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 CSMD2 114784 broad.mit.edu 37 1 34112373 34112373 + Missense_Mutation SNP G G A TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr1:34112373G>A ENST00000373381.4 - 29 4825 c.4649C>T c.(4648-4650)cCt>cTt p.P1550L CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.P423L NM_001281956.1|NM_052896.3 NP_001268885.1|NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1510 CUB 9. integral to membrane|plasma membrane protein binding p.P1510L(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TCCTATGAGAGGGCTGAGAGA 0.562 4 35 --- --- --- --- KIAA0319L 79932 broad.mit.edu 37 1 35915489 35915489 + Missense_Mutation SNP T T C TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr1:35915489T>C ENST00000325722.3 - 15 2566 c.2332A>G c.(2332-2334)Acc>Gcc p.T778A KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Missense_Mutation_p.T215A NM_024874.4 NP_079150.3 Q8IZA0 K319L_HUMAN KIAA0319-like 778 PKD 5. cytoplasmic vesicle part|integral to membrane protein binding p.T778A(2) breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 34 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TCCACAGTGGTCCGGTCTGTG 0.488 22 154 --- --- --- --- SF3A3 10946 broad.mit.edu 37 1 38442585 38442585 + Missense_Mutation SNP G G T TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr1:38442585G>T ENST00000373019.4 - 12 1931 c.976C>A c.(976-978)Cag>Aag p.Q326K SF3A3_ENST00000448721.2_Missense_Mutation_p.Q273K NM_006802.2 NP_006793.1 Q12874 SF3A3_HUMAN splicing factor 3a, subunit 3, 60kDa 326 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nuclear speck nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2) 12 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TCATAGATCTGGGCTTCTAGA 0.403 28 185 --- --- --- --- ZFYVE9 9372 broad.mit.edu 37 1 52704167 52704167 + Missense_Mutation SNP G G C TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr1:52704167G>C ENST00000287727.3 + 4 1250 c.1078G>C c.(1078-1080)Gat>Cat p.D360H ZFYVE9_ENST00000357206.2_Missense_Mutation_p.D360H|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.D360H O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 360 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity p.D360H(1) breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 53 ACGGTGTTCAGATTGCCTTGT 0.428 17 206 --- --- --- --- SCN7A 6332 broad.mit.edu 37 2 167262388 167262388 + Missense_Mutation SNP C C A TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr2:167262388C>A ENST00000409855.1 - 25 4877 c.4751G>T c.(4750-4752)aGa>aTa p.R1584I NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 1584 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity p.R1584I(3) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 ACCCATAACTCTCTTTGTAAA 0.428 51 357 --- --- --- --- CDKN2AIPNL 91368 broad.mit.edu 37 5 133747428 133747428 + Missense_Mutation SNP G G A TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr5:133747428G>A ENST00000458198.2 - 1 161 c.118C>T c.(118-120)Cgc>Tgc p.R40C CDKN2AIPNL_ENST00000395009.3_Missense_Mutation_p.R40C NM_080656.2 NP_542387.1 Q96HQ2 C2AIL_HUMAN CDKN2A interacting protein N-terminal like 40 p.R40C(1) central_nervous_system(1)|kidney(2)|prostate(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AATTCCATGCGGGCCTTCCAT 0.677 OREG0016789 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 32 --- --- --- --- KIAA1324L 222223 broad.mit.edu 37 7 86556150 86556150 + Missense_Mutation SNP T T C TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr7:86556150T>C ENST00000450689.2 - 9 1357 c.1172A>G c.(1171-1173)gAg>gGg p.E391G KIAA1324L_ENST00000297222.6_Missense_Mutation_p.E151G|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.E224G|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.E391G NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like 391 integral to membrane p.E151G(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) ATCCTTCTTCTCTCCAGAAGG 0.428 14 265 --- --- --- --- MET 4233 broad.mit.edu 37 7 116340051 116340051 + Missense_Mutation SNP A A G TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr7:116340051A>G ENST00000397752.3 + 2 1113 c.913A>G c.