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 EXTL1 2134 broad.mit.edu 37 1 26349783 26349783 + Missense_Mutation SNP C C T TCGA-HC-8257-01A-11D-2260-08 TCGA-HC-8257-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7373089-17c1-4809-b236-dec22225a3f0 1b6bdf28-2065-413f-b851-d6834173d5f0 g.chr1:26349783C>T ENST00000374280.3 + 1 1513 c.646C>T c.(646-648)Cgg>Tgg p.R216W EXTL1_ENST00000484339.1_3'UTR NM_004455.2 NP_004446.2 Q92935 EXTL1_HUMAN exostosin-like glycosyltransferase 1 216 skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1) 23 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) TGGCCAGCTGCGGCAACACAG 0.697 4 20 --- --- --- --- IFI16 3428 broad.mit.edu 37 1 158988436 158988436 + Missense_Mutation SNP C C T TCGA-HC-8257-01A-11D-2260-08 TCGA-HC-8257-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7373089-17c1-4809-b236-dec22225a3f0 1b6bdf28-2065-413f-b851-d6834173d5f0 g.chr1:158988436C>T ENST00000295809.7 + 5 1222 c.967C>T c.(967-969)Cat>Tat p.H323Y IFI16_ENST00000359709.3_Missense_Mutation_p.H267Y|IFI16_ENST00000368131.4_Missense_Mutation_p.H323Y|IFI16_ENST00000340979.6_Missense_Mutation_p.H323Y|IFI16_ENST00000430894.2_Missense_Mutation_p.H271Y|IFI16_ENST00000448393.2_Missense_Mutation_p.H323Y|IFI16_ENST00000368132.3_Missense_Mutation_p.H323Y Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 323 HIN-200 1. cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0429) ATTTATGCTACATAAGGTAAG 0.338 16 15 --- --- --- --- PTPRC 5788 broad.mit.edu 37 1 198719701 198719701 + Silent SNP C C T TCGA-HC-8257-01A-11D-2260-08 TCGA-HC-8257-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7373089-17c1-4809-b236-dec22225a3f0 1b6bdf28-2065-413f-b851-d6834173d5f0 g.chr1:198719701C>T ENST00000367376.2 + 29 3318 c.3147C>T c.(3145-3147)ttC>ttT p.F1049F PTPRC_ENST00000352140.3_Silent_p.F1001F|PTPRC_ENST00000348564.6_Silent_p.F890F|PTPRC_ENST00000442510.2_Silent_p.F1051F|PTPRC_ENST00000594404.1_Silent_p.F888F NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 1049 Tyrosine-protein phosphatase 2. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 AGATGATCTTCCAAAGAAAAG 0.393 13 83 --- --- --- --- OR2T2 401992 broad.mit.edu 37 1 248616338 248616338 + Silent SNP C C T rs145622684 TCGA-HC-8257-01A-11D-2260-08 TCGA-HC-8257-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7373089-17c1-4809-b236-dec22225a3f0 1b6bdf28-2065-413f-b851-d6834173d5f0 g.chr1:248616338C>T ENST00000342927.3 + 1 262 c.240C>T c.(238-240)ccC>ccT p.P80P NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 80 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) TCACTGTCCCCAAGATGCTCC 0.522 6 174 --- --- --- --- SH3BP5L 80851 broad.mit.edu 37 1 249118997 249118997 + Silent SNP G G T TCGA-HC-8257-01A-11D-2260-08 TCGA-HC-8257-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7373089-17c1-4809-b236-dec22225a3f0 1b6bdf28-2065-413f-b851-d6834173d5f0 g.chr1:249118997G>T ENST00000366472.5 - 2 1367 c.138C>A c.(136-138)gcC>gcA p.A46A SH3BP5L_ENST00000475978.1_5'UTR NM_030645.1 NP_085148.1 Q7L8J4 3BP5L_HUMAN SH3-binding domain protein 5-like 46 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) GGGACAATTTGGCCTCACTGC 0.577 64 131 --- --- --- --- LTBP1 4052 broad.mit.edu 37 2 33567955 33567955 + Missense_Mutation SNP G G A TCGA-HC-8257-01A-11D-2260-08 TCGA-HC-8257-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7373089-17c1-4809-b236-dec22225a3f0 1b6bdf28-2065-413f-b851-d6834173d5f0 g.chr2:33567955G>A ENST00000404816.2 + 25 4134 c.3781G>A c.