.P912T(1) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CACCAGCAGCCCCAGCATCTT 0.517000 11 60 1.58986e-06 1.96893e-06 0.008291 1 0 REG3A 5068 broad.mit.edu 37 2 79385822 79385822 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr2:79385822G>C ENST00000393878.1 - 2 404 c.150C>G c.(148-150)caC>caG p.H50Q REG3A_ENST00000305165.2_Missense_Mutation_p.H50Q|REG3A_ENST00000409839.3_Missense_Mutation_p.H50Q|AC011754.1_ENST00000415201.1_RNA NM_138938.2 NP_620355.1 Q06141 REG3A_HUMAN regenerating islet-derived 3 alpha 50 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding p.H50Q(1) breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1) 50 AGGCATAGCAGTGGGAGCCAT 0.572000 5 61 0 0 0.014758 0 0 OR10K2 391107 broad.mit.edu 37 1 158390597 158390597 + Silent SNP C C A rs138054803 TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:158390597C>A ENST00000314902.2 - 1 59 c.60G>T c.(58-60)ctG>ctT p.L20L NM_001004476.1 NP_001004476.1 Q6IF99 O10K2_HUMAN olfactory receptor, family 10, subfamily K, member 2 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L20L(1) NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) GCAGCCTGGCCAGGGATGAGA 0.522000 8 40 3.86212e-05 4.46271e-05 0.008291 1 0 ODF1 4956 broad.mit.edu 37 8 103573108 103573108 + Missense_Mutation SNP T T C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr8:103573108T>C ENST00000285402.3 + 2 905 c.749T>C c.(748-750)tTg>tCg p.L250S ODF1_ENST00000518835.1_Missense_Mutation_p.L43S NM_024410.3 NP_077721.2 Q14990 ODFP1_HUMAN outer dense fiber of sperm tails 1 250 cell differentiation|multicellular organismal development|spermatogenesis outer dense fiber structural molecule activity p.L250S(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826) AAGATGATTTTGTAAAGTGCG 0.517000 17 228 0 0 0.006122 0 0 PTH 5741 broad.mit.edu 37 11 13514017 13514017 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr11:13514017C>T ENST00000282091.1 - 3 397 c.283G>A c.(283-285)Gaa>Aaa p.E95K PTH_ENST00000529816.1_Missense_Mutation_p.E95K NM_000315.2 NP_000306.1 P01270 PTHY_HUMAN parathyroid hormone 95 bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development hormone activity|peptide hormone receptor binding p.E95K(1) endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 10 BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836) AGACTTTTTTCATGGCTCTCA 0.438000 11 62 0 0 0.008291 0 0 KRT6B 3854 broad.mit.edu 37 12 52841600 52841600 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr12:52841600G>A ENST00000252252.3 - 7 1433 c.1386C>T c.(1384-1386)atC>atT p.I462I NM_005555.3 NP_005546.2 P04259 K2C6B_HUMAN keratin 6B 462 Coil 2.|Rod. ectoderm development keratin filament structural constituent of cytoskeleton p.I462I(1) NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2) 40 BRCA - Breast invasive adenocarcinoma(357;0.083) GGTAGGTGGCGATCTCCACAT 0.612000 13 186 0 0 0.020292 0 0 IL31RA 133396 broad.mit.edu 37 5 55212479 55212479 + Missense_Mutation SNP T T A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr5:55212479T>A ENST00000396834.1 + 17 2265 c.1769T>A c.(1768-1770)cTa>cAa p.L590Q IL31RA_ENST00000490985.1_Missense_Mutation_p.L467Q|IL31RA_ENST00000447346.2_Missense_Mutation_p.L609Q|IL31RA_ENST00000359040.5_Missense_Mutation_p.L609Q|IL31RA_ENST00000354961.4_Missense_Mutation_p.L590Q NM_001242638.1 NP_001229567.1 Q8NI17 IL31R_HUMAN interleukin 31 receptor A 577 anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity p.L609Q(1) endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) CAGGATAAGCTAAACCTGAAG 0.448000 23 136 0 0 0.009535 0 0 HIP1 3092 broad.mit.edu 37 7 75189162 75189162 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr7:75189162C>T ENST00000336926.6 - 14 1275 c.1249G>A c.(1249-1251)Gcc>Acc p.A417T HIP1_ENST00000434438.2_Missense_Mutation_p.A417T NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 417 pDED. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton p.A417T(1) breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 TGCTGCTCGGCCAGATCTGCT 0.672000 T PDGFRB CMML 3 11 0 0 0.001984 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79063993 79063993 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr15:79063993G>A ENST00000388820.4 - 15 2520 c.2310C>T c.(2308-2310)taC>taT p.Y770Y ADAMTS7_ENST00000566303.1_Intron NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 770 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.Y770Y(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CCCTGCGTGCGTATGTGAAGG 0.657000 4 37 0 0 0.009096 0 0 CATSPER1 117144 broad.mit.edu 37 11 65790348 65790348 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr11:65790348C>A ENST00000312106.5 - 2 1538 c.1401G>T c.(1399-1401)caG>caT p.Q467H NM_053054.3 NP_444282.3 Q8NEC5 CTSR1_HUMAN cation channel, sperm associated 1 467 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding p.Q467H(1) breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 CAGCGAAGGTCTGGGCCACCA 0.577000 OREG0021092 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 118 5.9392e-07 7.51175e-07 0.021553 1 0 JPH3 57338 broad.mit.edu 37 16 87678552 87678552 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr16:87678552C>G ENST00000284262.2 + 2 1313 c.1071C>G c.(1069-1071)agC>agG p.S357R NM_020655.2 NP_065706.2 Q8WXH2 JPH3_HUMAN junctophilin 3 357 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding p.S357R(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(80;0.0287) TGCGGGCCAGCAAGATCCGCG 0.662000 3 58 0 0 0.004672 0 0 ATP11A 23250 broad.mit.edu 37 13 113527887 113527887 + Splice_Site SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr13:113527887C>G ENST00000487903.1 + 27 3146 c.3057_splice c.e27-1 p.L1020_splice ATP11A_ENST00000375645.3_Splice_Site_p.L1020_splice|ATP11A_ENST00000283558.8_Splice_Site_p.L1020_splice|ATP11A_ENST00000375630.2_Splice_Site_p.L1020_splice P98196 AT11A_HUMAN ATPase, class VI, type 11A 1020 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.L1020V(2) NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) TTCCTTTTAGCTTGCATTGGA 0.488000 OREG0003854 type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 17 98 0 0 0.004990 0 0 GLRA3 8001 broad.mit.edu 37 4 175636673 175636673 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr4:175636673C>A ENST00000274093.3 - 5 1042 c.540G>T c.(538-540)atG>atT p.M180I GLRA3_ENST00000340217.5_Missense_Mutation_p.M180I NM_006529.2 NP_006520.2 O75311 GLRA3_HUMAN glycine receptor, alpha 3 180 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity p.M180I(1) endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) TTTGTACATCCATGGGAAAAT 0.274000 6 62 5.18039e-06 6.2846e-06 0.003080 1 0 MRC2 9902 broad.mit.edu 37 17 60765739 60765739 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr17:60765739C>T ENST00000303375.5 + 21 3438 c.3036C>T c.(3034-3036)gtC>gtT p.V1012V MRC2_ENST00000446119.2_5'UTR NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 1012 C-type lectin 6. endocytosis integral to membrane receptor activity|sugar binding p.V1012V(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 CCCAGCTGGTCACCATCACAA 0.582000 20 90 0 0 0.010504 0 0 RLIM 51132 broad.mit.edu 37 X 73812218 73812218 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:73812218C>A ENST00000332687.6 - 4 1150 c.932G>T c.(931-933)gGa>gTa p.G311V RLIM_ENST00000349225.2_Missense_Mutation_p.G311V NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 311 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding p.G311V(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CTGTCCTGATCCTGTAGATTC 0.478000 5 57 3.59834e-05 4.18502e-05 0.021553 1 0 ZNF618 114991 broad.mit.edu 37 9 116811997 116811997 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr9:116811997C>T ENST00000288466.7 + 14 2235 c.2136C>T c.(2134-2136)gcC>gcT p.A712A ZNF618_ENST00000374126.5_Silent_p.A805A|ZNF618_ENST00000470105.1_3'UTR NM_133374.2 NP_588615.2 Q5T7W0 ZN618_HUMAN zinc finger protein 618 805 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A722A(1)|p.A805A(1)|p.A712A(1) breast(1)|endometrium(4)|lung(10)|urinary_tract(1) 16 ACAAGGTGGCCATGATCCTGG 0.617000 12 47 0 0 0.013537 0 0 PSMD12 5718 broad.mit.edu 37 17 65340804 65340804 + Missense_Mutation SNP T T C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr17:65340804T>C ENST00000356126.3 - 9 1108 c.1001A>G c.(1000-1002)gAg>gGg p.E334G PSMD12_ENST00000357146.4_Missense_Mutation_p.E314G NM_002816.3 NP_002807.1 O00232 PSD12_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 334 PCI. 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 regulatory particle protein binding p.E334G(1) breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1) 13 all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13) TGCAGGACTCTCAAGGGAACC 0.393000 15 90 0 0 0.028581 0 0 OR9Q2 219957 broad.mit.edu 37 11 57958429 57958429 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr11:57958429C>A ENST00000311591.3 + 1 524 c.467C>A c.(466-468)gCc>gAc p.A156D NM_001005283.2 NP_001005283.1 Q8NGE9 OR9Q2_HUMAN olfactory receptor, family 9, subfamily Q, member 2 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A156D(1) breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Breast(21;0.0589) TTTTTCAGTGCCTTTGTTCGA 0.502000 18 105 5.03518e-11 7.40061e-11 0.007413 1 0 CNTN5 53942 broad.mit.edu 37 11 99932110 99932110 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr11:99932110C>A ENST00000524871.1 + 10 1437 c.1147C>A c.(1147-1149)Caa>Aaa p.Q383K CNTN5_ENST00000528682.1_Missense_Mutation_p.Q383K|CNTN5_ENST00000527185.1_Missense_Mutation_p.Q383K|CNTN5_ENST00000279463.3_Missense_Mutation_p.Q383K|CNTN5_ENST00000418526.2_Missense_Mutation_p.Q309K NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 383 Ig-like C2-type 3. cell adhesion anchored to membrane|plasma membrane protein binding p.Q383K(2) NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 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) CTTTCGTGGACAATTACAAGT 0.383000 14 39 9.05144e-12 1.37182e-11 0.016723 1 0 HGF 3082 broad.mit.edu 37 7 81335060 81335060 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr7:81335060G>T ENST00000222390.5 - 16 1993 c.1767C>A c.(1765-1767)gtC>gtA p.V589V HGF_ENST00000457544.2_Silent_p.V584V NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 589 Peptidase S1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity p.V589V(1) NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 AATCATCCAGGACAGCAGGCC 0.363000 8 76 3.09899e-07 3.9664e-07 0.004482 1 0 RYR2 6262 broad.mit.edu 37 1 237794761 237794761 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:237794761C>A ENST00000366574.2 + 42 6792 c.6475C>A c.(6475-6477)Cct>Act p.P2159T RYR2_ENST00000360064.6_Missense_Mutation_p.P2157T|RYR2_ENST00000542537.1_Missense_Mutation_p.P2143T NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2159 4 X approximate repeats. 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 p.P2157S(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 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) TTACCAGCACCCTAATCTCAT 0.453000 12 42 4.36969e-10 6.15206e-10 0.016723 1 0 FLT4 2324 broad.mit.edu 37 5 180048156 180048156 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr5:180048156G>T ENST00000261937.6 - 14 2195 c.2117C>A c.(2116-2118)gCg>gAg p.A706E FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.A706E|FLT4_ENST00000502649.1_Missense_Mutation_p.A706E NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 706 Ig-like C2-type 7. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity p.A706E(2)|p.A516E(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) GATGCTGGGCGCGTGCGCTCC 0.667000 8 58 2.17888e-05 2.56762e-05 0.006214 1 0 CILP2 148113 broad.mit.edu 37 19 19655874 19655874 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr19:19655874C>A ENST00000586018.1 + 8 2640 c.2538C>A c.(2536-2538)gaC>gaA p.D846E CILP2_ENST00000291495.4_Missense_Mutation_p.D840E Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 840 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity p.D840E(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 CCTACCTGGACAGGCTGGGGT 0.721000 10 23 0.00010058 0.000114979 0.013537 1 0 SLN 6588 broad.mit.edu 37 11 107578577 107578577 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr11:107578577C>A ENST00000531293.1 - 3 432 c.80G>T c.(79-81)aGg>aTg p.R27M SLN_ENST00000305991.2_Missense_Mutation_p.R27M|SLN_ENST00000525934.1_Missense_Mutation_p.R27M O00631 SARCO_HUMAN sarcolipin 27 calcium ion transport|regulation of calcium ion transport integral to membrane|sarcoplasmic reticulum membrane enzyme regulator activity p.R27M(1) large_intestine(1)|lung(1) 2 Melanoma(852;1.46e-05)|all_epithelial(67;1.72e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;2.71e-05)|Epithelial(105;0.000112)|all cancers(92;0.00219) CTGATAGGACCTCACAAGGAG 0.512000 8 79 1.06961e-07 1.39232e-07 0.003080 1 0 C4orf21 55345 broad.mit.edu 37 4 113506721 113506721 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr4:113506721C>A ENST00000505019.1 - 14 4202 c.4077G>T c.(4075-4077)atG>atT p.M1359I NM_018392.4 NP_060862.3 Q86YA3 CD021_HUMAN chromosome 4 open reading frame 21 0 p.M1359I(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) CCTTTTTAACCATGACAAGTT 0.363000 5 30 0.014758 0.0153609 0.014758 1 0 KCNE1L 23630 broad.mit.edu 37 X 108867958 108867958 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:108867958A>T ENST00000372101.2 - 1 435 c.292T>A c.(292-294)Tgc>Agc p.C98S RP1-136J15.3_ENST00000439581.1_RNA NM_012282.2 NP_036414.1 Q9UJ90 KCE1L_HUMAN KCNE1-like 98 regulation of heart contraction voltage-gated potassium channel complex p.C98S(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 6 TGCTCGGCGCAAGCCTGGGAC 0.721000 3 25 0 0 0.014758 0 0 CPA3 1359 broad.mit.edu 37 3 148586769 148586769 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr3:148586769G>A ENST00000296046.3 + 3 264 c.212G>A c.(211-213)aGt>aAt p.S71N RP11-680B3.2_ENST00000488190.1_RNA NM_001870.2 NP_001861.2 P15088 CBPA3_HUMAN carboxypeptidase A3 (mast cell) 71 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding p.S71N(1) NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) TTCCGAGTTAGTGAGAAGGAA 0.418000 7 69 0 0 0.001984 0 0 PON3 5446 broad.mit.edu 37 7 95001637 95001637 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr7:95001637G>A ENST00000265627.5 - 4 225 c.215C>T c.(214-216)cCa>cTa p.P72L PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Missense_Mutation_p.P72L NM_000940.2 NP_000931.1 paraoxonase 3 p.P72L(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 24 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0151) TGGCATGCCTGGATATTTTAA 0.348000 11 93 0 0 0.010729 0 0 GOLGA3 2802 broad.mit.edu 37 12 133360732 133360732 + Silent SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr12:133360732C>G ENST00000545875.1 - 16 3505 c.3285G>C c.(3283-3285)ctG>ctC p.L1095L GOLGA3_ENST00000450791.2_Intron|GOLGA3_ENST00000204726.3_Intron|GOLGA3_ENST00000537452.1_Silent_p.L1095L|GOLGA3_ENST00000456883.2_Intron NM_001172557.1 NP_001166028.1 Q08378 GOGA3_HUMAN golgin A3 0 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity p.L1095L(1) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GCCGCCACAGCAGATGGCCAG 0.627000 6 39 0 0 0.001984 0 0 TRBV6-8 28599 broad.mit.edu 37 7 142124226 142124226 + RNA SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr7:142124226G>A ENST00000390376.2 - 0 251 TTAATCTAGAGACATTGTAGC 0.522000 27 227 0 0 0.009718 0 0 USP6NL 9712 broad.mit.edu 37 10 11531201 11531201 + Silent SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr10:11531201C>A ENST00000379237.1 - 10 958 c.564G>T c.(562-564)ggG>ggT p.G188G USP6NL_ENST00000277575.5_Silent_p.G205G NM_014688.2 NP_055503.1 Q92738 US6NL_HUMAN USP6 N-terminal like 188 Rab-GAP TBC. intracellular Rab GTPase activator activity p.G205G(1) endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1) 32 TCTGGCTCATCCCCTGACAAT 0.483000 30 72 1.06801e-11 1.60954e-11 0.009535 1 0 SETBP1 26040 broad.mit.edu 37 18 42530897 42530897 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr18:42530897G>T ENST00000282030.5 + 4 1888 c.1592G>T c.(1591-1593)aGg>aTg p.R531M NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 531 nucleus DNA binding p.R477M(1)|p.R531M(1) NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) GCAAAACGAAGGTGGACTTGC 0.517000 Schinzel-Giedion syndrome 44 179 2.52991e-16 4.25629e-16 0.014410 1 0 RGS13 6003 broad.mit.edu 37 1 192613472 192613472 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:192613472G>T ENST00000391995.2 + 4 296 c.8G>T c.(7-9)aGg>aTg p.R3M RGS13_ENST00000543215.1_Missense_Mutation_p.R3M NM_002927.4 NP_002918.1 O14921 RGS13_HUMAN regulator of G-protein signaling 13 3 plasma membrane GTPase activator activity|signal transducer activity p.R3M(1) endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1) 19 AAAATGAGCAGGCGGAATTGT 0.289000 23 147 7.38237e-10 1.03392e-09 0.006320 1 0 C1orf186 440712 broad.mit.edu 37 1 206239421 206239421 + Silent SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:206239421A>T ENST00000331555.5 - 6 1115 c.477T>A c.(475-477)ccT>ccA p.P159P NM_001007544.1 NP_001007545.1 Q6ZWK4 CA186_HUMAN chromosome 1 open reading frame 186 159 integral to membrane p.P159P(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 9 BRCA - Breast invasive adenocarcinoma(75;0.0754) CAGACAGAGCAGGGTTGACAA 0.403000 29 100 0 0 0.019004 0 0 OR2T2 401992 broad.mit.edu 37 1 248616384 248616384 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:248616384C>T ENST00000342927.3 + 1 308 c.286C>T c.(286-288)Ctg>Ttg p.L96L NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L96L(1) cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 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) CATTTCCTTCCTGGGCTGTGC 0.527000 24 341 0 0 0.027356 0 0 PLCD3 113026 broad.mit.edu 37 17 43195505 43195505 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr17:43195505C>A ENST00000322765.5 - 7 1229 c.1116G>T c.(1114-1116)agG>agT p.R372S PLCD3_ENST00000540511.1_5'UTR NM_133373.3 NP_588614.1 Q8N3E9 PLCD3_HUMAN phospholipase C, delta 3 372 PI-PLC X-box. intracellular signal transduction|lipid catabolic process cleavage furrow|cytoplasm|membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.R372S(2) breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2) 17 Phosphatidylserine(DB00144) GGGCAAAGGCCCTGTGTGTGG 0.657000 9 54 0.000978159 0.001079 0.010729 1 0 PCDH11X 27328 broad.mit.edu 37 X 91642839 91642839 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:91642839G>T ENST00000373094.1 + 5 4095 c.3250G>T c.(3250-3252)Ggc>Tgc p.G1084C PCDH11X_ENST00000373097.1_Missense_Mutation_p.G1074C|PCDH11X_ENST00000298274.8_Missense_Mutation_p.G1047C|PCDH11X_ENST00000504220.1_Intron|PCDH11X_ENST00000361655.2_Missense_Mutation_p.G1074C|PCDH11X_ENST00000373088.1_Missense_Mutation_p.G1047C|PCDH11X_ENST00000406881.1_Missense_Mutation_p.G1084C NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 1084 homophilic cell adhesion integral to plasma membrane calcium ion binding p.G1084C(1) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CACATCTCATGGCCTGCCCCT 0.552000 12 78 4.36969e-10 6.15206e-10 0.016723 1 0 BAGE2 85319 broad.mit.edu 37 21 11098888 11098888 + RNA SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr21:11098888G>T ENST00000470054.1 - 0 37 B melanoma antigen family, member 2 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) ggtcctctaagccgggaacag 0.607000 4 25 0.00909568 0.00954155 0.009096 1 0 PAK7 57144 broad.mit.edu 37 20 9523281 9523281 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr20:9523281C>A ENST00000378429.3 - 10 2502 c.1956G>T c.(1954-1956)atG>atT p.M652I PAK7_ENST00000378423.1_Missense_Mutation_p.M652I|PAK7_ENST00000353224.5_Missense_Mutation_p.M652I NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 652 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity p.M652I(1) NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) GGATCCTCCGCATCGCCTGGA 0.512000 23 137 9.95505e-16 1.66436e-15 0.014323 1 0 WSCD1 23302 broad.mit.edu 37 17 5993675 5993675 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr17:5993675G>C ENST00000574946.1 + 4 967 c.577G>C c.(577-579)Gag>Cag p.E193Q WSCD1_ENST00000317744.5_Missense_Mutation_p.E193Q|WSCD1_ENST00000573634.1_Missense_Mutation_p.E77Q|WSCD1_ENST00000539421.1_Missense_Mutation_p.E193Q|WSCD1_ENST00000574232.1_Missense_Mutation_p.E193Q Q658N2 WSCD1_HUMAN WSC domain containing 1 193 WSC 1. integral to membrane sulfotransferase activity p.E193Q(1) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1) 35 GGCCGGGGCGGAGTGTTACTG 0.647000 4 47 0 0 0.008291 0 0 UNC13C 440279 broad.mit.edu 37 15 54914593 54914593 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr15:54914593G>A ENST00000545554.1 + 30 6175 c.6175G>A c.(6175-6177)Gga>Aga p.G2059R UNC13C_ENST00000539562.2_5'UTR|UNC13C_ENST00000260323.11_Missense_Mutation_p.G2059R|UNC13C_ENST00000537900.1_Missense_Mutation_p.G2057R Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 2059 C2 2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding p.G2059R(2) breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CCCAGGAACGGGAGATCATAA 0.443000 17 52 0 0 0.007413 0 0 PFKFB3 5209 broad.mit.edu 37 10 6268204 6268204 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr10:6268204C>T ENST00000379775.4 + 14 1721 c.1391C>T c.(1390-1392)cCg>cTg p.P464L PFKFB3_ENST00000379785.1_Missense_Mutation_p.P464L|PFKFB3_ENST00000317350.4_Missense_Mutation_p.P464L|PFKFB3_ENST00000360521.2_Missense_Mutation_p.P464L|PFKFB3_ENST00000379782.3_Missense_Mutation_p.P464L|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000540253.1_Missense_Mutation_p.P478L|PFKFB3_ENST00000379789.4_Missense_Mutation_p.P444L NM_004566.3 NP_004557.1 Q16875 F263_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 464 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding p.P464Q(2)|p.P464L(2) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1) 22 AGTGTCACCCCGCTAGCCAGC 0.577000 10 74 0 0 0.004990 0 0 FOXI1 2299 broad.mit.edu 37 5 169535126 169535126 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr5:169535126G>C ENST00000306268.6 + 2 709 c.648G>C c.(646-648)agG>agC p.R216S FOXI1_ENST00000449804.2_Intron Q12951 FOXI1_HUMAN forkhead box I1 216 epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity 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|transcription regulatory region DNA binding p.R216S(1) breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCAGGAAAAGGAAGAGAAAAT 0.498000 Pendred syndrome 15 129 0 0 0.028581 0 0 DRD2 1813 broad.mit.edu 37 11 113285167 113285167 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr11:113285167G>T ENST00000362072.3 - 6 1084 c.740C>A c.(739-741)cCc>cAc p.P247H DRD2_ENST00000544518.1_Missense_Mutation_p.P246H|DRD2_ENST00000542968.1_Missense_Mutation_p.P247H|DRD2_ENST00000355319.2_Missense_Mutation_p.P247H|DRD2_ENST00000346454.3_Intron|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000538967.1_Missense_Mutation_p.P247H NM_000795.3 NP_000786.1 P14416 DRD2_HUMAN dopamine receptor D2 247 Interaction with PPP1R9B (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding p.P247N(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) CATGTCCTCGGGGTGAGTACA 0.557000 40 212 3.78316e-11 5.59113e-11 0.025465 1 0 FYCO1 79443 broad.mit.edu 37 3 46006595 46006595 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr3:46006595C>A ENST00000296137.2 - 9 3285 c.3080G>T c.(3079-3081)aGc>aTc p.S1027I FYCO1_ENST00000535325.1_Missense_Mutation_p.S1027I NM_024513.3 NP_078789.2 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 1027 transport integral to membrane metal ion binding|protein binding p.S1027I(1) NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 54 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) GCCCCTGAGGCTCTTGCACTC 0.562000 5 56 0.00116845 0.00127315 0.021553 1 0 GAS2L2 246176 broad.mit.edu 37 17 34072787 34072787 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr17:34072787C>A ENST00000254466.6 - 6 1756 c.1729G>T c.(1729-1731)Gac>Tac p.D577Y GAS2L2_ENST00000587565.1_Missense_Mutation_p.D561Y NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 577 cell cycle arrest cytoplasm|cytoskeleton p.D577Y(1) central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AGGCCCAGGTCCCAGGACTCT 0.617000 29 87 5.61819e-17 9.4818e-17 0.027356 1 0 CCDC108 255101 broad.mit.edu 37 2 219896345 219896345 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr2:219896345C>T ENST00000341552.5 - 7 764 c.681G>A c.(679-681)gcG>gcA p.A227A CCDC108_ENST00000410037.1_Silent_p.A162A|CCDC108_ENST00000441968.1_Silent_p.A227A|CCDC108_ENST00000409865.3_Silent_p.A216A|CCDC108_ENST00000453220.1_Silent_p.A227A NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 227 integral to membrane structural molecule activity p.A227A(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 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) ACATCCCCTCCGCTTTCTCAA 0.627000 36 159 0 0 0.019004 0 0 SLC22A16 85413 broad.mit.edu 37 6 110763908 110763908 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr6:110763908C>A ENST00000368919.3 - 4 788 c.722G>T c.(721-723)tGg>tTg p.W241L SLC22A16_ENST00000456137.2_3'UTR|SLC22A16_ENST00000439654.1_Missense_Mutation_p.W241L|SLC22A16_ENST00000330550.4_Missense_Mutation_p.W207L NM_033125.3 NP_149116.2 Q86VW1 S22AG_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 16 241 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity p.W241L(1) breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 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) GACAGACGCCCATGTCCGAGA 0.453000 20 79 4.35082e-09 5.98377e-09 0.010504 1 0 NOVA1 4857 broad.mit.edu 37 14 26917950 26917950 + Missense_Mutation SNP T T A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr14:26917950T>A ENST00000539517.2 - 5 1056 c.739A>T c.(739-741)Agt>Tgt p.S247C NOVA1_ENST00000267422.7_Missense_Mutation_p.S125C|NOVA1_ENST00000465357.2_Missense_Mutation_p.S223C NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 250 locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding p.S247C(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) CAGCTGCCACTTTGTGGATCC 0.448000 29 119 0 0 0.007835 0 0 SLC22A3 6581 broad.mit.edu 37 6 160864687 160864687 + Missense_Mutation SNP G G T rs9365165 TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr6:160864687G>T ENST00000392145.1 + 9 1453 c.1426G>T c.(1426-1428)Ggt>Tgt p.G476C SLC22A3_ENST00000275300.2_Missense_Mutation_p.G475C O75751 S22A3_HUMAN solute carrier family 22 (organic cation transporter), member 3 475 integral to plasma membrane|membrane fraction protein binding|quaternary ammonium group transmembrane transporter activity p.G475C(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218) OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06) GCTCTGTTCAGGTCTGTGTGA 0.388000 8 88 2.74318e-10 3.93459e-10 0.006214 1 0 CFH 3075 broad.mit.edu 37 1 196621179 196621179 + Translation_Start_Site SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:196621179C>A ENST00000367429.4 + 0 172 CFH_ENST00000439155.2_De_novo_Start_OutOfFrame NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 AATCACAATTCTTGGAAGAGG 0.368000 3 29 0.004672 0.00497912 0.004672 1 0 CYYR1 116159 broad.mit.edu 37 21 27945240 27945240 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr21:27945240G>T ENST00000299340.4 - 1 363 c.20C>A c.(19-21)cCc>cAc p.P7H CYYR1_ENST00000400043.3_Missense_Mutation_p.P7H|CYYR1_ENST00000435845.2_Missense_Mutation_p.P115H NM_052954.2 NP_443186.1 Q96J86 CYYR1_HUMAN cysteine/tyrosine-rich 1 7 integral to membrane p.P7H(1) large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 15 TGGACGCACGGGTAGCCTCGG 0.662000 11 72 3.07112e-06 3.75125e-06 0.010729 1 0 NRK 203447 broad.mit.edu 37 X 105150543 105150543 + Missense_Mutation SNP A A G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:105150543A>G ENST00000428173.2 + 11 1285 c.982A>G c.(982-984)Agg>Ggg p.R328G NRK_ENST00000243300.9_Missense_Mutation_p.R328G Q7Z2Y5 NRK_HUMAN Nik related kinase 328 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity p.R328G(1) breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 GTCATTAACAAGGCATCTTAC 0.303000 HNSCC(51;0.14) 2 6 0 0 0.004672 0 0 CCDC54 84692 broad.mit.edu 37 3 107096514 107096514 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr3:107096514C>A ENST00000261058.1 + 1 327 c.80C>A c.(79-81)tCt>tAt p.S27Y NM_032600.2 NP_115989.1 Q8NEL0 CCD54_HUMAN coiled-coil domain containing 54 27 p.S27Y(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 19 GTCAGACAGTCTCTTAAAAAT 0.398000 45 157 5.34276e-22 9.46481e-22 0.014410 1 0 TRIOBP 11078 broad.mit.edu 37 22 38121216 38121216 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr22:38121216C>T ENST00000406386.3 + 7 2908 c.2653C>T c.(2653-2655)Cgc>Tgc p.R885C RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 885 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.R885C(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) ATCTCCCCACCGCTCCACTCA 0.532000 15 330 0 0 0.024245 0 0 CSMD1 64478 broad.mit.edu 37 8 2855596 2855596 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr8:2855596C>T ENST00000602557.1 - 55 8872 c.8317G>A c.(8317-8319)Ggc>Agc p.G2773S CSMD1_ENST00000602723.1_Missense_Mutation_p.G2715S|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2714S|CSMD1_ENST00000520002.1_Missense_Mutation_p.G2773S|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2772S|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2715S Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2773 Sushi 19. integral to membrane p.G2501S(1)|p.G2772S(1) 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) CGAGACACGCCCTGCAGCAAA 0.562000 20 79 0 0 0.012319 0 0 ZFHX4 79776 broad.mit.edu 37 8 77765635 77765635 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr8:77765635C>A ENST00000521891.2 + 10 6926 c.6478C>A c.