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 ATP8A1 10396 broad.mit.edu 37 4 42576684 42576684 + Missense_Mutation SNP C C T TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr4:42576684C>T ENST00000381668.5 - 14 1478 c.1247G>A c.(1246-1248)tGc>tAc p.C416Y ATP8A1_ENST00000264449.10_Missense_Mutation_p.C416Y NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 416 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) CATTACATTGCATGTCAGAGT 0.308000 16 81 0 0 1 0 0 KCNIP2 30819 broad.mit.edu 37 10 103588846 103588846 + Missense_Mutation SNP G G A TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr10:103588846G>A ENST00000358038.3 - 3 631 c.280C>T c.(280-282)Cgg>Tgg p.R94W KCNIP2_ENST00000348850.5_Missense_Mutation_p.R67W|KCNIP2_ENST00000356640.2_Missense_Mutation_p.R112W|KCNIP2_ENST00000370046.1_Missense_Mutation_p.R62W|KCNIP2_ENST00000343195.4_Missense_Mutation_p.R62W|KCNIP2_ENST00000353068.3_Missense_Mutation_p.R62W|KCNIP2_ENST00000461105.1_Missense_Mutation_p.R127W|KCNIP2_ENST00000355657.2_5'UTR NM_173192.2|NM_173193.2|NM_173195.2 NP_775284.1|NP_775285.1|NP_775287.1 Q9NS61 KCIP2_HUMAN Kv channel interacting protein 2 112 EF-hand 1; degenerate. clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission cytoplasm|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 11 Colorectal(252;0.122) Epithelial(162;4.93e-09)|all cancers(201;2.63e-07) TTGAAGCCCCGGTACAGGACC 0.582000 9 17 0 0 1 0 0 IL4R 3566 broad.mit.edu 37 16 27367221 27367221 + Missense_Mutation SNP A A C TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr16:27367221A>C ENST00000395762.2 + 8 1022 c.763A>C c.(763-765)Atc>Ctc p.I255L IL4R_ENST00000543915.2_Missense_Mutation_p.I255L|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000380922.3_Missense_Mutation_p.I240L|IL4R_ENST00000170630.2_Missense_Mutation_p.I255L NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 255 immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 CTATGTCAGCATCACCAAGTG 0.612000 6 42 0 0 1 0 0 SRGAP3 9901 broad.mit.edu 37 3 9055452 9055452 + Missense_Mutation SNP C C T TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr3:9055452C>T ENST00000383836.3 - 16 2315 c.1888G>A c.(1888-1890)Gtc>Atc p.V630I SRGAP3_ENST00000360413.3_Missense_Mutation_p.V606I NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 630 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) TATCTCATGACCACAATGACC 0.557000 T RAF1 pilocytic astrocytoma 8 42 0 0 1 0 0 USP35 57558 broad.mit.edu 37 11 77917055 77917055 + Missense_Mutation SNP C C T TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr11:77917055C>T ENST00000441408.2 + 5 684 c.119C>T c.(118-120)tCc>tTc p.S40F USP35_ENST00000530267.1_Silent_p.I23I|USP35_ENST00000529308.1_Silent_p.I455I|USP35_ENST00000526425.1_Silent_p.I186I|USP35_ENST00000530535.1_Intron Q9P2H5 UBP35_HUMAN ubiquitin specific peptidase 35 0 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1) 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) TCAACAGCATCCTTCAGGCCT 0.547000 5 298 0 0 1 0 0 SYT14 255928 broad.mit.edu 37 1 210334143 210334143 + Missense_Mutation SNP G G A TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr1:210334143G>A ENST00000537238.1 + 9 1701 c.1310G>A c.(1309-1311)cGc>cAc p.R437H SYT14_ENST00000534859.1_Missense_Mutation_p.R501H|SYT14_ENST00000399639.2_3'UTR|SYT14_ENST00000367015.1_Missense_Mutation_p.R437H|SYT14_ENST00000367019.1_Missense_Mutation_p.R494H|SYT14_ENST00000472886.1_Missense_Mutation_p.R475H|SYT14_ENST00000422431.1_Missense_Mutation_p.R539H|SYT14_ENST00000271745.7_3'UTR NM_001256006.1|NM_153262.3 NP_001242935.1|NP_694994.2 Q8NB59 SYT14_HUMAN synaptotagmin XIV 475 C2 2. integral to membrane endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3) 37 OV - Ovarian serous cystadenocarcinoma(81;0.085) ACATCCATCCGCAGAGGGCAG 0.378000 13 65 0 0 1 0 0 OR10C1 442194 broad.mit.edu 37 6 29408448 29408448 + Missense_Mutation SNP G G A rs74711365 TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr6:29408448G>A ENST00000444197.2 + 1 1366 c.656G>A c.