(3781-3783)Gac>Aac p.D1261N LTBP1_ENST00000402934.1_Missense_Mutation_p.D882N|LTBP1_ENST00000407925.1_Missense_Mutation_p.D935N|LTBP1_ENST00000272273.5_Intron|LTBP1_ENST00000418533.2_Intron|LTBP1_ENST00000404525.1_Missense_Mutation_p.D882N|LTBP1_ENST00000390003.4_Missense_Mutation_p.D936N|LTBP1_ENST00000354476.3_Missense_Mutation_p.D1262N Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 1261 EGF-like 13; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CGGGTTTTGTGACAATACAGC 0.448 5 75 --- --- --- --- NCKAP5 344148 broad.mit.edu 37 2 133489328 133489328 + Missense_Mutation SNP G G A TCGA-HC-8257-01A-11D-2260-08 TCGA-HC-8257-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7373089-17c1-4809-b236-dec22225a3f0 1b6bdf28-2065-413f-b851-d6834173d5f0 g.chr2:133489328G>A ENST00000409261.1 - 17 5798 c.5425C>T c.(5425-5427)Ccc>Tcc p.P1809S NCKAP5_ENST00000405974.3_Missense_Mutation_p.P490S|NCKAP5_ENST00000409213.1_Missense_Mutation_p.P490S|NCKAP5_ENST00000317721.6_Missense_Mutation_p.P1809S NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1809 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 GCTGGTTTGGGGAGGCGGCTC 0.512 3 32 --- --- --- --- NRP2 8828 broad.mit.edu 37 2 206562279 206562279 + Missense_Mutation SNP G G A TCGA-HC-8257-01A-11D-2260-08 TCGA-HC-8257-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7373089-17c1-4809-b236-dec22225a3f0 1b6bdf28-2065-413f-b851-d6834173d5f0 g.chr2:206562279G>A ENST00000360409.3 + 2 876 c.85G>A c.(85-87)Gga>Aga p.G29R NRP2_ENST00000540178.1_Missense_Mutation_p.G29R|NRP2_ENST00000417189.1_Missense_Mutation_p.G29R|NRP2_ENST00000272849.3_Missense_Mutation_p.G29R|NRP2_ENST00000357785.5_Missense_Mutation_p.G29R|NRP2_ENST00000540841.1_Missense_Mutation_p.G29R|NRP2_ENST00000412873.2_Missense_Mutation_p.G29R|NRP2_ENST00000357118.4_Missense_Mutation_p.G29R|NRP2_ENST00000355117.4_Missense_Mutation_p.G29R NM_003872.2|NM_201266.1|NM_201279.1 NP_003863.2|NP_957718|NP_958436.1 O60462 NRP2_HUMAN neuropilin 2 29 CUB 1. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity p.G29*(4) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 CCCACCGTGCGGAGGTCGTTT 0.512 143 316 --- --- --- --- ZNF385D 79750 broad.mit.edu 37 3 21606147 21606147 + Missense_Mutation SNP G G T TCGA-HC-8257-01A-11D-2260-08 TCGA-HC-8257-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7373089-17c1-4809-b236-dec22225a3f0 1b6bdf28-2065-413f-b851-d6834173d5f0 g.chr3:21606147G>T ENST00000281523.2 - 3 713 c.195C>A c.(193-195)aaC>aaA p.N65K ZNF385D_ENST00000494118.1_5'UTR|ZNF385D-AS1_ENST00000412369.1_RNA NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 65 nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 CGAATGTATGGTTTATTACAG 0.348 26 65 --- --- --- --- CCDC66 285331 broad.mit.edu 37 3 56651182 56651182 + Missense_Mutation SNP G G A TCGA-HC-8257-01A-11D-2260-08 TCGA-HC-8257-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7373089-17c1-4809-b236-dec22225a3f0 1b6bdf28-2065-413f-b851-d6834173d5f0 g.chr3:56651182G>A ENST00000394672.3 + 14 1956 c.1886G>A c.