(6478-6480)Cag>Aag p.Q2160K ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q2134K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q2115K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q2115K NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2115 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.Q2144K(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AGAACAGATCCAGGAAATGGC 0.378000 HNSCC(33;0.089) 9 118 0.000442599 0.000493314 0.006214 1 0 TMEM181 57583 broad.mit.edu 37 6 159028287 159028287 + Silent SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr6:159028287G>C ENST00000367090.3 + 8 1007 c.996G>C c.(994-996)gcG>gcC p.A332A NM_020823.1 NP_065874.1 Q9P2C4 TM181_HUMAN transmembrane protein 181 332 pathogenesis integral to membrane toxin binding p.A332A(1) central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1) 22 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05) GCCTGTTTGCGCATTCCCTCC 0.532000 14 87 0 0 0.024245 0 0 IL36B 27177 broad.mit.edu 37 2 113785526 113785526 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr2:113785526C>A ENST00000327407.2 - 5 535 c.428G>T c.(427-429)aGa>aTa p.R143I IL36B_ENST00000259213.4_Intron NM_173178.1 NP_775270.1 Q9NZH7 IL36B_HUMAN interleukin 36, beta 89 immune response extracellular space cytokine activity|interleukin-1 receptor binding p.R143I(1) kidney(1)|ovary(1)|pancreas(1) 3 AGTTATGCCTCTCTCCTTGGT 0.473000 23 95 1.36565e-18 2.33425e-18 0.016522 1 0 C1QB 713 broad.mit.edu 37 1 22986035 22986035 + Missense_Mutation SNP T T G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:22986035T>G ENST00000509305.1 + 2 426 c.80T>G c.(79-81)cTc>cGc p.L27R C1QB_ENST00000314933.6_Missense_Mutation_p.L29R P02746 C1QB_HUMAN complement component 1, q subcomponent, B chain 29 complement activation, classical pathway|innate immune response collagen|complement component C1 complex p.L29R(1) breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) 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) CAGGCCCAGCTCAGCTGCACC 0.607000 9 77 0 0 0.004482 0 0 EPT1 85465 broad.mit.edu 37 2 26587740 26587740 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr2:26587740C>T ENST00000260585.7 + 3 286 c.167C>T c.(166-168)tCt>tTt p.S56F NM_033505.2 NP_277040.1 Q9C0D9 EPT1_HUMAN ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific) 56 phospholipid biosynthetic process integral to membrane ethanolaminephosphotransferase activity|metal ion binding p.S56F(1) ATAACTTTTTCTGGCTTTCTG 0.318000 14 61 0 0 0.008871 0 0 PCDH10 57575 broad.mit.edu 37 4 134071779 134071779 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr4:134071779A>T ENST00000264360.4 + 1 1310 c.484A>T c.(484-486)Acc>Tcc p.T162S NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 162 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.T162S(1) NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) CTACGAGATCACCCCCAACAG 0.622000 18 115 0 0 0.007413 0 0 C4orf36 132989 broad.mit.edu 37 4 87808958 87808958 + Silent SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr4:87808958C>G ENST00000473559.1 - 7 972 c.309G>C c.(307-309)ctG>ctC p.L103L C4orf36_ENST00000295898.3_Silent_p.L103L Q96KX1 CD036_HUMAN chromosome 4 open reading frame 36 103 p.L103L(1) breast(1)|kidney(1)|lung(1)|prostate(1) 4 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00141) GCCTTTCCCTCAGGAGAAGCT 0.413000 13 63 0 0 0.016723 0 0 ABCB1 5243 broad.mit.edu 37 7 87144598 87144598 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr7:87144598G>T ENST00000265724.3 - 26 3648 c.3231C>A c.(3229-3231)agC>agA p.S1077R ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.S1013R NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 1077 ABC transporter 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity p.S1077R(1) NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) GGACCACTGTGCTCTTCCCAC 0.572000 5 44 1.23904e-05 1.47636e-05 0.014758 1 0 CDH8 1006 broad.mit.edu 37 16 61851398 61851398 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr16:61851398G>A ENST00000577390.1 - 7 2216 c.1262C>T c.(1261-1263)aCt>aTt p.T421I CDH8_ENST00000299345.6_Missense_Mutation_p.T421I|CDH8_ENST00000584337.1_Missense_Mutation_p.T421I|CDH8_ENST00000577730.1_Missense_Mutation_p.T421I NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 421 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.T421I(1) biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) AGGACTGGAAGTGATATCAGG 0.433000 7 43 0 0 0.003080 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36271365 36271365 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr19:36271365G>C ENST00000007510.4 + 8 811 c.667G>C c.(667-669)Gat>Cat p.D223H ARHGAP33_ENST00000378944.5_Missense_Mutation_p.D87H|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.D223H O14559 RHG33_HUMAN Rho GTPase activating protein 33 223 SH3. cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding p.D223H(1) endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 ACCCACAGAGGATCGGAGCTG 0.667000 4 37 0 0 0.014758 0 0 GKN1 56287 broad.mit.edu 37 2 69206066 69206066 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr2:69206066G>T ENST00000377938.2 + 4 373 c.310G>T c.(310-312)Gtc>Ttc p.V104F NM_019617.3 NP_062563.3 Q9NS71 GKN1_HUMAN gastrokine 1 104 BRICHOS. digestion|positive regulation of cell division extracellular region p.V104F(1) breast(2)|large_intestine(4)|lung(5) 11 GAACAAGGAAGTCATGCCCTC 0.408000 13 68 3.45872e-05 4.0402e-05 0.028581 1 0 MIOS 54468 broad.mit.edu 37 7 7613232 7613232 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr7:7613232G>C ENST00000340080.4 + 4 1547 c.1126G>C c.(1126-1128)Gaa>Caa p.E376Q MIOS_ENST00000405785.1_Missense_Mutation_p.E376Q NM_019005.3 NP_061878.3 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog (Drosophila) 376 p.E376Q(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TCATTTATATGAATGTACGGA 0.393000 22 130 0 0 0.012319 0 0 CACNA1I 8911 broad.mit.edu 37 22 40055839 40055839 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr22:40055839G>T ENST00000336649.4 + 17 2604 c.2604G>T c.(2602-2604)gtG>gtT p.V868V CACNA1I_ENST00000400164.3_Silent_p.V827V|CACNA1I_ENST00000407673.1_Silent_p.V827V|CACNA1I_ENST00000404898.1_Silent_p.V827V|CACNA1I_ENST00000401624.1_Silent_p.V862V|CACNA1I_ENST00000402142.3_Silent_p.V862V Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 862 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding p.V862V(1)|p.V827V(1) breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) CCATCCTGGTGGAGGGCTTCC 0.622000 13 97 7.03913e-09 9.60697e-09 0.013537 1 0 TNFRSF21 27242 broad.mit.edu 37 6 47251938 47251938 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr6:47251938G>C ENST00000296861.2 - 3 1372 c.979C>G c.(979-981)Ccc>Gcc p.P327A NM_014452.3 NP_055267.1 O75509 TNR21_HUMAN tumor necrosis factor receptor superfamily, member 21 327 cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity p.P327A(1) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2) 21 Lung(136;0.189) CCCTTGATGGGCGTGCTGGAC 0.552000 30 243 0 0 0.009535 0 0 SCN4A 6329 broad.mit.edu 37 17 62049513 62049513 + Silent SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr17:62049513G>C ENST00000578147.1 - 3 541 c.465C>G c.(463-465)ccC>ccG p.P155P SCN4A_ENST00000435607.1_Silent_p.P155P P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 155 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity p.P155P(1) breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) TCTTGGACCAGGGAGGCGGGT 0.552000 4 24 0 0 0.021553 0 0 LTF 4057 broad.mit.edu 37 3 46485038 46485038 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr3:46485038C>A ENST00000231751.4 - 13 1844 c.1549G>T c.(1549-1551)Gac>Tac p.D517Y LTF_ENST00000426532.2_Missense_Mutation_p.D473Y|LTF_ENST00000417439.1_Missense_Mutation_p.D515Y NM_002343.3 NP_002334.2 P02788 TRFL_HUMAN lactotransferrin 517 Transferrin-like 2. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity p.D517Y(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 40 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) GATCTCGGGTCAGACCCAGGG 0.517000 16 169 4.7546e-09 6.50566e-09 0.028581 1 0 XCL1 6375 broad.mit.edu 37 1 168550395 168550395 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:168550395G>T ENST00000367818.3 + 3 447 c.282G>T c.(280-282)atG>atT p.M94I NM_002995.2 NP_002986.1 P47992 XCL1_HUMAN chemokine (C motif) ligand 1 94 CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production extracellular space chemokine activity|protein homodimerization activity p.M94I(1) kidney(2)|lung(7)|upper_aerodigestive_tract(1) 10 all_hematologic(923;0.208) GAAATAACATGATCCAGACCA 0.527000 10 48 4.68919e-08 6.1791e-08 0.008291 1 0 SLC18A2 6571 broad.mit.edu 37 10 119015006 119015006 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr10:119015006G>T ENST00000298472.5 + 8 950 c.807G>T c.(805-807)gtG>gtT p.V269V SLC18A2_ENST00000497497.1_3'UTR NM_003054.4 NP_003045.2 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 2 269 neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity p.V269V(1) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16) 29 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) AGCTCTTTGTGCTCCAGCCGT 0.542000 15 59 1.15088e-07 1.48009e-07 0.028581 1 0 HSP90AA1 3320 broad.mit.edu 37 14 102551666 102551666 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr14:102551666G>A ENST00000334701.7 - 5 1279 c.998C>T c.(997-999)tCt>tTt p.S333F HSP90AA1_ENST00000441629.2_Missense_Mutation_p.S32F|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.S211F NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 211 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding p.S333F(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) AATAAACTGAGAATGTTTCTT 0.378000 9 47 0 0 0.006214 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 10 107 0 0 0.028581 0 0 OR2T11 127077 broad.mit.edu 37 1 248790155 248790155 + Missense_Mutation SNP A A C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:248790155A>C ENST00000330803.2 - 1 336 c.275T>G c.(274-276)gTg>gGg p.V92G NM_001001964.1 NP_001001964.1 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene) 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V92G(1) breast(1)|large_intestine(5)|lung(20)|skin(2) 28 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) GCCACAGGCCACAAAGGAAAT 0.498000 12 61 0 0 0.013537 0 0 MUC17 140453 broad.mit.edu 37 7 100680394 100680394 + Silent SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr7:100680394C>A ENST00000306151.4 + 3 5761 c.5697C>A c.(5695-5697)acC>acA p.T1899T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1899 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.T1900P(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CACCTGTGACCACTTATGCTC 0.498000 60 446 1.12357e-39 2.1316e-39 0.014410 1 0 OBSCN 84033 broad.mit.edu 37 1 228548137 228548137 + Missense_Mutation SNP T T C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:228548137T>C ENST00000284548.11 + 81 19618 c.19544T>C c.(19543-19545)cTc>cCc p.L6515P OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.L3634P|OBSCN_ENST00000422127.1_Intron Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 0 Protein kinase 1. 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 p.L6515P(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CCTGTGCTGCTCAGCGTGGGG 0.701000 4 28 0 0 0.004482 0 0 FAM135B 51059 broad.mit.edu 37 8 139268931 139268931 + Splice_Site SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr8:139268931C>A ENST00000395297.1 - 5 539 c.e5+1 NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B p.?(2) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 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) ATGACACTCACTGCTGTTCAC 0.463000 HNSCC(54;0.14) 10 58 4.68919e-08 6.1791e-08 0.008291 1 0 PEAR1 375033 broad.mit.edu 37 1 156877441 156877441 + Silent SNP C C T rs148520058 byFrequency TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:156877441C>T ENST00000338302.3 + 8 909 c.684C>T c.(682-684)ttC>ttT p.F228F PEAR1_ENST00000292357.7_Silent_p.F228F Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 228 EGF-like 2. integral to membrane p.F228F(1) breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTGGCTTCTTCTGCCCCAGCA 0.582000 85 321 0 0 0.014410 0 0 NLRP10 338322 broad.mit.edu 37 11 7981815 7981815 + Silent SNP A A G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr11:7981815A>G ENST00000328600.2 - 2 1505 c.1344T>C c.(1342-1344)agT>agC p.S448S NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 448 NACHT. ATP binding p.S448S(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) AGTCGTTACTACTCAGGAAAG 0.483000 27 165 0 0 0.006320 0 0 METTL17 64745 broad.mit.edu 37 14 21458201 21458201 + Missense_Mutation SNP T T C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr14:21458201T>C ENST00000339374.6 + 1 273 c.40T>C c.(40-42)Tgg>Cgg p.W14R METTL17_ENST00000556670.2_Missense_Mutation_p.W14R|METTL17_ENST00000555177.1_3'UTR|METTL17_ENST00000382985.4_Missense_Mutation_p.W14R NM_001029991.1|NM_022734.2 NP_001025162.1|NP_073571.1 Q9H7H0 MET17_HUMAN methyltransferase like 17 14 translation mitochondrion|ribosome copper ion binding|methyltransferase activity p.W14R(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2) 20 ATTAGGAAGATGGTGCCCCGG 0.622000 11 66 0 0 0.024334 0 0 PCDH8 5100 broad.mit.edu 37 13 53422541 53422541 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr13:53422541A>T ENST00000377942.3 - 1 234 c.31T>A c.(31-33)Tgc>Agc p.C11S PCDH8_ENST00000338862.4_Missense_Mutation_p.C11S NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 11 cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding p.C11S(1) breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) GGGAAAAGGCAGGGGCTGCCC 0.602000 10 84 0 0 0.010729 0 0 FAM211A 388341 broad.mit.edu 37 17 16347377 16347377 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr17:16347377G>A ENST00000470794.1 - 4 587 c.560C>T c.(559-561)tCc>tTc p.S187F C17orf76-AS1_ENST00000581718.1_RNA|FAM211A_ENST00000409083.3_Silent_p.L148L|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA NM_001113567.2 NP_001107039.1 Q8NAA5 CQ076_HUMAN family with sequence similarity 211, member A 187 p.S187F(2)|p.L101L(1) lung(1) 1 CAGGTCTCGGGAGGTCAGTGG 0.622000 4 24 0 0 0.009096 0 0 SERPINB13 5275 broad.mit.edu 37 18 61262397 61262397 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr18:61262397C>T ENST00000344731.5 + 7 852 c.750C>T c.(748-750)aaC>aaT p.N250N SERPINB13_ENST00000269489.5_Intron NM_012397.3 NP_036529.1 Q9UIV8 SPB13_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 13 250 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity p.N250N(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 TTCTGCCCAACGACATCGATG 0.458000 10 226 0 0 0.020292 0 0 FUT9 10690 broad.mit.edu 37 6 96651063 96651063 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr6:96651063C>A ENST00000302103.5 + 3 358 c.32C>A c.(31-33)cCa>cAa p.P11Q NM_006581.3 NP_006572.2 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) fucosyltransferase) 11 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity p.P11Q(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) ATTCTTCGCCCATTTTTAATT 0.403000 9 151 1.12685e-05 1.35172e-05 0.004482 1 0 NPM1 4869 broad.mit.edu 37 5 170819801 170819801 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr5:170819801G>A ENST00000296930.5 + 5 741 c.440G>A c.(439-441)gGt>gAt p.G147D NPM1_ENST00000351986.6_Missense_Mutation_p.G147D|NPM1_ENST00000517671.1_Missense_Mutation_p.G147D|NPM1_ENST00000393820.2_Missense_Mutation_p.G147D NM_002520.6 NP_002511.1 P06748 NPM_HUMAN nucleophosmin (nucleolar phosphoprotein B23, numatrin) 147 Required for interaction with SENP3. anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding p.G147D(2) NPM1/ALK(632) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 4269 Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GCCCCTGGAGGTGGTAGCAAG 0.408000 """T, F """ """ALK, RARA, MLF1""" """NHL, APL, AML""" 18 264 0 0 0.018920 0 0 HTR2C 3358 broad.mit.edu 37 X 114141546 114141546 + Silent SNP T T A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:114141546T>A ENST00000276198.1 + 6 1673 c.945T>A c.(943-945)atT>atA p.I315I HTR2C_ENST00000371951.1_Silent_p.I315I|HTR2C_ENST00000371950.3_3'UTR NM_000868.2 NP_000859.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 315 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity p.I315I(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) TCCTTGGGATTGTTTTCTTTG 0.433000 10 298 0 0 0.006214 0 0 SIX3 6496 broad.mit.edu 37 2 45169954 45169954 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr2:45169954C>T ENST00000260653.3 + 1 1053 c.711C>T c.(709-711)cgC>cgT p.R237R NM_005413.3 NP_005404.1 O95343 SIX3_HUMAN SIX homeobox 3 237 visual perception nucleus p.R237R(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1) 11 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) GCAAGAAACGCGAACTGGCGC 0.642000 6 61 0 0 0.001984 0 0 STARD8 9754 broad.mit.edu 37 X 67941413 67941413 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:67941413G>T ENST00000252336.6 + 9 2416 c.2044G>T c.(2044-2046)Gcc>Tcc p.A682S STARD8_ENST00000374597.3_Missense_Mutation_p.A682S|STARD8_ENST00000374599.3_Missense_Mutation_p.A762S NM_014725.4 NP_055540.2 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain containing 8 682 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity p.A682S(2)|p.A762S(1) NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 50 AGCAGCACAAGCCGCCACCTT 0.562000 19 88 3.51602e-12 5.45237e-12 0.008871 1 0 PKP2 5318 broad.mit.edu 37 12 33031935 33031935 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr12:33031935C>A ENST00000340811.4 - 2 363 c.255G>T c.(253-255)gaG>gaT p.E85D PKP2_ENST00000070846.6_Missense_Mutation_p.E85D NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 85 cell-cell adhesion desmosome|integral to membrane|nucleus binding p.E85D(1) NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) TGTAGACATACTCAGGAACAC 0.363000 17 130 7.45023e-12 1.13882e-11 0.010504 1 0 ZFHX4 79776 broad.mit.edu 37 8 77618316 77618316 + Nonsense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr8:77618316G>T ENST00000521891.2 + 2 2441 c.1993G>T c.(1993-1995)Gag>Tag p.E665* ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.E665*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.E665*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.E665* NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 665 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E665*(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CCATATGAAGGAGAAACACCC 0.498000 HNSCC(33;0.089) 10 66 0.00829132 0.00874922 0.008291 1 0 KCNG1 3755 broad.mit.edu 37 20 49626462 49626462 + Silent SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr20:49626462C>A ENST00000371571.4 - 2 699 c.414G>T c.(412-414)ctG>ctT p.L138L KCNG1_ENST00000396017.3_Silent_p.L138L|RP5-955M13.4_ENST00000424566.1_RNA NM_002237.3 NP_002228.2 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, member 1 138 voltage-gated potassium channel complex voltage-gated potassium channel activity p.L138L(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 TCTCGCGCAGCAGCCGCAGCT 0.657000 9 53 1.08611e-07 1.40355e-07 0.010729 1 0 CYP27A1 1593 broad.mit.edu 37 2 219679287 219679287 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr2:219679287A>T ENST00000258415.4 + 8 1710 c.1283A>T c.(1282-1284)cAc>cTc p.H428L NM_000784.3 NP_000775.1 Q02318 CP27A_HUMAN cytochrome P450, family 27, subfamily A, polypeptide 1 428 bile acid biosynthetic process|xenobiotic metabolic process mitochondrial matrix cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding p.H428L(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1) 26 Renal(207;0.0474) Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981) Cholecalciferol(DB00169) GTGTTCTGCCACTATGTGGTG 0.592000 29 140 0 0 0.006320 0 0 SLC23A1 9963 broad.mit.edu 37 5 138714949 138714949 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr5:138714949G>A ENST00000353963.3 - 9 1070 c.1032C>T c.(1030-1032)taC>taT p.Y344Y SLC23A1_ENST00000348729.3_Silent_p.Y340Y NM_152685.3 NP_689898.2 Q9UHI7 S23A1_HUMAN solute carrier family 23 (ascorbic acid transporter), member 1 340 brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity p.Y344Y(1) biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1) 19 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) Vitamin C(DB00126) GGGCACAGGCGTAGTAATCTC 0.617000 26 115 0 0 0.006320 0 0 FAT1 2195 broad.mit.edu 37 4 187538323 187538323 + Missense_Mutation SNP T T C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr4:187538323T>C ENST00000441802.2 - 11 9120 c.8911A>G c.(8911-8913)Act>Gct p.T2971A NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2971 Cadherin 27. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding p.T2974A(1)|p.T2971A(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TTCTGTATAGTTTCAACGGCA 0.358000 HNSCC(5;0.00058) 16 65 0 0 0.004990 0 0 FAT3 120114 broad.mit.edu 37 11 92533884 92533884 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr11:92533884A>T ENST00000298047.6 + 9 7722 c.7705A>T c.(7705-7707)Agt>Tgt p.S2569C FAT3_ENST00000409404.2_Missense_Mutation_p.S2569C|FAT3_ENST00000525166.1_Missense_Mutation_p.S2419C Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2569 Cadherin 23. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.S2569C(2) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGGGGATGTTAGTATTTTTGT 0.473000 TCGA Ovarian(4;0.039) 10 50 0 0 0.008291 0 0 USP24 23358 broad.mit.edu 37 1 55566576 55566576 + Missense_Mutation SNP T T A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:55566576T>A ENST00000294383.6 - 44 5206 c.5207A>T c.(5206-5208)cAg>cTg p.Q1736L USP24_ENST00000407756.1_Missense_Mutation_p.Q1576L NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 1736 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity p.Q1736L(1)|p.Q1653L(1) breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 AAAGAGAGACTGCACTTGGTA 0.363000 8 64 0 0 0.004482 0 0 CBLN2 147381 broad.mit.edu 37 18 70205992 70205992 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr18:70205992C>A ENST00000269503.4 - 4 1146 c.373G>T c.(373-375)Ggc>Tgc p.G125C CBLN2_ENST00000585159.1_Missense_Mutation_p.G125C|CBLN2_ENST00000581073.1_Missense_Mutation_p.G11C|CBLN2_ENST00000583651.1_5'UTR|CBLN2_ENST00000584764.1_Missense_Mutation_p.G9C NM_182511.3 NP_872317.1 Q8IUK8 CBLN2_HUMAN cerebellin 2 precursor 125 C1q. integral to membrane p.G125F(1) endometrium(2)|lung(15) 17 Esophageal squamous(42;0.131) AAGTGGTTGCCAATATTTACT 0.418000 14 99 7.93312e-07 9.96296e-07 0.020292 1 0 ARHGAP36 158763 broad.mit.edu 37 X 130220349 130220349 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:130220349C>T ENST00000276211.5 + 10 1673 c.1328C>T c.(1327-1329)tCc>tTc p.S443F ARHGAP36_ENST00000370921.1_Missense_Mutation_p.S307F|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.S431F NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 443 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.S443F(1) breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 GTGTGGAAGTCCAGCCCGGAA 0.463000 11 106 0 0 0.010729 0 0 SI 6476 broad.mit.edu 37 3 164710138 164710138 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr3:164710138C>A ENST00000264382.3 - 42 4951 c.4889G>T c.(4888-4890)tGg>tTg p.W1630L NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1630 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity p.W1630L(1) NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TGCTGGACCCCATAAGAACTG 0.323000 HNSCC(35;0.089) 4 28 0.000602214 0.000667049 0.014758 1 0 SVEP1 79987 broad.mit.edu 37 9 113148345 113148345 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr9:113148345C>A ENST00000401783.2 - 43 10406 c.10070G>T c.(10069-10071)tGc>tTc p.C3357F SVEP1_ENST00000374469.1_Missense_Mutation_p.C3334F|SVEP1_ENST00000297826.5_Missense_Mutation_p.C1283F NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 3357 Sushi 33. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding p.C3360F(1) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 AGGAACAGGGCATGGATTTGC 0.388000 22 84 1.10923e-09 1.5414e-09 0.016522 1 0 BIN2 51411 broad.mit.edu 37 12 51685619 51685619 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr12:51685619G>T ENST00000267012.4 - 10 1332 c.1271C>A c.(1270-1272)gCa>gAa p.A424E BIN2_ENST00000452142.2_Missense_Mutation_p.A392E|BIN2_ENST00000604560.1_Missense_Mutation_p.A397E|BIN2_ENST00000544402.1_Missense_Mutation_p.A398E NM_016293.2 NP_057377.2 Q9UBW5 BIN2_HUMAN bridging integrator 2 424 Pro-rich. cytoplasm protein binding p.A424E(1) NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 CCTGGGGCTTGCAGTGGCTCT 0.617000 5 111 0.0215528 0.0223464 0.021553 1 0 SF3B2 10992 broad.mit.edu 37 11 65829421 65829421 + Silent SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr11:65829421A>T ENST00000528302.1 + 15 1932 c.1878A>T c.(1876-1878)ccA>ccT p.P626P SF3B2_ENST00000322535.6_Silent_p.P643P Q13435 SF3B2_HUMAN splicing factor 3b, subunit 2, 145kDa 643 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding p.P643P(1) breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 GACCACCCCCATCGTATCCCA 0.517000 4 38 0 0 0.009096 0 0 IGSF1 3547 broad.mit.edu 37 X 130407900 130407900 + Nonsense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:130407900G>T ENST00000370904.1 - 26 4764 c.3854C>A c.(3853-3855)tCa>tAa p.S1285* IGSF1_ENST00000370910.1_Nonsense_Mutation_p.S1285*|IGSF1_ENST00000361420.3_Nonsense_Mutation_p.S1294*|IGSF1_ENST00000370903.3_Nonsense_Mutation_p.S1299* Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 1294 regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding p.S1294*(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 GTCTGTCTCTGAGCCTCTATG 0.478000 41 388 1.62957e-23 2.93542e-23 0.008740 1 0 CAT 847 broad.mit.edu 37 11 34478335 34478335 + Missense_Mutation SNP A A G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr11:34478335A>G ENST00000241052.4 + 8 1116 c.1027A>G c.(1027-1029)Att>Gtt p.I343V NM_001752.3 NP_001743.1 P04040 CATA_HUMAN catalase 343 hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection peroxisomal matrix|peroxisomal membrane catalase activity|heme binding|NADP binding|protein homodimerization activity p.I343V(1) breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3) 26 Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027) BRCA - Breast invasive adenocarcinoma(625;0.000995) Fomepizole(DB01213) GCCACCTGGCATTGAGGCCAG 0.478000 12 75 0 0 0.010729 0 0 CLSTN1 22883 broad.mit.edu 37 1 9801204 9801204 + Silent SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:9801204C>A ENST00000377298.4 - 10 2259 c.1467G>T c.(1465-1467)ccG>ccT p.P489P CLSTN1_ENST00000377288.3_Silent_p.P489P|CLSTN1_ENST00000361311.4_Silent_p.P479P NM_001009566.1 NP_001009566.1 O94985 CSTN1_HUMAN calsyntenin 1 489 homophilic cell adhesion cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane calcium ion binding p.P489P(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 all_lung(157;0.222) all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) ATGGATGGAGCGGGTAATCCT 0.537000 26 124 3.1745e-13 5.02472e-13 0.008361 1 0 DACT1 51339 broad.mit.edu 37 14 59112403 59112403 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr14:59112403G>T ENST00000395153.3 + 4 1098 c.951G>T c.(949-951)agG>agT p.R317S DACT1_ENST00000541264.2_Missense_Mutation_p.R73S|DACT1_ENST00000395151.3_Missense_Mutation_p.R73S|DACT1_ENST00000335867.4_Missense_Mutation_p.R354S|DACT1_ENST00000556859.1_Missense_Mutation_p.R73S NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 354 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus p.R354S(1) endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 ACCCTGTAAGGACCAACAAAC 0.552000 14 67 0.00244969 0.00264765 0.020292 1 0 KIAA1755 85449 broad.mit.edu 37 20 36869629 36869629 + Missense_Mutation SNP A A C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr20:36869629A>C ENST00000279024.4 - 3 1175 c.904T>G c.(904-906)Tct>Gct p.S302A NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 302 p.S302A(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) AGTGCCCCAGAAGTACACCCA 0.522000 20 337 0 0 0.008871 0 0 SYTL4 94121 broad.mit.edu 37 X 99943410 99943410 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:99943410G>T ENST00000372981.1 - 10 1129 c.943C>A c.(943-945)Cac>Aac p.H315N SYTL4_ENST00000455616.1_Missense_Mutation_p.H315N|SYTL4_ENST00000454200.2_Missense_Mutation_p.H317N|SYTL4_ENST00000263033.5_Missense_Mutation_p.H315N|SYTL4_ENST00000372989.1_Missense_Mutation_p.H315N|SYTL4_ENST00000276141.6_Missense_Mutation_p.H315N Q96C24 SYTL4_HUMAN synaptotagmin-like 4 315 exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding p.H315N(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TTCACTAGGTGGTCAATGtct 0.388000 11 87 3.07112e-06 3.75125e-06 0.010729 1 0 FAM27L 284123 broad.mit.edu 37 17 21826233 21826233 + RNA SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr17:21826233G>A ENST00000426869.3 + 0 416 NR_028336.1 family with sequence similarity 27-like p.R71Q(1)|p.R71L(1) central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463) GCCACACCACGATACAGTCTT 0.542000 10 55 0 0 0.010729 0 0 IFIH1 64135 broad.mit.edu 37 2 163133444 163133444 + Missense_Mutation SNP A A G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr2:163133444A>G ENST00000263642.2 - 11 2452 c.2057T>C c.(2056-2058)aTg>aCg p.M686T NM_022168.3 NP_071451.2 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 686 detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding p.M686T(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 39 CCTTTTCAACATTTTATTGTT 0.318000 17 98 0 0 0.004990 0 0 FLG2 388698 broad.mit.edu 37 1 152331316 152331316 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:152331316G>C ENST00000388718.5 - 2 117 c.45C>G c.