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 YTHDF2 51441 broad.mit.edu 37 1 29070218 29070218 + Missense_Mutation SNP A A G TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr1:29070218A>G uc001brc.2 + 4 1933 c.1436A>G c.(1435-1437)TAC>TGC p.Y479C YTHDF2_uc001brd.2_Missense_Mutation_p.Y476C|YTHDF2_uc010ofx.1_Missense_Mutation_p.Y429C|YTHDF2_uc001bre.2_Missense_Mutation_p.Y429C NM_016258 NP_057342 Q9Y5A9 YTHD2_HUMAN high glucose-regulated protein 8 479 YTH. humoral immune response ovary(1)|skin(1) 2 Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) GCTGTGGACTACAACACATGT 0.493000 STK40 83931 broad.mit.edu 37 1 36809854 36809854 + Missense_Mutation SNP G G A TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr1:36809854G>A uc001cak.1 - 9 1158 c.751C>T c.(751-753)CGT>TGT p.R251C STK40_uc001cal.1_Missense_Mutation_p.R256C|STK40_uc001cam.1_Missense_Mutation_p.R251C|STK40_uc009vva.1_Missense_Mutation_p.R251C|STK40_uc001can.1_Missense_Mutation_p.R251C NM_032017 NP_114406 Q8N2I9 STK40_HUMAN serine/threonine kinase 40 251 Protein kinase. cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity ovary(1) 1 Myeloproliferative disorder(586;0.0393) GGCTTGCCACGGTACGGCCGG 0.637000 C1orf177 163747 broad.mit.edu 37 1 55277794 55277794 + Missense_Mutation SNP C C T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr1:55277794C>T uc001cyb.3 + 6 748 c.694C>T c.(694-696)CGC>TGC p.R232C C1orf177_uc001cya.3_Missense_Mutation_p.R232C NM_001110533 NP_001104003 Q3ZCV2 CA177_HUMAN hypothetical protein LOC163747 isoform 2 232 0 CGTCGGCACCCGCGGCCCCTA 0.577000 OR6Y1 391112 broad.mit.edu 37 1 158517584 158517584 + Silent SNP A A T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr1:158517584A>T uc010pil.1 - 1 312 c.312T>A c.(310-312)ACT>ACA p.T104T NM_001005189 NP_001005189 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, 104 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) AGTAAAGTTGAGTCATGCAGC 0.448000 CACNA1E 777 broad.mit.edu 37 1 181724450 181724450 + Silent SNP C C T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr1:181724450C>T uc001gow.2 + 28 4071 c.3906C>T c.(3904-3906)ATC>ATT p.I1302I CACNA1E_uc009wxs.2_Silent_p.I1190I|CACNA1E_uc001gox.1_Silent_p.I528I|CACNA1E_uc009wxt.2_Silent_p.I528I NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 1302 III.|Helical; Name=S5 of repeat III. energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 TCATGTTCATCTTTGCTGTCA 0.483000 RAB3GAP2 25782 broad.mit.edu 37 1 220357408 220357408 + Missense_Mutation SNP A A C TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr1:220357408A>C uc010puk.1 - 19 2132 c.1968T>G c.(1966-1968)GAT>GAG p.D656E RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.D236E NM_012414 NP_036546 Q9H2M9 RBGPR_HUMAN rab3 GTPase-activating protein, non-catalytic 656 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(131;0.0443) CTAAATGAAAATCAAGGGAAT 0.299000 ANO9 338440 broad.mit.edu 37 11 419621 419621 + Missense_Mutation SNP C C T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr11:419621C>T uc001lpi.2 - 20 1980 c.1895G>A c.