(1885-1887)tGt>tAt p.C629Y CCDC66_ENST00000436465.2_Missense_Mutation_p.C629Y|CCDC66_ENST00000326595.7_Missense_Mutation_p.C595Y NM_001012506.4|NM_001141947.1 NP_001012524.4|NP_001135419.1 A2RUB6 CCD66_HUMAN coiled-coil domain containing 66 629 breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233) GAATCACATTGTGGATCATTA 0.299 9 37 --- --- --- --- C4orf19 55286 broad.mit.edu 37 4 37592096 37592096 + Missense_Mutation SNP G G T TCGA-HC-8257-01A-11D-2260-08 TCGA-HC-8257-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7373089-17c1-4809-b236-dec22225a3f0 1b6bdf28-2065-413f-b851-d6834173d5f0 g.chr4:37592096G>T ENST00000284437.6 + 3 597 c.419G>T c.(418-420)gGg>gTg p.G140V C4orf19_ENST00000381980.4_Missense_Mutation_p.G140V|C4orf19_ENST00000508175.1_Intron NM_018302.2 NP_060772.2 Q8IY42 CD019_HUMAN chromosome 4 open reading frame 19 140 large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1) 9 CTGGAAGGAGGGGGCACCAGG 0.577 3 88 --- --- --- --- FAM13A 10144 broad.mit.edu 37 4 89671667 89671667 + Silent SNP G G C TCGA-HC-8257-01A-11D-2260-08 TCGA-HC-8257-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7373089-17c1-4809-b236-dec22225a3f0 1b6bdf28-2065-413f-b851-d6834173d5f0 g.chr4:89671667G>C ENST00000264344.5 - 15 2055 c.1848C>G c.(1846-1848)ctC>ctG p.L616L FAM13A_ENST00000503556.1_Silent_p.L276L|FAM13A_ENST00000508369.1_Silent_p.L290L|FAM13A_ENST00000511976.1_Silent_p.L202L|FAM13A_ENST00000513837.1_Silent_p.L262L|FAM13A_ENST00000395002.2_Silent_p.L290L NM_014883.3 NP_055698.2 O94988 FA13A_HUMAN family with sequence similarity 13, member A 616 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 55 ACCGAGGAGAGAGCATGGGGT 0.577 31 51 --- --- --- --- CMYA5 202333 broad.mit.edu 37 5 79028525 79028525 + Missense_Mutation SNP C C T TCGA-HC-8257-01A-11D-2260-08 TCGA-HC-8257-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7373089-17c1-4809-b236-dec22225a3f0 1b6bdf28-2065-413f-b851-d6834173d5f0 g.chr5:79028525C>T ENST00000446378.2 + 2 3968 c.3937C>T c.(3937-3939)Cct>Tct p.P1313S NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1313 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AACAACTACACCTATAGTGCT 0.378 4 11 --- --- --- --- VCAN 1462 broad.mit.edu 37 5 82849251 82849251 + Missense_Mutation SNP C C T TCGA-HC-8257-01A-11D-2260-08 TCGA-HC-8257-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7373089-17c1-4809-b236-dec22225a3f0 1b6bdf28-2065-413f-b851-d6834173d5f0 g.chr5:82849251C>T ENST00000265077.3 + 11 10127 c.9562C>T c.(9562-9564)Cgc>Tgc p.R3188C VCAN_ENST00000502527.2_Missense_Mutation_p.R447C|VCAN_ENST00000512590.2_Missense_Mutation_p.R1386C|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Missense_Mutation_p.R1434C|VCAN_ENST00000343200.5_Missense_Mutation_p.R2201C|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 3188 C-type lectin. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TGCCCATCGACGCACATGGGA 0.483 31 174 --- --- --- --- ST8SIA4 7903 broad.mit.edu 37 5 100231395 100231395 + Missense_Mutation SNP C C G TCGA-HC-8257-01A-11D-2260-08 TCGA-HC-8257-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7373089-17c1-4809-b236-dec22225a3f0 1b6bdf28-2065-413f-b851-d6834173d5f0 g.chr5:100231395C>G ENST00000231461.5 - 2 518 c.208G>C c.