(655-657)cGt>cAt p.R219H OR11A1_ENST00000377149.1_Intron NM_013941.3 NP_039229.3 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene) 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 TCCTACGGGCGTATCCTCGTT 0.582000 12 183 0 0 1 0 0 ZNF750 79755 broad.mit.edu 37 17 80790121 80790121 + Silent SNP T T G TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr17:80790121T>G ENST00000269394.3 - 2 1043 c.210A>C c.(208-210)tcA>tcC p.S70S TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron NM_024702.2 NP_078978.2 Q32MQ0 ZN750_HUMAN zinc finger protein 750 70 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) TGGGGTCTAGTGAGTTAGATT 0.473000 21 86 0 0 1 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72658359 72658359 + RNA SNP G G A TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr7:72658359G>A ENST00000425256.1 - 0 1552 NR_002164.1 ttctcaacacgcgaaaagatc 0.498000 8 31 0 0 1 0 0 IGSF22 283284 broad.mit.edu 37 11 18738274 18738274 + Splice_Site SNP C C T TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr11:18738274C>T ENST00000513874.1 - 10 1386 c.e10+1 RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859.3 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 CAACCACTCACGGTCAACAGT 0.517000 16 44 0 0 1 0 0 IGKV2-30 0 broad.mit.edu 37 2 89544386 89544386 + RNA SNP C C G TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr2:89544386C>G ENST00000468494.1 - 0 267 ACCCCAGAGTCCCGGTTAGAA 0.498000 41 156 0 0 1 0 0 PDE6C 5146 broad.mit.edu 37 10 95399905 95399905 + Silent SNP T T C TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr10:95399905T>C ENST00000371447.3 + 12 1699 c.1561T>C c.(1561-1563)Ttg>Ctg p.L521L NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime 521 visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) AGAGCACGGATTGATTAAATG 0.413000 17 47 0 0 1 0 0 NAA15 80155 broad.mit.edu 37 4 140297585 140297585 + Missense_Mutation SNP A A G TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr4:140297585A>G ENST00000296543.5 + 16 2337 c.2014A>G c.(2014-2016)Ata>Gta p.I672V NAA15_ENST00000398947.1_Missense_Mutation_p.I672V NM_057175.3 NP_476516.1 Q9BXJ9 NAA15_HUMAN N(alpha)-acetyltransferase 15, NatA auxiliary subunit 672 angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 GAAGAACAAGATAGAGACTCA 0.333000 12 45 0 0 1 0 0 FAM151A 338094 broad.mit.edu 37 1 55075174 55075174 + Missense_Mutation SNP A A G TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr1:55075174A>G ENST00000302250.2 - 8 1685 c.1525T>C c.(1525-1527)Tcc>Ccc p.S509P ACOT11_ENST00000371316.3_Intron|ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_3'UTR|FAM151A_ENST00000371304.2_Missense_Mutation_p.S322P NM_176782.2 NP_788954.2 Q8WW52 F151A_HUMAN family with sequence similarity 151, member A 509 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 12 ATCTGGAAGGACACAGGTTGC 0.632000 21 103 0 0 1 0 0 ST3GAL1 6482 broad.mit.edu 37 8 134472109 134472109 + Silent SNP C C T TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr8:134472109C>T ENST00000319914.5 - 9 1948 c.921G>A c.(919-921)gcG>gcA p.A307A ST3GAL1_ENST00000522652.1_Silent_p.A307A|ST3GAL1_ENST00000399640.2_Silent_p.A307A|ST3GAL1_ENST00000521180.1_Silent_p.A307A Q11201 SIA4A_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 1 307 protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity endometrium(3)|large_intestine(2)|lung(11)|prostate(1) 17 all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.00721) GAAAAGCCCCCGCGGATGGGT 0.552000 4 167 0 0 1 0 0 FAM209A 200232 broad.mit.edu 37 20 55100069 55100069 + Missense_Mutation SNP C C T TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr20:55100069C>T ENST00000371328.3 + 1 528 c.205C>T c.