(1894-1896)CGC>CAC p.R632H SIGIRR_uc001lpf.2_5'Flank|SIGIRR_uc001lpe.1_5'Flank|ANO9_uc001lph.2_Missense_Mutation_p.R325H|ANO9_uc010qvv.1_Missense_Mutation_p.R488H NM_001012302 NP_001012302 A1A5B4 ANO9_HUMAN tumor protein p53 inducible protein 5 632 Extracellular (Potential). chloride channel complex chloride channel activity central_nervous_system(2)|ovary(1)|skin(1) 4 TGGGCTATAGCGGTACTTGTA 0.567000 OR10A4 283297 broad.mit.edu 37 11 6898608 6898608 + Missense_Mutation SNP G G T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr11:6898608G>T uc010rat.1 + 1 730 c.730G>T c.(730-732)GCC>TCC p.A244S NM_207186 NP_997069 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, 244 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CACCTGTTCCGCCCACCTCTT 0.527000 MRVI1 10335 broad.mit.edu 37 11 10673689 10673689 + Silent SNP G G A TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr11:10673689G>A uc010rcc.1 - 2 494 c.108C>T c.(106-108)GAC>GAT p.D36D MRVI1_uc001miw.2_Silent_p.D27D|MRVI1_uc010rcb.1_Silent_p.D27D|MRVI1_uc009ygb.1_Translation_Start_Site|MRVI1_uc001mix.2_Translation_Start_Site|MRVI1_uc001miz.2_Intron|MRVI1_uc009ygc.1_Intron|MRVI1_uc010rcd.1_Silent_p.D36D|MRVI1_uc009ygd.1_Intron NM_001100167 NP_001093637 Q9Y6F6 MRVI1_HUMAN JAW1-related protein isoform c 27 platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum ovary(2)|central_nervous_system(1) 3 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) CCTCCGCTGCGTCAGCCCCAA 0.647000 METT5D1 196074 broad.mit.edu 37 11 28318379 28318379 + Missense_Mutation SNP G G A rs145080229 TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr11:28318379G>A uc001msh.2 + 6 1134 c.679G>A c.(679-681)GGG>AGG p.G227R METT5D1_uc001msg.2_Missense_Mutation_p.G227R|METT5D1_uc001mse.2_Missense_Mutation_p.R212Q|METT5D1_uc001msi.2_Missense_Mutation_p.G24R NM_001113528 NP_001107000 A6NJ78 MET15_HUMAN methyltransferase 5 domain containing 1 isoform 227 methyltransferase activity 0 AAGAACATACGGGGAGGAGAA 0.507000 FOLH1B 219595 broad.mit.edu 37 11 89395322 89395322 + Translation_Start_Site SNP C C T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr11:89395322C>T uc001pda.2 + 2 433 c.-93C>T c.(-95--91)TACGC>TATGC NM_153696 NP_710163 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity ovary(3)|skin(2)|central_nervous_system(1) 6 TTTCAGAATACGCTTATAGGC 0.328000 CUL5 8065 broad.mit.edu 37 11 107960310 107960310 + Missense_Mutation SNP C C T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr11:107960310C>T uc001pjv.2 + 13 2070 c.1403C>T c.(1402-1404)GCC>GTC p.A468V CUL5_uc001pju.2_RNA NM_003478 NP_003469 Q93034 CUL5_HUMAN Vasopressin-activated calcium-mobilizing 468 cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction cullin-RING ubiquitin ligase complex|cytosol calcium channel activity|receptor activity|ubiquitin protein ligase binding ovary(1) 1 all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217) GACATCTCTGCCGATAGTGAA 0.308000 DSCAML1 57453 broad.mit.edu 37 11 117299181 117299181 + Missense_Mutation SNP C C T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr11:117299181C>T uc001prh.1 - 33 6207 c.6205G>A c.(6205-6207)GAG>AAG p.E2069K NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 2009 Cytoplasmic (Potential).|Pro-rich. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CGTGGAGGCTCGGTGCTGGGG 0.736000 ALDH1L2 160428 broad.mit.edu 37 12 105433512 105433512 + Missense_Mutation SNP A A G TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr12:105433512A>G uc001tlc.2 - 17 2151 c.2024T>C c.