(43-45)ttC>ttG p.F15L FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 15 EF-hand 1.|S-100-like (By similarity). calcium ion binding|structural molecule activity p.F15L(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTATTTGTAGAAAACATCAA 0.423000 20 147 0 0 0.008871 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68249881 68249881 + Missense_Mutation SNP T T A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr14:68249881T>A ENST00000347230.4 - 21 4126 c.3988A>T c.(3988-3990)Agc>Tgc p.S1330C ZFYVE26_ENST00000555452.1_Missense_Mutation_p.S1330C NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1330 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding p.S1330C(1) NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) CTGGGTTTGCTGACCTTTAAC 0.597000 18 192 0 0 0.012319 0 0 KCTD8 386617 broad.mit.edu 37 4 44177010 44177010 + Missense_Mutation SNP G G A rs143160739 TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr4:44177010G>A ENST00000360029.3 - 2 1502 c.1219C>T c.(1219-1221)Cgc>Tgc p.R407C NM_198353.2 NP_938167.1 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerization domain containing 8 407 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity p.R407S(1)|p.R407C(1) central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4) 41 CTGTTTCTGCGTTTGTCTGGT 0.463000 HNSCC(17;0.042) 46 276 0 0 0.014410 0 0 ZNF626 199777 broad.mit.edu 37 19 20808148 20808148 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr19:20808148C>A ENST00000601440.1 - 4 681 c.535G>T c.(535-537)Ggc>Tgc p.G179C CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 179 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G179C(1) breast(1)|endometrium(1)|lung(3)|skin(1) 6 AAAGCTTTGCCACATTCTATA 0.348000 11 70 1.58986e-06 1.96893e-06 0.008291 1 0 MAGEB18 286514 broad.mit.edu 37 X 26157899 26157899 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:26157899G>C ENST00000325250.1 + 2 984 c.797G>C c.(796-798)cGc>cCc p.R266P NM_173699.3 NP_775970.1 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 266 MAGE. protein binding p.R266P(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2) 33 GATCCTCCACGCTATGAATTC 0.498000 6 34 0 0 0.001984 0 0 PIK3R4 30849 broad.mit.edu 37 3 130463491 130463491 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr3:130463491C>A ENST00000356763.3 - 2 1129 c.572G>T c.(571-573)cGg>cTg p.R191L NM_014602.2 NP_055417.1 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 191 Protein kinase. fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity p.R191L(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 77 AGTTCTCCTCCGTGATGTGTC 0.413000 11 86 3.07112e-06 3.75125e-06 0.010729 1 0 EPN1 29924 broad.mit.edu 37 19 56203235 56203235 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr19:56203235C>G ENST00000411543.2 + 7 1683 c.1136C>G c.(1135-1137)tCg>tGg p.S379W EPN1_ENST00000270460.6_Missense_Mutation_p.S293W|EPN1_ENST00000085079.7_Missense_Mutation_p.S268W NM_001130071.1 NP_001123543.1 Q9Y6I3 EPN1_HUMAN epsin 1 293 8 X 3 AA repeats of [ED]-P-W.|Ala/Gly/Pro-rich. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding p.S379W(1)|p.S293W(1) endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 17 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) GCCCCCACCTCGGACCCCTGG 0.751000 4 59 0 0 0.021553 0 0 PRR23B 389151 broad.mit.edu 37 3 138738865 138738865 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr3:138738865G>T ENST00000329447.5 - 1 903 c.639C>A c.(637-639)ccC>ccA p.P213P MRPS22_ENST00000495075.1_Intron NM_001013650.2 NP_001013672.1 Q6ZRT6 PR23B_HUMAN proline rich 23B 213 Pro-rich. p.P213P(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GGTCAAAGATGGGGCGTGGAG 0.627000 4 84 0.00024832 0.000280869 0.009096 1 0 AMER2 219287 broad.mit.edu 37 13 25744119 25744119 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr13:25744119G>T ENST00000357816.2 - 3 1757 c.1282C>A c.(1282-1284)Cgg>Agg p.R428R AMER2_ENST00000381853.3_Silent_p.R428R|AMER2_ENST00000515384.1_Silent_p.R547R APC membrane recruitment protein 2 p.R428R(1)|p.R547R(1) TAGCTATCCCGGGGGATGCCC 0.642000 14 94 4.36969e-10 6.15206e-10 0.016723 1 0 PLEKHA7 144100 broad.mit.edu 37 11 16872832 16872832 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr11:16872832C>A ENST00000355661.3 - 8 612 c.602G>T c.(601-603)cGa>cTa p.R201L PLEKHA7_ENST00000531066.1_Missense_Mutation_p.R201L|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.R201L|PLEKHA7_ENST00000532079.1_Intron Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 201 PH. epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding p.R201L(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 CGCTTCTTCTCGGCTGTCTTT 0.522000 18 94 9.16793e-09 1.24805e-08 0.004990 1 0 PRRC2A 7916 broad.mit.edu 37 6 31597577 31597577 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr6:31597577G>T ENST00000376033.2 + 14 2443 c.2209G>T c.(2209-2211)Ggt>Tgt p.G737C PRRC2A_ENST00000376007.4_Missense_Mutation_p.G737C NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 737 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding p.G737C(1) breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 GCTCCTCCAGGGTCGTCCCCC 0.592000 16 99 4.7546e-09 6.50566e-09 0.028581 1 0 ASTN1 460 broad.mit.edu 37 1 177001817 177001817 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:177001817G>T ENST00000367654.2 - 3 653 c.640C>A c.(640-642)Cgg>Agg p.R214R ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.R214R|ASTN1_ENST00000361833.2_Silent_p.R214R|ASTN1_ENST00000367657.3_Silent_p.R214R O14525 ASTN1_HUMAN astrotactin 1 214 cell migration|neuron cell-cell adhesion integral to membrane p.R214R(1) NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 AGGCTCTCCCGTCCGTGCCCG 0.622000 5 38 0.000157383 0.00017839 0.003080 1 0 DUSP22 56940 broad.mit.edu 37 6 348228 348228 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr6:348228G>A ENST00000604971.1 + 3 1193 c.80G>A c.(79-81)gGc>gAc p.G27D DUSP22_ENST00000605035.1_Missense_Mutation_p.G27D|DUSP22_ENST00000344450.5_Missense_Mutation_p.G130D|DUSP22_ENST00000605863.1_Missense_Mutation_p.G27D|DUSP22_ENST00000605315.1_Missense_Mutation_p.G27D|DUSP22_ENST00000603453.1_Missense_Mutation_p.G27D|DUSP22_ENST00000419235.2_Missense_Mutation_p.G130D Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 130 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 p.G130D(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2) 26 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) CCCAACGTGGGCTTCCAGAGA 0.572000 12 240 0 0 0.020292 0 0 FCRL2 79368 broad.mit.edu 37 1 157739662 157739662 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:157739662C>A ENST00000361516.3 - 4 637 c.589G>T c.(589-591)Gtg>Ttg p.V197L FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Missense_Mutation_p.V197L NM_030764.3 NP_110391.2 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 197 cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity p.V197L(1) central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2) 51 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TTGCTCTGCACGTGAATCTGG 0.473000 12 137 4.14922e-12 6.4157e-12 0.028581 1 0 POLR1B 84172 broad.mit.edu 37 2 113299993 113299993 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr2:113299993G>T ENST00000541869.1 + 2 152 c.36G>T c.(34-36)cgG>cgT p.R12R POLR1B_ENST00000409894.3_5'UTR|POLR1B_ENST00000263331.5_5'UTR Q9H9Y6 RPA2_HUMAN polymerase (RNA) I polypeptide B, 128kDa 0 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 CGGGACTGCGGCCACTACTTC 0.642000 11 52 3.86212e-05 4.46271e-05 0.008291 1 0 AFF2 2334 broad.mit.edu 37 X 148037249 148037249 + Silent SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:148037249G>C ENST00000370460.2 + 11 2153 c.1674G>C c.(1672-1674)ctG>ctC p.L558L AFF2_ENST00000342251.3_Silent_p.L525L|AFF2_ENST00000286437.5_Silent_p.L199L|AFF2_ENST00000370457.5_Silent_p.L525L NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 558 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding p.L558L(4)|p.L199L(2) breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) CTATTTCTCTGCCTCCTCCAA 0.458000 103 520 0 0 0.014410 0 0 GRM4 2914 broad.mit.edu 37 6 33995926 33995926 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr6:33995926G>T ENST00000374181.3 - 9 2829 c.2660C>A c.(2659-2661)tCt>tAt p.S887Y GRM4_ENST00000538487.1_Missense_Mutation_p.S887Y|GRM4_ENST00000544773.1_Missense_Mutation_p.S718Y|GRM4_ENST00000455714.2_Missense_Mutation_p.S747Y|GRM4_ENST00000545715.1_Missense_Mutation_p.S579Y|GRM4_ENST00000374177.3_Missense_Mutation_p.S771Y|GRM4_ENST00000535756.1_Missense_Mutation_p.S754Y NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 887 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.S887Y(2)|p.S771Y(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) GCAGAGCTCAGACTTGGCCTC 0.652000 11 56 1.08611e-07 1.40355e-07 0.010729 1 0 CLCNKA 1187 broad.mit.edu 37 1 16355272 16355272 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:16355272G>A ENST00000375692.1 + 12 1113 c.985G>A c.(985-987)Gct>Act p.A329T CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000331433.4_Missense_Mutation_p.A329T|CLCNKA_ENST00000420078.1_Missense_Mutation_p.A329T|CLCNKA_ENST00000439316.2_Missense_Mutation_p.A286T P51800 CLCKA_HUMAN chloride channel, voltage-sensitive Ka 329 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity p.A329T(1) breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) TGTGTACTCCGCTCTGGCCAC 0.642000 8 206 0 0 0.004482 0 0 DDX60 55601 broad.mit.edu 37 4 169201524 169201524 + Missense_Mutation SNP C C A rs137933604 TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr4:169201524C>A ENST00000393743.3 - 14 2231 c.1940G>T c.(1939-1941)tGc>tTc p.C647F NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 647 ATP binding|ATP-dependent helicase activity|RNA binding p.C647F(2) breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) GGCTTTCAAGCAAGCAGTTAA 0.358000 18 164 1.45105e-14 2.35246e-14 0.006122 1 0 ASB15 142685 broad.mit.edu 37 7 123254559 123254559 + Translation_Start_Site SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr7:123254559G>T ENST00000451558.1 + 6 524 c.3G>T c.(1-3)atG>atT p.M1I ASB15_ENST00000434204.1_Start_Codon_SNP_p.M1I|ASB15_ENST00000275699.3_Start_Codon_SNP_p.M1I|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000540573.1_Start_Codon_SNP_p.M1I|RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000451215.1_Start_Codon_SNP_p.M1I Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box containing 15 1 intracellular signal transduction p.M1I(2) breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 ATGCAGGAATGGATACTAATG 0.348000 41 199 3.43241e-23 6.16222e-23 0.009718 1 0 CD96 10225 broad.mit.edu 37 3 111343207 111343207 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr3:111343207G>T ENST00000352690.4 + 10 1517 c.1277G>T c.(1276-1278)gGc>gTc p.G426V CD96_ENST00000283285.5_Missense_Mutation_p.G442V NM_005816.4 NP_005807.1 P40200 TACT_HUMAN CD96 molecule 442 Pro/Ser/Thr-rich. cell adhesion|immune response|regulation of immune response integral to plasma membrane p.G442V(1) central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5) 35 ACTACCCGAGGCTTCAACTAT 0.418000 Opitz Trigonocephaly syndrome 41 153 1.30916e-28 2.39864e-28 0.014410 1 0 LSP1 4046 broad.mit.edu 37 11 1908758 1908758 + Nonsense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr11:1908758G>T ENST00000406638.2 + 10 2101 c.799G>T c.(799-801)Gag>Tag p.E267* LSP1_ENST00000311604.3_Nonsense_Mutation_p.E329*|LSP1_ENST00000405957.2_Nonsense_Mutation_p.E267*|LSP1_ENST00000381775.1_Nonsense_Mutation_p.E457*|LSP1_ENST00000485341.1_3'UTR NM_001013254.1|NM_001013255.1 NP_001013272.1|NP_001013273.1 P33241 LSP1_HUMAN lymphocyte-specific protein 1 329 cellular component movement|cellular defense response actin cytoskeleton|Golgi apparatus|plasma membrane actin binding|signal transducer activity p.E329*(1)|p.E267*(1) haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856) TGGGAAGTATGAGAAGGTGCT 0.577000 13 80 0.00244969 0.00264765 0.020292 1 0 SCN10A 6336 broad.mit.edu 37 3 38764936 38764936 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr3:38764936C>A ENST00000449082.2 - 18 3336 c.3337G>T c.(3337-3339)Gac>Tac p.D1113Y NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1113 sensory perception voltage-gated sodium channel complex p.D1113Y(1) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 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) GTGAAGCAGTCATCTGGTTCT 0.552000 11 89 2.27111e-07 2.91377e-07 0.013537 1 0 SYNE2 23224 broad.mit.edu 37 14 64591827 64591827 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr14:64591827G>T ENST00000357395.3 + 72 13752 c.2608G>T c.(2608-2610)Gtg>Ttg p.V870L SYNE2_ENST00000555002.1_Missense_Mutation_p.V1119L|SYNE2_ENST00000554584.1_Intron|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.V870L|SYNE2_ENST00000358025.3_Missense_Mutation_p.V4485L|SYNE2_ENST00000344113.4_Missense_Mutation_p.V4485L Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4485 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 p.V4485L(1) NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TCTACCCAGCGTGACTATGTA 0.373000 13 83 4.3838e-07 5.57086e-07 0.016723 1 0 DCLK3 85443 broad.mit.edu 37 3 36779841 36779841 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr3:36779841G>T ENST00000416516.2 - 2 800 c.310C>A c.(310-312)Ccc>Acc p.P104T NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 104 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity p.P104T(1) breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 TTGCTACTGGGTTCTGGCTCC 0.577000 21 222 1.01871e-10 1.46903e-10 0.008871 1 0 BRPF3 27154 broad.mit.edu 37 6 36198206 36198206 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr6:36198206G>T ENST00000357641.6 + 13 3691 c.3438G>T c.(3436-3438)caG>caT p.Q1146H BRPF3_ENST00000534694.1_Missense_Mutation_p.Q812H|BRPF3_ENST00000534400.1_3'UTR|BRPF3_ENST00000443324.2_Missense_Mutation_p.Q812H|BRPF3_ENST00000339717.7_Missense_Mutation_p.Q876H|BRPF3_ENST00000543502.1_Missense_Mutation_p.Q876H NM_015695.2 NP_056510.2 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 1146 PWWP. histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding p.Q1146H(1) breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 ATTTCAGGCAGTGGCTTCCAA 0.607000 12 70 9.31168e-06 1.11949e-05 0.016723 1 0 PCDHB4 56131 broad.mit.edu 37 5 140503451 140503451 + Missense_Mutation SNP G G T rs149487286 TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr5:140503451G>T ENST00000194152.1 + 1 1871 c.1871G>T c.(1870-1872)cGc>cTc p.R624L NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 624 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding p.R624L(1) autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGCGAGGTGCGCACCGCCAGG 0.697000 21 103 1.96895e-08 2.64007e-08 0.016522 1 0 ZFHX4 79776 broad.mit.edu 37 8 77690535 77690535 + Missense_Mutation SNP T T A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr8:77690535T>A ENST00000521891.2 + 4 3633 c.3185T>A c.(3184-3186)cTg>cAg p.L1062Q ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L1036Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L1036Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L1036Q NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1036 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.L1062Q(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AAGTTGAATCTGGTACAACAT 0.532000 HNSCC(33;0.089) 25 157 0 0 0.006320 0 0 ASUN 55726 broad.mit.edu 37 12 27058465 27058465 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr12:27058465C>G ENST00000261191.7 - 17 2622 c.2086G>C c.(2086-2088)Gag>Cag p.E696Q ASUN_ENST00000539625.1_Missense_Mutation_p.E595Q NM_018164.2 NP_060634.2 Q9NVM9 M89BB_HUMAN asunder spermatogenesis regulator 696 cell division|mitosis|regulation of mitotic cell cycle protein binding p.E696Q(1) TCTGTTGTCTCCATCCTGAAA 0.299000 17 116 0 0 0.006122 0 0 DRD3 1814 broad.mit.edu 37 3 113858370 113858370 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr3:113858370C>A ENST00000383673.2 - 5 1130 c.700G>T c.(700-702)Gtc>Ttc p.V234F DRD3_ENST00000460779.1_Missense_Mutation_p.V234F|DRD3_ENST00000467632.1_Missense_Mutation_p.V234F|DRD3_ENST00000295881.7_Missense_Mutation_p.V234F NM_000796.3 NP_000787.2 P35462 DRD3_HUMAN dopamine receptor D3 234 activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding p.V234F(1) central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1) 36 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) CCAGGCCTGACACTGTTGCAC 0.527000 55 211 4.46115e-38 8.40393e-38 0.014410 1 0 ZNF638 27332 broad.mit.edu 37 2 71592757 71592757 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr2:71592757G>T ENST00000409544.1 + 6 2546 c.1916G>T c.(1915-1917)tGt>tTt p.C639F ZNF638_ENST00000355812.3_Missense_Mutation_p.C639F|ZNF638_ENST00000264447.4_Missense_Mutation_p.C639F|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Missense_Mutation_p.C639F NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 639 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding p.C639F(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 TCTATTCGTTGTAAATCAAAG 0.358000 16 52 3.45872e-05 4.0402e-05 0.028581 1 0 PDE1B 5153 broad.mit.edu 37 12 54943667 54943667 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr12:54943667C>A ENST00000243052.3 + 2 447 c.11C>A c.(10-12)tCc>tAc p.S4Y NM_000924.3 NP_000915.1 Q01064 PDE1B_HUMAN phosphodiesterase 1B, calmodulin-dependent 4 activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding p.S4Y(1) endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 ATGGAGCTGTCCCCCCGCAGT 0.627000 14 85 6.49762e-13 1.02242e-12 0.006122 1 0 HIRA 7290 broad.mit.edu 37 22 19365548 19365548 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr22:19365548C>A ENST00000263208.5 - 14 1713 c.1457G>T c.(1456-1458)gGc>gTc p.G486V HIRA_ENST00000541063.1_Missense_Mutation_p.G442V|HIRA_ENST00000340170.4_Missense_Mutation_p.G486V|HIRA_ENST00000546308.1_Missense_Mutation_p.G442V NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 486 Interaction with CCNA1. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity p.G486F(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) CGCCAGGGAGCCCGAGAGGGG 0.542000 20 237 3.51602e-12 5.45237e-12 0.008871 1 0 ITGAX 3687 broad.mit.edu 37 16 31384696 31384696 + Silent SNP C C T rs146985733 TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr16:31384696C>T ENST00000268296.4 + 20 2614 c.2493C>T c.(2491-2493)taC>taT p.Y831Y ITGAX_ENST00000562522.1_Silent_p.Y831Y NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 831 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity p.Y831Y(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 CCTACCGCTACGTGGCAGAGG 0.627000 19 82 0 0 0.016522 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30691010 30691010 + Missense_Mutation SNP T T A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr22:30691010T>A ENST00000215790.7 - 5 723 c.559A>T c.(559-561)Acg>Tcg p.T187S TBC1D10A_ENST00000403362.1_Missense_Mutation_p.T99S|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.T194S|RP1-130H16.18_ENST00000447976.1_Missense_Mutation_p.T61S NM_031937.2 NP_114143.1 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 187 Rab-GAP TBC. intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity p.T187S(1) cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 CGGTACAGCGTGTAGGCCTTC 0.647000 15 92 0 0 0.004990 0 0 SHROOM3 57619 broad.mit.edu 37 4 77680773 77680773 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr4:77680773G>A ENST00000296043.6 + 9 6227 c.5274G>A c.(5272-5274)gaG>gaA p.E1758E RP11-359D14.3_ENST00000449007.1_RNA NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 1758 ASD2. apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding p.E1757E(1) NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) CCAAGGCTGAGCTACTGAACA 0.453000 9 73 0 0 0.004482 0 0 HIST1H1B 3009 broad.mit.edu 37 6 27835222 27835222 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr6:27835222G>C ENST00000331442.3 - 1 137 c.86C>G c.(85-87)gCc>gGc p.A29G NM_005322.2 NP_005313.1 P16401 H15_HUMAN histone cluster 1, H1b 29 nucleosome assembly nucleosome|nucleus DNA binding p.A29G(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 GCCGGCGCCGGCAGCCTTCTT 0.612000 8 120 0 0 0.004482 0 0 MYO18B 84700 broad.mit.edu 37 22 26164338 26164338 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr22:26164338A>T ENST00000335473.7 + 4 705 c.455A>T c.(454-456)gAt>gTt p.D152V MYO18B_ENST00000407587.2_Missense_Mutation_p.D152V|MYO18B_ENST00000536101.1_Missense_Mutation_p.D152V NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 152 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity p.D152V(1) NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 AGGAGGGGTGATGTGTTGTTG 0.597000 9 44 0 0 0.004482 0 0 POLR3A 11128 broad.mit.edu 37 10 79781687 79781687 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr10:79781687C>A ENST00000372371.3 - 7 1116 c.979G>T c.(979-981)Ggc>Tgc p.G327C NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 327 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding p.G327C(1) breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) AGGGGAATGCCCGAGAGCTCA 0.537000 17 67 1.2644e-06 1.58421e-06 0.010504 1 0 FEZ1 9638 broad.mit.edu 37 11 125359482 125359482 + Silent SNP A A G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr11:125359482A>G ENST00000278919.3 - 2 426 c.192T>C c.(190-192)aaT>aaC p.N64N FEZ1_ENST00000524435.1_Silent_p.N64N|FEZ1_ENST00000366139.3_Silent_p.N64N NM_005103.4 NP_005094.1 Q99689 FEZ1_HUMAN fasciculation and elongation protein zeta 1 (zygin I) 64 axon guidance|cell adhesion|transport microtubule|plasma membrane p.N64N(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 24 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934) CATCAAATTCATTTACGAGGT 0.488000 22 115 0 0 0.014323 0 0 UAP1 6675 broad.mit.edu 37 1 162536099 162536099 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:162536099A>T ENST00000271469.3 + 2 543 c.241A>T c.(241-243)Aca>Tca p.T81S UAP1_ENST00000367926.4_Missense_Mutation_p.T81S|UAP1_ENST00000367925.1_Missense_Mutation_p.T81S|UAP1_ENST00000367924.1_Missense_Mutation_p.T81S Q16222 UAP1_HUMAN UDP-N-acteylglucosamine pyrophosphorylase 1 81 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol|nucleus|plasma membrane UDP-N-acetylglucosamine diphosphorylase activity p.T81S(1) breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1) 22 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) AGGCAGTGCTACAAGGGATCA 0.423000 8 45 0 0 0.006214 0 0 APOB 338 broad.mit.edu 37 2 21255419 21255419 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr2:21255419G>T ENST00000233242.1 - 10 1286 c.1159C>A c.(1159-1161)Cag>Aag p.Q387K APOB_ENST00000399256.4_Missense_Mutation_p.Q387K NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 387 Vitellogenin. 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 p.Q387T(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CACTGAGGCTGTCCACACTGA 0.507000 11 53 6.40141e-05 7.36506e-05 0.010729 1 0 SLC7A14 57709 broad.mit.edu 37 3 170219103 170219103 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr3:170219103G>A ENST00000231706.4 - 3 651 c.336C>T c.(334-336)gtC>gtT p.V112V CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 112 integral to membrane amino acid transmembrane transporter activity p.V112V(1) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) TGGTCTTGGGGACTCGAACTC 0.502000 6 43 0 0 0.021553 0 0 CNTN1 1272 broad.mit.edu 37 12 41337888 41337888 + Silent SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr12:41337888C>A ENST00000551295.2 + 14 1716 c.1599C>A c.(1597-1599)gcC>gcA p.A533A CNTN1_ENST00000547849.1_Silent_p.A533A|CNTN1_ENST00000347616.1_Silent_p.A533A|CNTN1_ENST00000547702.1_Silent_p.A533A|CNTN1_ENST00000360099.3_Silent_p.A533A|CNTN1_ENST00000348761.2_Silent_p.A522A NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 533 Ig-like C2-type 6. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane p.A533A(1) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TTGATCCTGCCTTGGATCTCA 0.393000 22 50 1.50039e-11 2.24848e-11 0.012319 1 0 XIST 7503 broad.mit.edu 37 X 73070884 73070884 + RNA SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:73070884A>T ENST00000429829.1 - 0 1704 NR_001564.2 GTCTTCGCTGAGTAGCTGGAC 0.502000 33 163 0 0 0.009535 0 0 ARID2 196528 broad.mit.edu 37 12 46245363 46245363 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr12:46245363G>T ENST00000334344.6 + 15 3629 c.3457G>T c.(3457-3459)Ggt>Tgt p.G1153C ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.G1004C|ARID2_ENST00000444670.1_Missense_Mutation_p.G763C NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1153 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.G1153C(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) AATATTGCCAGGTCCACTGAT 0.478000 """N, S, F""" hepatocellular carcinoma 24 136 2.79863e-10 4.00339e-10 0.024334 1 0 DAB1 1600 broad.mit.edu 37 1 57756646 57756646 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:57756646G>T ENST00000371236.2 - 2 320 c.57C>A c.(55-57)tcC>tcA p.S19S DAB1_ENST00000439789.2_Silent_p.S19S|DAB1_ENST00000371230.1_Silent_p.S19S|DAB1_ENST00000420954.2_Silent_p.S19S|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Silent_p.S19S|DAB1_ENST00000414851.2_Silent_p.S19S|DAB1_ENST00000371231.1_Silent_p.S19S O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 19 cell differentiation|nervous system development p.S19S(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 CTTTCTTTCTGGAGTCTTTCT 0.408000 23 109 1.22574e-08 1.66018e-08 0.014323 1 0 KMT2C 58508 broad.mit.edu 37 7 151960177 151960177 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr7:151960177G>A ENST00000355193.2 - 9 1441 c.1223C>T c.(1222-1224)aCg>aTg p.T408M KMT2C_ENST00000262189.6_Missense_Mutation_p.T408M lysine (K)-specific methyltransferase 2C p.T408M(2) TTTGTCACACGTATCACACAC 0.313000 25 112 0 0 0.018920 0 0 RYR2 6262 broad.mit.edu 37 1 237550607 237550607 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:237550607A>T ENST00000366574.2 + 9 920 c.603A>T c.(601-603)ttA>ttT p.L201F RYR2_ENST00000360064.6_Missense_Mutation_p.L199F|RYR2_ENST00000542537.1_Missense_Mutation_p.L185F NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 201 MIR 2. 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 p.L199F(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 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) ACGGCAGCTTACACGTGGATG 0.512000 5 52 0 0 0.001984 0 0 FLG 2312 broad.mit.edu 37 1 152277028 152277028 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:152277028C>T ENST00000368799.1 - 3 10369 c.10334G>A c.(10333-10335)aGg>aAg p.R3445K FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3445 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.R3445K(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGATCCCTGCCTTCCTCTTCT 0.612000 Ichthyosis 40 656 0 0 0.008740 0 0 ULK1 8408 broad.mit.edu 37 12 132399719 132399719 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr12:132399719G>T ENST00000321867.4 + 17 1816 c.1465G>T c.(1465-1467)Gtc>Ttc p.V489F NM_003565.2 NP_003556.1 O75385 ULK1_HUMAN unc-51 like autophagy activating kinase 1 489 autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity p.V489F(1) breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 29 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) GCATGGAGGCGTCCTGGCCAG 0.682000 8 15 0.000157383 0.00017839 0.003080 1 0 MUC17 140453 broad.mit.edu 37 7 100683336 100683336 + Missense_Mutation SNP C C A rs142042551 TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr7:100683336C>A ENST00000306151.4 + 3 8703 c.8639C>A c.(8638-8640)cCg>cAg p.P2880Q NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2880 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.P2880Q(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AGCACCACGCCGGTGGCCAGT 0.488000 87 235 9.24773e-40 1.76069e-39 0.014410 1 0 HHIPL2 79802 broad.mit.edu 37 1 222717000 222717000 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:222717000G>T ENST00000343410.6 - 2 911 c.853C>A c.(853-855)Cac>Aac p.H285N NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 285 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding p.H285N(1) NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) TTGCGATTGTGGCGGAATTTG 0.478000 40 324 1.04594e-18 1.79352e-18 0.025465 1 0 STK36 27148 broad.mit.edu 37 2 219553476 219553476 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr2:219553476G>T ENST00000295709.3 + 12 1716 c.1437G>T c.(1435-1437)ctG>ctT p.L479L STK36_ENST00000440309.1_Silent_p.L479L|STK36_ENST00000392106.2_Silent_p.L479L|STK36_ENST00000392105.3_Silent_p.L479L NM_015690.4 NP_056505.2 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 479 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding p.L479L(1) biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) TCCGGGTCCTGAGCAGTCTTC 0.547000 48 296 3.94638e-17 6.72392e-17 0.014410 1 0 SH3BP5L 80851 broad.mit.edu 37 1 249119037 249119037 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:249119037G>C ENST00000366472.5 - 2 1327 c.98C>G c.(97-99)gCa>gGa p.A33G SH3BP5L_ENST00000475978.1_5'UTR NM_030645.1 NP_085148.1 Q7L8J4 3BP5L_HUMAN SH3-binding domain protein 5-like 33 p.A33G(1) endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) AGGCTCTTCTGCGACTGGGCT 0.582000 8 355 0 0 0.004482 0 0 OOSP2 219990 broad.mit.edu 37 11 59807963 59807963 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr11:59807963G>C ENST00000278855.2 + 1 216 c.31G>C c.(31-33)Gtc>Ctc p.V11L PLAC1L_ENST00000532905.1_5'UTR NM_173801.3 NP_776162.2 Q86WS3 PLACL_HUMAN 11 extracellular region p.V11L(1) breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1) 15 GCTCCTCGCTGTCTTGATTTG 0.478000 18 139 0 0 0.012319 0 0 MDH1 4190 broad.mit.edu 37 2 63824683 63824683 + Missense_Mutation SNP A A G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr2:63824683A>G ENST00000233114.8 + 4 785 c.350A>G c.