(205-207)Ccg>Tcg p.P69S GCNT7_ENST00000243913.4_Intron|FAM209A_ENST00000481560.1_3'UTR NM_001012971.3 NP_001012989.2 family with sequence similarity 209, member A TGTTGTTGTGCCGTTTGTGAT 0.463000 15 68 0 0 1 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73022674 73022674 + Silent SNP G G A TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr11:73022674G>A ENST00000263674.3 + 1 3341 c.2991G>A c.(2989-2991)acG>acA p.T997T NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 997 Pro-rich. actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 CCCATCCCACGTTGCAGGCAC 0.602000 8 30 0 0 1 0 0 ATP1A2 477 broad.mit.edu 37 1 160093053 160093053 + Silent SNP C C T TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr1:160093053C>T ENST00000361216.3 + 4 317 c.228C>T c.(226-228)aaC>aaT p.N76N ATP1A2_ENST00000392233.3_Silent_p.N76N|ATP1A2_ENST00000472488.1_3'UTR NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 76 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) ATGGGCCCAACGCCCTCACAC 0.637000 29 106 0 0 1 0 0 EXOSC6 118460 broad.mit.edu 37 16 70285043 70285043 + Missense_Mutation SNP A A T TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr16:70285043A>T ENST00000435634.1 - 1 790 c.761T>A c.(760-762)gTg>gAg p.V254E NM_058219.2 NP_478126.1 Q5RKV6 EXOS6_HUMAN exosome component 6 254 DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|isotype switching|rRNA processing cytosol|exosome (RNase complex)|nucleolus RNA binding CTGCTGCAGCACGGGGTAGAG 0.751000 4 6 0 0 1 0 0 TACR3 6870 broad.mit.edu 37 4 104640398 104640398 + Silent SNP G G A TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr4:104640398G>A ENST00000304883.2 - 1 575 c.435C>T c.(433-435)taC>taT p.Y145Y NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 145 integral to plasma membrane tachykinin receptor activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) TATGAAGCGCGTAGATGAAAT 0.537000 7 31 0 0 1 0 0 RANBP9 10048 broad.mit.edu 37 6 13625976 13625976 + Silent SNP T T C TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr6:13625976T>C ENST00000011619.3 - 13 2026 c.1968A>G c.(1966-1968)gcA>gcG p.A656A NOL7_ENST00000474485.1_Intron|RANBP9_ENST00000469916.1_5'UTR|RANBP9_ENST00000539980.1_Silent_p.A427A NM_005493.2 NP_005484.2 Q96S59 RANB9_HUMAN RAN binding protein 9 656 Interaction with FMR1. axon guidance|microtubule nucleation|protein complex assembly cytosol|microtubule associated complex|nucleus Ran GTPase binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 16 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.223) GATCTGAATATGCTAGTAGAC 0.388000 26 68 0 0 1 0 0 EPB41L3 23136 broad.mit.edu 37 18 5398057 5398057 + Missense_Mutation SNP A A G TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr18:5398057A>G ENST00000341928.2 - 17 2775 c.2435T>C c.(2434-2436)aTa>aCa p.I812T EPB41L3_ENST00000544123.1_Missense_Mutation_p.I643T|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000427684.2_Missense_Mutation_p.I109T|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.I812T|EPB41L3_ENST00000542146.1_Missense_Mutation_p.I117T NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 812 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 AACCCCTCCTATGAATTCTGT 0.443000 38 163 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189909928 189909928 + Nonsense_Mutation SNP G G A TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr2:189909928G>A ENST00000374866.3 - 47 3614 c.3340C>T c.(3340-3342)Cga>Tga p.R1114* NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 1114 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TTCCCAGCTCGACCAGGTGGT 0.303000 7 28 0 0 1 0 0 CCT4 10575 broad.mit.edu 37 2 62099698 62099698 + Missense_Mutation SNP T T C TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr2:62099698T>C ENST00000394440.3 - 11 1447 c.1151A>G c.