(2023-2025)ATT>ACT p.I675T ALDH1L2_uc009zuo.2_Missense_Mutation_p.I130T|ALDH1L2_uc009zup.2_RNA NM_001034173 NP_001029345 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 675 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process mitochondrion acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding skin(1) 1 CTGTTTGCCAATAGGAGTGGA 0.393000 TMEM132D 121256 broad.mit.edu 37 12 129563254 129563254 + Missense_Mutation SNP G G A TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr12:129563254G>A uc009zyl.1 - 8 2268 c.1940C>T c.(1939-1941)TCA>TTA p.S647L TMEM132D_uc001uia.2_Missense_Mutation_p.S185L NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 647 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GATGGTGTCTGACAGAGGAGA 0.567000 TMEM132D 121256 broad.mit.edu 37 12 130185232 130185232 + Silent SNP G G T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr12:130185232G>T uc009zyl.1 - 2 419 c.91C>A c.(91-93)CGA>AGA p.R31R NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 31 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) AGGATCCCTCGACCTTCCGTC 0.443000 TMCO3 55002 broad.mit.edu 37 13 114193756 114193756 + Missense_Mutation SNP G G A TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr13:114193756G>A uc001vtu.3 + 10 1985 c.1624G>A c.(1624-1626)GAG>AAG p.E542K NM_017905 NP_060375 Q6UWJ1 TMCO3_HUMAN transmembrane and coiled-coil domains 3 542 integral to membrane solute:hydrogen antiporter activity 0 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983) all cancers(43;0.0317) CGTGGTCACCGAGGAGATCGC 0.577000 SPG11 80208 broad.mit.edu 37 15 44913993 44913993 + Nonsense_Mutation SNP G G A TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr15:44913993G>A uc001ztx.2 - 14 2615 c.2584C>T c.(2584-2586)CAA>TAA p.Q862* SPG11_uc010ueh.1_Nonsense_Mutation_p.Q862*|SPG11_uc010uei.1_Nonsense_Mutation_p.Q862*|SPG11_uc001ztz.1_5'Flank NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN spatacsin isoform 1 862 Extracellular (Potential). cell death cytosol|integral to membrane|nucleus protein binding ovary(4)|skin(1) 5 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) ATGGATTCTTGTGTTAGTTGA 0.373000 HCN4 10021 broad.mit.edu 37 15 73617682 73617682 + Missense_Mutation SNP T T A TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr15:73617682T>A uc002avp.2 - 5 2688 c.1694A>T c.(1693-1695)GAC>GTC p.D565V NM_005477 NP_005468 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic 565 Cytoplasmic (Potential). blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity ovary(5)|liver(1) 6 COAD - Colon adenocarcinoma(1;0.142) GCTCTCCTCGTCGAACATCTT 0.657000 NARFL 64428 broad.mit.edu 37 16 780985 780985 + Silent SNP C C T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr16:780985C>T uc002cjr.2 - 10 1062 c.1050G>A c.(1048-1050)CAG>CAA p.Q350Q NARFL_uc002cjp.2_Silent_p.Q248Q|NARFL_uc002cjq.2_Silent_p.Q248Q|NARFL_uc002cjs.2_Silent_p.Q132Q NM_022493 NP_071938 Q9H6Q4 NARFL_HUMAN nuclear prelamin A recognition factor-like 350 iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia 4 iron, 4 sulfur cluster binding|metal ion binding 0 Hepatocellular(780;0.0218) GTGTCACCTCCTGGAAGTCTT 0.627000 KIF2B 84643 broad.mit.edu 37 17 51900853 51900853 + Missense_Mutation SNP C C G TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr17:51900853C>G uc002iua.2 + 1 615 c.459C>G c.(457-459)ATC>ATG p.I153M uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 153 Potential. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 TCTGGGAAATCCAGAAACTGC 0.557000 SLC25A10 1468 broad.mit.edu 37 17 79686863 79686863 + Silent SNP C C T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr17:79686863C>T uc002kbi.2 + 10 794 c.708C>T c.(706-708)GGC>GGT p.G236G SLC25A10_uc010wut.1_Silent_p.G391G|SLC25A10_uc010dif.2_Silent_p.G245G|SLC25A10_uc010wuu.1_Silent_p.G190G NM_012140 NP_036272 Q9UBX3 DIC_HUMAN solute carrier family 25 (mitochondrial carrier; 236 Solcar 3. gluconeogenesis|mitochondrial transport integral to membrane|mitochondrial inner membrane|nucleus protein binding 0 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) Succinic acid(DB00139) TTCTGCAGGGCGTTTTCCACT 0.617000 RIT2 6014 broad.mit.edu 37 18 40503659 40503659 + Missense_Mutation SNP T T A TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr18:40503659T>A uc002lav.2 - 4 477 c.304A>T c.(304-306)ACT>TCT p.T102S RIT2_uc010dnf.2_Missense_Mutation_p.T102S NM_002930 NP_002921 Q99578 RIT2_HUMAN Ras-like without CAAX 2 102 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity ovary(1) 1 TGACGGTCAGTGACGGAGTAG 0.463000 SMAD4 4089 broad.mit.edu 37 18 48591925 48591925 + Missense_Mutation SNP G G A TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr18:48591925G>A uc010xdp.1 + 9 1626 c.1088G>A c.(1087-1089)TGT>TAT p.C363Y SMAD4_uc002lfb.3_Missense_Mutation_p.C208Y NM_005359 NP_005350 Q13485 SMAD4_HUMAN mothers against decapentaplegic homolog 4 363 MH2. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(35)|p.?(2)|p.C363R(1)|p.C363S(1) pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1) 369 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) GATCGCTTTTGTTTGGGTCAA 0.418000 Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia ZNF607 84775 broad.mit.edu 37 19 38190612 38190612 + Silent SNP T T C TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr19:38190612T>C uc002ohc.1 - 5 1016 c.420A>G c.(418-420)GAA>GAG p.E140E ZNF607_uc002ohb.1_Silent_p.E139E NM_032689 NP_116078 Q96SK3 ZN607_HUMAN zinc finger protein 607 140 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) ATTGATCAGGTTCCTCACTAG 0.363000 RYR1 6261 broad.mit.edu 37 19 39016073 39016073 + Silent SNP C C G TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr19:39016073C>G uc002oit.2 + 71 10687 c.10557C>G c.(10555-10557)CCC>CCG p.P3519P RYR1_uc002oiu.2_Silent_p.P3514P|RYR1_uc002oiv.1_Silent_p.P434P|RYR1_uc010xuf.1_Silent_p.P439P NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 3519 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AGATGCTGCCCATCGGCCTGA 0.637000 FCGBP 8857 broad.mit.edu 37 19 40389651 40389651 + Splice_Site SNP C C T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr19:40389651C>T uc002omp.3 - 18 8538 c.8530_splice c.e18+1 p.D2844_splice NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) cagcccagcACCTTTGTTGAC 0.542000 KLC3 147700 broad.mit.edu 37 19 45854575 45854575 + Missense_Mutation SNP G G A TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr19:45854575G>A uc002pbf.1 + 13 1590 c.1475G>A c.(1474-1476)CGG>CAG p.R492Q KLC3_uc010ejy.1_Missense_Mutation_p.R491Q|KLC3_uc002pbg.1_Missense_Mutation_p.R506Q NM_177417 NP_803136 Q6P597 KLC3_HUMAN kinesin light chain 3 492 cytoplasm|kinesin complex|microtubule microtubule motor activity ovary(1) 1 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) AAGGCCCCTCGGACCCTCAGC 0.642000 LILRA2 11027 broad.mit.edu 37 19 55086394 55086394 + Silent SNP C C T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr19:55086394C>T uc002qgg.3 + 4 638 c.549C>T c.