(208-210)Ggt>Cgt p.G70R ST8SIA4_ENST00000451528.2_Missense_Mutation_p.G70R NM_005668.4 NP_005659.1 Q92187 SIA8D_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 70 axon guidance|N-glycan processing integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1) 25 all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203) COAD - Colon adenocarcinoma(37;0.00402) ATTTTCCAACCTTCTACATTG 0.388 17 42 --- --- --- --- MUC3A 4584 broad.mit.edu 37 7 100609803 100609803 + Splice_Site SNP A A T TCGA-HC-8257-01A-11D-2260-08 TCGA-HC-8257-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7373089-17c1-4809-b236-dec22225a3f0 1b6bdf28-2065-413f-b851-d6834173d5f0 g.chr7:100609803A>T ENST00000319509.7 + 9 2444 c.e9-1 RP11-395B7.2_ENST00000420080.1_RNA mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 GGCCCCACCTAGGTCCTGGGA 0.692 7 91 --- --- --- --- MTBP 27085 broad.mit.edu 37 8 121519023 121519023 + Missense_Mutation SNP A A T TCGA-HC-8257-01A-11D-2260-08 TCGA-HC-8257-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7373089-17c1-4809-b236-dec22225a3f0 1b6bdf28-2065-413f-b851-d6834173d5f0 g.chr8:121519023A>T ENST00000305949.1 + 16 1850 c.1805A>T c.(1804-1806)gAt>gTt p.D602V NM_022045.4 NP_071328.2 Q96DY7 MTBP_HUMAN Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa 602 Interaction with MDM2 (By similarity). cell cycle arrest NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) ACATTGTTGGATGCTAAAGAA 0.398 18 56 --- --- --- --- TG 7038 broad.mit.edu 37 8 134026000 134026000 + Missense_Mutation SNP C C T TCGA-HC-8257-01A-11D-2260-08 TCGA-HC-8257-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7373089-17c1-4809-b236-dec22225a3f0 1b6bdf28-2065-413f-b851-d6834173d5f0 g.chr8:134026000C>T ENST00000220616.4 + 37 6593 c.6553C>T c.(6553-6555)Cgg>Tgg p.R2185W TG_ENST00000377869.1_Missense_Mutation_p.R2128W|TG_ENST00000542445.1_Missense_Mutation_p.R555W|TG_ENST00000522523.1_3'UTR|TG_ENST00000519543.1_Missense_Mutation_p.R318W NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2185 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity 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) CCACATCTACCGGAAGCCAGG 0.517 6 22 --- --- --- --- C9orf84 158401 broad.mit.edu 37 9 114468873 114468873 + Silent SNP C C A TCGA-HC-8257-01A-11D-2260-08 TCGA-HC-8257-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7373089-17c1-4809-b236-dec22225a3f0 1b6bdf28-2065-413f-b851-d6834173d5f0 g.chr9:114468873C>A ENST00000394779.3 - 16 2647 c.2403G>T c.(2401-2403)gtG>gtT p.V801V C9orf84_ENST00000318737.4_Silent_p.V840V|C9orf84_ENST00000374287.3_Silent_p.V840V|C9orf84_ENST00000394777.4_Silent_p.V766V NM_001080551.1 NP_001074020.1 Q5VXU9 CI084_HUMAN chromosome 9 open reading frame 84 840 breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 CTGGAAGAATCACTTTAAAGG 0.299 39 71 --- --- --- --- GAD2 2572 broad.mit.edu 37 10 26506583 26506583 + Missense_Mutation SNP G G A TCGA-HC-8257-01A-11D-2260-08 TCGA-HC-8257-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7373089-17c1-4809-b236-dec22225a3f0 1b6bdf28-2065-413f-b851-d6834173d5f0 g.chr10:26506583G>A ENST00000376261.3 + 2 624 c.121G>A c.(121-123)Gga>Aga p.G41R GAD2_ENST00000259271.3_Missense_Mutation_p.G41R NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 41 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) GGGCGGCATCGGAAACAAACT 0.632 3 27 --- --- --- --- ARAP1 116985 broad.mit.edu 37 11 72420926 72420926 + Silent SNP G G A TCGA-HC-8257-01A-11D-2260-08 TCGA-HC-8257-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7373089-17c1-4809-b236-dec22225a3f0 1b6bdf28-2065-413f-b851-d6834173d5f0 g.chr11:72420926G>A ENST00000359373.5 - 11 2363 c.1512C>T c.