(1150-1152)aAa>aGa p.K384R CCT4_ENST00000538252.1_Missense_Mutation_p.K328R|CCT4_ENST00000461540.2_Intron|CCT4_ENST00000544185.1_Missense_Mutation_p.K234R|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000544079.1_Missense_Mutation_p.K354R NM_006430.3 NP_006421.2 P50991 TCPD_HUMAN chaperonin containing TCP1, subunit 4 (delta) 384 'de novo' posttranslational protein folding melanosome|microtubule organizing center|nucleus ATP binding|unfolded protein binding breast(1)|large_intestine(2)|lung(6)|ovary(2) 11 Lung NSC(7;0.035)|all_lung(7;0.0691) LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221) TGTAACTGTTTTTCCAGGGCT 0.448000 14 42 0 0 1 0 0 SLC9A5 6553 broad.mit.edu 37 16 67290816 67290816 + Missense_Mutation SNP G G A TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr16:67290816G>A ENST00000299798.11 + 7 1200 c.1135G>A c.(1135-1137)Gta>Ata p.V379I NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 379 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CGCTGTAGGCGTAGTCCTGCA 0.622000 16 46 0 0 1 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72137985 72137985 + Missense_Mutation SNP G G A TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr14:72137985G>A ENST00000555818.1 + 8 2753 c.2405G>A c.(2404-2406)cGg>cAg p.R802Q SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R802Q|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R802Q|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R277Q NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 802 Rap-GAP. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) GAGAAGTTTCGGGCCATGGCA 0.478000 12 45 0 0 1 0 0 ANKRD20A11P 0 broad.mit.edu 37 21 15326416 15326416 + RNA SNP C C A TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr21:15326416C>A ENST00000344693.5 - 0 791 NR_027270.1 TATTCTGTTTCCTTTTCCATG 0.398000 15 75 6.33239e-15 6.44965e-15 1 1 0 WNK1 65125 broad.mit.edu 37 12 994555 994555 + Missense_Mutation SNP C C G TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr12:994555C>G ENST00000537687.1 + 19 6008 c.5365C>G c.(5365-5367)Cta>Gta p.L1789V WNK1_ENST00000530271.2_Missense_Mutation_p.L2027V|WNK1_ENST00000315939.6_Missense_Mutation_p.L1529V|WNK1_ENST00000340908.4_Missense_Mutation_p.L1122V|WNK1_ENST00000535572.1_Missense_Mutation_p.L1282V NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1529 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CGCACACTCACTAGATAAGAC 0.468000 64 166 0 0 1 0 0 PCDHA1 0 broad.mit.edu 37 5 140168038 140168038 + Silent SNP G G T TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr5:140168038G>T ENST00000504120.2 + 1 2163 c.2163G>T c.(2161-2163)ctG>ctT p.L721L PCDHA1_ENST00000378133.3_Silent_p.L721L|PCDHA1_ENST00000394633.3_Intron NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACACGGCGCTGCGGTGCTCAG 0.657000 4 49 0.150653 0.150653 1 1 0 SCO1 6341 broad.mit.edu 37 17 10600820 10600820 + Missense_Mutation SNP G G A rs147487151 byFrequency TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr17:10600820G>A ENST00000255390.5 - 1 65 c.5C>T c.(4-6)gCg>gTg p.A2V SCO1_ENST00000577427.1_Missense_Mutation_p.A2V NM_004589.2 NP_004580.1 O75880 SCO1_HUMAN SCO1 cytochrome c oxidase assembly protein 2 cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly mitochondrial inner membrane copper ion binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1) 10 GACCAGCATCGCCATGAGCCT 0.647000 4 20 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238283426 238283426 + Missense_Mutation SNP C C T TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr2:238283426C>T ENST00000295550.4 - 8 3760 c.3308G>A c.(3307-3309)gGg>gAg p.G1103E COL6A3_ENST00000409809.1_Missense_Mutation_p.G897E|COL6A3_ENST00000472056.1_Missense_Mutation_p.G496E|COL6A3_ENST00000353578.4_Missense_Mutation_p.G897E|COL6A3_ENST00000347401.3_Missense_Mutation_p.G902E|COL6A3_ENST00000346358.4_Missense_Mutation_p.G903E|COL6A3_ENST00000392003.2_Missense_Mutation_p.G696E|COL6A3_ENST00000392004.3_Missense_Mutation_p.G897E NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1103 Nonhelical region.|VWFA 6. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GGGGGTCGGCCCTCCCAGCAG 0.617000 15 37 0 0 1 0 0 CNTN6 27255 broad.mit.edu 37 3 1367541 1367541 + Missense_Mutation SNP C C T rs150393896 by1000genomes TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr3:1367541C>T ENST00000446702.2 + 9 1616 c.989C>T c.(988-990)tCt>tTt p.S330F CNTN6_ENST00000539053.1_Missense_Mutation_p.S258F|CNTN6_ENST00000350110.2_Missense_Mutation_p.S330F Q9UQ52 CNTN6_HUMAN contactin 6 330 Ig-like C2-type 4. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) ACACACCTCTCTATCTATGAC 0.418000 12 62 0 0 1 0 0 PHACTR3 116154 broad.mit.edu 37 20 58348360 58348360 + Missense_Mutation SNP A A T TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr20:58348360A>T ENST00000371015.1 + 6 1245 c.778A>T c.(778-780)Agc>Tgc p.S260C PHACTR3_ENST00000359926.3_Missense_Mutation_p.S257C|PHACTR3_ENST00000355648.4_Missense_Mutation_p.S219C|PHACTR3_ENST00000361300.4_Missense_Mutation_p.S149C|PHACTR3_ENST00000541461.1_Missense_Mutation_p.S219C|PHACTR3_ENST00000395636.2_Missense_Mutation_p.S219C|PHACTR3_ENST00000395639.4_Missense_Mutation_p.S149C NM_080672.3 NP_542403.1 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 260 nuclear matrix actin binding|protein phosphatase inhibitor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) CCAAGCCTCCAGCATGAAGAG 0.632000 22 57 0 0 1 0 0 F13A1 2162 broad.mit.edu 37 6 6305671 6305671 + Missense_Mutation SNP G G A TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr6:6305671G>A ENST00000264870.3 - 3 497 c.232C>T c.(232-234)Cgc>Tgc p.R78C NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 78 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity p.R78C(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) TGCCCTCTGCGGACAATCAGC 0.478000 19 54 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74006445 74006445 + Silent SNP G G C TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr17:74006445G>C ENST00000301607.3 - 22 3094 c.2841C>G c.(2839-2841)acC>acG p.T947T EVPL_ENST00000586740.1_Silent_p.T969T NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 947 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 AGGGCCGCTGGGTCCTCAGCT 0.667000 11 36 0 0 1 0 0 ATP10B 23120 broad.mit.edu 37 5 160047583 160047583 + Silent SNP G G A TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr5:160047583G>A ENST00000327245.5 - 15 3033 c.2187C>T c.(2185-2187)caC>caT p.H729H CTC-348L5.1_ENST00000523598.1_RNA NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 729 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 NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CATGGGCAGCGTGCACCAGGG 0.642000 7 24 0 0 1 0 0 CDH16 1014 broad.mit.edu 37 16 66947138 66947138 + Missense_Mutation SNP G G A TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr16:66947138G>A ENST00000299752.4 - 9 1143 c.950C>T c.(949-951)gCg>gTg p.A317V CDH16_ENST00000570262.1_Missense_Mutation_p.A237V|CDH16_ENST00000394055.3_Missense_Mutation_p.A317V|CDH16_ENST00000565796.1_Missense_Mutation_p.A317V|CDH16_ENST00000568632.1_Missense_Mutation_p.A220V NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 317 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.A317V(1) endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) CAGAGGGGCCGCATAGTCCTC 0.622000 4 76 0 0 1 0 0 OCA2 4948 broad.mit.edu 37 15 28116315 28116315 + Silent SNP C C T rs41307118 TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr15:28116315C>T ENST00000354638.3 - 21 2384 c.2229G>A c.(2227-2229)ccG>ccA p.P743P OCA2_ENST00000353809.5_Silent_p.P719P NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 743 P -> L (in OCA2 and unclassified OCA). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) TAGCAGTGAACGGGATGTTGT 0.592000 Oculocutaneous Albinism 8 23 0 0 1 0 0 CHRM2 1129 broad.mit.edu 37 7 136699850 136699850 + Missense_Mutation SNP T T C TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr7:136699850T>C ENST00000445907.2 + 3 766 c.238T>C c.