(349-351)gAt>gGt p.D117G MDH1_ENST00000394423.1_Missense_Mutation_p.D117G|MDH1_ENST00000544381.1_Missense_Mutation_p.D28G|MDH1_ENST00000539945.1_Missense_Mutation_p.D135G|MDH1_ENST00000409908.1_Intron|MDH1_ENST00000409476.1_Intron NM_005917.3 NP_005908.1 P40925 MDHC_HUMAN malate dehydrogenase 1, NAD (soluble) 117 gluconeogenesis|tricarboxylic acid cycle centrosome|cytosol L-malate dehydrogenase activity|malic enzyme activity p.D117G(1) endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4) 13 NADH(DB00157) GCAGCCTTAGATAAATACGCC 0.383000 3 41 0 0 0.004672 0 0 FKBP6 8468 broad.mit.edu 37 7 72756806 72756806 + Splice_Site SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr7:72756806G>C ENST00000252037.4 + 8 962 c.e8-1 FKBP6_ENST00000431982.2_Splice_Site|FKBP6_ENST00000413573.2_Splice_Site NM_003602.3 NP_003593.3 O75344 FKBP6_HUMAN FK506 binding protein 6, 36kDa protein folding membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity p.?(2) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 16 Lung NSC(55;0.0908)|all_lung(88;0.198) TCCCTCTCCAGCTGTTACAGG 0.478000 OREG0018106 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 298 0 0 0.028581 0 0 SOX1 6656 broad.mit.edu 37 13 112722333 112722333 + Silent SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr13:112722333C>A ENST00000330949.1 + 1 421 c.361C>A c.(361-363)Cgg>Agg p.R121R NM_005986.2 NP_005977.2 O00570 SOX1_HUMAN SRY (sex determining region Y)-box 1 121 chromatin organization nucleus core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.R121R(1) lung(4) 4 all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231) OV - Ovarian serous cystadenocarcinoma(48;0.132) TTACAAGTACCGGCCGCGCCG 0.697000 6 54 0.0215528 0.0223464 0.021553 1 0 PDZD2 23037 broad.mit.edu 37 5 32089086 32089086 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr5:32089086C>T ENST00000438447.1 + 20 5920 c.5532C>T c.(5530-5532)ggC>ggT p.G1844G PDZD2_ENST00000282493.3_Silent_p.G1844G O15018 PDZD2_HUMAN PDZ domain containing 2 1844 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus p.G1844G(1) NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 AAAAAAAGGGCGTTACTGTGC 0.478000 27 149 0 0 0.008361 0 0 ANKRD36BP1 84832 broad.mit.edu 37 1 168215927 168215927 + RNA SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:168215927G>T ENST00000358576.4 - 0 654 NR_026844.1 p.D119E(2) lung(1) 1 GCAACATTCAGTCTACGATGG 0.413000 4 52 0.00909568 0.00954155 0.009096 1 0 TFDP1 7027 broad.mit.edu 37 13 114287464 114287464 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr13:114287464G>A ENST00000375370.5 + 6 550 c.338G>A c.(337-339)gGc>gAc p.G113D TFDP1_ENST00000544902.1_Missense_Mutation_p.G18D|TFDP1_ENST00000538138.1_Missense_Mutation_p.G18D|TFDP1_ENST00000465174.1_3'UTR NM_007111.4 NP_009042.1 Q14186 TFDP1_HUMAN transcription factor Dp-1 113 cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding p.G113D(1) breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153) all cancers(43;0.0576) GAGAAGAATGGCAAGGGCCTA 0.517000 TSP Lung(29;0.18) 12 61 0 0 0.016723 0 0 HERC2 8924 broad.mit.edu 37 15 28389295 28389295 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr15:28389295G>A ENST00000261609.7 - 73 11335 c.11227C>T c.(11227-11229)Ctt>Ttt p.L3743F NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3743 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 p.L3743F(1) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 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) TTAGAGGCAAGGTTGAGTCGG 0.542000 11 163 0 0 0.016723 0 0 OR51M1 390059 broad.mit.edu 37 11 5411262 5411262 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr11:5411262C>T ENST00000328611.3 + 1 656 c.634C>T c.(634-636)Ctg>Ttg p.L212L HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron NM_001004756.2 NP_001004756.2 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, member 1 212 integral to membrane olfactory receptor activity p.L212L(1) NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTGTATGGACTGATGGTGGT 0.522000 23 86 0 0 0.012319 0 0 HIRA 7290 broad.mit.edu 37 22 19365549 19365549 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr22:19365549C>A ENST00000263208.5 - 14 1712 c.1456G>T c.(1456-1458)Ggc>Tgc p.G486C HIRA_ENST00000541063.1_Missense_Mutation_p.G442C|HIRA_ENST00000340170.4_Missense_Mutation_p.G486C|HIRA_ENST00000546308.1_Missense_Mutation_p.G442C NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 486 Interaction with CCNA1. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity p.G486F(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) GCCAGGGAGCCCGAGAGGGGG 0.542000 20 237 3.51602e-12 5.45237e-12 0.008871 1 0 ARAF 369 broad.mit.edu 37 X 47426121 47426121 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:47426121C>T ENST00000377045.4 + 7 835 c.641C>T c.(640-642)tCc>tTc p.S214F ARAF_ENST00000290277.6_Intron NM_001256196.1|NM_001654.4 NP_001243125.1|NP_001645.1 P10398 ARAF_HUMAN v-raf murine sarcoma 3611 viral oncogene homolog 214 intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity p.S214F(1) biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 29 Adenosine triphosphate(DB00171) CGCTCCACGTCCACTCCCAAC 0.662000 15 36 0 0 0.028581 0 0 RASGRF1 5923 broad.mit.edu 37 15 79298770 79298770 + Silent SNP G G A rs141856364 byFrequency TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr15:79298770G>A ENST00000419573.3 - 15 2146 c.1872C>T c.(1870-1872)gaC>gaT p.D624D RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.D611D NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 624 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity p.D624D(1) breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 ATAAGGAGGCGTCGGACCTGA 0.552000 5 74 0 0 0.021553 0 0 PDCD2 5134 broad.mit.edu 37 6 170887973 170887973 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr6:170887973C>G ENST00000541970.1 - 5 926 c.848G>C c.(847-849)tGt>tCt p.C283S PDCD2_ENST00000392090.2_Missense_Mutation_p.C250S|PDCD2_ENST00000542896.1_Missense_Mutation_p.C283S NM_001199462.1|NM_002598.3 NP_001186391.1|NP_002589.2 Q16342 PDCD2_HUMAN programmed cell death 2 283 apoptosis cytoplasm|nucleus DNA binding|protein binding|zinc ion binding p.C283S(1) breast(1)|endometrium(2)|large_intestine(1)|lung(5) 9 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142) CTTGGCACCACAGGGGCAATC 0.363000 6 108 0 0 0.003080 0 0 SLC12A9 56996 broad.mit.edu 37 7 100454719 100454719 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr7:100454719C>T ENST00000354161.3 + 5 803 c.678C>T c.(676-678)ggC>ggT p.G226G SLC12A9_ENST00000415287.1_Silent_p.G137G|SLC12A9_ENST00000540482.1_Silent_p.G226G|SLC12A9_ENST00000275729.3_Silent_p.G137G|SLC12A9_ENST00000428758.1_Silent_p.G226G NM_020246.3 NP_064631.2 Q9BXP2 S12A9_HUMAN solute carrier family 12, member 9 226 integral to membrane|plasma membrane cation:chloride symporter activity p.G226G(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 41 Lung NSC(181;0.041)|all_lung(186;0.0581) CTAGGCCTGGCCCCAATGGCT 0.627000 7 150 0 0 0.003080 0 0 PFKL 5211 broad.mit.edu 37 21 45730918 45730918 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr21:45730918G>A ENST00000403390.1 + 4 330 c.330G>A c.(328-330)gaG>gaA p.E110E PFKL_ENST00000349048.4_Silent_p.E63E|PFKL_ENST00000496824.1_3'UTR P17858 K6PL_HUMAN phosphofructokinase, liver 63 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding p.E110E(1) cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Colorectal(79;0.0811) AGGGAGGTGAGAACATCAAGC 0.602000 12 92 0 0 0.010729 0 0 KCNG1 3755 broad.mit.edu 37 20 49626477 49626477 + Silent SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr20:49626477C>A ENST00000371571.4 - 2 684 c.399G>T c.(397-399)gcG>gcT p.A133A KCNG1_ENST00000396017.3_Silent_p.A133A|RP5-955M13.4_ENST00000424566.1_RNA NM_002237.3 NP_002228.2 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, member 1 133 voltage-gated potassium channel complex voltage-gated potassium channel activity p.A133A(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GCAGCTTGCCCGCGCGCAGGA 0.642000 8 60 1.58986e-06 1.96893e-06 0.008291 1 0 WDR13 64743 broad.mit.edu 37 X 48457296 48457296 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:48457296A>T ENST00000218056.5 + 2 738 c.233A>T c.(232-234)tAt>tTt p.Y78F WDR13_ENST00000492715.1_3'UTR NM_001166426.1|NM_017883.4 NP_001159898.1|NP_060353.2 Q9H1Z4 WDR13_HUMAN WD repeat domain 13 78 cytoplasm|nucleus p.Y78F(2) endometrium(1)|large_intestine(4)|lung(4)|ovary(2) 11 GCTCGTGCCTATAGCAACAGC 0.662000 11 34 0 0 0.008291 0 0 MUC17 140453 broad.mit.edu 37 7 100680395 100680395 + Missense_Mutation SNP A A C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr7:100680395A>C ENST00000306151.4 + 3 5762 c.5698A>C c.(5698-5700)Act>Cct p.T1900P NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1900 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.T1900P(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACCTGTGACCACTTATGCTCA 0.493000 61 443 0 0 0.014410 0 0 XIRP2 129446 broad.mit.edu 37 2 168106328 168106328 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr2:168106328G>T ENST00000409195.1 + 9 8515 c.8426G>T c.(8425-8427)gGa>gTa p.G2809V XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G2587V|XIRP2_ENST00000295237.9_Missense_Mutation_p.G2809V|XIRP2_ENST00000409043.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2634 actin cytoskeleton organization cell junction actin binding p.G2809V(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GAATTTAGCGGATCTGACAGA 0.398000 24 96 3.6726e-16 6.15938e-16 0.021523 1 0 SCFD2 152579 broad.mit.edu 37 4 54232058 54232058 + Silent SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr4:54232058C>A ENST00000401642.3 - 1 184 c.51G>T c.(49-51)gtG>gtT p.V17V SCFD2_ENST00000388940.4_Silent_p.V17V NM_152540.3 NP_689753.2 Q8WU76 SCFD2_HUMAN sec1 family domain containing 2 17 protein transport|vesicle docking involved in exocytosis p.V17V(1) breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134) CTTTGGCCAGCACCTGCTCCC 0.627000 16 75 3.45872e-05 4.0402e-05 0.028581 1 0 TERT 7015 broad.mit.edu 37 5 1264701 1264701 + Silent SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr5:1264701C>A ENST00000310581.5 - 11 2718 c.2661G>T c.(2659-2661)ctG>ctT p.L887L TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Intron NM_001193376.1|NM_198253.2 NP_001180305.1|NP_937983.2 O14746 TERT_HUMAN telomerase reverse transcriptase 887 Reverse transcriptase. 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 p.L875L(1)|p.L887L(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 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) CACCTCGGACCAGGGTCCTAA 0.582000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 20 135 1.10923e-09 1.5414e-09 0.016522 1 0 ZNF728 388523 broad.mit.edu 37 19 23159498 23159498 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr19:23159498G>A ENST00000594710.1 - 4 786 c.641C>T c.(640-642)tCa>tTa p.S214L NM_001267716.1 NP_001254645.1 zinc finger protein 728 AGTAAGGGCTGAGGACCAGTT 0.368000 11 38 0 0 0.008291 0 0 MTERFD1 51001 broad.mit.edu 37 8 97256256 97256256 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr8:97256256G>T ENST00000523821.1 - 7 1069 c.950C>A c.(949-951)aCc>aAc p.T317N MTERFD1_ENST00000524341.1_Intron|MTERFD1_ENST00000522822.1_Missense_Mutation_p.T196N|MTERFD1_ENST00000287025.3_Missense_Mutation_p.T317N Q96E29 MTER1_HUMAN MTERF domain containing 1 317 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion transcription regulatory region DNA binding p.T317N(1) endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 24 Breast(36;5.16e-05) TGGGATTCTGGTGATCATATG 0.328000 16 64 6.72482e-11 9.77658e-11 0.024245 1 0 AC005609.1 0 broad.mit.edu 37 5 140242795 140242795 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr5:140242795G>A ENST00000502505.1 - 1 429 c.181C>T c.(181-183)Ctg>Ttg p.L61L PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA14_ENST00000562220.1_RNA|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron GCGGAGAGCAGCCAAGCGAGG 0.672000 4 30 0 0 0.009096 0 0 RBL1 5933 broad.mit.edu 37 20 35632118 35632118 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr20:35632118C>A ENST00000373664.3 - 21 3089 c.3023G>T c.(3022-3024)gGc>gTc p.G1008V RBL1_ENST00000344359.3_Missense_Mutation_p.G1008V NM_002895.2 NP_002886.2 P28749 RBL1_HUMAN retinoblastoma-like 1 (p107) 1008 cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding p.G1008F(1) NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 42 Myeloproliferative disorder(115;0.00878) AGAAGGGCTGCCATTGAACTT 0.438000 23 141 7.4402e-23 1.32684e-22 0.021523 1 0 C4orf51 646603 broad.mit.edu 37 4 146601435 146601435 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr4:146601435G>C ENST00000438731.1 + 1 80 c.80G>C c.(79-81)aGa>aCa p.R27T NM_001080531.1 NP_001074000.1 C9J302 CD051_HUMAN chromosome 4 open reading frame 51 27 p.R27T(1) haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4) 6 GATCTGATCAGACGCAAGGCT 0.468000 26 141 0 0 0.027356 0 0 PRDM9 56979 broad.mit.edu 37 5 23509208 23509208 + Silent SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr5:23509208C>A ENST00000296682.3 + 2 248 c.66C>A c.(64-66)ccC>ccA p.P22P NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 22 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding p.P22P(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 AGCGGAAGCCCATGGTGAGAA 0.562000 HNSCC(3;0.000094) 17 52 1.01871e-10 1.46903e-10 0.008871 1 0 KLK15 55554 broad.mit.edu 37 19 51330248 51330248 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr19:51330248G>T ENST00000326856.4 - 4 493 c.364C>A c.(364-366)Cgc>Agc p.R122S KLK15_ENST00000596931.1_Missense_Mutation_p.R122S|KLK15_ENST00000598239.1_Missense_Mutation_p.R123S|KLK15_ENST00000301421.2_Missense_Mutation_p.R123S|KLK15_ENST00000416184.1_Intron NM_001277081.1 NP_001264010.1 Q9H2R5 KLK15_HUMAN kallikrein-related peptidase 15 123 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity p.R123S(1) breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143) ACCGCGGGGCGCACCTGGGGG 0.701000 29 87 4.34311e-12 6.6769e-12 0.015359 1 0 PLXNA4 91584 broad.mit.edu 37 7 131872244 131872244 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr7:131872244G>T ENST00000359827.3 - 15 3941 c.2979C>A c.(2977-2979)ccC>ccA p.P993P PLXNA4_ENST00000321063.4_Silent_p.P993P Q9HCM2 PLXA4_HUMAN plexin A4 993 IPT/TIG 2. integral to membrane|intracellular|plasma membrane p.P993P(2) NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GGAAGAGACAGGGCTGCTTTC 0.547000 84 561 3.99893e-49 7.6408e-49 0.014410 1 0 LY6D 8581 broad.mit.edu 37 8 143867039 143867039 + Silent SNP C C T rs138562115 TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr8:143867039C>T ENST00000301263.4 - 2 192 c.117G>A c.(115-117)ccG>ccA p.P39P RP11-706C16.8_ENST00000510610.2_RNA|LY6D_ENST00000518434.1_5'UTR NM_003695.2 NP_003686.1 Q14210 LY6D_HUMAN lymphocyte antigen 6 complex, locus D 39 UPAR/Ly6. cell adhesion anchored to membrane|membrane fraction|plasma membrane protein binding p.P39P(1) large_intestine(1)|lung(3)|prostate(1) 5 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) GAGAGCTGGCCGGGCAGACCA 0.647000 33 97 0 0 0.019004 0 0 COL11A1 1301 broad.mit.edu 37 1 103463891 103463891 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:103463891C>A ENST00000358392.2 - 25 2524 c.2207G>T c.(2206-2208)gGa>gTa p.G736V COL11A1_ENST00000512756.1_Missense_Mutation_p.G608V|COL11A1_ENST00000370096.3_Missense_Mutation_p.G724V|COL11A1_ENST00000353414.4_Missense_Mutation_p.G685V NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 724 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging p.G736V(1)|p.G724V(1) NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ACCAGGAAGTCCAGCAAGTCC 0.303000 5 24 0.014758 0.0153609 0.014758 1 0 ASIC1 41 broad.mit.edu 37 12 50471085 50471085 + Missense_Mutation SNP T T A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr12:50471085T>A ENST00000228468.4 + 4 1033 c.648T>A c.(646-648)aaT>aaA p.N216K ASIC1_ENST00000552438.1_Missense_Mutation_p.N250K|ASIC1_ENST00000447966.2_Missense_Mutation_p.N216K NM_020039.3 NP_064423.2 P78348 ACCN2_HUMAN acid-sensing (proton-gated) ion channel 1 216 calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding p.N216K(1) Amiloride(DB00594) GGACGGGCAATGGGCTGGAAA 0.617000 4 100 0 0 0.009096 0 0 GCM1 8521 broad.mit.edu 37 6 52993667 52993667 + Silent SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr6:52993667A>T ENST00000259803.7 - 6 859 c.648T>A c.(646-648)ggT>ggA p.G216G NM_003643.3 NP_003634.2 Q9NP62 GCM1_HUMAN glial cells missing homolog 1 (Drosophila) 216 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding p.G216G(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1) 24 Lung NSC(77;0.0755) CACTGTAACTACCAGGCAATT 0.438000 29 148 0 0 0.008361 0 0 PCDHB13 56123 broad.mit.edu 37 5 140594338 140594338 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr5:140594338G>T ENST00000341948.4 + 1 830 c.643G>T c.(643-645)Gca>Tca p.A215S NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 215 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.A215S(1) NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AACACTCACAGCACTGGATGG 0.547000 28 119 2.4375e-19 4.20665e-19 0.007291 1 0 SLC24A2 25769 broad.mit.edu 37 9 19597236 19597236 + Missense_Mutation SNP T T C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr9:19597236T>C ENST00000341998.2 - 4 1181 c.1120A>G c.(1120-1122)Act>Gct p.T374A SLC24A2_ENST00000286344.3_Intron NM_001193288.2|NM_020344.3 NP_001180217.1|NP_065077.1 Q9UI40 NCKX2_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 374 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity p.T374A(1) endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) CCTTCTTCAGTCATTGTGTCA 0.318000 4 22 0 0 0.009096 0 0 DIP2A 23181 broad.mit.edu 37 21 47976893 47976893 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr21:47976893G>C ENST00000318711.7 + 30 3726 c.3543G>C c.(3541-3543)aaG>aaC p.K1181N DIP2A_ENST00000417564.2_Missense_Mutation_p.K1180N|DIP2A_ENST00000400274.1_Missense_Mutation_p.K1176N NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 1180 multicellular organismal development nucleus catalytic activity|transcription factor binding p.K1180N(1)|p.K1181N(1) cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) GCTCCATAAAGCTGCAGTGTG 0.522000 7 8 0 0 0.003080 0 0 CPS1 1373 broad.mit.edu 37 2 211527847 211527847 + Splice_Site SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr2:211527847G>T ENST00000233072.5 + 33 4124 c.3927_splice c.e33-1 p.A1310_splice CPS1_ENST00000430249.2_Splice_Site_p.A1316_splice|CPS1_ENST00000451903.2_Splice_Site_p.A859_splice NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 1310 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 p.A1316S(1)|p.A1310S(1) breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TTTCCAACAGGCTCCCATGTT 0.408000 14 56 2.31682e-05 2.72418e-05 0.024245 1 0 DSC2 1824 broad.mit.edu 37 18 28648013 28648013 + Missense_Mutation SNP T T C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr18:28648013T>C ENST00000280904.6 - 16 3117 c.2674A>G c.(2674-2676)Agg>Ggg p.R892G DSC2_ENST00000251081.6_3'UTR NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 892 homophilic cell adhesion desmosome|integral to membrane calcium ion binding p.R892G(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) GCTAGTGTCCTAAATTTGGGC 0.398000 3 86 0 0 0.009096 0 0 MET 4233 broad.mit.edu 37 7 116340082 116340082 + Missense_Mutation SNP A A G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr7:116340082A>G ENST00000397752.3 + 2 1144 c.944A>G c.(943-945)aAt>aGt p.N315S MET_ENST00000436117.2_Missense_Mutation_p.N315S|MET_ENST00000318493.6_Missense_Mutation_p.N315S NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 315 Sema. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding p.N315S(1) NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) GAAGTGTTTAATATACTTCAG 0.443000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 12 72 0 0 0.010729 0 0 B4GALT6 9331 broad.mit.edu 37 18 29206276 29206276 + Missense_Mutation SNP T T A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr18:29206276T>A ENST00000306851.5 - 8 1267 c.971A>T c.(970-972)cAc>cTc p.H324L B4GALT6_ENST00000237019.7_Missense_Mutation_p.H285L|B4GALT6_ENST00000383131.3_Missense_Mutation_p.H285L NM_004775.3 NP_004766.2 Q9UBX8 B4GT6_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 324 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane metal ion binding p.H324L(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1) 20 OV - Ovarian serous cystadenocarcinoma(10;0.00791) ACCTCTATGGTGATGAGGAAT 0.353000 8 37 0 0 0.004482 0 0 SLIT1 6585 broad.mit.edu 37 10 98807553 98807553 + Missense_Mutation SNP C C A rs139828471 TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr10:98807553C>A ENST00000266058.4 - 16 1773 c.1528G>T c.(1528-1530)Gac>Tac p.D510Y ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.D510Y NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 510 LRRNT 3. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding p.D510Y(1) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) CAGACCACGTCGCTGTTGCAC 0.652000 12 81 0.00010058 0.000114979 0.013537 1 0 MYPN 84665 broad.mit.edu 37 10 69881917 69881917 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr10:69881917C>A ENST00000358913.5 + 2 1210 c.722C>A c.(721-723)gCt>gAt p.A241D MYPN_ENST00000540630.1_Missense_Mutation_p.A241D|MYPN_ENST00000373675.3_Missense_Mutation_p.A241D|MYPN_ENST00000354393.2_Intron NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 241 Interaction with CARP. nucleus|sarcomere actin binding p.A241D(1) breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 GCGGAGCAGGCTGCCAGTGAG 0.557000 12 37 4.3838e-07 5.57086e-07 0.016723 1 0 CCDC47 57003 broad.mit.edu 37 17 61842180 61842180 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr17:61842180C>T ENST00000225726.5 - 3 674 c.292G>A c.(292-294)Gat>Aat p.D98N CCDC47_ENST00000403162.3_Missense_Mutation_p.D98N|CCDC47_ENST00000582252.1_Missense_Mutation_p.D98N NM_020198.2 NP_064583.2 Q96A33 CCD47_HUMAN coiled-coil domain containing 47 98 integral to membrane protein binding p.D98N(1) endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 18 TCTTCATCATCATATGGTTCA 0.388000 18 141 0 0 0.008871 0 0 IGSF5 150084 broad.mit.edu 37 21 41165524 41165524 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr21:41165524G>A ENST00000380588.4 + 8 1215 c.1112G>A c.(1111-1113)tGt>tAt p.C371Y NM_001080444.1 NP_001073913.1 Q9NSI5 IGSF5_HUMAN immunoglobulin superfamily, member 5 371 integral to membrane|tight junction p.C371Y(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1) 23 Prostate(19;5.35e-06) AACAGTAGCTGTGGCCCTCCT 0.418000 21 145 0 0 0.014323 0 0 LRRK2 120892 broad.mit.edu 37 12 40692296 40692296 + Splice_Site SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr12:40692296G>T ENST00000298910.7 + 24 3405 c.e24+1 LRRK2_ENST00000343742.2_Splice_Site NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding p.?(2) NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TTTTAGAAGGGTAAGAAAGAG 0.358000 21 109 2.70639e-06 3.34393e-06 0.014323 1 0 ABLIM1 3983 broad.mit.edu 37 10 116197683 116197683 + Splice_Site SNP T T A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr10:116197683T>A ENST00000533213.2 - 22 2264 c.1962_splice c.e22-1 p.I655_splice ABLIM1_ENST00000369253.2_Splice_Site_p.I338_splice|ABLIM1_ENST00000277895.5_Splice_Site_p.I715_splice|ABLIM1_ENST00000369266.3_Splice_Site_p.I392_splice|ABLIM1_ENST00000392952.3_Splice_Site_p.I392_splice|ABLIM1_ENST00000369252.4_Splice_Site_p.I655_splice O14639 ABLM1_HUMAN actin binding LIM protein 1 715 axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding p.I655L(1)|p.I392L(1)|p.I715L(1) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 30 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) TATGGAAATATCTGAGAAGAA 0.418000 28 133 0 0 0.008361 0 0 MUC2 4583 broad.mit.edu 37 11 1080968 1080968 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr11:1080968C>A ENST00000441003.2 + 10 1379 c.1352C>A c.(1351-1353)gCt>gAt p.A451D MUC2_ENST00000359061.5_Missense_Mutation_p.A451D NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 451 VWFD 2. inner mucus layer|outer mucus layer protein binding p.A451D(2) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) GTGCTGCTGGCTGACAAGAAG 0.637000 11 78 4.68919e-08 6.1791e-08 0.008291 1 0 PABPC5 140886 broad.mit.edu 37 X 90690948 90690948 + Nonsense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:90690948C>A ENST00000312600.3 + 2 586 c.372C>A c.(370-372)taC>taA p.Y124* PABPC5_ENST00000373105.1_Intron NM_080832.2 NP_543022.1 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 124 RRM 2. cytoplasm nucleotide binding|RNA binding p.Y124*(1) central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1) 42 CCCTGTTTTACTTATTTTCTG 0.443000 40 202 5.20837e-25 9.41378e-25 0.008740 1 0 BSND 7809 broad.mit.edu 37 1 55474212 55474212 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:55474212G>A ENST00000371265.4 + 4 1128 c.874G>A c.(874-876)Gag>Aag p.E292K NM_057176.2 NP_476517.1 Q8WZ55 BSND_HUMAN Bartter syndrome, infantile, with sensorineural deafness (Barttin) 292 basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex p.E292K(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 TGAGAAGGAAGAGGAAGACCT 0.587000 14 161 0 0 0.028581 0 0 BOLA1 51027 broad.mit.edu 37 1 149871771 149871771 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:149871771C>G ENST00000369153.2 + 3 823 c.159C>G c.(157-159)aaC>aaG p.N53K BOLA1_ENST00000369150.1_Missense_Mutation_p.N53K|BOLA1_ENST00000476344.1_3'UTR|BOLA1_ENST00000369152.5_Missense_Mutation_p.N53K Q9Y3E2 BOLA1_HUMAN bolA family member 1 53 extracellular region protein binding p.N53K(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 10 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) AGCTTCGCAACGAGAGCGGTG 0.682000 4 66 0 0 0.014758 0 0 CUL7 9820 broad.mit.edu 37 6 43020118 43020118 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr6:43020118G>C ENST00000535468.1 - 2 651 c.565C>G c.(565-567)Cta>Gta p.L189V CUL7_ENST00000265348.3_Missense_Mutation_p.L137V NM_001168370.1|NM_014780.4 NP_001161842.1|NP_055595.2 Q14999 CUL7_HUMAN cullin 7 137 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding p.L137V(1) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 49 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) GTGTGAAGTAGAGGAGCAGGA 0.557000 12 73 0 0 0.010729 0 0 PSMC6 5706 broad.mit.edu 37 14 53180639 53180639 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr14:53180639G>T ENST00000445930.2 + 7 530 c.524G>T c.(523-525)cGt>cTt p.R175L PSMC6_ENST00000606149.1_Missense_Mutation_p.R161L P62333 PRS10_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 6 161 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 cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|protein binding, bridging p.R175L(1)|p.R161L(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 19 Breast(41;0.176) TTATTTCAGCGTGTAGGAATA 0.308000 19 118 2.39187e-15 3.94954e-15 0.008871 1 0 TRPC4 7223 broad.mit.edu 37 13 38225593 38225593 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr13:38225593G>C ENST00000379705.3 - 8 2745 c.1888C>G c.(1888-1890)Cat>Gat p.H630D TRPC4_ENST00000447043.1_Missense_Mutation_p.H630D|TRPC4_ENST00000338947.5_Missense_Mutation_p.H457D|TRPC4_ENST00000358477.2_Missense_Mutation_p.H630D|TRPC4_ENST00000379681.3_Missense_Mutation_p.H630D|TRPC4_ENST00000355779.2_Missense_Mutation_p.H630D|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000379679.1_Missense_Mutation_p.H457D|TRPC4_ENST00000426868.2_3'UTR Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 630 Binds to ITPR1, ITPR2 and ITPR3. axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity p.H630D(2) NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) ATATCTGCATGGTCCTGAACA 0.428000 7 97 0 0 0.003080 0 0 DHRS7C 201140 broad.mit.edu 37 17 9674829 9674829 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr17:9674829C>A ENST00000330255.4 - 6 927 c.915G>T c.(913-915)aaG>aaT p.K305N DHRS7C_ENST00000571134.1_Missense_Mutation_p.K304N NM_001220493.1 NP_001207422.1 A6NNS2 DRS7C_HUMAN dehydrogenase/reductase (SDR family) member 7C 305 extracellular region binding|oxidoreductase activity p.K305N(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 15 GGACATTGAGCTTCTCCTTCA 0.582000 6 24 0.00116845 0.00127315 0.021553 1 0 RBL1 5933 broad.mit.edu 37 20 35632119 35632119 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr20:35632119C>A ENST00000373664.3 - 21 3088 c.3022G>T c.(3022-3024)Ggc>Tgc p.G1008C RBL1_ENST00000344359.3_Missense_Mutation_p.G1008C NM_002895.2 NP_002886.2 P28749 RBL1_HUMAN retinoblastoma-like 1 (p107) 1008 cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding p.G1008F(1) NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 42 Myeloproliferative disorder(115;0.00878) GAAGGGCTGCCATTGAACTTG 0.438000 23 142 7.4402e-23 1.32684e-22 0.021523 1 0 OR5M1 390168 broad.mit.edu 37 11 56380709 56380709 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr11:56380709C>T ENST00000526538.1 - 1 269 c.270G>A c.(268-270)aaG>aaA p.K90K NM_001004740.1 NP_001004740.1 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, member 1 90 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.K90N(1)|p.K90K(1) central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 AGGAGATGGTCTTCTGTTCTG 0.448000 12 62 0 0 0.016723 0 0 CARD14 79092 broad.mit.edu 37 17 78165189 78165189 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr17:78165189G>T ENST00000573882.1 + 10 1693 c.1157G>T c.