(547-549)GGC>GGT p.G183G LILRA2_uc010ern.2_Silent_p.G183G|LILRA2_uc002qgf.2_Silent_p.G183G|LILRA2_uc010yfe.1_Silent_p.G183G|LILRA2_uc010yff.1_Silent_p.G171G|LILRA2_uc010ero.2_Silent_p.G171G|LILRA2_uc010yfg.1_Silent_p.G183G NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 183 Extracellular (Potential).|Ig-like C2-type 2. defense response integral to membrane antigen binding|receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0963) TCTCCGTGGGCCCCGTGAGCC 0.577000 PTPRH 5794 broad.mit.edu 37 19 55703088 55703088 + Missense_Mutation SNP A A G TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr19:55703088A>G uc002qjq.2 - 11 2352 c.2279T>C c.(2278-2280)GTG>GCG p.V760A PTPRH_uc010esv.2_Missense_Mutation_p.V582A|uc002qjr.2_Missense_Mutation_p.T58A NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 760 Helical; (Potential). apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) GAGGATGCCCACAAAGGCTCC 0.617000 ZNF606 80095 broad.mit.edu 37 19 58489997 58489997 + Missense_Mutation SNP T T C TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr19:58489997T>C uc002qqw.2 - 7 2669 c.2051A>G c.(2050-2052)CAG>CGG p.Q684R ZNF606_uc010yhp.1_Missense_Mutation_p.Q594R NM_025027 NP_079303 Q8WXB4 ZN606_HUMAN zinc finger protein 606 684 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) TCTTTCACACTGATTACATTT 0.413000 LRP2 4036 broad.mit.edu 37 2 170033000 170033000 + Missense_Mutation SNP G G A TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr2:170033000G>A uc002ues.2 - 54 10705 c.10492C>T c.(10492-10494)CGC>TGC p.R3498C NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 3498 Extracellular (Potential).|EGF-like 13. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TGAAGGGTGCGGAAGTCATCT 0.532000 KCNG1 3755 broad.mit.edu 37 20 49626831 49626831 + Silent SNP C C T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr20:49626831C>T uc002xwa.3 - 2 340 c.45G>A c.(43-45)GCG>GCA p.A15A KCNG1_uc002xwb.2_Silent_p.A15A NM_002237 NP_002228 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, 15 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1)|central_nervous_system(1) 2 TGCAGCTCAGCGCGCTGTAGT 0.667000 YWHAH 7533 broad.mit.edu 37 22 32352435 32352435 + Missense_Mutation SNP T T G TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr22:32352435T>G uc003alz.2 + 2 638 c.397T>G c.(397-399)TAC>GAC p.Y133D YWHAH_uc010gwl.2_Missense_Mutation_p.Y63D|YWHAH_uc003ama.2_Missense_Mutation_p.Y63D|YWHAH_uc010gwm.2_Missense_Mutation_p.Y120D NM_003405 NP_003396 Q04917 1433F_HUMAN tyrosine 3-monooxygenase/tryptophan 133 glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity cytoplasm enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding central_nervous_system(1) 1 TTACTACCGCTACTTAGCAGA 0.453000 SGSM3 27352 broad.mit.edu 37 22 40800320 40800320 + Missense_Mutation SNP G G A rs73420601 by1000genomes TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr22:40800320G>A uc003ayu.1 + 5 436 c.227G>A c.