(238-240)Tac>Cac p.Y80H CHRM2_ENST00000397608.3_Missense_Mutation_p.Y80H|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.Y80H|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.Y80H|CHRM2_ENST00000453373.1_Missense_Mutation_p.Y80H|CHRM2_ENST00000401861.1_Missense_Mutation_p.Y80H|AC009264.1_ENST00000439694.1_RNA NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 80 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) CATGAACTTGTACACCCTCTA 0.468000 22 90 0 0 1 0 0 C12orf74 338809 broad.mit.edu 37 12 93100898 93100898 + Missense_Mutation SNP G G A TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr12:93100898G>A ENST00000544406.2 + 2 757 c.491G>A c.(490-492)cGa>cAa p.R164Q C12orf74_ENST00000397833.3_Missense_Mutation_p.R164Q Q32Q52 CL074_HUMAN chromosome 12 open reading frame 74 164 kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2) 10 CCCACCCTACGACACCCTAGT 0.552000 6 20 0 0 1 0 0 DNAJC13 23317 broad.mit.edu 37 3 132196704 132196704 + Missense_Mutation SNP T T A TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr3:132196704T>A ENST00000260818.6 + 23 2765 c.2517T>A c.(2515-2517)gaT>gaA p.D839E NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 839 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 TGGAGGAAGATGAGAATGAAG 0.348000 17 104 0 0 1 0 0 CGA 1081 broad.mit.edu 37 6 87796012 87796012 + Missense_Mutation SNP C C T rs145503313 TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr6:87796012C>T ENST00000369582.2 - 3 329 c.229G>A c.(229-231)Gtc>Atc p.V77I NM_000735.3 NP_000726.1 P01215 GLHA_HUMAN glycoprotein hormones, alpha polypeptide 77 hormone biosynthetic process|peptide hormone processing|signal transduction extracellular region|soluble fraction hormone activity p.V77I(1) NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1) 15 all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102) BRCA - Breast invasive adenocarcinoma(108;0.0484) TCTGAGGTGACGTTCTTTTGG 0.483000 4 93 0 0 1 0 0 HIST1H3C 8352 broad.mit.edu 37 6 26045770 26045770 + Silent SNP G G A TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr6:26045770G>A ENST00000540144.1 + 1 132 c.132G>A c.(130-132)ccG>ccA p.P44P NM_003531.2 NP_003522.1 P68431 H31_HUMAN histone cluster 1, H3c 44 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1) 8 GCTACCGCCCGGGCACCGTGG 0.647000 6 68 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123844843 123844843 + Missense_Mutation SNP C C T TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr10:123844843C>T ENST00000369005.1 + 4 3168 c.2828C>T c.(2827-2829)gCa>gTa p.A943V TACC2_ENST00000334433.3_Missense_Mutation_p.A943V|TACC2_ENST00000515273.1_Missense_Mutation_p.A943V|TACC2_ENST00000515603.1_Missense_Mutation_p.A943V|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.A943V NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 943 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) AAGTTGCCTGCACTAGGGGAG 0.527000 22 66 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152679519 152679519 + Missense_Mutation SNP G G A TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr6:152679519G>A ENST00000367255.5 - 66 11198 c.10597C>T c.(10597-10599)Cgt>Tgt p.R3533C SYNE1_ENST00000448038.1_Missense_Mutation_p.R3540C|SYNE1_ENST00000265368.4_Missense_Mutation_p.R3533C|SYNE1_ENST00000341594.5_Missense_Mutation_p.R3504C|SYNE1_ENST00000423061.1_Missense_Mutation_p.R3540C NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3533 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGAAGATCACGCAATGTTGTC 0.388000 HNSCC(10;0.0054) 22 99 0 0 1 0 0 EPHA10 284656 broad.mit.edu 37 1 38192843 38192843 + Missense_Mutation SNP A A G TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr1:38192843A>G ENST00000373048.4 - 8 1702 c.1703T>C c.