(1156-1158)cGc>cTc p.R386L CARD14_ENST00000392434.2_Missense_Mutation_p.R149L|CARD14_ENST00000344227.2_Missense_Mutation_p.R386L|CARD14_ENST00000570421.1_Missense_Mutation_p.R386L|CARD14_ENST00000573754.1_3'UTR Q9BXL6 CAR14_HUMAN caspase recruitment domain family, member 14 386 activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding p.R386L(1)|p.R149L(1) NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1) 23 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) GACTCCCTCCGCAGGCAGGTG 0.662000 22 115 1.22574e-08 1.66018e-08 0.014323 1 0 HYI 81888 broad.mit.edu 37 1 43918609 43918609 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:43918609G>A ENST00000372434.1 - 3 382 c.351C>T c.(349-351)ggC>ggT p.G117G HYI_ENST00000486909.1_Intron|HYI_ENST00000372426.1_Silent_p.G44G|HYI_ENST00000372425.4_Intron|HYI_ENST00000583037.1_Intron|HYI_ENST00000372432.1_Intron NM_001243526.1 NP_001230455.1 Q5T013 HYI_HUMAN hydroxypyruvate isomerase (putative) 95 hydroxypyruvate isomerase activity large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2) 6 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) aatacaccaggcctcctcttg 0.537000 4 27 0 0 0.021553 0 0 SPZ1 84654 broad.mit.edu 37 5 79617271 79617271 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr5:79617271C>A ENST00000296739.4 + 1 1482 c.1237C>A c.(1237-1239)Cat>Aat p.H413N NM_032567.3 NP_115956.3 Q9BXG8 SPZ1_HUMAN spermatogenic leucine zipper 1 413 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding p.H413N(1) endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2) 26 Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36) GTTCAATATTCATGTTGCAAG 0.373000 22 127 1.55795e-14 2.51055e-14 0.012319 1 0 SERPINA4 5267 broad.mit.edu 37 14 95030082 95030082 + Missense_Mutation SNP T T C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr14:95030082T>C ENST00000557004.1 + 2 684 c.263T>C c.(262-264)aTg>aCg p.M88T SERPINA4_ENST00000298841.5_Missense_Mutation_p.M88T|SERPINA4_ENST00000555095.1_Missense_Mutation_p.M88T|SERPINA5_ENST00000553780.1_Intron P29622 KAIN_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 88 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity p.M88T(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) GCCTACGCCATGCTTTCCCTG 0.597000 11 55 0 0 0.013537 0 0 ETAA1 54465 broad.mit.edu 37 2 67630780 67630780 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr2:67630780G>A ENST00000272342.5 + 5 1096 c.966G>A c.(964-966)gaG>gaA p.E322E ETAA1_ENST00000462772.1_Intron NM_019002.3 NP_061875.2 Q9NY74 ETAA1_HUMAN Ewing tumor-associated antigen 1 322 cytoplasm|nucleus p.E322E(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 33 TGAAAGAGGAGAAAATCATTA 0.373000 4 84 0 0 0.014758 0 0 PEAR1 375033 broad.mit.edu 37 1 156880491 156880491 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:156880491C>A ENST00000338302.3 + 16 2132 c.1907C>A c.(1906-1908)aCc>aAc p.T636N PEAR1_ENST00000292357.7_Missense_Mutation_p.T636N Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 636 EGF-like 8. integral to membrane p.T636N(1) breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TCGAACGGGACCTGCTACTGC 0.622000 5 31 2.17888e-05 2.56762e-05 0.006214 1 0 BCL11B 64919 broad.mit.edu 37 14 99641785 99641785 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr14:99641785G>A ENST00000345514.2 - 3 1441 c.1175C>T c.(1174-1176)gCg>gTg p.A392V BCL11B_ENST00000357195.3_Missense_Mutation_p.A463V|BCL11B_ENST00000443726.2_Missense_Mutation_p.A269V NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 463 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) CTGCGAGCACGCGTGGTCGCA 0.657000 T TLX3 T-ALL 3 34 0 0 0.004672 0 0 FLG2 388698 broad.mit.edu 37 1 152323527 152323527 + Silent SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:152323527G>C ENST00000388718.5 - 3 6807 c.6735C>G c.(6733-6735)tcC>tcG p.S2245S FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 2245 calcium ion binding|structural molecule activity p.S2245S(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CAGTTGTCCTGGACCCTCTCT 0.527000 73 483 0 0 0.014410 0 0 GRIK1 2897 broad.mit.edu 37 21 30934151 30934151 + Missense_Mutation SNP T T A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr21:30934151T>A ENST00000399914.1 - 14 2626 c.2105A>T c.(2104-2106)tAt>tTt p.Y702F GRIK1_ENST00000327783.4_Missense_Mutation_p.Y717F|GRIK1_ENST00000399909.1_Missense_Mutation_p.Y702F|GRIK1_ENST00000535441.1_Missense_Mutation_p.Y719F|GRIK1_ENST00000389125.3_Missense_Mutation_p.Y702F|GRIK1_ENST00000389124.2_Missense_Mutation_p.Y717F|GRIK1_ENST00000399913.1_Missense_Mutation_p.Y717F|GRIK1_ENST00000399907.1_Missense_Mutation_p.Y717F|GRIK1_ENST00000309434.7_Missense_Mutation_p.Y719F P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 717 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity p.Y717F(1)|p.Y702F(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) CATCTTCTCATAGGTGGAGAT 0.493000 4 33 0 0 0.009096 0 0 SLC9A2 6549 broad.mit.edu 37 2 103311549 103311549 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr2:103311549G>C ENST00000233969.2 + 7 1705 c.1563G>C c.(1561-1563)tgG>tgC p.W521C SLC9A2_ENST00000469286.1_3'UTR NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 521 integral to membrane|plasma membrane sodium:hydrogen antiporter activity p.W521C(1) breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 GTGGACATTGGGGTCACAACT 0.373000 13 219 0 0 0.024245 0 0 DOCK2 1794 broad.mit.edu 37 5 169509814 169509814 + Silent SNP G G A rs140457281 by1000genomes TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr5:169509814G>A ENST00000256935.8 + 52 5525 c.5445G>A c.(5443-5445)tcG>tcA p.S1815S DOCK2_ENST00000520908.1_Silent_p.S1307S|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.S876S NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1815 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 p.S1815S(1) NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 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) CCAGCAAATCGGCTGAAGAAG 0.507000 11 61 0 0 0.010729 0 0 SYCP3 50511 broad.mit.edu 37 12 102131692 102131692 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr12:102131692A>T ENST00000392927.3 - 2 153 c.22T>A c.(22-24)Tat>Aat p.Y8N SYCP3_ENST00000266743.2_Missense_Mutation_p.Y8N|SYCP3_ENST00000392924.1_Missense_Mutation_p.Y8N NM_001177948.1|NM_001177949.1|NM_153694.4 NP_001171419.1|NP_001171420.1|NP_710161.1 Q8IZU3 SYCP3_HUMAN synaptonemal complex protein 3 8 cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins nucleus DNA binding p.Y8N(1) endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 11 TTCCTGGAATACTTTTTTCCG 0.378000 60 208 0 0 0.014410 0 0 TSHZ2 128553 broad.mit.edu 37 20 51872757 51872757 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr20:51872757C>T ENST00000371497.5 + 2 3647 c.2760C>T c.(2758-2760)gaC>gaT p.D920D TSHZ2_ENST00000603338.2_Silent_p.D917D|TSHZ2_ENST00000329613.6_Silent_p.D917D|RP4-678D15.1_ENST00000606932.1_RNA NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 920 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.D920D(1) NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) AAAACATGGACAAAGGCCACC 0.473000 17 82 0 0 0.006122 0 0 UCP2 7351 broad.mit.edu 37 11 73686562 73686562 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr11:73686562C>T ENST00000310473.3 - 7 1631 c.789G>A c.(787-789)aaG>aaA p.K263K UCP2_ENST00000536983.1_Intron NM_003355.2 NP_003346.2 P55851 UCP2_HUMAN uncoupling protein 2 (mitochondrial, proton carrier) 263 proton transport|respiratory electron transport chain integral to membrane|mitochondrial inner membrane binding p.K263K(1) large_intestine(1)|lung(3)|prostate(1) 5 Breast(11;0.000112) GGGGCCCCTCCTTCTGGAGCA 0.587000 27 136 0 0 0.010818 0 0 TNN 63923 broad.mit.edu 37 1 175092757 175092757 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:175092757G>A ENST00000239462.4 + 12 2985 c.2872G>A c.(2872-2874)Ggg>Agg p.G958R NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 958 Fibronectin type-III 8. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix p.G958R(1) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GGCCCAGAAGGGGGCCCAGGA 0.612000 14 108 0 0 0.028581 0 0 SLITRK1 114798 broad.mit.edu 37 13 84455027 84455027 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr13:84455027C>T ENST00000377084.2 - 1 1501 c.616G>A c.(616-618)Gag>Aag p.E206K NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 206 integral to membrane p.E206K(1) NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) AGCAGGATCTCCGCAATACCA 0.547000 12 90 0 0 0.010729 0 0 BRSK1 84446 broad.mit.edu 37 19 55816254 55816254 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr19:55816254G>A ENST00000309383.1 + 14 1960 c.1683G>A c.(1681-1683)ctG>ctA p.L561L BRSK1_ENST00000590333.1_Silent_p.L577L|BRSK1_ENST00000588584.1_3'UTR|BRSK1_ENST00000326848.7_Silent_p.L256L NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 561 establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity p.L561L(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) ACAGCTTCCTGGGCTCCCCTC 0.657000 20 42 0 0 0.014323 0 0 OBSCN 84033 broad.mit.edu 37 1 228466474 228466474 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:228466474G>T ENST00000570156.2 + 31 8305 c.8231G>T c.(8230-8232)cGg>cTg p.R2744L OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R2315L|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1162L|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.R2315L NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1745 Ig-like 27. 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 p.R2499L(1)|p.R2315L(1)|p.R2369L(1)|p.R2598L(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CAGGTGTCCCGGGCCAGCGCC 0.652000 10 50 0.00829132 0.00874922 0.008291 1 0 RGS4 5999 broad.mit.edu 37 1 163039278 163039278 + Missense_Mutation SNP T T A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:163039278T>A ENST00000421743.2 + 2 455 c.295T>A c.(295-297)Tgc>Agc p.C99S RGS4_ENST00000531057.1_Missense_Mutation_p.C2S|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367909.6_Missense_Mutation_p.C2S|RGS4_ENST00000367908.4_Missense_Mutation_p.C2S|RGS4_ENST00000527809.1_Intron NM_001102445.2|NM_001113380.1 NP_001095915.1|NP_001106851.1 P49798 RGS4_HUMAN regulator of G-protein signaling 4 2 RGS. inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity p.C99S(1)|p.C2S(1) breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2) 21 AAATAAGATGTGCAAAGGGCT 0.458000 OREG0013952 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 57 0 0 0.020292 0 0 PDZD4 57595 broad.mit.edu 37 X 153068961 153068961 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:153068961G>T ENST00000164640.4 - 8 2348 c.2157C>A c.(2155-2157)aaC>aaA p.N719K PDZD4_ENST00000544474.1_Missense_Mutation_p.N610K|PDZD4_ENST00000393758.2_Missense_Mutation_p.N644K NM_032512.2 NP_115901.2 Q76G19 PDZD4_HUMAN PDZ domain containing 4 719 cell cortex p.N719K(1) breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1) 23 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGGCAATGATGTTGAGCTCGG 0.622000 7 105 0.00307968 0.00330849 0.003080 1 0 AKAP12 9590 broad.mit.edu 37 6 151669913 151669913 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr6:151669913G>A ENST00000402676.2 + 4 627 c.387G>A c.(385-387)gcG>gcA p.A129A AKAP12_ENST00000253332.1_Silent_p.A129A|AKAP12_ENST00000359755.5_Silent_p.A24A|AKAP12_ENST00000490177.1_3'UTR|AKAP12_ENST00000354675.6_Silent_p.A31A NM_005100.3 NP_005091.2 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 129 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding p.A129A(1) breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 68 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) CTAAGTCAGCGGTTGTTCACG 0.468000 8 86 0 0 0.006214 0 0 ABCB1 5243 broad.mit.edu 37 7 87179275 87179275 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr7:87179275G>T ENST00000265724.3 - 14 1863 c.1446C>A c.(1444-1446)acC>acA p.T482T ABCB1_ENST00000543898.1_Silent_p.T418T NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 482 ABC transporter 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity p.T482T(1) NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CAGCTATCGTGGTGGCAAACA 0.433000 45 240 5.7616e-29 1.06292e-28 0.014410 1 0 CLEC12B 387837 broad.mit.edu 37 12 10168296 10168296 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr12:10168296G>T ENST00000396502.1 + 5 778 c.650G>T c.(649-651)tGg>tTg p.W217L CLEC12B_ENST00000338896.5_Missense_Mutation_p.W217L|RP11-133L14.5_ENST00000544225.1_RNA NM_205852.2 NP_995324.2 Q2HXU8 CL12B_HUMAN C-type lectin domain family 12, member B 217 C-type lectin. integral to membrane|plasma membrane receptor activity|sugar binding p.W217L(2) central_nervous_system(2)|large_intestine(2)|lung(5) 9 AGTTGGTTCTGGGAAGATGGC 0.418000 30 101 2.08457e-15 3.45277e-15 0.010818 1 0 GP2 2813 broad.mit.edu 37 16 20331623 20331623 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr16:20331623G>T ENST00000302555.5 - 5 968 c.819C>A c.(817-819)acC>acA p.T273T GP2_ENST00000573897.1_5'UTR|GP2_ENST00000381362.4_Silent_p.T276T|GP2_ENST00000381360.5_Silent_p.T129T|GP2_ENST00000341642.5_Silent_p.T126T P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 276 ZP. anchored to membrane|extracellular region|plasma membrane p.T273T(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GGACGGGGCTGGTCACAGATA 0.567000 12 129 0.000308642 0.000346898 0.024245 1 0 CTNNBL1 56259 broad.mit.edu 37 20 36488711 36488711 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr20:36488711G>A ENST00000405275.2 + 16 1730 c.1487G>A c.(1486-1488)gGa>gAa p.G496E CTNNBL1_ENST00000373469.1_Missense_Mutation_p.G271E|CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000373473.1_Missense_Mutation_p.G336E|CTNNBL1_ENST00000361383.6_Missense_Mutation_p.G523E Q8WYA6 CTBL1_HUMAN catenin, beta like 1 523 apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins nucleus enzyme binding autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) AACATGCGAGGAAGCTCCATC 0.448000 7 225 0 0 0.004482 0 0 GATAD2A 54815 broad.mit.edu 37 19 19576209 19576209 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr19:19576209C>G ENST00000404158.1 + 4 473 c.55C>G c.(55-57)Cca>Gca p.P19A GATAD2A_ENST00000358713.3_Missense_Mutation_p.P19A|GATAD2A_ENST00000252577.5_Missense_Mutation_p.P19A|GATAD2A_ENST00000537887.1_5'UTR|GATAD2A_ENST00000360315.3_Missense_Mutation_p.P19A|GATAD2A_ENST00000494516.1_3'UTR Q86YP4 P66A_HUMAN GATA zinc finger domain containing 2A 19 DNA methylation|negative regulation of transcription, DNA-dependent nuclear speck|NuRD complex protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P19A(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 13 TGAACGGGACCCAACAGAGGA 0.493000 26 134 0 0 0.027356 0 0 ESPNL 339768 broad.mit.edu 37 2 239013434 239013434 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr2:239013434C>G ENST00000343063.3 + 3 886 c.623C>G c.(622-624)gCc>gGc p.A208G ESPNL_ENST00000409169.1_Missense_Mutation_p.A208G NM_194312.2 NP_919288.2 Q6ZVH7 ESPNL_HUMAN espin-like 208 p.A208G(1) endometrium(1)|lung(8)|pancreas(2)|skin(2) 13 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) GGCATGAGCGCCCTGCACGCT 0.672000 3 7 0 0 0.004672 0 0 MROH8 140699 broad.mit.edu 37 20 35737068 35737068 + Splice_Site SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr20:35737068C>A ENST00000400441.3 - 23 2914 c.e23-1 MROH8_ENST00000217333.8_Splice_Site|MROH8_ENST00000441008.2_Splice_Site maestro heat-like repeat family member 8 p.?(3) GATAAAAGGCCTAAAGGCAGG 0.423000 6 35 1.06961e-07 1.39232e-07 0.003080 1 0 ARHGEF2 9181 broad.mit.edu 37 1 155921320 155921320 + Missense_Mutation SNP G G A rs138090439 byFrequency TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:155921320G>A ENST00000368316.1 - 23 2599 c.2129C>T c.(2128-2130)gCg>gTg p.A710V ARHGEF2_ENST00000313695.7_Missense_Mutation_p.A710V|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.A738V|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.A737V|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.A739V Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 2 738 actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding p.A710V(1) breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2) 40 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) TCGCTGTAACGCCTCCTGAGG 0.562000 18 151 0 0 0.010504 0 0 MYLK 4638 broad.mit.edu 37 3 123419703 123419703 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr3:123419703C>A ENST00000360772.3 - 19 2990 c.2612G>T c.(2611-2613)gGg>gTg p.G871V MYLK_ENST00000475616.1_Missense_Mutation_p.G871V|MYLK_ENST00000360304.3_Missense_Mutation_p.G871V|MYLK_ENST00000359169.1_Missense_Mutation_p.G871V|MYLK_ENST00000346322.5_Missense_Mutation_p.G802V Q15746 MYLK_HUMAN myosin light chain kinase 871 5 X 28 AA approximate tandem repeats. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity p.G871V(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CTTCAGCACCCCTCGCACGTC 0.652000 28 130 1.1423e-28 2.10011e-28 0.009535 1 0 FYCO1 79443 broad.mit.edu 37 3 46023127 46023127 + Nonsense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr3:46023127C>A ENST00000296137.2 - 3 302 c.97G>T c.(97-99)Gaa>Taa p.E33* FYCO1_ENST00000535325.1_Nonsense_Mutation_p.E33* NM_024513.3 NP_078789.2 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 33 transport integral to membrane metal ion binding|protein binding p.E33*(1) NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 54 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) GTGATGGGTTCCCCTGCTTCC 0.398000 15 136 1.37285e-15 2.28098e-15 0.028581 1 0 NOTCH1 4851 broad.mit.edu 37 9 139413994 139413994 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr9:139413994C>G ENST00000277541.6 - 5 841 c.766G>C c.(766-768)Gaa>Caa p.E256Q NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 256 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.E256Q(2) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) TCGATATTTTCCTCACAGTTC 0.627000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 43 222 0 0 0.009718 0 0 KMT2C 58508 broad.mit.edu 37 7 151874497 151874497 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr7:151874497G>C ENST00000355193.2 - 38 8259 c.8041C>G c.(8041-8043)Cct>Gct p.P2681A KMT2C_ENST00000262189.6_Missense_Mutation_p.P2681A lysine (K)-specific methyltransferase 2C p.P2681A(2) CCATCAGAAGGCTGGGTGGTT 0.428000 12 112 0 0 0.020292 0 0 SPINK8 646424 broad.mit.edu 37 3 48362530 48362530 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr3:48362530C>G ENST00000434006.1 - 2 101 c.102G>C c.(100-102)caG>caC p.Q34H NM_001080525.1 NP_001073994.1 P0C7L1 ISK8_HUMAN serine peptidase inhibitor, Kazal type 8 (putative) 34 extracellular region serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|kidney(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) TTTTGTCTAGCTGACCTCTTT 0.478000 2 8 0 0 0.004672 0 0 UBQLN3 50613 broad.mit.edu 37 11 5529464 5529464 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr11:5529464G>C ENST00000311659.4 - 2 1472 c.1325C>G c.(1324-1326)cCt>cGt p.P442R HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 442 p.P442R(1) NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GACAAGATCAGGCAAGTTTGT 0.537000 19 135 0 0 0.007413 0 0 HTR3C 170572 broad.mit.edu 37 3 183773977 183773977 + Missense_Mutation SNP C C A rs149370364 TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr3:183773977C>A ENST00000318351.1 + 4 326 c.292C>A c.(292-294)Cct>Act p.P98T NM_130770.2 NP_570126.2 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic 98 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity p.P98T(1) central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2) 32 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) ATGGGACAATCCTTTCATTAA 0.478000 12 129 0.00010058 0.000114979 0.013537 1 0 BAG6 7917 broad.mit.edu 37 6 31612763 31612763 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr6:31612763C>T ENST00000404765.2 - 10 1618 c.1329G>A c.(1327-1329)caG>caA p.Q443Q BAG6_ENST00000439687.2_Silent_p.Q443Q|BAG6_ENST00000375976.4_Silent_p.Q443Q|BAG6_ENST00000211379.5_Silent_p.Q443Q|BAG6_ENST00000362049.6_Silent_p.Q443Q|BAG6_ENST00000375964.6_Silent_p.Q449Q P46379 BAG6_HUMAN BCL2-associated athanogene 6 449 4 X 29 AA approximate repeats.|Pro-rich. apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding p.Q443Q(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2) 36 GTTCCACACTCTGGTGGGAAA 0.587000 21 360 0 0 0.016522 0 0 HAS1 3036 broad.mit.edu 37 19 52222512 52222512 + Nonsense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr19:52222512C>A ENST00000540069.2 - 2 706 c.646G>T c.(646-648)Gag>Tag p.E216* HAS1_ENST00000222115.1_Nonsense_Mutation_p.E217*|HAS1_ENST00000601714.1_Nonsense_Mutation_p.E224*|HAS1_ENST00000594621.1_Nonsense_Mutation_p.E71* Q92839 HAS1_HUMAN hyaluronan synthase 1 217 cell adhesion integral to plasma membrane hyaluronan synthase activity|protein binding p.E217*(1) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 40 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) TACATGACCTCGCGCTTGCCG 0.662000 5 43 0.000602214 0.000667049 0.014758 1 0 COL4A6 1288 broad.mit.edu 37 X 107422549 107422549 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:107422549C>A ENST00000394872.2 - 26 2485 c.2254G>T c.(2254-2256)Gac>Tac p.D752Y COL4A6_ENST00000372216.4_Missense_Mutation_p.D752Y|COL4A6_ENST00000334504.7_Missense_Mutation_p.D751Y|COL4A6_ENST00000545689.1_Missense_Mutation_p.D751Y|COL4A6_ENST00000538570.1_Missense_Mutation_p.D751Y Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 752 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding p.D751Y(1) breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 CCAAAGATGTCACCAGTGGCT 0.547000 Alport syndrome with Diffuse Leiomyomatosis 13 135 5.50884e-06 6.6379e-06 0.013537 1 0 BRD8 10902 broad.mit.edu 37 5 137488440 137488440 + Missense_Mutation SNP C C G rs148605042 by1000genomes TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr5:137488440C>G ENST00000254900.5 - 21 2958 c.2587G>C c.(2587-2589)Gag>Cag p.E863Q NM_139199.1 NP_631938.1 Q9H0E9 BRD8_HUMAN bromodomain containing 8 863 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity p.E863Q(1) breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) CAAACCCACTCGTGTCCCATC 0.438000 33 147 0 0 0.017118 0 0 ZEB2 9839 broad.mit.edu 37 2 145157678 145157678 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr2:145157678G>C ENST00000558170.2 - 8 2260 c.1076C>G c.(1075-1077)tCt>tGt p.S359C ZEB2_ENST00000409487.3_Missense_Mutation_p.S359C|ZEB2_ENST00000303660.4_Missense_Mutation_p.S359C|ZEB2_ENST00000539609.3_Missense_Mutation_p.S335C NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 359 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding p.S359C(1) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) AGTAGGAGAAGAAGAAACAGA 0.373000 18 61 0 0 0.006122 0 0 JPH2 57158 broad.mit.edu 37 20 42815297 42815297 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr20:42815297C>A ENST00000372980.3 - 1 921 c.49G>T c.(49-51)Ggc>Tgc p.G17C JPH2_ENST00000342272.3_Missense_Mutation_p.G17C NM_020433.4 NP_065166.2 Q9BR39 JPH2_HUMAN junctophilin 2 17 Gly-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane p.G17C(2) NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CCCTCCCAGCCCCCGCAGTAC 0.642000 25 90 2.44723e-14 3.90826e-14 0.024334 1 0 CACNA1F 778 broad.mit.edu 37 X 49063289 49063289 + Silent SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:49063289C>G ENST00000376265.2 - 45 5353 c.5292G>C c.(5290-5292)ggG>ggC p.G1764G CACNA1F_ENST00000376251.1_Silent_p.G1699G|CACNA1F_ENST00000323022.5_Silent_p.G1753G NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 1764 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity p.G1764G(1) autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) ACGGGGGAGTCCCTGCCTGCT 0.637000 12 77 0 0 0.024245 0 0 H2BFWT 158983 broad.mit.edu 37 X 103268141 103268141 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:103268141C>G ENST00000217926.5 - 1 118 c.92G>C c.(91-93)gGa>gCa p.G31A NM_001002916.3 NP_001002916.2 Q7Z2G1 H2BWT_HUMAN H2B histone family, member W, testis-specific 31 nucleosome assembly nuclear membrane|nucleosome DNA binding p.G31A(1) breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 16 AGAGGAAGGTCCAGCCATGGC 0.612000 4 29 0 0 0.009096 0 0 ADCY1 107 broad.mit.edu 37 7 45744158 45744158 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr7:45744158G>T ENST00000297323.7 + 17 2782 c.2760G>T c.(2758-2760)aaG>aaT p.K920N NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 920 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|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding p.K920N(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) AGAAGATCAAGACCATCGGGA 0.502000 27 170 1.74807e-11 2.60506e-11 0.010818 1 0 PCDHGC5 56097 broad.mit.edu 37 5 140869878 140869878 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr5:140869878C>A ENST00000252087.1 + 1 1071 c.1071C>A c.(1069-1071)aaC>aaA p.N357K PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron NM_018929.2|NM_032403.2|NM_032407.1 NP_061752.1|NP_115779.1|NP_115783.1 Q9Y5F6 PCDGM_HUMAN 357 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.N357K(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTTGGCCAACCCTGTCCTAG 0.542000 14 86 2.35188e-11 3.48548e-11 0.006122 1 0 NID1 4811 broad.mit.edu 37 1 236187423 236187423 + Missense_Mutation SNP T T A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:236187423T>A ENST00000264187.6 - 9 2157 c.2075A>T c.(2074-2076)cAg>cTg p.Q692L NID1_ENST00000366595.3_Missense_Mutation_p.Q692L NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 692 EGF-like 2. cell-matrix adhesion basement membrane calcium ion binding p.Q692L(1) breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 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) GCAGGTGAACTGTGTCCTGGG 0.587000 6 55 0 0 0.004482 0 0 NRROS 375387 broad.mit.edu 37 3 196388131 196388131 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr3:196388131G>T ENST00000328557.4 + 3 1820 c.1617G>T c.(1615-1617)agG>agT p.R539S NM_198565.1 NP_940967.1 negative regulator of reactive oxygen species p.R539S(1) GGAATCTCAGGGACTTAGATC 0.567000 23 217 2.44723e-14 3.90826e-14 0.024334 1 0 ZKSCAN7 55888 broad.mit.edu 37 3 44611702 44611702 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr3:44611702C>G ENST00000273320.3 + 6 1529 c.1100C>G c.(1099-1101)tCt>tGt p.S367C RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.S367C|ZKSCAN7_ENST00000431636.1_Intron NM_018651.2 NP_061121.2 zinc finger with KRAB and SCAN domains 7 p.S367C(1) CCACCTCTGTCTTCCAGTCCT 0.378000 17 156 0 0 0.007413 0 0 MYBL2 4605 broad.mit.edu 37 20 42340215 42340215 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr20:42340215C>T ENST00000217026.4 + 11 1820 c.1693C>T c.(1693-1695)Ccc>Tcc p.P565S MYBL2_ENST00000396863.4_Missense_Mutation_p.P541S NM_002466.2 NP_002457.1 P10244 MYBB_HUMAN v-myb avian myeloblastosis viral oncogene homolog-like 2 565 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.P565S(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 46 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) CGACATCAGGCCCGAGAAGCA 0.632000 6 28 0 0 0.001984 0 0 CLNK 116449 broad.mit.edu 37 4 10492234 10492234 + Missense_Mutation SNP A A G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr4:10492234A>G ENST00000226951.6 - 19 1383 c.1144T>C c.(1144-1146)Ttt>Ctt p.F382L CLNK_ENST00000515667.1_Missense_Mutation_p.F120L NM_052964.2 NP_443196.2 Q7Z7G1 CLNK_HUMAN cytokine-dependent hematopoietic cell linker 382 SH2. immune response|intracellular signal transduction intracellular SH3/SH2 adaptor activity p.F382L(2) NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1) 17 ACTGAATCAAACTTCTGAAAC 0.363000 2 10 0 0 0.004672 0 0 PRPF6 24148 broad.mit.edu 37 20 62612636 62612636 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr20:62612636C>T ENST00000535781.1 + 1 149 c.38C>T c.(37-39)gCg>gTg p.A13V ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron O94906 PRP6_HUMAN pre-mRNA processing factor 6 13 assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity p.A13V(1) breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) GGGATGCCCGCGCCCCTCGGC 0.677000 5 15 0 0 0.004482 0 0 NEK5 341676 broad.mit.edu 37 13 52663447 52663447 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr13:52663447G>T ENST00000355568.4 - 14 1350 c.1211C>A c.(1210-1212)cCt>cAt p.P404H NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 404 ATP binding|metal ion binding|protein serine/threonine kinase activity p.P461H(1)|p.P404H(1) breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) GTACTCAGCAGGCCTTAGAAA 0.328000 8 28 1.58986e-06 1.96893e-06 0.008291 1 0 SETD4 54093 broad.mit.edu 37 21 37429497 37429497 + Nonsense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr21:37429497C>A ENST00000399215.1 - 2 1451 c.79G>T c.(79-81)Gag>Tag p.E27* SETD4_ENST00000399212.1_Nonsense_Mutation_p.E3*|SETD4_ENST00000332131.4_Nonsense_Mutation_p.E27*|SETD4_ENST00000399207.1_Nonsense_Mutation_p.E27*|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399208.2_Nonsense_Mutation_p.E27*|SETD4_ENST00000399201.1_Nonsense_Mutation_p.E3*|SETD4_ENST00000399205.1_Nonsense_Mutation_p.E3* Q9NVD3 SETD4_HUMAN SET domain containing 4 27 p.E27*(1) autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1) 15 TTGTGGCTCTCATTCACTATC 0.383000 19 109 4.96729e-08 6.52948e-08 0.008871 1 0 TDRD5 163589 broad.mit.edu 37 1 179562680 179562680 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:179562680G>T ENST00000444136.1 + 3 568 c.318G>T c.(316-318)aaG>aaT p.K106N TDRD5_ENST00000294848.8_Missense_Mutation_p.K106N|TDRD5_ENST00000367614.1_Missense_Mutation_p.K106N NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 106 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding p.K106N(1) NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 CAATGCATAAGGGAAGACCTA 0.453000 21 82 3.62473e-10 5.14385e-10 0.012319 1 0 LPHN3 23284 broad.mit.edu 37 4 62758472 62758472 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr4:62758472G>T ENST00000512091.1 + 9 2122 c.1375G>T c.