(1510-1512)taC>taT p.Y504Y ARAP1_ENST00000426523.1_Silent_p.Y259Y|ARAP1_ENST00000334211.8_Silent_p.Y259Y|ARAP1_ENST00000455638.2_Silent_p.Y504Y|ARAP1_ENST00000429686.1_Silent_p.Y259Y|ARAP1_ENST00000393609.3_Silent_p.Y504Y|ARAP1_ENST00000393605.3_Silent_p.Y264Y Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 504 PH 2. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 TGAAGATGCGGTAGGGCGTGG 0.577 4 174 --- --- --- --- MTERFD3 80298 broad.mit.edu 37 12 107371603 107371603 + Missense_Mutation SNP G G A TCGA-HC-8257-01A-11D-2260-08 TCGA-HC-8257-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7373089-17c1-4809-b236-dec22225a3f0 1b6bdf28-2065-413f-b851-d6834173d5f0 g.chr12:107371603G>A ENST00000552029.1 - 2 2958 c.890C>T c.(889-891)cCa>cTa p.P297L C12orf23_ENST00000551237.1_Intron|MTERFD3_ENST00000240050.4_Missense_Mutation_p.P297L|MTERFD3_ENST00000392830.2_Missense_Mutation_p.P297L Q49AM1 MTER3_HUMAN MTERF domain containing 3 297 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial nucleoid transcription regulatory region DNA binding breast(1)|kidney(1)|large_intestine(2)|lung(3) 7 TTCTAAAACTGGAACAGAATA 0.348 23 49 --- --- --- --- VWA8 23078 broad.mit.edu 37 13 42259307 42259307 + Silent SNP G G A TCGA-HC-8257-01A-11D-2260-08 TCGA-HC-8257-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7373089-17c1-4809-b236-dec22225a3f0 1b6bdf28-2065-413f-b851-d6834173d5f0 g.chr13:42259307G>A ENST00000379310.3 - 35 4271 c.4203C>T c.(4201-4203)ttC>ttT p.F1401F NM_015058.1 NP_055873.1 von Willebrand factor A domain containing 8 TTCCTCTATAGAATGATGTAT 0.393 7 28 --- --- --- --- KCNRG 283518 broad.mit.edu 37 13 50594457 50594457 + Missense_Mutation SNP G G T TCGA-HC-8257-01A-11D-2260-08 TCGA-HC-8257-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7373089-17c1-4809-b236-dec22225a3f0 1b6bdf28-2065-413f-b851-d6834173d5f0 g.chr13:50594457G>T ENST00000312942.1 + 2 926 c.686G>T c.(685-687)aGa>aTa p.R229I TRIM13_ENST00000478111.1_3'UTR|KCNRG_ENST00000360473.4_3'UTR NM_173605.1 NP_775876.1 Q8N5I3 KCNRG_HUMAN potassium channel regulator 229 voltage-gated potassium channel complex identical protein binding|voltage-gated potassium channel activity haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3) 9 Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204) GTCAGCACTAGAACAGTATCT 0.388 11 23 --- --- --- --- FLRT2 23768 broad.mit.edu 37 14 86089672 86089672 + Missense_Mutation SNP C C A TCGA-HC-8257-01A-11D-2260-08 TCGA-HC-8257-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7373089-17c1-4809-b236-dec22225a3f0 1b6bdf28-2065-413f-b851-d6834173d5f0 g.chr14:86089672C>A ENST00000330753.4 + 2 2581 c.1814C>A c.(1813-1815)aCc>aAc p.T605N FLRT2_ENST00000554746.1_Missense_Mutation_p.T605N NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 605 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) ATGACAGAAACCAGTTTTCAG 0.473 4 160 --- --- --- --- CCNF 899 broad.mit.edu 37 16 2506639 2506639 + Missense_Mutation SNP C C T TCGA-HC-8257-01A-11D-2260-08 TCGA-HC-8257-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7373089-17c1-4809-b236-dec22225a3f0 1b6bdf28-2065-413f-b851-d6834173d5f0 g.chr16:2506639C>T ENST00000397066.4 + 17 2067 c.1979C>T c.