(913-915)Aaa>Gaa p.K305E MET_ENST00000436117.2_Missense_Mutation_p.K305E|MET_ENST00000318493.6_Missense_Mutation_p.K305E NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 305 Sema. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding p.K305E(2) 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) AGAAAAGAGAAAAAAGAGATC 0.428 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 11 202 --- --- --- --- RP1 6101 broad.mit.edu 37 8 55540711 55540711 + Nonsense_Mutation SNP T T A TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr8:55540711T>A ENST00000220676.1 + 4 4417 c.4269T>A c.(4267-4269)tgT>tgA p.C1423* NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1423 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding p.C1423*(1) NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TTGAAAATTGTTCACTAAGGA 0.363 15 110 --- --- --- --- MSC 9242 broad.mit.edu 37 8 72756371 72756371 + Missense_Mutation SNP G G A TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr8:72756371G>A ENST00000325509.4 - 1 332 c.43C>T c.(43-45)Cgg>Tgg p.R15W RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_3'UTR NM_005098.3 NP_005089.2 O60682 MUSC_HUMAN musculin 15 transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity p.R15W(1) endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2) 26 Breast(64;0.176) Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203) TGCAGCCCCCGAAGCTCCATC 0.692 4 21 --- --- --- --- RNF26 79102 broad.mit.edu 37 11 119207000 119207000 + Missense_Mutation SNP G G T TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr11:119207000G>T ENST00000311413.4 + 1 1764 c.1168G>T c.(1168-1170)Gtg>Ttg p.V390L RP11-334E6.10_ENST00000501918.2_RNA NM_032015.4 NP_114404.1 Q9BY78 RNF26_HUMAN ring finger protein 26 390 zinc ion binding p.V390L(1) cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1) 12 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.8e-05) GAGCAAGACAGTGTTGCTCCT 0.607 16 95 --- --- --- --- SBNO1 55206 broad.mit.edu 37 12 123834911 123834911 + Silent SNP A A G TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr12:123834911A>G ENST00000420886.2 - 1 77 c.78T>C c.(76-78)atT>atC p.I26I SBNO1_ENST00000267176.4_Silent_p.I26I|SBNO1_ENST00000602398.1_Silent_p.I26I|SBNO1_ENST00000602750.1_Silent_p.I26I NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 26 ATP binding|DNA binding|hydrolase activity p.I26I(2) NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) CTCCACCATCAATATCAAAGA 0.438 16 386 --- --- --- --- INTS6 26512 broad.mit.edu 37 13 51942011 51942011 + Missense_Mutation SNP G G T TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr13:51942011G>T ENST00000311234.4 - 17 2972 c.2500C>A c.(2500-2502)Ctg>Atg p.L834M INTS6_ENST00000497989.1_Missense_Mutation_p.L656M|INTS6_ENST00000425000.1_Missense_Mutation_p.L402M|INTS6_ENST00000463928.1_3'UTR|INTS6_ENST00000490542.1_Missense_Mutation_p.L518M|INTS6_ENST00000398119.2_Missense_Mutation_p.L821M NM_012141.2 NP_036273.1 Q9UL03 INT6_HUMAN integrator complex subunit 6 834 snRNA processing actin cytoskeleton|integrator complex protein binding|transmembrane receptor activity p.L834M(1) NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;7.7e-08) ACATGCTTCAGTAAAGTGAAG 0.269 3 76 --- --- --- --- PRMT5 10419 broad.mit.edu 37 14 23397824 23397824 + Splice_Site SNP C C A TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr14:23397824C>A ENST00000324366.8 - 2 334 c.111G>T c.(109-111)ggG>ggT p.G37G PRMT5_ENST00000538452.1_Intron|PRMT5_ENST00000553897.1_Splice_Site_p.G37G|PRMT5_ENST00000553641.1_5'UTR|PRMT5_ENST00000216350.8_Splice_Site_p.G20G|PRMT5_ENST00000397440.4_Splice_Site_p.G20G|PRMT5_ENST00000397441.2_Splice_Site_p.G20G NM_006109.3 NP_006100.2 O14744 ANM5_HUMAN protein arginine methyltransferase 5 37 cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding p.G37G(1)|p.G20G(1) endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 25 all_cancers(95;2.76e-05) GBM - Glioblastoma multiforme(265;0.0126) GGAAATCAAACCTACAACCGC 0.512 4 100 --- --- --- --- ATG2B 55102 broad.mit.edu 37 14 96800092 96800092 + Silent SNP G G A TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr14:96800092G>A ENST00000359933.4 - 8 2033 c.1140C>T c.