(1375-1377)Gtg>Ttg p.V459L LPHN3_ENST00000504896.1_Missense_Mutation_p.V459L|LPHN3_ENST00000508946.1_Missense_Mutation_p.V459L|LPHN3_ENST00000508693.1_Missense_Mutation_p.V527L|LPHN3_ENST00000514157.1_Missense_Mutation_p.V459L|LPHN3_ENST00000545650.1_Missense_Mutation_p.V459L|LPHN3_ENST00000514996.1_Missense_Mutation_p.V459L|LPHN3_ENST00000507625.1_Missense_Mutation_p.V527L|LPHN3_ENST00000509896.1_Missense_Mutation_p.V527L|LPHN3_ENST00000514591.1_Missense_Mutation_p.V459L|LPHN3_ENST00000507164.1_Missense_Mutation_p.V527L|LPHN3_ENST00000511324.1_Missense_Mutation_p.V527L|LPHN3_ENST00000506746.1_Missense_Mutation_p.V527L|LPHN3_ENST00000506700.1_Missense_Mutation_p.V459L|LPHN3_ENST00000506720.1_Missense_Mutation_p.V527L Q9HAR2 LPHN3_HUMAN latrophilin 3 459 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding p.V459L(3) breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 CACCCCGTCAGTGTCAGGAAG 0.532000 14 89 1.3612e-06 1.7015e-06 0.024245 1 0 ADAMTS4 9507 broad.mit.edu 37 1 161161242 161161242 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:161161242C>A ENST00000367996.4 - 9 2628 c.2200G>T c.(2200-2202)Ggc>Tgc p.G734C NM_005099.4 NP_005090.3 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 4 734 Spacer. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding p.G734C(2) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1) 43 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GCATAGGAGCCATCTGGCAGC 0.622000 13 107 1.05317e-09 1.47114e-09 0.020292 1 0 FAT2 2196 broad.mit.edu 37 5 150923860 150923860 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr5:150923860G>T ENST00000261800.5 - 9 6840 c.6828C>A c.(6826-6828)gtC>gtA p.V2276V NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 2276 Cadherin 20. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding p.V2276V(1) NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAGTGGTATAGACCAATTGGG 0.517000 28 133 5.61819e-17 9.4818e-17 0.027356 1 0 CBLN2 147381 broad.mit.edu 37 18 70205991 70205991 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr18:70205991C>A ENST00000269503.4 - 4 1147 c.374G>T c.(373-375)gGc>gTc p.G125V CBLN2_ENST00000585159.1_Missense_Mutation_p.G125V|CBLN2_ENST00000581073.1_Missense_Mutation_p.G11V|CBLN2_ENST00000583651.1_5'UTR|CBLN2_ENST00000584764.1_Missense_Mutation_p.G9V NM_182511.3 NP_872317.1 Q8IUK8 CBLN2_HUMAN cerebellin 2 precursor 125 C1q. integral to membrane p.G125F(1) endometrium(2)|lung(15) 17 Esophageal squamous(42;0.131) AAAGTGGTTGCCAATATTTAC 0.423000 14 98 7.93312e-07 9.96296e-07 0.020292 1 0 RILP 83547 broad.mit.edu 37 17 1551212 1551212 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr17:1551212G>A ENST00000301336.6 - 6 1133 c.861C>T c.(859-861)ctC>ctT p.L287L NM_031430.2 NP_113618.2 Q96NA2 RILP_HUMAN Rab interacting lysosomal protein 287 Necessary for the interaction with RAB7 and RAB34, lysosomal distribution and morphology. endosome to lysosome transport|protein transport late endosome membrane|lysosomal membrane|phagocytic vesicle membrane Rab GTPase binding p.L287L(1) endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4) 15 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) TCATGGCCTCGAGCAGAAGGC 0.607000 5 88 0 0 0.003080 0 0 PKD1L1 168507 broad.mit.edu 37 7 47897406 47897406 + Missense_Mutation SNP T T A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr7:47897406T>A ENST00000289672.2 - 28 4437 c.4387A>T c.(4387-4389)Agc>Tgc p.S1463C NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1463 REJ. cell-cell adhesion integral to membrane p.S1463C(1) BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 TGCCCAGTGCTAACATGGTTC 0.478000 17 67 0 0 0.010504 0 0 OLFML2B 25903 broad.mit.edu 37 1 161953664 161953664 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:161953664G>A ENST00000294794.3 - 8 2477 c.2054C>T c.(2053-2055)gCc>gTc p.A685V OLFML2B_ENST00000367938.1_Missense_Mutation_p.A168V|OLFML2B_ENST00000367940.2_Missense_Mutation_p.A686V NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 685 Olfactomedin-like. p.A685V(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) GCTATCCACGGCATACAGCAC 0.562000 6 226 0 0 0.021553 0 0 KLHL5 51088 broad.mit.edu 37 4 39116892 39116892 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr4:39116892G>T ENST00000261425.3 + 11 2167 c.2015G>T c.(2014-2016)gGa>gTa p.G672V RP11-360F5.1_ENST00000509449.1_RNA|KLHL5_ENST00000261426.5_Missense_Mutation_p.G657V|KLHL5_ENST00000359687.2_Missense_Mutation_p.G718V|KLHL5_ENST00000381930.3_Missense_Mutation_p.G718V|KLHL5_ENST00000508137.2_Missense_Mutation_p.G531V|KLHL5_ENST00000504108.1_Missense_Mutation_p.G718V NM_001007075.2 NP_001007076.1 Q96PQ7 KLHL5_HUMAN kelch-like family member 5 718 cytoplasm|cytoskeleton actin binding p.G718V(1) endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 GGGTATGATGGACAGGCATAC 0.448000 7 71 5.18039e-06 6.2846e-06 0.003080 1 0 GALR1 2587 broad.mit.edu 37 18 74962576 74962576 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr18:74962576G>A ENST00000299727.3 + 1 72 c.72G>A c.(70-72)ggG>ggA p.G24G NM_001480.3 NP_001471.2 P47211 GALR1_HUMAN galanin receptor 1 24 digestion|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity p.G24G(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104) CGGAGCCCGGGCCGCTGTTCG 0.721000 3 6 0 0 0.004672 0 0 C2orf49 79074 broad.mit.edu 37 2 105959478 105959478 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr2:105959478C>G ENST00000258457.2 + 3 669 c.440C>G c.(439-441)tCg>tGg p.S147W C2orf49_ENST00000410049.1_Intron|C2orf49_ENST00000437250.2_Intron Q9BVC5 ASHWN_HUMAN chromosome 2 open reading frame 49 147 tRNA-splicing ligase complex endometrium(1)|kidney(1)|large_intestine(3)|lung(1) 6 AATTCCTCTTCGAGTGTTTCA 0.393000 4 151 0 0 0.014758 0 0 BRINP3 339479 broad.mit.edu 37 1 190067913 190067913 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:190067913G>T ENST00000367462.3 - 8 1767 c.1536C>A c.(1534-1536)gcC>gcA p.A512A FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.A410A NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 512 extracellular region p.A512A(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) TGATAAAAATGGCATGGACTT 0.463000 36 186 2.6416e-12 4.13233e-12 0.025465 1 0 SULT1C4 27233 broad.mit.edu 37 2 108998221 108998221 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr2:108998221C>A ENST00000272452.2 + 2 499 c.173C>A c.(172-174)aCa>aAa p.T58K SULT1C4_ENST00000409309.3_Missense_Mutation_p.T58K NM_006588.2 NP_006579.2 O75897 ST1C4_HUMAN sulfotransferase family, cytosolic, 1C, member 4 58 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol sulfotransferase activity p.T58K(1) endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 12 ACGTAAGGAACAACATGGACT 0.353000 19 94 1.01871e-10 1.46903e-10 0.008871 1 0 TMEM2 23670 broad.mit.edu 37 9 74305045 74305045 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr9:74305045G>A ENST00000377044.4 - 22 4353 c.3814C>T c.(3814-3816)Cgc>Tgc p.R1272C TMEM2_ENST00000396272.3_Missense_Mutation_p.R265C|TMEM2_ENST00000377066.5_Missense_Mutation_p.R1209C NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 1272 integral to membrane p.R1272C(1) central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 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) TCTTCAATGCGACTGACATCA 0.488000 12 218 0 0 0.013537 0 0 CLVS1 157807 broad.mit.edu 37 8 62212572 62212572 + Silent SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr8:62212572C>G ENST00000519846.1 + 3 658 c.186C>G c.(184-186)acC>acG p.T62T CLVS1_ENST00000325897.4_Silent_p.T62T|CLVS1_ENST00000518592.1_Intron Q8IUQ0 CLVS1_HUMAN clavesin 1 62 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity p.T62T(1) endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 TGATCATCACCAGGCCTGACA 0.473000 10 47 0 0 0.016723 0 0 CHL1 10752 broad.mit.edu 37 3 440019 440019 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr3:440019G>T ENST00000256509.2 + 25 3846 c.3204G>T c.(3202-3204)tgG>tgT p.W1068C CHL1_ENST00000397491.2_Missense_Mutation_p.W1052C NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 1052 axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix p.W1068C(1) NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 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) CTAAGAATTGGGGCGATAATG 0.393000 6 89 3.27435e-08 4.35766e-08 0.020292 1 0 KCNA7 3743 broad.mit.edu 37 19 49573799 49573799 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr19:49573799G>T ENST00000221444.1 - 2 1247 c.892C>A c.(892-894)Ctg>Atg p.L298M NM_031886.2 NP_114092.2 Q96RP8 KCNA7_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 7 298 voltage-gated potassium channel complex voltage-gated potassium channel activity p.L298M(1) central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2) 11 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441) AAGATTTGCAGGCCCTTTGAG 0.597000 22 72 4.35082e-09 5.98377e-09 0.010504 1 0 CNTNAP2 26047 broad.mit.edu 37 7 146818215 146818215 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr7:146818215G>T ENST00000361727.3 + 6 1415 c.899G>T c.(898-900)cGt>cTt p.R300L NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 300 Laminin G-like 1. 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 p.R300L(1)|p.R300H(1) NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 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) CAGCACTTCCGTACCAATGGA 0.483000 HNSCC(39;0.1) 12 61 1.36491e-13 2.1733e-13 0.016723 1 0 PABPC5 140886 broad.mit.edu 37 X 90690839 90690839 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:90690839C>T ENST00000312600.3 + 2 477 c.263C>T c.(262-264)cCa>cTa p.P88L PABPC5_ENST00000373105.1_Intron NM_080832.2 NP_543022.1 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 88 RRM 1. cytoplasm nucleotide binding|RNA binding p.P88L(1) central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1) 42 AATGGAAAACCATTCCGCCTT 0.473000 17 76 0 0 0.028581 0 0 AHNAK 79026 broad.mit.edu 37 11 62284435 62284435 + Silent SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr11:62284435C>G ENST00000378024.4 - 5 17728 c.17454G>C c.(17452-17454)ggG>ggC p.G5818G AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 5818 nervous system development nucleus protein binding p.G5818G(1) NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) ATTTCAGCTTCCCGTGTTTCC 0.517000 32 179 0 0 0.010818 0 0 FMNL1 752 broad.mit.edu 37 17 43323891 43323891 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr17:43323891C>T ENST00000331495.3 + 26 3567 c.3231C>T c.(3229-3231)ttC>ttT p.F1077F CTD-2020K17.4_ENST00000420431.2_RNA|FMNL1_ENST00000587489.1_Intron|FMNL1_ENST00000328118.3_Intron NM_005892.3 NP_005883.2 O95466 FMNL_HUMAN formin-like 1 1077 DAD. actin cytoskeleton organization actin binding|Rho GTPase binding p.F1077F(2) biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2) 33 CGGTGCCCTTCACGGCCCGCA 0.582000 OREG0024478 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 81 0 0 0.008291 0 0 C1orf168 199920 broad.mit.edu 37 1 57209875 57209875 + Silent SNP A A G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:57209875A>G ENST00000343433.6 - 10 1532 c.1452T>C c.(1450-1452)agT>agC p.S484S C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 484 p.S484S(1) NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 CCGAGATGGAACTTGTCTTAG 0.418000 17 130 0 0 0.007413 0 0 FXR1 8087 broad.mit.edu 37 3 180685989 180685989 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr3:180685989C>T ENST00000357559.4 + 14 1733 c.1349C>T c.(1348-1350)tCa>tTa p.S450L FXR1_ENST00000305586.7_Missense_Mutation_p.S365L|FXR1_ENST00000491062.1_Missense_Mutation_p.S401L|FXR1_ENST00000468861.1_Missense_Mutation_p.S365L|FXR1_ENST00000445140.2_Missense_Mutation_p.S450L|FXR1_ENST00000480918.1_Missense_Mutation_p.S437L NM_001013438.2|NM_005087.3 NP_001013456.1|NP_005078.2 P51114 FXR1_HUMAN fragile X mental retardation, autosomal homolog 1 450 RNA-binding RGG-box. apoptosis|cell differentiation|muscle organ development nucleolus|polysome p.S450L(1) breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2) 26 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) AGAAGTGTTTCAGGGGGTCGA 0.512000 13 48 0 0 0.020292 0 0 CDH23 64072 broad.mit.edu 37 10 73574861 73574861 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr10:73574861C>T ENST00000224721.6 + 69 9911 c.9906C>T c.(9904-9906)ctC>ctT p.L3302L CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.L1057L NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 3297 calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding p.L3302L(1) NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CCACCGACCTCAACAGCCTGC 0.682000 3 15 0 0 0.004672 0 0 CLN3 1201 broad.mit.edu 37 16 28488846 28488846 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr16:28488846C>T ENST00000569430.1 - 17 2127 c.1308G>A c.(1306-1308)caG>caA p.Q436Q CLN3_ENST00000395653.4_Silent_p.Q336Q|CLN3_ENST00000535392.1_Silent_p.Q358Q|CLN3_ENST00000568224.1_Silent_p.Q358Q|CLN3_ENST00000567963.1_Silent_p.Q339Q|CLN3_ENST00000355477.5_Silent_p.Q388Q|CLN3_ENST00000357806.7_Silent_p.Q337Q|CLN3_ENST00000359984.7_Silent_p.Q436Q|CLN3_ENST00000333496.9_Silent_p.Q412Q|CLN3_ENST00000360019.2_Silent_p.Q436Q|CLN3_ENST00000354630.5_Silent_p.Q419Q|CLN3_ENST00000357857.9_Silent_p.Q382Q|CLN3_ENST00000565316.1_Silent_p.Q419Q Q13286 CLN3_HUMAN ceroid-lipofuscinosis, neuronal 3 436 amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network unfolded protein binding p.Q436Q(1) breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1) 15 ATCAGGAGAGCTGGCAGAGGA 0.612000 16 73 0 0 0.028581 0 0 TAF1L 138474 broad.mit.edu 37 9 32631299 32631299 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr9:32631299G>T ENST00000242310.4 - 1 4368 c.4279C>A c.(4279-4281)Cca>Aca p.P1427T NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1427 Bromo 1. 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 p.P1427T(1) breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) GCATTGACTGGAGTGTGGAAA 0.478000 89 285 4.78148e-37 8.97577e-37 0.014410 1 0 PCDHA6 56142 broad.mit.edu 37 5 140209948 140209948 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr5:140209948G>T ENST00000529310.1 + 1 2386 c.2272G>T c.(2272-2274)Gtg>Ttg p.V758L PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 p.V758L(2) NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGGCAGAGGGTGTGCTCCGG 0.637000 12 43 2.80697e-09 3.8905e-09 0.010729 1 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Silent_p.S281S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 10 106 0 0 0.028581 0 0 OR10H4 126541 broad.mit.edu 37 19 16060156 16060156 + Silent SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr19:16060156C>A ENST00000322107.1 + 1 339 c.339C>A c.(337-339)tcC>tcA p.S113S NM_001004465.1 NP_001004465.1 Q8NGA5 O10H4_HUMAN olfactory receptor, family 10, subfamily H, member 4 113 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S113S(1) breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 17 TCACTCACTCCTTCCTTCTCC 0.532000 82 360 1.11057e-38 2.09949e-38 0.014410 1 0 FRAS1 80144 broad.mit.edu 37 4 79207579 79207579 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr4:79207579A>T ENST00000264895.6 + 14 1860 c.1420A>T c.(1420-1422)Acg>Tcg p.T474S FRAS1_ENST00000264899.6_Missense_Mutation_p.T474S|FRAS1_ENST00000325942.6_Missense_Mutation_p.T474S NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 474 cell communication integral to membrane|plasma membrane metal ion binding p.T474S(3) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 CCAGTGCTCCACGTGTACCAG 0.567000 21 150 0 0 0.021523 0 0 GIPC3 126326 broad.mit.edu 37 19 3589536 3589536 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr19:3589536G>T ENST00000322315.5 + 4 733 c.688G>T c.(688-690)Gcc>Tcc p.A230S NM_133261.2 NP_573568.1 Q8TF64 GIPC3_HUMAN GIPC PDZ domain containing family, member 3 230 p.A230S(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18) TGGGGGGGCTGCCACagtgga 0.597000 24 34 1.39806e-14 2.27343e-14 0.008361 1 0 TG 7038 broad.mit.edu 37 8 133906105 133906105 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr8:133906105C>T ENST00000220616.4 + 11 2972 c.2932C>T c.(2932-2934)Ccc>Tcc p.P978S TG_ENST00000377869.1_Missense_Mutation_p.P978S NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 978 Thyroglobulin type-1 8. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity p.P978S(1) NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 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) GCTCTTCCCGCCCCGGGAGGC 0.602000 8 184 0 0 0.004482 0 0 GRIN1 2902 broad.mit.edu 37 9 140058266 140058266 + Silent SNP C C A rs146086141 by1000genomes TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr9:140058266C>A ENST00000371561.3 + 18 3596 c.2499C>A c.(2497-2499)atC>atA p.I833I GRIN1_ENST00000371546.4_Silent_p.I854I|GRIN1_ENST00000371560.3_Silent_p.I854I|GRIN1_ENST00000371553.3_Silent_p.I854I|GRIN1_ENST00000371555.4_Silent_p.I854I|GRIN1_ENST00000315048.3_Silent_p.I833I|GRIN1_ENST00000371550.4_Silent_p.I833I|GRIN1_ENST00000371559.4_Silent_p.I833I|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000350902.5_Silent_p.I833I NM_007327.3 NP_015566.1 Q05586 NMDZ1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 1 833 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding p.I833I(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) TGATTTTCATCGAGATTGCCT 0.622000 24 86 1.33986e-20 2.34257e-20 0.024334 1 0 RYR2 6262 broad.mit.edu 37 1 237794762 237794762 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:237794762C>G ENST00000366574.2 + 42 6793 c.6476C>G c.(6475-6477)cCt>cGt p.P2159R RYR2_ENST00000360064.6_Missense_Mutation_p.P2157R|RYR2_ENST00000542537.1_Missense_Mutation_p.P2143R NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2159 4 X approximate repeats. 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 p.P2157S(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 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) TACCAGCACCCTAATCTCATG 0.458000 12 42 0 0 0.016723 0 0 BMP10 27302 broad.mit.edu 37 2 69093486 69093486 + Silent SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr2:69093486C>A ENST00000295379.1 - 2 710 c.552G>T c.(550-552)ctG>ctT p.L184L NM_014482.1 NP_055297.1 O95393 BMP10_HUMAN bone morphogenetic protein 10 184 activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis cell surface|extracellular space|Z disc cytokine activity|growth factor activity|receptor serine/threonine kinase binding p.L184L(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2) 27 ACACCAAGACCAGCATGTTTC 0.463000 14 99 4.3838e-07 5.57086e-07 0.016723 1 0 UNC13A 23025 broad.mit.edu 37 19 17759401 17759401 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr19:17759401G>T ENST00000428389.2 - 17 1918 c.1919C>A c.(1918-1920)aCg>aAg p.T640K UNC13A_ENST00000552293.1_Missense_Mutation_p.T552K|UNC13A_ENST00000252773.7_Missense_Mutation_p.T552K|UNC13A_ENST00000519716.2_Missense_Mutation_p.T552K|UNC13A_ENST00000551649.1_Missense_Mutation_p.T552K|UNC13A_ENST00000550896.1_Missense_Mutation_p.T550K Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 552 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding p.T552K(1)|p.T640K(1) breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 GTTGTGTGGCGTCGTGCACGA 0.617000 36 102 1.6237e-14 2.60864e-14 0.013114 1 0 ABCB7 22 broad.mit.edu 37 X 74273349 74273349 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:74273349C>G ENST00000253577.3 - 16 2142 c.2118G>C c.(2116-2118)tgG>tgC p.W706C ABCB7_ENST00000339447.4_Missense_Mutation_p.W665C|ABCB7_ENST00000373394.3_Missense_Mutation_p.W705C NM_001271696.1|NM_004299.3 NP_001258625.1|NP_004290.2 O75027 ABCB7_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 7 705 ABC transporter. cellular iron ion homeostasis integral to membrane|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity p.W706C(1) breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1) 20 TCTGTGTATGCCACATTTCTG 0.423000 6 40 0 0 0.021553 0 0 LONP1 9361 broad.mit.edu 37 19 5705941 5705941 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr19:5705941G>A ENST00000360614.3 - 8 1366 c.1209C>T c.(1207-1209)atC>atT p.I403I LONP1_ENST00000593119.1_Silent_p.I339I|LONP1_ENST00000590729.1_Silent_p.I273I|LONP1_ENST00000540670.2_Silent_p.I207I|LONP1_ENST00000585374.1_Silent_p.I289I NM_004793.2 NP_004784.2 P36776 LONM_HUMAN lon peptidase 1, mitochondrial 403 cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding p.I403I(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GCTCCTTCTTGATGATCTTTA 0.597000 42 153 0 0 0.014410 0 0 VGLL1 51442 broad.mit.edu 37 X 135618242 135618242 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:135618242G>A ENST00000370634.3 + 2 233 c.63G>A c.(61-63)acG>acA p.T21T NM_016267.3 NP_057351.1 Q99990 VGLL1_HUMAN vestigial like 1 (Drosophila) 21 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus transcription coactivator activity p.T21T(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(192;0.000127) CTATAAAGACGGAATGGAATT 0.493000 6 115 0 0 0.003080 0 0 AKNAD1 254268 broad.mit.edu 37 1 109395169 109395169 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:109395169C>A ENST00000370001.3 - 2 386 c.118G>T c.(118-120)Ggc>Tgc p.G40C AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369995.3_Missense_Mutation_p.G40C|AKNAD1_ENST00000369994.1_Missense_Mutation_p.G40C NM_152763.4 NP_689976.2 Q5T1N1 AKND1_HUMAN AKNA domain containing 1 40 p.G40C(1) breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2) 32 ACTTCAAGGCCATCCTTTTTT 0.403000 26 149 7.38237e-10 1.03392e-09 0.006320 1 0 SLA2 84174 broad.mit.edu 37 20 35262953 35262953 + Missense_Mutation SNP G G A rs145656453 byFrequency TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr20:35262953G>A ENST00000262866.4 - 3 553 c.131C>T c.(130-132)cCg>cTg p.P44L SLA2_ENST00000360672.2_Missense_Mutation_p.P44L NM_032214.3|NM_175077.2 NP_115590.1|NP_778252.1 Q9H6Q3 SLAP2_HUMAN Src-like-adaptor 2 44 SH3. antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane protein N-terminus binding|SH3/SH2 adaptor activity p.P44L(1) endometrium(1)|lung(2)|skin(2) 5 Breast(12;0.114) Myeloproliferative disorder(115;0.00878) GCCACCTGCCGGGAAACTGCC 0.567000 4 54 0 0 0.021553 0 0 DOCK10 55619 broad.mit.edu 37 2 225688308 225688308 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr2:225688308G>T ENST00000409592.3 - 28 3188 c.3075C>A c.(3073-3075)gtC>gtA p.V1025V DOCK10_ENST00000258390.7_Silent_p.V1031V Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1031 GTP binding p.V1029V(1) NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) ATAGGACCATGACAAGATTGT 0.413000 17 91 1.67942e-08 2.26319e-08 0.006122 1 0 C2CD5 9847 broad.mit.edu 37 12 22676358 22676358 + Splice_Site SNP A A C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr12:22676358A>C ENST00000333957.4 - 7 1056 c.e7+1 C2CD5_ENST00000545552.1_Splice_Site|C2CD5_ENST00000446597.1_Splice_Site|C2CD5_ENST00000544930.1_Splice_Site|C2CD5_ENST00000536386.1_Splice_Site|C2CD5_ENST00000542676.1_Splice_Site|C2CD5_ENST00000396028.2_Splice_Site|C2CD5_ENST00000540703.1_Splice_Site NM_014802.1 NP_055617.1 C2 calcium-dependent domain containing 5 p.?(2) ATTCATACTTACTCCTTCATT 0.363000 8 70 0 0 0.004482 0 0 CHD8 57680 broad.mit.edu 37 14 21870599 21870599 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr14:21870599G>A ENST00000399982.2 - 18 3842 c.3778C>T c.(3778-3780)Cgt>Tgt p.R1260C CHD8_ENST00000430710.3_Missense_Mutation_p.R981C|CHD8_ENST00000557364.1_Missense_Mutation_p.R1260C|CHD8_ENST00000555962.1_5'UTR NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 1260 Helicase C-terminal. 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 p.R1260C(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) TAGGAATTACGAGTGATGAGG 0.473000 4 75 0 0 0.009096 0 0 IGFBP3 3486 broad.mit.edu 37 7 45957004 45957004 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr7:45957004G>T ENST00000275521.6 - 2 571 c.438C>A c.(436-438)gcC>gcA p.A146A IGFBP3_ENST00000465642.1_5'UTR|IGFBP3_ENST00000381083.4_Silent_p.A152A|IGFBP3_ENST00000381086.5_Silent_p.A49A NM_000598.4|NM_001013398.1 NP_000589.2|NP_001013416.1 P17936 IBP3_HUMAN insulin-like growth factor binding protein 3 146 Ser/Thr-rich. negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth nucleus insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity p.A146A(1) large_intestine(6)|lung(7)|pancreas(1)|prostate(3) 17 Mecasermin(DB01277) CCACACTGCCGGCGCTGCGGT 0.498000 OREG0018049 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 109 2.94398e-08 3.93758e-08 0.007413 1 0 HSP90AA1 3320 broad.mit.edu 37 14 102549392 102549392 + Missense_Mutation SNP T T C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr14:102549392T>C ENST00000334701.7 - 10 2381 c.2100A>G c.(2098-2100)atA>atG p.I700M HSP90AA1_ENST00000441629.2_Missense_Mutation_p.I399M|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.I578M NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 578 Required for homodimerization. axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding p.I700M(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) TTTTCTCCAATatgtctttca 0.373000 20 63 0 0 0.010504 0 0 ZNF445 353274 broad.mit.edu 37 3 44489616 44489616 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr3:44489616C>G ENST00000425708.2 - 7 1888 c.1547G>C c.(1546-1548)aGg>aCg p.R516T ZNF445_ENST00000396077.2_Missense_Mutation_p.R516T P59923 ZN445_HUMAN zinc finger protein 445 516 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R516T(1) breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3) 31 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) CCCACACACCCTACATTTAAA 0.448000 7 140 0 0 0.008291 0 0 RFT1 91869 broad.mit.edu 37 3 53160012 53160012 + Splice_Site SNP T T A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr3:53160012T>A ENST00000296292.3 - 2 125 c.e2-2 RFT1_ENST00000394738.3_Splice_Site NM_052859.3 NP_443091.1 Q96AA3 RFT1_HUMAN RFT1 homolog (S. cerevisiae) carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane lipid transporter activity p.?(1) NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2) 12 BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104) AAACAACACCTATAGAAAAAG 0.368000 4 23 0 0 0.009096 0 0 CDH9 1007 broad.mit.edu 37 5 26881265 26881265 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr5:26881265C>A ENST00000231021.4 - 12 2522 c.2350G>T c.(2350-2352)Gat>Tat p.D784Y NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 784 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D784Y(1) breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 TCACTATCATCACCCCCATAC 0.418000 36 204 6.2361e-21 1.09747e-20 0.007835 1 0 TRIM9 114088 broad.mit.edu 37 14 51489622 51489622 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr14:51489622G>T ENST00000298355.3 - 3 2093 c.972C>A c.(970-972)atC>atA p.I324I TRIM9_ENST00000360392.4_Silent_p.I324I|TRIM9_ENST00000338969.5_Silent_p.I324I NM_015163.5 NP_055978.4 Q9C026 TRIM9_HUMAN tripartite motif containing 9 324 proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding p.I324I(2) breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_epithelial(31;0.00418)|Breast(41;0.148) TGAGGGCATCGATGAGGGCAT 0.537000 8 120 0.00829132 0.00874922 0.008291 1 0 YLPM1 56252 broad.mit.edu 37 14 75265213 75265213 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr14:75265213G>T ENST00000325680.7 + 5 3337 c.3213G>T c.(3211-3213)aaG>aaT p.K1071N YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.K876N NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 876 Arg-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck p.K1071N(1)|p.K876N(1) breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) GTCGAGAGAAGATGAACAGAG 0.557000 18 97 5.3912e-06 6.52555e-06 0.006122 1 0 BTBD3 22903 broad.mit.edu 37 20 11903469 11903469 + Nonsense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr20:11903469C>T ENST00000405977.1 + 5 1349 c.724C>T c.(724-726)Cag>Tag p.Q242* BTBD3_ENST00000378226.2_Nonsense_Mutation_p.Q242*|BTBD3_ENST00000399006.2_Nonsense_Mutation_p.Q181*|BTBD3_ENST00000254977.3_Nonsense_Mutation_p.Q181*|BTBD3_ENST00000488503.1_3'UTR Q9Y2F9 BTBD3_HUMAN BTB (POZ) domain containing 3 242 p.Q242*(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2) 34 AGACCTGACCCAGCGTTGCTG 0.537000 21 92 0 0 0.012319 0 0 FAM13B 51306 broad.mit.edu 37 5 137346774 137346774 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr5:137346774G>A ENST00000033079.3 - 6 1064 c.613C>T c.(613-615)Ctg>Ttg p.L205L FAM13B_ENST00000425075.2_Silent_p.L87L|FAM13B_ENST00000420893.2_Silent_p.L205L NM_016603.2 NP_057687.2 Q9NYF5 FA13B_HUMAN family with sequence similarity 13, member B 205 Glu-rich.|Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.L87L(1)|p.L205L(1) endometrium(4)|kidney(2)|lung(5) 11 TAGTTTTCCAGAAGTCCAGCC 0.348000 15 122 0 0 0.020292 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125660630 125660630 + Missense_Mutation SNP T T C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr2:125660630T>C ENST00000431078.1 + 22 3969 c.3605T>C c.(3604-3606)aTg>aCg p.M1202T NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 1202 cell adhesion|signal transduction integral to membrane receptor binding p.M1202T(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) TGTGGCTTCATGGTGGACTCA 0.532000 3 17 0 0 0.009096 0 0 BAI3 577 broad.mit.edu 37 6 70034795 70034795 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr6:70034795A>T ENST00000370598.1 + 21 3667 c.2846A>T c.(2845-2847)cAc>cTc p.H949L BAI3_ENST00000238918.8_Missense_Mutation_p.H155L NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 949 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.H949R(1)|p.H949L(1) NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) GCATTTTTGCACTTTTTCTTC 0.423000 19 85 0 0 0.010504 0 0 PPAN-P2RY11 692312 broad.mit.edu 37 19 10220370 10220370 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr19:10220370G>T ENST00000428358.1 + 6 749 c.577G>T c.