(1978-1980)cCa>cTa p.P660L RP11-715J22.4_ENST00000566085.1_lincRNA NM_001761.2 NP_001752.2 P41002 CCNF_HUMAN cyclin F 660 PEST. cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process centriole|nucleus|SCF ubiquitin ligase complex protein binding breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1) 20 Ovarian(90;0.17) GAGGCTTGTCCAGAGGACAAG 0.632 5 38 --- --- --- --- C16orf70 80262 broad.mit.edu 37 16 67159901 67159901 + Missense_Mutation SNP G G T TCGA-HC-8257-01A-11D-2260-08 TCGA-HC-8257-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7373089-17c1-4809-b236-dec22225a3f0 1b6bdf28-2065-413f-b851-d6834173d5f0 g.chr16:67159901G>T ENST00000219139.3 + 3 375 c.187G>T c.(187-189)Gac>Tac p.D63Y C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Missense_Mutation_p.D63Y NM_025187.3 NP_079463.2 Q9BSU1 CP070_HUMAN chromosome 16 open reading frame 70 63 cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579) CCTGACTCAGGACGGGATCAA 0.378 32 81 --- --- --- --- SNAI3 333929 broad.mit.edu 37 16 88747582 88747582 + Missense_Mutation SNP G G A rs139790709 TCGA-HC-8257-01A-11D-2260-08 TCGA-HC-8257-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7373089-17c1-4809-b236-dec22225a3f0 1b6bdf28-2065-413f-b851-d6834173d5f0 g.chr16:88747582G>A ENST00000332281.5 - 2 703 c.617C>T c.(616-618)aCg>aTg p.T206M SNAI3-AS1_ENST00000563261.1_RNA NM_178310.3 NP_840101.1 Q3KNW1 SNAI3_HUMAN snail family zinc finger 3 206 oxidation-reduction process copper ion binding|DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(80;0.048) GCAGGGCAGCGTGTGAGTGCG 0.612 16 168 --- --- --- --- TMEM102 284114 broad.mit.edu 37 17 7340329 7340329 + Missense_Mutation SNP C C T TCGA-HC-8257-01A-11D-2260-08 TCGA-HC-8257-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7373089-17c1-4809-b236-dec22225a3f0 1b6bdf28-2065-413f-b851-d6834173d5f0 g.chr17:7340329C>T ENST00000323206.1 + 3 1304 c.1031C>T c.(1030-1032)tCg>tTg p.S344L TMEM102_ENST00000396568.1_Missense_Mutation_p.S344L|RP11-104H15.9_ENST00000570444.1_RNA|RP11-104H15.7_ENST00000575310.1_RNA NM_178518.2 NP_848613.1 Q8N9M5 TM102_HUMAN transmembrane protein 102 344 regulation of apoptosis|response to cytokine stimulus|signal transduction cell surface|integral to membrane|intracellular protein binding kidney(1)|lung(3)|skin(1) 5 Prostate(122;0.173) GCCTCTGAGTCGGCTTCCTTC 0.726 6 6 --- --- --- --- STAC2 342667 broad.mit.edu 37 17 37369333 37369333 + Missense_Mutation SNP A A T TCGA-HC-8257-01A-11D-2260-08 TCGA-HC-8257-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7373089-17c1-4809-b236-dec22225a3f0 1b6bdf28-2065-413f-b851-d6834173d5f0 g.chr17:37369333A>T ENST00000333461.5 - 10 1415 c.1046T>A c.(1045-1047)gTg>gAg p.V349E NM_198993.3 NP_945344.1 Q6ZMT1 STAC2_HUMAN SH3 and cysteine rich domain 2 349 SH3. intracellular signal transduction metal ion binding NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2) 17 GCCTGGCCTCACCCGTTGCAC 0.602 4 85 --- --- --- --- EPX 8288 broad.mit.edu 37 17 56274484 56274484 + Missense_Mutation SNP C C T TCGA-HC-8257-01A-11D-2260-08 TCGA-HC-8257-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7373089-17c1-4809-b236-dec22225a3f0 1b6bdf28-2065-413f-b851-d6834173d5f0 g.chr17:56274484C>T ENST00000225371.5 + 7 1096 c.986C>T c.