(226-228)CGG>CAG p.R76Q SGSM3_uc010gyc.1_Missense_Mutation_p.R76Q|SGSM3_uc011aos.1_Missense_Mutation_p.R9Q|SGSM3_uc011aot.1_Missense_Mutation_p.R13Q|SGSM3_uc010gyd.1_Missense_Mutation_p.R76Q NM_015705 NP_056520 Q96HU1 SGSM3_HUMAN small G protein signaling modulator 3 76 cell cycle arrest|Rap protein signal transduction cytoplasm Rab GTPase activator activity|Rab GTPase binding ovary(2) 2 CAGAGGCTGCGGTGGCAGGCC 0.597000 ACO2 50 broad.mit.edu 37 22 41924552 41924552 + Missense_Mutation SNP G G A rs115203053 byFrequency TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr22:41924552G>A uc003bac.2 + 18 2300 c.2278G>A c.(2278-2280)GAG>AAG p.E760K ACO2_uc003bad.2_Missense_Mutation_p.E785K|POLR3H_uc003bae.2_RNA|POLR3H_uc003baf.2_3'UTR|POLR3H_uc003bag.2_3'UTR|POLR3H_uc003bai.2_3'UTR NM_001098 NP_001089 Q99798 ACON_HUMAN aconitase 2, mitochondrial precursor 760 citrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity breast(2)|ovary(1)|lung(1) 4 CACCTTCAACGAGACGCAGAT 0.607000 ITPR1 3708 broad.mit.edu 37 3 4699844 4699844 + Missense_Mutation SNP C C T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr3:4699844C>T uc003bqa.2 + 13 1381 c.1033C>T c.(1033-1035)CGG>TGG p.R345W ITPR1_uc010hca.1_Missense_Mutation_p.R330W|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.R330W NM_001099952 NP_001093422 Q14643 ITPR1_HUMAN inositol 1,4,5-triphosphate receptor, type 1 345 Cytoplasmic (Potential).|MIR 4. activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1) 21 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) AAGTAGGTTGCGGAATGCCCA 0.498000 RHOA 387 broad.mit.edu 37 3 49412907 49412907 + Missense_Mutation SNP A A C TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr3:49412907A>C uc003cwu.2 - 2 392 c.116T>G c.(115-117)TTT>TGT p.F39C RHOA_uc010hku.2_5'UTR NM_001664 NP_001655 P61586 RHOA_HUMAN ras homolog gene family, member A precursor 39 Effector region (Potential). axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) ATAGTTCTCAAACACTGTGGG 0.433000 P2RY14 9934 broad.mit.edu 37 3 150931958 150931958 + Silent SNP G G A TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr3:150931958G>A uc003eyr.1 - 3 625 c.147C>T c.(145-147)TAC>TAT p.Y49Y MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY14_uc003eys.1_Silent_p.Y49Y NM_001081455 NP_001074924 Q15391 P2Y14_HUMAN P2Y14 receptor 49 Helical; Name=1; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity large_intestine(2)|ovary(1)|lung(1) 4 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AGCTGGGCACGTAAAAGAATA 0.428000 ANTXR2 118429 broad.mit.edu 37 4 80975471 80975471 + Missense_Mutation SNP G G C TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr4:80975471G>C uc003hlz.3 - 7 1354 c.591C>G c.(589-591)TTC>TTG p.F197L ANTXR2_uc003hly.3_Missense_Mutation_p.F197L|ANTXR2_uc003hlx.1_RNA|ANTXR2_uc010ijn.2_Missense_Mutation_p.F197L NM_001145794 NP_001139266 P58335 ANTR2_HUMAN anthrax toxin receptor 2 isoform 2 197 Extracellular (Potential).|VWFA. endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane metal ion binding|protein binding|receptor activity ovary(1) 1 CTTTGACAGGGAAAACTTGCT 0.368000 Juvenile_Hyaline_Fibromatosis KIAA1109 84162 broad.mit.edu 37 4 123265668 123265668 + Missense_Mutation SNP G G T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr4:123265668G>T uc003ieh.2 + 72 12730 c.12685G>T c.