(577-579)Gac>Tac p.D193Y PPAN_ENST00000393793.1_Missense_Mutation_p.D140Y|PPAN_ENST00000253107.7_Missense_Mutation_p.D193Y|PPAN_ENST00000556468.1_Missense_Mutation_p.D193Y|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.D193Y NM_001040664.2|NM_001198690.1 NP_001035754.1|NP_001185619.1 Q9NQ55 SSF1_HUMAN 193 Brix. RNA splicing nucleolus protein binding p.D193Y(2) breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 31 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) CCAGGAGCTGGACTTCCGCCA 0.607000 73 151 1.43872e-54 2.75884e-54 0.014410 1 0 ATL1 51062 broad.mit.edu 37 14 51058280 51058280 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr14:51058280G>A ENST00000441560.2 + 5 926 c.445G>A c.(445-447)Gga>Aga p.G149R ATL1_ENST00000358385.6_Missense_Mutation_p.G149R|ATL1_ENST00000357032.3_Missense_Mutation_p.G149R|ATL1_ENST00000354525.4_Missense_Mutation_p.G149R NM_001127713.1 NP_001121185.1 Q8WXF7 ATLA1_HUMAN atlastin GTPase 1 149 axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome GTP binding|GTPase activity|identical protein binding p.G149R(1) central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3) 18 GGATACTCAGGGAACCTTTGA 0.358000 5 132 0 0 0.021553 0 0 CDRT1 374286 broad.mit.edu 37 17 15499942 15499942 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr17:15499942C>T ENST00000455584.2 - 15 2563 c.2520G>A c.(2518-2520)acG>acA p.T840T CDRT1_ENST00000354433.3_Silent_p.T30T|CDRT1_ENST00000583965.1_Silent_p.T30T|CDRT1_ENST00000395906.3_Silent_p.T530T p.T30T(2)|p.T530T(2) TGTGTCTAAACGTCTTCAGGC 0.507000 5 47 0 0 0.021553 0 0 DRD2 1813 broad.mit.edu 37 11 113285168 113285168 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr11:113285168G>T ENST00000362072.3 - 6 1083 c.739C>A c.(739-741)Ccc>Acc p.P247T DRD2_ENST00000544518.1_Missense_Mutation_p.P246T|DRD2_ENST00000542968.1_Missense_Mutation_p.P247T|DRD2_ENST00000355319.2_Missense_Mutation_p.P247T|DRD2_ENST00000346454.3_Intron|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000538967.1_Missense_Mutation_p.P247T NM_000795.3 NP_000786.1 P14416 DRD2_HUMAN dopamine receptor D2 247 Interaction with PPP1R9B (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding p.P247N(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) ATGTCCTCGGGGTGAGTACAG 0.562000 42 208 9.14704e-12 1.38239e-11 0.008740 1 0 PCDHB7 56129 broad.mit.edu 37 5 140553151 140553151 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr5:140553151G>A ENST00000231137.3 + 1 909 c.735G>A c.(733-735)tcG>tcA p.S245S NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 245 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.S245S(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTGTGCGGTCGCTCTACAAGG 0.542000 20 112 0 0 0.007413 0 0 SYNE2 23224 broad.mit.edu 37 14 64557634 64557634 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr14:64557634G>T ENST00000357395.3 + 61 12143 c.999G>T c.(997-999)gtG>gtT p.V333V SYNE2_ENST00000555002.1_Silent_p.V582V|SYNE2_ENST00000554584.1_Silent_p.V3981V|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Silent_p.V333V|SYNE2_ENST00000358025.3_Silent_p.V3948V|SYNE2_ENST00000344113.4_Silent_p.V3948V Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 3948 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 p.V3948V(1) NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CTGAGATAGTGTCTTACCAAG 0.383000 19 92 7.45023e-12 1.13882e-11 0.010504 1 0 GPR64 10149 broad.mit.edu 37 X 19046303 19046303 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:19046303G>T ENST00000354791.3 - 9 605 c.364C>A c.(364-366)Cag>Aag p.Q122K GPR64_ENST00000379876.1_Missense_Mutation_p.Q114K|GPR64_ENST00000357544.3_Missense_Mutation_p.Q108K|GPR64_ENST00000360279.4_Missense_Mutation_p.Q116K|GPR64_ENST00000340581.3_Missense_Mutation_p.Q108K|GPR64_ENST00000357991.3_Missense_Mutation_p.Q135K|GPR64_ENST00000379878.3_Missense_Mutation_p.Q122K|GPR64_ENST00000379869.3_Missense_Mutation_p.Q138K|GPR64_ENST00000379873.2_Missense_Mutation_p.Q138K|GPR64_ENST00000356606.4_Missense_Mutation_p.Q124K Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 138 neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity p.Q135K(1) breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1) 42 Hepatocellular(33;0.183) AAACTTACCTGGGGAACAGTG 0.254000 15 70 0.000422831 0.000473253 0.028581 1 0 APOB 338 broad.mit.edu 37 2 21255418 21255418 + Missense_Mutation SNP T T G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr2:21255418T>G ENST00000233242.1 - 10 1287 c.1160A>C c.(1159-1161)cAg>cCg p.Q387P APOB_ENST00000399256.4_Missense_Mutation_p.Q387P NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 387 Vitellogenin. 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 p.Q387T(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GCACTGAGGCTGTCCACACTG 0.507000 12 51 0 0 0.013537 0 0 GULP1 51454 broad.mit.edu 37 2 189406035 189406035 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr2:189406035G>T ENST00000409580.1 + 8 1103 c.389G>T c.(388-390)aGc>aTc p.S130I GULP1_ENST00000409830.1_Missense_Mutation_p.S130I|GULP1_ENST00000359135.3_Missense_Mutation_p.S130I|GULP1_ENST00000409843.1_Missense_Mutation_p.S130I|GULP1_ENST00000409637.3_Missense_Mutation_p.S130I|GULP1_ENST00000409805.1_Intron|GULP1_ENST00000410051.1_Missense_Mutation_p.S130I|GULP1_ENST00000479019.1_3'UTR|GULP1_ENST00000409609.1_Missense_Mutation_p.S130I Q9UBP9 GULP1_HUMAN GULP, engulfment adaptor PTB domain containing 1 130 PID. apoptosis|lipid transport|phagocytosis, engulfment cytoplasm|intracellular membrane-bounded organelle signal transducer activity p.S130I(1) endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158) GTATTTGACAGCGAAAAGTGT 0.348000 17 134 2.35188e-11 3.48548e-11 0.006122 1 0 TFDP2 7029 broad.mit.edu 37 3 141671484 141671484 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr3:141671484G>A ENST00000499676.2 - 13 1703 c.1032C>T c.(1030-1032)ttC>ttT p.F344F TFDP2_ENST00000317104.7_Silent_p.F328F|TFDP2_ENST00000495310.1_Silent_p.F307F|TFDP2_ENST00000310282.6_Silent_p.F344F|TFDP2_ENST00000489671.1_Silent_p.F404F|TFDP2_ENST00000486111.1_Silent_p.F344F|TFDP2_ENST00000479040.1_Silent_p.F343F|TFDP2_ENST00000477292.1_Silent_p.F268F|TFDP2_ENST00000467072.1_Silent_p.F344F|TFDP2_ENST00000397991.4_Silent_p.F376F NM_001178139.1 NP_001171610.1 Q14188 TFDP2_HUMAN transcription factor Dp-2 (E2F dimerization partner 2) 404 cell cycle transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding p.G402fs*22(1)|p.F404F(1) kidney(1)|upper_aerodigestive_tract(2) 3 TTGGGGCCAGGAACTGCCCAG 0.502000 12 84 0 0 0.010729 0 0 MUSK 4593 broad.mit.edu 37 9 113510054 113510054 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr9:113510054A>T ENST00000416899.2 + 7 1013 c.887A>T c.(886-888)aAg>aTg p.K296M MUSK_ENST00000374448.4_Missense_Mutation_p.K296M|MUSK_ENST00000189978.5_Missense_Mutation_p.K296M O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase 296 Ig-like 3. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity p.K296M(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 AGTACTGCCAAGGCTGCAGCC 0.488000 18 46 0 0 0.012319 0 0 USH2A 7399 broad.mit.edu 37 1 216011423 216011423 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:216011423G>T ENST00000366943.2 - 47 9667 c.9281C>A c.(9280-9282)gCc>gAc p.A3094D USH2A_ENST00000307340.3_Missense_Mutation_p.A3094D O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3094 Fibronectin type-III 17. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.A3094D(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTTCACGCAGGCATATATTGT 0.378000 HNSCC(13;0.011) 22 179 1.55795e-14 2.51055e-14 0.012319 1 0 TMTC1 83857 broad.mit.edu 37 12 29669316 29669316 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr12:29669316G>A ENST00000256062.5 - 15 2422 c.1949C>T c.(1948-1950)tCa>tTa p.S650L TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000551659.1_Missense_Mutation_p.S820L|TMTC1_ENST00000539277.1_Missense_Mutation_p.S758L|TMTC1_ENST00000552618.1_Missense_Mutation_p.S782L NM_175861.3 NP_787057.2 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 758 integral to membrane binding breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) ATAGATGGCTGACAAGAGGCG 0.453000 5 142 0 0 0.014758 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43624985 43624985 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr9:43624985C>A ENST00000332857.6 - 4 3730 c.3702G>T c.(3700-3702)aaG>aaT p.K1234N NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 p.K1234N(1) GGGCTTGAAACTTCTGTTTGT 0.502000 38 304 9.73076e-26 1.76473e-25 0.027894 1 0 ARID5A 10865 broad.mit.edu 37 2 97217674 97217674 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr2:97217674A>T ENST00000454558.2 + 7 2382 c.1205A>T c.(1204-1206)gAt>gTt p.D402V ARID5A_ENST00000357485.3_Missense_Mutation_p.D470V Q03989 ARI5A_HUMAN AT rich interactive domain 5A (MRF1-like) 470 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding p.D470V(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2) 14 AAGGAGGCGGATGCCAAGAAG 0.672000 9 30 0 0 0.008291 0 0 KCTD3 51133 broad.mit.edu 37 1 215792539 215792539 + Nonsense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:215792539C>T ENST00000259154.4 + 17 2086 c.1792C>T c.(1792-1794)Caa>Taa p.Q598* KCTD3_ENST00000495537.1_3'UTR NM_016121.3 NP_057205.2 Q9Y597 KCTD3_HUMAN potassium channel tetramerization domain containing 3 598 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity p.Q598*(1) breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1) 33 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) ATTACTCGATCAATGTGATTT 0.408000 6 151 0 0 0.001984 0 0 PIWIL3 440822 broad.mit.edu 37 22 25121445 25121445 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr22:25121445C>G ENST00000332271.5 - 17 2490 c.2074G>C c.(2074-2076)Gag>Cag p.E692Q PIWIL3_ENST00000533313.1_Missense_Mutation_p.E574Q|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.E574Q NM_001008496.3|NM_001255975.1 NP_001008496.2|NP_001242904.1 Q7Z3Z3 PIWL3_HUMAN piwi-like RNA-mediated gene silencing 3 692 Piwi. cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding p.E692Q(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TTCACAAGCTCTTCTCCTGTT 0.438000 17 116 0 0 0.004990 0 0 ILDR2 387597 broad.mit.edu 37 1 166892002 166892002 + Missense_Mutation SNP T T A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:166892002T>A ENST00000271417.3 - 8 1094 c.1039A>T c.(1039-1041)Agc>Tgc p.S347C ILDR2_ENST00000528703.1_Missense_Mutation_p.S288C|ILDR2_ENST00000529071.1_Missense_Mutation_p.S328C|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000469934.2_Missense_Mutation_p.S347C|ILDR2_ENST00000525740.1_Missense_Mutation_p.S220C|ILDR2_ENST00000526687.1_Missense_Mutation_p.S239C NM_199351.2 NP_955383.1 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 2 347 integral to membrane p.S347C(1) NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 CGGAAATTGCTGTCCTCCTCA 0.478000 27 239 0 0 0.008361 0 0 DNAH9 1770 broad.mit.edu 37 17 11554419 11554419 + Nonsense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr17:11554419G>T ENST00000262442.3 + 13 2199 c.2131G>T c.(2131-2133)Gaa>Taa p.E711* DNAH9_ENST00000454412.2_Nonsense_Mutation_p.E711* NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 711 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 p.E711*(1) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 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) GAGCTATCTTGAACCCAGAGA 0.438000 45 163 8.00217e-19 1.37658e-18 0.014410 1 0 GPRASP1 9737 broad.mit.edu 37 X 101910161 101910161 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:101910161G>T ENST00000537097.1 + 6 2133 c.1320G>T c.(1318-1320)tgG>tgT p.W440C RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.W440C|GPRASP1_ENST00000361600.5_Missense_Mutation_p.W440C|GPRASP1_ENST00000444152.1_Missense_Mutation_p.W440C NM_001184727.1 NP_001171656.1 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting protein 1 440 cytoplasm protein binding p.W440F(1) NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 GTTGGTTCTGGACTGAAGAAG 0.517000 20 202 1.15919e-05 1.3843e-05 0.008871 1 0 SLC27A6 28965 broad.mit.edu 37 5 128321030 128321030 + Splice_Site SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr5:128321030G>A ENST00000262462.4 + 2 1695 c.e2+1 SLC27A6_ENST00000395266.1_Splice_Site|SLC27A6_ENST00000506176.1_Splice_Site Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 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 p.?(1) NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 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) GGAACAACAGGTATGATCCAA 0.438000 10 39 0 0 0.008291 0 0 EPHA3 2042 broad.mit.edu 37 3 89445045 89445045 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr3:89445045G>C ENST00000336596.2 + 6 1590 c.1365G>C c.(1363-1365)ttG>ttC p.L455F EPHA3_ENST00000452448.2_Missense_Mutation_p.L455F|EPHA3_ENST00000494014.1_Missense_Mutation_p.L455F NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 455 Fibronectin type-III 2. extracellular region|integral to plasma membrane ATP binding p.L455F(2) NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 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) GCATCTCTTTGTCCTGGCAAG 0.453000 TSP Lung(6;0.00050) 48 242 0 0 0.014410 0 0 OR2T34 127068 broad.mit.edu 37 1 248737364 248737364 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:248737364C>A ENST00000328782.2 - 1 716 c.695G>T c.(694-696)aGg>aTg p.R232M NM_001001821.1 NP_001001821.1 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, member 34 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R232M(1) breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3) 43 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) AGAATTCATCCTGTGGATGAG 0.547000 28 145 2.4375e-19 4.20665e-19 0.007291 1 0 IGFN1 91156 broad.mit.edu 37 1 201195156 201195156 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:201195156G>T ENST00000335211.4 + 22 10821 c.10691G>T c.(10690-10692)gGc>gTc p.G3564V IGFN1_ENST00000295591.8_3'UTR NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 p.G3564V(1)|p.G724V(1) autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 ATCCTCCCCGGCCACGAATAC 0.667000 11 48 6.72482e-11 9.77658e-11 0.024245 1 0 HOXA3 3200 broad.mit.edu 37 7 27149789 27149789 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr7:27149789G>T ENST00000396352.4 - 2 670 c.471C>A c.(469-471)ccC>ccA p.P157P HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Silent_p.P157P NM_030661.4 NP_109377.1 O43365 HXA3_HUMAN homeobox A3 157 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P157P(1) breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1) 29 CTTTCATCCAGGGGAAGATTT 0.572000 23 188 5.60225e-13 8.84131e-13 0.009535 1 0 ERMN 57471 broad.mit.edu 37 2 158181913 158181913 + Splice_Site SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr2:158181913C>A ENST00000410096.1 - 1 533 c.e1+1 ERMN_ENST00000409925.1_Splice_Site|ERMN_ENST00000397283.2_Splice_Site|ERMN_ENST00000420719.2_Splice_Site|ERMN_ENST00000409216.1_Splice_Site NM_020711.1 NP_065762.1 Q8TAM6 ERMIN_HUMAN ermin, ERM-like protein cytoplasm|cytoskeleton p.?(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 AAACACTTTACCTTTTAGCAT 0.378000 13 96 6.81908e-15 1.11566e-14 0.020292 1 0 NEB 4703 broad.mit.edu 37 2 152387542 152387542 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr2:152387542A>T ENST00000427231.2 - 145 21798 c.21596T>A c.(21595-21597)cTg>cAg p.L7199Q NEB_ENST00000409198.1_Missense_Mutation_p.L5498Q|NEB_ENST00000172853.10_Missense_Mutation_p.L5498Q|NEB_ENST00000603639.1_Missense_Mutation_p.L7199Q|NEB_ENST00000604864.1_Missense_Mutation_p.L7199Q|NEB_ENST00000397345.3_Missense_Mutation_p.L7199Q NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 5498 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle p.L7199Q(1)|p.L5498Q(1) NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GCGGACATGCAGCAACATGGG 0.423000 8 50 0 0 0.004482 0 0 GPR116 221395 broad.mit.edu 37 6 46826344 46826344 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr6:46826344C>A ENST00000283296.7 - 17 3584 c.3296G>T c.(3295-3297)aGc>aTc p.S1099I GPR116_ENST00000265417.7_Missense_Mutation_p.S1099I|GPR116_ENST00000362015.4_Missense_Mutation_p.S1099I|GPR116_ENST00000545669.1_Missense_Mutation_p.S528I|GPR116_ENST00000456426.2_Missense_Mutation_p.S957I NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 1099 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.S1099I(1) breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) GAAGAAGACGCTGAGGTAGAA 0.512000 5 45 0.00116845 0.00127315 0.021553 1 0 COL4A5 1287 broad.mit.edu 37 X 107842032 107842032 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:107842032C>T ENST00000328300.6 + 25 2124 c.1880C>T c.(1879-1881)cCt>cTt p.P627L COL4A5_ENST00000361603.2_Missense_Mutation_p.P627L NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 627 Triple-helical region. FGPP -> LALQ (in Ref. 5; AAA99480). axon guidance collagen type IV extracellular matrix structural constituent|protein binding p.P627L(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 GGTTTCGGCCCTCCAGGCCCA 0.517000 Alport syndrome with Diffuse Leiomyomatosis 12 120 0 0 0.020292 0 0 NF1 4763 broad.mit.edu 37 17 29653005 29653005 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr17:29653005G>T ENST00000358273.4 + 37 5386 c.5003G>T c.(5002-5004)gGc>gTc p.G1668V NF1_ENST00000356175.3_Missense_Mutation_p.G1647V|NF1_ENST00000581113.2_3'UTR NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1668 CRAL-TRIO. actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3)|p.G1668V(2) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) GTTTTTCCTGGCTTTGCTTAC 0.453000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 48 146 6.27289e-28 1.14539e-27 0.014410 1 0 FAM196A 642938 broad.mit.edu 37 10 128973656 128973656 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr10:128973656G>C ENST00000522781.1 - 4 1559 c.1004C>G c.(1003-1005)cCt>cGt p.P335R FAM196A_ENST00000424811.2_Missense_Mutation_p.P335R|DOCK1_ENST00000280333.6_Intron NM_001039762.2 NP_001034851.1 Q6ZSG2 F196A_HUMAN family with sequence similarity 196, member A 335 p.P335R(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 TGTGGGACTAGGCTGGTTCCC 0.597000 44 200 0 0 0.014410 0 0 IL21R 50615 broad.mit.edu 37 16 27445722 27445722 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr16:27445722G>T ENST00000337929.3 + 3 577 c.104G>T c.(103-105)tGc>tTc p.C35F IL21R_ENST00000395755.1_Missense_Mutation_p.C35F|IL21R_ENST00000395754.4_Missense_Mutation_p.C35F|IL21R_ENST00000564089.1_Missense_Mutation_p.C35F NM_181078.2 NP_851564.1 Q9HBE5 IL21R_HUMAN interleukin 21 receptor 35 natural killer cell activation integral to membrane interleukin-21 receptor activity p.C35F(1) breast(2)|large_intestine(3)|lung(1)|ovary(2) 8 ACGGTCATCTGCATCCTGGAA 0.637000 T BCL6 NHL 11 53 0.010729 0.0112329 0.010729 1 0 NETO2 81831 broad.mit.edu 37 16 47162416 47162416 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr16:47162416G>A ENST00000562435.1 - 4 685 c.301C>T c.(301-303)Cgg>Tgg p.R101W NETO2_ENST00000303155.5_Missense_Mutation_p.R101W NM_018092.4 NP_060562.3 Q8NC67 NETO2_HUMAN neuropilin (NRP) and tolloid (TLL)-like 2 101 CUB 1. integral to membrane receptor activity p.R101W(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 29 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) TGATCAAACCGACACTCAAAT 0.398000 HNSCC(25;0.065) 18 214 0 0 0.004990 0 0 JAK3 3718 broad.mit.edu 37 19 17943472 17943472 + Missense_Mutation SNP C C T rs1052526 TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr19:17943472C>T ENST00000458235.1 - 19 2635 c.2536G>A c.(2536-2538)Gac>Aac p.D846N JAK3_ENST00000527670.1_Missense_Mutation_p.D846N|JAK3_ENST00000534444.1_Missense_Mutation_p.D846N NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 846 Protein kinase 2. GD -> AH (in Ref. 1; AAA19626). B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.D846N(1) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 CCTGTATTGTCGCCTAGCGGG 0.617000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 10 187 0 0 0.010729 0 0 C10orf12 26148 broad.mit.edu 37 10 98741739 98741739 + Missense_Mutation SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr10:98741739G>C ENST00000286067.2 + 1 699 c.592G>C c.(592-594)Ggt>Cgt p.G198R NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 198 p.G198R(1) NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) CTTTTTCAATGGTGACTGTTG 0.418000 24 102 0 0 0.016522 0 0 MS4A5 64232 broad.mit.edu 37 11 60197159 60197159 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr11:60197159C>A ENST00000300190.2 + 1 98 c.12C>A c.(10-12)agC>agA p.S4R MS4A5_ENST00000534071.1_3'UTR NM_023945.2 NP_076434.2 Q9H3V2 MS4A5_HUMAN membrane-spanning 4-domains, subfamily A, member 5 4 integral to membrane receptor activity p.S4R(1) large_intestine(7)|lung(7)|ovary(1)|skin(1) 16 TGGATTCAAGCACCGCACACA 0.453000 30 178 4.02929e-09 5.5702e-09 0.010818 1 0 RYR1 6261 broad.mit.edu 37 19 39075606 39075606 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr19:39075606G>T ENST00000355481.4 + 101 14786 c.14655G>T c.(14653-14655)gtG>gtT p.V4885V RYR1_ENST00000360985.3_Silent_p.V4885V|RYR1_ENST00000359596.3_Silent_p.V4890V NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 4890 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 p.V4890V(1) NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) ACATGTACGTGGGTGTCCGGG 0.577000 35 77 1.66425e-11 2.48708e-11 0.021022 1 0 IL23R 149233 broad.mit.edu 37 1 67685289 67685289 + Silent SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:67685289G>T ENST00000347310.5 + 7 1002 c.831G>T c.(829-831)gtG>gtT p.V277V IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000371002.1_Silent_p.V277V|C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000395227.1_Silent_p.V22V NM_144701.2 NP_653302.2 Q5VWK5 IL23R_HUMAN interleukin 23 receptor 277 Fibronectin type-III 2. inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide interleukin-23 receptor complex receptor activity p.V277V(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 21 TTACATATGTGCAACAGTCAG 0.343000 26 72 5.45024e-15 8.94441e-15 0.018920 1 0 NPAP1 23742 broad.mit.edu 37 15 24921196 24921196 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr15:24921196C>A ENST00000329468.2 + 1 656 c.182C>A c.(181-183)gCa>gAa p.A61E NM_018958.2 NP_061831.2 nuclear pore associated protein 1 p.A61E(1) AGGCCTTCAGCAGCCAGCATC 0.736000 5 26 0.00448238 0.00479615 0.004482 1 0 TTC17 55761 broad.mit.edu 37 11 43413371 43413371 + Splice_Site SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr11:43413371G>T ENST00000039989.4 + 5 546 c.531_splice c.e5-1 p.G178_splice RP11-484D2.4_ENST00000394183.2_RNA|TTC17_ENST00000299240.6_Splice_Site_p.G178_splice NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 178 binding p.G178C(1) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 TTCTCTTCAGGGTGTACAGGA 0.318000 5 73 0.00116845 0.00127315 0.021553 1 0 GLI3 2737 broad.mit.edu 37 7 42088288 42088288 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr7:42088288C>A ENST00000395925.3 - 5 565 c.481G>T c.(481-483)Gcc>Tcc p.A161S GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 161 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A161S(1) NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 CTAGATAAGGCGGAAGTCCTG 0.498000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 10 42 2.17888e-05 2.56762e-05 0.006214 1 0 TRPM2 7226 broad.mit.edu 37 21 45825813 45825813 + Missense_Mutation SNP G G T rs147919263 TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr21:45825813G>T ENST00000397928.1 + 18 3128 c.2683G>T c.(2683-2685)Ggg>Tgg p.G895W TRPM2_ENST00000300481.9_Missense_Mutation_p.G875W|TRPM2_ENST00000397932.2_Missense_Mutation_p.G895W|TRPM2_ENST00000300482.5_Missense_Mutation_p.G895W|TRPM2_ENST00000498430.1_3'UTR NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 895 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity p.G895W(1) breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 GCTGTACCCCGGGCGCGTCAT 0.617000 42 180 6.68952e-21 1.17341e-20 0.013114 1 0 SLC32A1 140679 broad.mit.edu 37 20 37353584 37353584 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr20:37353584G>A ENST00000217420.1 + 1 480 c.217G>A c.(217-219)Gag>Aag p.E73K NM_080552.2 NP_542119.1 Q9H598 VIAAT_HUMAN solute carrier family 32 (GABA vesicular transporter), member 1 73 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity p.E73K(1) breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) CTGCGGGGACGAGGGCGCTGA 0.677000 12 88 0 0 0.024245 0 0 MS4A1 931 broad.mit.edu 37 11 60229879 60229879 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr11:60229879C>A ENST00000534668.1 + 2 321 c.32C>A c.(31-33)aCt>aAt p.T11N MS4A1_ENST00000345732.4_Missense_Mutation_p.T11N|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000389939.2_Missense_Mutation_p.T11N|MS4A1_ENST00000528313.1_Missense_Mutation_p.T11N|MS4A1_ENST00000532073.1_Missense_Mutation_p.T11N NM_152866.2 NP_690605.1 P11836 CD20_HUMAN membrane-spanning 4-domains, subfamily A, member 1 11 B cell activation|immune response integral to plasma membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081) GTAAATGGGACTTTCCCGGCA 0.433000 11 100 3.07112e-06 3.75125e-06 0.010729 1 0 NAT10 55226 broad.mit.edu 37 11 34160792 34160792 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr11:34160792G>T ENST00000257829.3 + 22 2472 c.2266G>T c.(2266-2268)Gat>Tat p.D756Y NAT10_ENST00000531159.2_Missense_Mutation_p.D684Y|NAT10_ENST00000527971.1_Intron NM_024662.2 NP_078938.2 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 (GCN5-related) 756 Required for localization to the nucleolus and midbody. nucleolus ATP binding|N-acetyltransferase activity|protein binding p.D756Y(1) endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) CACTGATGAGGATGAGGCTGA 0.557000 21 121 4.26978e-12 6.58309e-12 0.018920 1 0 ARHGEF12 23365 broad.mit.edu 37 11 120308016 120308016 + Splice_Site SNP G G C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr11:120308016G>C ENST00000397843.2 + 12 1090 c.e12-1 ARHGEF12_ENST00000356641.3_Splice_Site|ARHGEF12_ENST00000532993.1_Splice_Site NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) TTTTTCATTAGAGTCCCAAGA 0.348000 T MLL AML 3 65 0 0 0.009096 0 0 SH3PXD2B 285590 broad.mit.edu 37 5 171766609 171766609 + Silent SNP T T A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr5:171766609T>A ENST00000311601.5 - 13 1670 c.1500A>T c.(1498-1500)tcA>tcT p.S500S SH3PXD2B_ENST00000519643.1_Intron NM_001017995.2 NP_001017995.1 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 500 adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding p.S500S(1) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CAGACATGTCTGAAGATGCCT 0.592000 33 156 0 0 0.019004 0 0 ADH1B 125 broad.mit.edu 37 4 100239987 100239987 + Translation_Start_Site SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr4:100239987C>A ENST00000394887.3 - 0 142 ADH1B_ENST00000504498.1_5'UTR|ADH1B_ENST00000305046.8_Missense_Mutation_p.E25D NM_000668.4 NP_000659.2 P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding p.E25D(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) CCTCCACATCCTCAATGGAAA 0.368000 21 108 1.50039e-11 2.24848e-11 0.012319 1 0 CCDC146 57639 broad.mit.edu 37 7 76891577 76891577 + Missense_Mutation SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr7:76891577G>A ENST00000285871.4 + 9 1253 c.1126G>A c.(1126-1128)Gat>Aat p.D376N CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Missense_Mutation_p.D122N NM_020879.2 NP_065930.2 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 376 p.D376N(1) breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) AGTGTCCTGGGATGCACTTAG 0.408000 27 141 0 0 0.006320 0 0 PIK3CG 5294 broad.mit.edu 37 7 106509707 106509707 + Silent SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr7:106509707C>T ENST00000359195.3 + 2 2011 c.1701C>T c.(1699-1701)ctC>ctT p.L567L PIK3CG_ENST00000440650.2_Silent_p.L567L|PIK3CG_ENST00000496166.1_Silent_p.L567L NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 567 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 p.L567L(1) breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 TTAACCCTCTCACAGCAGAGG 0.502000 24 90 0 0 0.016522 0 0 ZBED4 9889 broad.mit.edu 37 22 50277987 50277987 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr22:50277987C>G ENST00000216268.4 + 2 1154 c.677C>G c.(676-678)tCt>tGt p.S226C NM_014838.2 NP_055653.2 O75132 ZBED4_HUMAN zinc finger, BED-type containing 4 226 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity p.S226C(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) ACAGAGGAGTCTGTGTCTGTA 0.557000 15 103 0 0 0.028581 0 0 TGM4 7047 broad.mit.edu 37 3 44943081 44943081 + Silent SNP A A C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr3:44943081A>C ENST00000296125.4 + 7 791 c.723A>C c.(721-723)acA>acC p.T241T NM_003241.3 NP_003232.2 P49221 TGM4_HUMAN transglutaminase 4 241 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity p.T241T(1) NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) AAGGTGGCACAGCCCCATACA 0.592000 4 30 0 0 0.014758 0 0 FRMPD3 84443 broad.mit.edu 37 X 106765704 106765704 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:106765704G>T ENST00000276185.4 + 1 25 c.25G>T c.(25-27)Gtc>Ttc p.V9F FRMPD3-AS1_ENST00000415252.1_RNA Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 9 cytoskeleton p.V9F(1) breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 TAGCCAGAGGGTCCAGGACCG 0.577000 8 52 7.48243e-07 9.44127e-07 0.006214 1 0 MAP3K15 389840 broad.mit.edu 37 X 19398322 19398322 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:19398322C>A ENST00000338883.4 - 19 2504 c.2505G>T c.