(985-987)aCc>aTc p.T329I NM_000502.4 NP_000493.1 P11678 PERE_HUMAN eosinophil peroxidase 329 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 48 CGCAACCGGACCAACTACCTG 0.622 51 87 --- --- --- --- ZNF407 55628 broad.mit.edu 37 18 72343683 72343683 + Missense_Mutation SNP A A T TCGA-HC-8257-01A-11D-2260-08 TCGA-HC-8257-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7373089-17c1-4809-b236-dec22225a3f0 1b6bdf28-2065-413f-b851-d6834173d5f0 g.chr18:72343683A>T ENST00000299687.5 + 1 708 c.708A>T c.(706-708)caA>caT p.Q236H ZNF407_ENST00000577538.1_Missense_Mutation_p.Q236H|ZNF407_ENST00000309902.6_Missense_Mutation_p.Q236H|ZNF407_ENST00000582337.1_Missense_Mutation_p.Q236H NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 236 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) ATATCAAACAAGCACATGGGC 0.443 31 76 --- --- --- --- AKAP8 10270 broad.mit.edu 37 19 15471682 15471682 + Missense_Mutation SNP C C T TCGA-HC-8257-01A-11D-2260-08 TCGA-HC-8257-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7373089-17c1-4809-b236-dec22225a3f0 1b6bdf28-2065-413f-b851-d6834173d5f0 g.chr19:15471682C>T ENST00000269701.2 - 12 1564 c.1504G>A c.(1504-1506)Gtg>Atg p.V502M NM_005858.3 NP_005849.1 O43823 AKAP8_HUMAN A kinase (PRKA) anchor protein 8 502 signal transduction nuclear matrix breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2) 26 TTGTGGTCCACGGAGTGCAGG 0.607 9 22 --- --- --- --- MLC1 23209 broad.mit.edu 37 22 50512646 50512646 + Splice_Site SNP G G A TCGA-HC-8257-01A-11D-2260-08 TCGA-HC-8257-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7373089-17c1-4809-b236-dec22225a3f0 1b6bdf28-2065-413f-b851-d6834173d5f0 g.chr22:50512646G>A ENST00000311597.5 - 8 1319 c.713C>T c.(712-714)gCc>gTc p.A238V MLC1_ENST00000538737.1_Splice_Site_p.A204V|MLC1_ENST00000395876.2_Splice_Site_p.A238V|MLC1_ENST00000450140.2_Splice_Site_p.A186V|MLC1_ENST00000431262.2_Splice_Site_p.A208V|MLC1_ENST00000535444.1_Splice_Site_p.A159V NM_015166.3 NP_055981.1 Q15049 MLC1_HUMAN megalencephalic leukoencephalopathy with subcortical cysts 1 238 basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction ion channel activity endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3) 18 all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113) READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216) GTTACTCACGGCCACTAGGAT 0.622 12 16 --- --- --- --- USP9X 8239 broad.mit.edu 37 X 40999970 40999970 + Missense_Mutation SNP A A G TCGA-HC-8257-01A-11D-2260-08 TCGA-HC-8257-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7373089-17c1-4809-b236-dec22225a3f0 1b6bdf28-2065-413f-b851-d6834173d5f0 g.chrX:40999970A>G ENST00000324545.8 + 7 1349 c.716A>G c.(715-717)gAt>gGt p.D239G USP9X_ENST00000378308.2_Missense_Mutation_p.D239G NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 ATTTTGCATGATCGTTTTATT 0.328 5 31 --- --- --- --- TRPM4 54795 broad.mit.edu 37 19 49713988 49713988 + Frame_Shift_Del DEL C C - TCGA-HC-8257-01A-11D-2260-08 TCGA-HC-8257-10A-01D-2260-08 Untested Somatic Phase_I WXS none Illumina GAIIx c7373089-17c1-4809-b236-dec22225a3f0 1b6bdf28-2065-413f-b851-d6834173d5f0 g.chr19:49713988delC ENST00000252826.5 + 22 3476 c.3350delC c.(3349-3351)gccfs p.A1117fs TRPM4_ENST00000355712.5_Frame_Shift_Del_p.A763fs|TRPM4_ENST00000427978.2_Frame_Shift_Del_p.A972fs NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 1117 Calmodulin-binding. dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) TCTAAGGAAGCCGAGCGGAAG 0.622 23 41 --- --- --- ---