(1138-1140)ctC>ctT p.L380L NM_018036.5 NP_060506 Q96BY7 ATG2B_HUMAN autophagy related 2B 380 p.L380L(1) breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) CACCCACAGAGAGGGAATCTT 0.413 4 165 --- --- --- --- FBN1 2200 broad.mit.edu 37 15 48729540 48729540 + Missense_Mutation SNP C C T TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr15:48729540C>T ENST00000316623.5 - 52 6813 c.6358G>A c.(6358-6360)Gga>Aga p.G2120R NM_000138.4 NP_000129 P35555 FBN1_HUMAN fibrillin 1 2120 heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding p.G2120R(1) NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) TCATCAGGTCCCACGATGATC 0.423 3 59 --- --- --- --- SLC13A5 284111 broad.mit.edu 37 17 6597493 6597493 + Missense_Mutation SNP G G A TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr17:6597493G>A ENST00000433363.2 - 8 1312 c.1079C>T c.(1078-1080)gCc>gTc p.A360V SLC13A5_ENST00000293800.6_Missense_Mutation_p.A343V|SLC13A5_ENST00000573648.1_Missense_Mutation_p.A360V|SLC13A5_ENST00000381074.4_Missense_Mutation_p.A317V NM_001284510.1|NM_177550.3 NP_001271439.1|NP_808218.1 Q86YT5 S13A5_HUMAN solute carrier family 13 (sodium-dependent citrate transporter), member 5 360 integral to membrane citrate transmembrane transporter activity p.A360V(1) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1) 26 CACAAAGATGGCCACAGTGGC 0.522 6 28 --- --- --- --- MARK4 57787 broad.mit.edu 37 19 45762287 45762287 + Missense_Mutation SNP C C T TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr19:45762287C>T ENST00000300843.4 + 2 389 c.92C>T c.(91-93)cCg>cTg p.P31L MARK4_ENST00000262891.4_Missense_Mutation_p.P31L NM_031417.3 NP_113605.2 Q96L34 MARK4_HUMAN MAP/microtubule affinity-regulating kinase 4 31 microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding p.P31L(2) NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 31 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) GACAAAGGCCCGTCCTGGTCC 0.672 6 26 --- --- --- --- SIGLECL1 284369 broad.mit.edu 37 19 51768703 51768703 + Missense_Mutation SNP C C T TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr19:51768703C>T ENST00000316401.7 + 3 485 c.104C>T c.(103-105)cCc>cTc p.P35L SIGLECL1_ENST00000597824.1_Intron|CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000593968.1_Intron NM_173635.1 NP_775906.1 SIGLEC family like 1 p.P35L(1) ATTCCCACACCCTCTGTGCAG 0.587 29 152 --- --- --- --- NPEPL1 79716 broad.mit.edu 37 20 57290253 57290253 + Silent SNP C C T TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr20:57290253C>T ENST00000356091.6 + 12 1731 c.1443C>T c.(1441-1443)gcC>gcT p.A481A NPEPL1_ENST00000525817.1_Silent_p.A433A|STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525967.1_Silent_p.A453A NM_024663.3 NP_078939.3 Q8NDH3 PEPL1_HUMAN aminopeptidase-like 1 481 proteolysis cytoplasm aminopeptidase activity|manganese ion binding|metalloexopeptidase activity p.A481A(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109) TCGGTGTGGCCCTCCTGCTGG 0.672 5 9 --- --- --- --- CDR1 1038 broad.mit.edu 37 X 139866376 139866376 + Missense_Mutation SNP C C A TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chrX:139866376C>A ENST00000370532.2 - 1 347 c.156G>T c.(154-156)ttG>ttT p.L52F NM_004065.2 NP_004056.2 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 34kDa 52 23 X 6 AA approximate repeats. p.L52F(1) breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) CCACGTCTTCCAACAAAGCCA 0.438 37 101 --- --- --- --- NEUROD2 4761 broad.mit.edu 37 17 37762300 37762308 + In_Frame_Del DEL GGTCTGGCC GGTCTGGCC - TCGA-CH-5771-01A-21D-1576-08 TCGA-CH-5771-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 87e1ffee-a8cd-4d75-937e-ed415cf43546 d75f9a49-dfc3-493b-b9dd-4940d9803cfd g.chr17:37762300_37762308delGGTCTGGCC ENST00000302584.4 - 2 765_773 c.545_553delGGCCAGACC c.(544-555)cggccagaccta>cta p.RPD182del NM_006160.3 NP_006151.3 Q15784 NDF2_HUMAN neuronal differentiation 2 182 cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter nucleus E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(4) 8 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664) TAGGACACTAGGTCTGGCCGCTTGCCGGA 0.603 8 81 --- --- --- ---