(2503-2505)tgG>tgT p.W835C MAP3K15_ENST00000469203.2_Missense_Mutation_p.W667C|MAP3K15_ENST00000359173.3_Missense_Mutation_p.W270C|MAP3K15_ENST00000518578.1_5'UTR NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 835 Protein kinase. ATP binding|MAP kinase kinase kinase activity|metal ion binding p.W310C(1)|p.W882C(1) NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) AGCCCAGGGACCAGATATCGG 0.542000 6 21 2.17888e-05 2.56762e-05 0.006214 1 0 SLITRK5 26050 broad.mit.edu 37 13 88327846 88327846 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr13:88327846G>T ENST00000325089.6 + 2 422 c.203G>T c.(202-204)cGg>cTg p.R68L SLITRK5_ENST00000400028.3_Intron NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 68 integral to membrane p.R68L(2) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) TGTGAAAACCGGGGGATCATC 0.458000 69 261 1.72039e-30 3.1848e-30 0.014410 1 0 ADAMTS16 170690 broad.mit.edu 37 5 5146362 5146362 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr5:5146362C>A ENST00000274181.7 + 3 433 c.295C>A c.(295-297)Ctt>Att p.L99I CTD-2297D10.1_ENST00000514848.1_RNA|ADAMTS16_ENST00000511368.1_Missense_Mutation_p.L99I NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 99 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.L99I(2) breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 GTCTCTTCACCTTCGGCTGAA 0.562000 46 98 1.62263e-30 3.01425e-30 0.014410 1 0 FAM32A 26017 broad.mit.edu 37 19 16301759 16301759 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr19:16301759C>T ENST00000263384.7 + 4 357 c.332C>T c.(331-333)aCg>aTg p.T111M FAM32A_ENST00000588367.1_Missense_Mutation_p.T93M|FAM32A_ENST00000589852.1_Missense_Mutation_p.T91M NM_014077.2 NP_054796.1 Q9Y421 FA32A_HUMAN family with sequence similarity 32, member A 111 nucleolus p.T111M(1) lung(1) 1 GTCAGCTGGACGAAGTAGCCG 0.557000 7 64 0 0 0.003080 0 0 LIG1 3978 broad.mit.edu 37 19 48634422 48634422 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr19:48634422C>T ENST00000263274.7 - 19 2151 c.1732G>A c.(1732-1734)Gcc>Acc p.A578T LIG1_ENST00000536218.1_Missense_Mutation_p.A510T|LIG1_ENST00000427526.2_Missense_Mutation_p.A547T NM_000234.1 NP_000225.1 P18858 DNLI1_HUMAN ligase I, DNA, ATP-dependent 578 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding p.A578T(1) breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) CCTTCCAGGGCGTGGATCTGT 0.577000 Nucleotide excision repair (NER) 26 57 0 0 0.006320 0 0 MUC17 140453 broad.mit.edu 37 7 100683920 100683920 + Missense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr7:100683920A>T ENST00000306151.4 + 3 9287 c.9223A>T c.(9223-9225)Agt>Tgt p.S3075C NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3075 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.S3075C(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TGACTCCAACAGTCCTGTGGT 0.473000 88 210 0 0 0.014410 0 0 TYR 7299 broad.mit.edu 37 11 88911297 88911297 + Missense_Mutation SNP T T A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr11:88911297T>A ENST00000263321.5 + 1 678 c.176T>A c.(175-177)cTt>cAt p.L59H TYR_ENST00000526139.1_3'UTR NM_000372.4 NP_000363.1 P14679 TYRO_HUMAN tyrosinase 59 eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity p.L59H(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) CAGAATATCCTTCTGTCCAAT 0.547000 11 48 0 0 0.010729 0 0 SLITRK2 84631 broad.mit.edu 37 X 144904139 144904139 + Nonsense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:144904139C>T ENST00000370490.1 + 1 4451 c.196C>T c.(196-198)Cag>Tag p.Q66* SLITRK2_ENST00000434188.2_Nonsense_Mutation_p.Q66*|SLITRK2_ENST00000413937.2_Nonsense_Mutation_p.Q66*|SLITRK2_ENST00000428560.2_Nonsense_Mutation_p.Q66*|SLITRK2_ENST00000447897.2_Nonsense_Mutation_p.Q66* Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 66 integral to membrane p.Q66*(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) TCGAATCTATCAGCTTTTTCT 0.433000 26 157 0 0 0.024334 0 0 NUF2 83540 broad.mit.edu 37 1 163309231 163309231 + Silent SNP A A G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:163309231A>G ENST00000271452.3 + 8 849 c.570A>G c.(568-570)ctA>ctG p.L190L NUF2_ENST00000367900.3_Silent_p.L190L|NUF2_ENST00000524800.1_Silent_p.L190L NM_145697.2 NP_663735.2 Q9BZD4 NUF2_HUMAN NUF2, NDC80 kinetochore complex component 190 Interaction with the N-terminus of NDC80. cell division|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding p.L190L(2) breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 all_hematologic(923;0.101) TTCAGGAGCTACAACAATCAC 0.353000 5 61 0 0 0.014758 0 0 SEPT6 23157 broad.mit.edu 37 X 118783987 118783987 + Silent SNP G G A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:118783987G>A ENST00000394610.1 - 5 867 c.603C>T c.(601-603)atC>atT p.I201I SEPT6_ENST00000489216.1_Silent_p.I201I|SEPT6_ENST00000354228.4_Silent_p.I201I|SEPT6_ENST00000394617.2_Silent_p.I231I|SEPT6_ENST00000360156.7_Silent_p.I201I|SEPT6_ENST00000354416.3_Silent_p.I201I|SEPT6_ENST00000394616.4_Silent_p.I143I|SEPT6_ENST00000343984.5_Silent_p.I201I NM_145799.3 NP_665798.1 Q14141 SEPT6_HUMAN septin 6 201 cell cycle|cytokinesis|interspecies interaction between organisms cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle GTP binding|protein binding p.I201I(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3) 17 GCTCGCTGGTGATTTTGATTT 0.488000 T MLL AML 50 280 0 0 0.014410 0 0 DYTN 391475 broad.mit.edu 37 2 207527706 207527706 + Silent SNP T T C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr2:207527706T>C ENST00000452335.2 - 11 1670 c.1554A>G c.(1552-1554)agA>agG p.R518R NM_001093730.1 NP_001087199.1 A2CJ06 DYTN_HUMAN dystrotelin 518 plasma membrane zinc ion binding p.R518R(2) breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) GCTCATCCTTTCTCTCCTTGA 0.463000 10 162 0 0 0.010729 0 0 FSTL1 11167 broad.mit.edu 37 3 120122105 120122105 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr3:120122105G>T ENST00000295633.3 - 8 1034 c.678C>A c.(676-678)ttC>ttA p.F226L FSTL1_ENST00000424703.2_Missense_Mutation_p.F191L NM_007085.4 NP_009016.1 Q12841 FSTL1_HUMAN follistatin-like 1 226 EF-hand 2. BMP signaling pathway extracellular space calcium ion binding|heparin binding p.F226L(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1) 20 GBM - Glioblastoma multiforme(114;0.189) CAGGAGGGTTGAAAGATGGGT 0.448000 10 100 0.00829132 0.00874922 0.008291 1 0 STARD8 9754 broad.mit.edu 37 X 67937356 67937356 + Silent SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:67937356C>A ENST00000252336.6 + 5 732 c.360C>A c.(358-360)gcC>gcA p.A120A STARD8_ENST00000374597.3_Silent_p.A120A|STARD8_ENST00000374599.3_Silent_p.A200A NM_014725.4 NP_055540.2 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain containing 8 120 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity p.A120A(2)|p.A200A(1) NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 50 AGGACAAAGCCAAGAAGCGCC 0.632000 12 107 0.00136819 0.00148777 0.013537 1 0 DPYS 1807 broad.mit.edu 37 8 105436574 105436574 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr8:105436574C>A ENST00000351513.2 - 7 1268 c.1136G>T c.(1135-1137)aGc>aTc p.S379I NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 379 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding p.S379I(1) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) TGCATTTGTGCTGGTAACTGC 0.358000 7 119 0.00198382 0.00215282 0.001984 1 0 JAKMIP2 9832 broad.mit.edu 37 5 147040887 147040887 + Missense_Mutation SNP T T C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr5:147040887T>C ENST00000265272.5 - 3 718 c.251A>G c.(250-252)gAg>gGg p.E84G JAKMIP2_ENST00000507386.1_Missense_Mutation_p.E84G|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.E42G NM_014790.3 NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 84 Golgi apparatus p.E84G(1) NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCCTGCAGCTCCTTCATCTT 0.532000 70 348 0 0 0.014410 0 0 SLC19A3 80704 broad.mit.edu 37 2 228552161 228552161 + Silent SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr2:228552161C>A ENST00000258403.3 - 6 1514 c.1443G>T c.(1441-1443)gtG>gtT p.V481V SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Silent_p.V477V NM_025243.3 NP_079519.1 Q9BZV2 S19A3_HUMAN solute carrier family 19 (thiamine transporter), member 3 481 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity p.V481V(1) breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3) 30 Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236) Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125) L-Cysteine(DB00151) CTGGGTGAGACACATCTGGAT 0.403000 26 129 3.65163e-15 6.01114e-15 0.006320 1 0 SEMG2 6407 broad.mit.edu 37 20 43851907 43851907 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr20:43851907G>T ENST00000372769.3 + 2 1724 c.1634G>T c.(1633-1635)aGa>aTa p.R545I NM_003008.2 NP_002999.1 Q02383 SEMG2_HUMAN semenogelin II 545 Repeat-rich region. sexual reproduction extracellular space|stored secretory granule structural molecule activity p.R545I(1) autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Myeloproliferative disorder(115;0.0122) CAAAAAGGCAGATACAAACAG 0.373000 17 98 1.37285e-15 2.28098e-15 0.028581 1 0 ZNF780A 284323 broad.mit.edu 37 19 40580836 40580836 + Nonsense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr19:40580836C>A ENST00000450241.2 - 6 1722 c.1411G>T c.(1411-1413)Gag>Tag p.E471* ZNF780A_ENST00000455521.1_Nonsense_Mutation_p.E506*|ZNF780A_ENST00000414720.2_Intron|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Nonsense_Mutation_p.E506*|ZNF780A_ENST00000595687.2_Nonsense_Mutation_p.E505*|ZNF780A_ENST00000340963.5_Nonsense_Mutation_p.E505* O75290 Z780A_HUMAN zinc finger protein 780A 505 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E471*(1)|p.E506*(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TTCCCACACTCCTTACATTCA 0.423000 27 93 0.000117367 0.000133883 0.027356 1 0 ICA1L 130026 broad.mit.edu 37 2 203682164 203682164 + Missense_Mutation SNP A A C TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr2:203682164A>C ENST00000392237.2 - 7 818 c.661T>G c.(661-663)Tct>Gct p.S221A ICA1L_ENST00000358299.2_Missense_Mutation_p.S221A NM_138468.4 NP_612477.3 Q8NDH6 ICA1L_HUMAN islet cell autoantigen 1,69kDa-like 221 AH. p.S221A(1) breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 AGCGAATGAGATAGCATATTG 0.408000 4 103 0 0 0.014758 0 0 KCNMA1 3778 broad.mit.edu 37 10 78704598 78704598 + Missense_Mutation SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr10:78704598C>A ENST00000286627.5 - 22 3613 c.2661G>T c.(2659-2661)ttG>ttT p.L887F RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000372440.1_Missense_Mutation_p.L887F|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000286628.8_Missense_Mutation_p.L945F|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000354353.5_Missense_Mutation_p.L948F|KCNMA1_ENST00000404857.1_Missense_Mutation_p.L928F|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000372443.1_Missense_Mutation_p.L887F|KCNMA1_ENST00000406533.3_Missense_Mutation_p.L949F|KCNMA1_ENST00000404771.3_Missense_Mutation_p.L945F NM_002247.3 NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 945 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 p.L949F(1)|p.L887F(1) breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 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) TGAGTGACGCCAAGATGCATT 0.448000 15 71 1.49906e-05 1.78221e-05 0.020292 1 0 DLGAP4 22839 broad.mit.edu 37 20 35060939 35060939 + Silent SNP C C A TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr20:35060939C>A ENST00000373913.3 + 3 1299 c.819C>A c.(817-819)ccC>ccA p.P273P DLGAP4_ENST00000401952.2_Silent_p.P273P|DLGAP4_ENST00000373907.2_Silent_p.P273P|DLGAP4_ENST00000339266.5_Silent_p.P273P Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 273 Poly-Pro. cell-cell signaling membrane protein binding p.P273P(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CGCCCGCACCCCCAGCCACCT 0.627000 8 18 0.000673444 0.000744406 0.008291 1 0 ABCB9 23457 broad.mit.edu 37 12 123444365 123444365 + Missense_Mutation SNP C C T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr12:123444365C>T ENST00000542678.1 - 2 3256 c.418G>A c.(418-420)Gtg>Atg p.V140M ABCB9_ENST00000442028.2_Missense_Mutation_p.V140M|ABCB9_ENST00000540285.1_Missense_Mutation_p.V140M|ABCB9_ENST00000392439.3_Missense_Mutation_p.V140M|ABCB9_ENST00000346530.5_Missense_Mutation_p.V140M|ABCB9_ENST00000344275.7_Missense_Mutation_p.V140M|ABCB9_ENST00000280560.8_Missense_Mutation_p.V140M|ABCB9_ENST00000442833.2_Missense_Mutation_p.V140M Q9NP78 ABCB9_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 9 140 positive regulation of T cell mediated cytotoxicity|protein transport lysosomal membrane|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding p.V140M(1) central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1) 18 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111) CCTGGCCGCACGGTGGACAGC 0.716000 4 17 0 0 0.021553 0 0 GPRASP1 9737 broad.mit.edu 37 X 101910160 101910160 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chrX:101910160G>T ENST00000537097.1 + 6 2132 c.1319G>T c.(1318-1320)tGg>tTg p.W440L RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.W440L|GPRASP1_ENST00000361600.5_Missense_Mutation_p.W440L|GPRASP1_ENST00000444152.1_Missense_Mutation_p.W440L NM_001184727.1 NP_001171656.1 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting protein 1 440 cytoplasm protein binding p.W440F(1) NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 AGTTGGTTCTGGACTGAAGAA 0.517000 20 203 1.15919e-05 1.3843e-05 0.008871 1 0 NPR3 4883 broad.mit.edu 37 5 32712141 32712141 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr5:32712141G>T ENST00000265074.8 + 1 602 c.259G>T c.(259-261)Ggg>Tgg p.G87W NPR3_ENST00000415685.2_Intron|NPR3_ENST00000415167.2_Missense_Mutation_p.G87W|NPR3_ENST00000434067.2_Intron NM_000908.3|NM_001204375.1 NP_000899.1|NP_001191304.1 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) 87 osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity p.G87W(1) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 Nesiritide(DB04899) GGAGGGCAACGGGACTGGGAG 0.637000 14 61 5.03518e-11 7.40061e-11 0.007413 1 0 LRFN5 145581 broad.mit.edu 37 14 42356876 42356876 + Nonsense_Mutation SNP A A T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr14:42356876A>T ENST00000554171.1 + 5 3480 c.1048A>T c.(1048-1050)Aag>Tag p.K350* LRFN5_ENST00000298119.4_Nonsense_Mutation_p.K350*|LRFN5_ENST00000554120.1_Nonsense_Mutation_p.K350* Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 350 Ig-like. integral to membrane p.K350*(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) CACAACTGTAAAGGATACAGG 0.393000 HNSCC(30;0.082) 33 149 0 0 0.012213 0 0 CD1E 913 broad.mit.edu 37 1 158325255 158325255 + Missense_Mutation SNP G G T TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:158325255G>T ENST00000444681.2 + 2 517 c.224G>T c.(223-225)cGc>cTc p.R75L CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.R174L|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.R172L|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.R174L|CD1E_ENST00000368167.3_Missense_Mutation_p.R174L|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.R174L|CD1E_ENST00000452291.2_Intron NM_001185114.1 NP_001172043.1 P15812 CD1E_HUMAN CD1e molecule 174 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen p.R174L(2) breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) GTGCTCAATCGCTACCTAGAT 0.507000 16 134 0.000422831 0.000473253 0.028581 1 0 C1orf168 199920 broad.mit.edu 37 1 57219534 57219534 + Frame_Shift_Del DEL G G - TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:57219534delG ENST00000343433.6 - 8 1285 c.1205delC c.(1204-1206)cafs p.P402fs C1orf168_ENST00000484327.1_Intron NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 402 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 GTTTGAATATGGTTCCTTTTC 0.363 17 56 --- --- --- --- FLG2 388698 broad.mit.edu 37 1 152324558 152324559 + Frame_Shift_Del DEL TG TG - rs140875805 byFrequency TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr1:152324558_152324559delTG ENST00000388718.5 - 3 5775_5776 c.5703_5704delCA c.(5701-5706)cagcfs p.HS1901fs FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1901 calcium ion binding|structural molecule activity p.H1901fs*30(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGCTTGGCTGTGTGTGTGTC 0.515 11 500 --- --- --- --- GRB14 2888 broad.mit.edu 37 2 165365288 165365288 + Frame_Shift_Del DEL T T - TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr2:165365288delT ENST00000263915.3 - 7 1429 c.891delA c.(889-891)aafs p.K297fs GRB14_ENST00000543549.1_Frame_Shift_Del_p.K210fs NM_004490.2 NP_004481.2 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 297 PH. blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity p.K297fs*23(2) breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 GTGCTCCATGTTTTTTTTTGC 0.373 8 165 --- --- --- --- PCDHGA9 56107 broad.mit.edu 37 5 140783119 140783119 + Frame_Shift_Del DEL G G - TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr5:140783119delG ENST00000573521.1 + 1 600 c.600delG c.(598-600)ctfs p.L200fs PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCGCGCCCTGGACAGGGAGG 0.632 7 50 --- --- --- --- BTN2A3P 54718 broad.mit.edu 37 6 26426984 26426984 + RNA DEL T T - rs79308421 TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr6:26426984delT ENST00000466808.2 + 0 1067 GAACCTAGTCTTTTTTTTTTT 0.428 2 4 --- --- --- --- KBTBD3 143879 broad.mit.edu 37 11 105924167 105924167 + Frame_Shift_Del DEL C C - TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr11:105924167delC ENST00000526793.1 - 3 1408 c.1249delG c.(1249-1251)acfs p.D417fs KBTBD3_ENST00000534815.1_Frame_Shift_Del_p.D338fs|KBTBD3_ENST00000531837.1_Frame_Shift_Del_p.D417fs NM_152433.3 NP_689646.2 Q8NAB2 KBTB3_HUMAN kelch repeat and BTB (POZ) domain containing 3 413 NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 25 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) CTTTTAATGTCCCGGGATCCT 0.388 7 36 --- --- --- --- MYH6 4624 broad.mit.edu 37 14 23871694 23871694 + Frame_Shift_Del DEL C C - TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr14:23871694delC ENST00000405093.3 - 12 1190 c.1120delG c.(1120-1122)cgfs p.A374fs MYH6_ENST00000356287.3_Frame_Shift_Del_p.A374fs NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 374 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TCTGGCTCCGCCTGCTCCTCC 0.622 17 158 --- --- --- --- RGS6 9628 broad.mit.edu 37 14 72925085 72925085 + Splice_Site DEL G G - TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr14:72925085delG ENST00000553530.1 + 5 549 c.342_splice c.e5+1 p.Q114_splice RGS6_ENST00000404301.2_Splice_Site_p.Q114_splice|RGS6_ENST00000343854.6_Splice_Site_p.Q114_splice|RGS6_ENST00000553525.1_Splice_Site_p.Q114_splice|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000555571.1_Splice_Site_p.Q114_splice|RGS6_ENST00000355512.6_Splice_Site_p.Q114_splice|RGS6_ENST00000406236.4_Splice_Site_p.Q114_splice|RGS6_ENST00000407322.4_Splice_Site_p.Q114_splice|RGS6_ENST00000434263.2_Splice_Site_p.Q45_splice|RGS6_ENST00000402788.2_Splice_Site_p.Q114_splice|RGS6_ENST00000556437.1_Splice_Site_p.Q114_splice NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5 NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3 P49758 RGS6_HUMAN regulator of G-protein signaling 6 114 DEP. 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 endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 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) ATCGTTTCCAGGTAAGCCTGC 0.463 10 91 --- --- --- --- NOP56 10528 broad.mit.edu 37 20 2636619 2636619 + Frame_Shift_Del DEL A A - TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr20:2636619delA ENST00000329276.5 + 8 1465 c.949delA c.(949-951)acfs p.N317fs NOP56_ENST00000492135.1_3'UTR NM_006392.3 NP_006383.2 O00567 NOP56_HUMAN NOP56 ribonucleoprotein 317 Nop. rRNA processing box C/D snoRNP complex|pre-snoRNP complex protein binding|snoRNA binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 25 CAGCCTCACCAACCTGGCCAA 0.562 11 62 --- --- --- --- OVOL2 58495 broad.mit.edu 37 20 18022316 18022317 + Frame_Shift_Del DEL CA CA - TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr20:18022316_18022317delCA ENST00000278780.6 - 3 614_615 c.372_373delTG c.(370-375)tggcfs p.CG124fs OVOL2_ENST00000483661.1_5'UTR NM_021220.2 NP_067043.2 Q9BRP0 OVOL2_HUMAN ovo-like zinc finger 2 124 negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent nucleus DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3) 6 AAGCCCTTGCCACACAGGTCAC 0.614 7 64 --- --- --- --- MIR646HG 284757 broad.mit.edu 37 20 58889873 58889874 + RNA INS - - CCAT TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr20:58889873_58889874insCCAT ENST00000432910.1 + 0 332 NR_046099.1 catccatcctcccatcctccca 0.540 2 4 --- --- --- --- ARFGAP1 55738 broad.mit.edu 37 20 61907501 61907501 + Frame_Shift_Del DEL G G - TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 da5203dd-6288-46be-82cb-6c5f5d4cf129 g.chr20:61907501delG ENST00000370275.4 + 3 211 c.119delG c.(118-120)tgfs p.W40fs ARFGAP1_ENST00000547204.1_Intron|ARFGAP1_ENST00000519604.1_Intron|ARFGAP1_ENST00000353546.3_Frame_Shift_Del_p.W40fs|ARFGAP1_ENST00000519273.2_5'UTR|ARFGAP1_ENST00000370283.4_Frame_Shift_Del_p.W40fs Q8N6T3 ARFG1_HUMAN ADP-ribosylation factor GTPase activating protein 1 40 Arf-GAP. COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER cytosol|Golgi-associated vesicle membrane ARF GTPase activator activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1) 13 all_cancers(38;1.59e-09) TACGGCATCTGGATCTGCCTG 0.627 24 290 --- --- --- --- C1orf168 199920 broad.mit.edu 37 1 57219534 57219534 + Frame_Shift_Del DEL G G - TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:57219534delG ENST00000343433.6 - 8 1285 c.1205delC c.(1204-1206)cafs p.P402fs C1orf168_ENST00000484327.1_Intron NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 402 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 GTTTGAATATGGTTCCTTTTC 0.363 17 56 --- --- --- --- NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr1:120612003_120612004delGG ENST00000256646.2 - 1 236_237 c.17_18delCC c.(16-18)cfs p.P6fs NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 6 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.P6fs*27(2) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGCAGAGCGGGGCGCAGGGC 0.762 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 8 29 --- --- --- --- CALM2 805 broad.mit.edu 37 2 47387941 47387942 + Frame_Shift_Ins INS - - CT rs11551462 TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr2:47387941_47387942insCT ENST00000272298.7 - 6 580_581 c.423_424insAG c.(421-426)gattgtfs p.DC141fs CALM2_ENST00000409563.1_Frame_Shift_Ins_p.DC188fs|CALM2_ENST00000422269.1_Intron NM_001743.4 NP_001734.1 P62158 CALM_HUMAN calmodulin 2 (phosphorylase kinase, delta) 141 EF-hand 4. activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding p.0?(2) kidney(1)|large_intestine(2)|lung(1)|skin(1) 5 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069) ATTTGTACAAACTCTGAAAAAG 0.267 2 4 --- --- --- --- GRB14 2888 broad.mit.edu 37 2 165365288 165365288 + Frame_Shift_Del DEL T T - TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr2:165365288delT ENST00000263915.3 - 7 1429 c.891delA c.(889-891)aafs p.K297fs GRB14_ENST00000543549.1_Frame_Shift_Del_p.K210fs NM_004490.2 NP_004481.2 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 297 PH. blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity p.K297fs*23(2) breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 GTGCTCCATGTTTTTTTTTGC 0.373 8 165 --- --- --- --- PCDHGA9 56107 broad.mit.edu 37 5 140783119 140783119 + Frame_Shift_Del DEL G G - TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr5:140783119delG ENST00000573521.1 + 1 600 c.600delG c.(598-600)ctfs p.L200fs PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCGCGCCCTGGACAGGGAGG 0.632 7 50 --- --- --- --- ODF1 4956 broad.mit.edu 37 8 103572984 103572992 + In_Frame_Del DEL TGCAGCCCC TGCAGCCCC - rs3018444 byFrequency TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr8:103572984_103572992delTGCAGCCCC ENST00000285402.3 + 2 781_789 c.625_633delTGCAGCCCC c.(625-633)del p.CSP215del ODF1_ENST00000518835.1_Splice_Site_p.3_splice NM_024410.3 NP_077721.2 Q14990 ODFP1_HUMAN outer dense fiber of sperm tails 1 215 C-X-P repeat region. cell differentiation|multicellular organismal development|spermatogenesis outer dense fiber structural molecule activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826) CACTTCTCCTtgcagcccctgcagcccct 0.584 9 113 --- --- --- --- KBTBD3 143879 broad.mit.edu 37 11 105924167 105924167 + Frame_Shift_Del DEL C C - TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr11:105924167delC ENST00000526793.1 - 3 1408 c.1249delG c.(1249-1251)acfs p.D417fs KBTBD3_ENST00000531837.1_Frame_Shift_Del_p.D417fs|KBTBD3_ENST00000534815.1_Frame_Shift_Del_p.D338fs NM_152433.3 NP_689646.2 Q8NAB2 KBTB3_HUMAN kelch repeat and BTB (POZ) domain containing 3 413 NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 25 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) CTTTTAATGTCCCGGGATCCT 0.388 7 36 --- --- --- --- MYH6 4624 broad.mit.edu 37 14 23871694 23871694 + Frame_Shift_Del DEL C C - TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr14:23871694delC ENST00000405093.3 - 12 1190 c.1120delG c.(1120-1122)cgfs p.A374fs MYH6_ENST00000356287.3_Frame_Shift_Del_p.A374fs NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 374 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TCTGGCTCCGCCTGCTCCTCC 0.622 17 158 --- --- --- --- RGS6 9628 broad.mit.edu 37 14 72925085 72925085 + Splice_Site DEL G G - TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr14:72925085delG ENST00000553530.1 + 5 549 c.342_splice c.e5+1 p.Q114_splice RGS6_ENST00000343854.6_Splice_Site_p.Q114_splice|RGS6_ENST00000404301.2_Splice_Site_p.Q114_splice|RGS6_ENST00000555571.1_Splice_Site_p.Q114_splice|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000355512.6_Splice_Site_p.Q114_splice|RGS6_ENST00000406236.4_Splice_Site_p.Q114_splice|RGS6_ENST00000407322.4_Splice_Site_p.Q114_splice|RGS6_ENST00000402788.2_Splice_Site_p.Q114_splice|RGS6_ENST00000553525.1_Splice_Site_p.Q114_splice|RGS6_ENST00000556437.1_Splice_Site_p.Q114_splice|RGS6_ENST00000434263.2_Splice_Site_p.Q45_splice NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5 NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3 P49758 RGS6_HUMAN regulator of G-protein signaling 6 114 DEP. 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 endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 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) ATCGTTTCCAGGTAAGCCTGC 0.463 10 91 --- --- --- --- IGHV4-39 28394 broad.mit.edu 37 14 106877817 106877819 + RNA DEL ACT ACT - rs113800876 TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr14:106877817_106877819delACT ENST00000390619.2 - 0 224_226 CCCAGTAGTAACTACTACTGCTG 0.596 13 58 --- --- --- --- CSPG4P5 114817 broad.mit.edu 37 15 84957462 84957472 + RNA DEL GTGGCATCTGT GTGGCATCTGT - TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr15:84957462_84957472delGTGGCATCTGT ENST00000558801.1 - 0 7257_7267 CACTTGTAGGGTGGCATCTGTGTGCACTGGC 0.578 9 15 --- --- --- --- CSPG4P5 114817 broad.mit.edu 37 15 84958415 84958426 + RNA DEL CGAGGACATTGG CGAGGACATTGG - TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr15:84958415_84958426delCGAGGACATTGG ENST00000558801.1 - 0 6303_6314 TCGGGCACCACGAGGACATTGGTGAGGACAGG 0.557 5 9 --- --- --- --- C16orf3 750 broad.mit.edu 37 16 90095545 90095546 + In_Frame_Ins INS - - CTACGGGGCAGCCTATGGGGCAGG rs11274945 TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr16:90095545_90095546insCTACGGGGCAGCCTATGGGGCAGG ENST00000408886.2 - 1 763_764 c.205_206insCCTGCCCCATAGGCTGCCCCGTAG c.(205-207)ctc>CCTGCCCCATAGGCTGCCCCGTAGctc p.68_69insPAP*AAP* GAS8_ENST00000268699.4_Intron|GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron NM_001214.3 NP_001205.3 O95177 CP003_HUMAN chromosome 16 open reading frame 3 76 large_intestine(1)|lung(2)|prostate(1) 4 all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239) BRCA - Breast invasive adenocarcinoma(80;0.0272) GGCCATGGAGCctacggggcag 0.658 5 5 --- --- --- --- OVOL2 58495 broad.mit.edu 37 20 18022316 18022317 + Frame_Shift_Del DEL CA CA - TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr20:18022316_18022317delCA ENST00000278780.6 - 3 614_615 c.372_373delTG c.(370-375)tggcfs p.CG124fs OVOL2_ENST00000483661.1_5'UTR NM_021220.2 NP_067043.2 Q9BRP0 OVOL2_HUMAN ovo-like zinc finger 2 124 negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent nucleus DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3) 6 AAGCCCTTGCCACACAGGTCAC 0.614 7 64 --- --- --- --- RP13-329D4.3 0 broad.mit.edu 37 20 26113543 26113543 + RNA DEL A A - TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr20:26113543delA ENST00000416563.1 - 0 250 TCTTTGCCTTAACAACATTAT 0.363 3 4 --- --- --- --- ARFGAP1 55738 broad.mit.edu 37 20 61907501 61907501 + Frame_Shift_Del DEL G G - TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-11A-01D-1553-08 Untested Somatic Phase_I WXS none Illumina GAIIx e3aa9b45-13b9-4b61-a30f-ae3f88466040 b136159c-9feb-424d-b8a8-eaa47f4155f7 g.chr20:61907501delG ENST00000370275.4 + 3 211 c.119delG c.(118-120)tgfs p.W40fs ARFGAP1_ENST00000519273.2_5'UTR|ARFGAP1_ENST00000519604.1_Intron|ARFGAP1_ENST00000547204.1_Intron|ARFGAP1_ENST00000370283.4_Frame_Shift_Del_p.W40fs|ARFGAP1_ENST00000353546.3_Frame_Shift_Del_p.W40fs Q8N6T3 ARFG1_HUMAN ADP-ribosylation factor GTPase activating protein 1 40 Arf-GAP. COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER cytosol|Golgi-associated vesicle membrane ARF GTPase activator activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1) 13 all_cancers(38;1.59e-09) TACGGCATCTGGATCTGCCTG 0.627 24 290 --- --- --- ---