(1702-1704)gTc>gCc p.V568A EPHA10_ENST00000330210.7_Missense_Mutation_p.V63A|EPHA10_ENST00000540011.1_Missense_Mutation_p.V63A|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.V568A NM_001099439.1 NP_001092909.1 Q5JZY3 EPHAA_HUMAN EPH receptor A10 568 extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CACTACGGTGACGACAATGGC 0.642000 3 23 0 0 1 0 0 PRCP 5547 broad.mit.edu 37 11 82560220 82560220 + Silent SNP G G A TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr11:82560220G>A ENST00000313010.3 - 6 986 c.792C>T c.(790-792)tgC>tgT p.C264C PRCP_ENST00000535099.1_Silent_p.C159C|PRCP_ENST00000393399.2_Silent_p.C285C NM_005040.2 NP_005031.1 P42785 PCP_HUMAN prolylcarboxypeptidase (angiotensinase C) 264 SKS domain. blood coagulation, intrinsic pathway|proteolysis lysosome|plasma membrane protein binding|serine-type carboxypeptidase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 17 TTAATGGGCTGCATAAGTGAA 0.438000 4 47 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73835695 73835696 + Frame_Shift_Ins INS - - A TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr2:73835695_73835696insA ENST00000264448.6 + 22 12564_12565 c.12453_12454insA c.(12451-12456)taaaaafs p.*K4151fs ALMS1_ENST00000409009.1_Frame_Shift_Ins_p.*K4109fs NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 4151 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 CCCAGCTATATAAAAAGGTCAG 0.426 7 25 --- --- --- --- TMEM184A 202915 broad.mit.edu 37 7 1586653 1586654 + In_Frame_Ins INS - - GCC rs112463195 by1000genomes TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr7:1586653_1586654insGCC ENST00000297477.5 - 9 1492_1493 c.1176_1177insGGC c.(1174-1179)ggccgg>ggGGCccgg p.392_393GR>GAR NM_001097620.1 NP_001091089.1 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 392 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) CTCCCGCCGGAGCCGCCGCTGG 0.708 9 11 --- --- --- --- STEAP2-AS1 0 broad.mit.edu 37 7 89748927 89748928 + RNA INS - - C rs138239781 by1000genomes TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr7:89748927_89748928insC ENST00000478318.2 - 0 424 DPY19L2P4_ENST00000497063.1_RNA|RP5-1121E10.2_ENST00000471553.1_lincRNA GGTGCGGGCCTCCCCCTTCCCC 0.639 4 2 --- --- --- --- SERPING1 710 broad.mit.edu 37 11 57365774 57365776 + In_Frame_Del DEL CTG CTG - TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr11:57365774_57365776delCTG ENST00000403558.1 + 1 499_501 c.133_135delCTG c.(133-135)del p.L49del SERPING1_ENST00000378323.4_In_Frame_Del_p.L15del|SERPING1_ENST00000378324.2_Intron|SERPING1_ENST00000340687.6_In_Frame_Del_p.L15del|SERPING1_ENST00000278407.4_In_Frame_Del_p.L15del NM_001032295.1 NP_001027466.1 P05155 IC1_HUMAN serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 15 blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1) 27 GCTGACCCTCCTGCTGCTGCTGC 0.714 4 8 --- --- --- --- MFGE8 4240 broad.mit.edu 37 15 89449106 89449107 + Frame_Shift_Ins INS - - T TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr15:89449106_89449107insT ENST00000539437.1 - 6 678_679 c.542_543insA c.(541-543)agcfs p.S181fs MFGE8_ENST00000542878.1_Frame_Shift_Ins_p.S145fs|MFGE8_ENST00000268151.7_Frame_Shift_Ins_p.S189fs|MFGE8_ENST00000566497.1_Frame_Shift_Ins_p.S189fs|MFGE8_ENST00000268150.8_Frame_Shift_Ins_p.S189fs|MFGE8_ENST00000559997.1_Intron Q08431 MFGM_HUMAN milk fat globule-EGF factor 8 protein 189 F5/8 type C 1. angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 22 Lung NSC(78;0.0392)|all_lung(78;0.077) CATGCACCGCGTTTTTGTTCCA 0.569 15 99 --- --- --- --- SREBF2 6721 broad.mit.edu 37 22 42262949 42262951 + In_Frame_Del DEL GCA GCA - TCGA-2A-A8W3-01A-11D-A377-08 TCGA-2A-A8W3-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8c4b6f6-86d6-48a2-bbfb-7b8da1493669 a7e479c1-0527-4958-9741-e038dcfc931f g.chr22:42262949_42262951delGCA ENST00000361204.4 + 2 369_371 c.203_205delGCA c.(202-207)ggc>g p.GS68del NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 68 Gly/Pro/Ser-rich. cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 ggcagcagtggcagcagcagcag 0.567 7 115 --- --- --- ---