(12685-12687)GTA>TTA p.V4229L KIAA1109_uc003iem.2_Missense_Mutation_p.V585L|KIAA1109_uc003ien.2_Missense_Mutation_p.V163L NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 4229 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 AAGTCAGTCTGTAAGCAAGTC 0.323000 GPR98 84059 broad.mit.edu 37 5 90052364 90052364 + Missense_Mutation SNP C C T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr5:90052364C>T uc003kju.2 + 56 11770 c.11674C>T c.(11674-11676)CGG>TGG p.R3892W GPR98_uc003kjt.2_Missense_Mutation_p.R1598W|GPR98_uc003kjv.2_Missense_Mutation_p.R1492W NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 3892 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GCCAAGTGTGCGGAGGCCCGG 0.438000 FEM1C 56929 broad.mit.edu 37 5 114878880 114878880 + Missense_Mutation SNP T T C TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr5:114878880T>C uc003krb.1 - 2 873 c.311A>G c.(310-312)AAT>AGT p.N104S NM_020177 NP_064562 Q96JP0 FEM1C_HUMAN feminization 1 homolog a 104 ANK 3. cytoplasm breast(2)|ovary(1) 3 all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05) TGCTCCATGATTTAACAAGGA 0.493000 KIF3A 11127 broad.mit.edu 37 5 132056301 132056301 + Missense_Mutation SNP G G A TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr5:132056301G>A uc003kxo.2 - 5 770 c.616C>T c.(616-618)CGT>TGT p.R206C KIF3A_uc003kxn.2_Missense_Mutation_p.R165C|KIF3A_uc011cxf.1_Missense_Mutation_p.R206C|KIF3A_uc003kxp.2_Missense_Mutation_p.R206C NM_007054 NP_008985 Q9Y496 KIF3A_HUMAN kinesin family member 3A 206 Kinesin-motor. blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule centrosome|cytosol|kinesin II complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|protein binding pancreas(1) 1 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTATACTTACGATTTTTGTGG 0.363000 GNB2L1 10399 broad.mit.edu 37 5 180665164 180665164 + Missense_Mutation SNP C C T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr5:180665164C>T uc003mni.1 - 6 818 c.712G>A c.(712-714)GCC>ACC p.A238T GNB2L1_uc003mnh.1_Missense_Mutation_p.A197T|GNB2L1_uc003mnk.1_Missense_Mutation_p.A160T|GNB2L1_uc003mnj.1_Missense_Mutation_p.A192T|GNB2L1_uc003mnl.1_Missense_Mutation_p.A22T NM_006098 NP_006089 P63244 GBLP_HUMAN guanine nucleotide binding protein (G protein), 238 WD 6. apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding 0 all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654) all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11) AAGCACAGGGCGTTGATGATG 0.542000 MDC1 9656 broad.mit.edu 37 6 30680092 30680092 + Missense_Mutation SNP C C T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr6:30680092C>T uc003nrg.3 - 5 2067 c.1627G>A c.(1627-1629)GTG>ATG p.V543M MDC1_uc003nrf.3_Missense_Mutation_p.V197M|MDC1_uc011dmp.1_Missense_Mutation_p.V415M|MDC1_uc003nrh.1_Missense_Mutation_p.V415M|MDC1_uc003nri.2_Missense_Mutation_p.V543M NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 543 Required for nuclear localization (NLS1). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 TCCACAGACACCTGATGCTTC 0.522000 Other_conserved_DNA_damage_response_genes MAGI2 9863 broad.mit.edu 37 7 79082564 79082564 + Missense_Mutation SNP C C T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr7:79082564C>T uc003ugx.2 - 1 327 c.73G>A c.(73-75)GAG>AAG p.E25K MAGI2_uc003ugy.2_Missense_Mutation_p.E25K|uc010lea.1_5'Flank NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 25 PDZ 1. cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) AGCTGGCCCTCCGGGTTCCTG 0.587000 PON1 5444 broad.mit.edu 37 7 94928393 94928393 + Silent SNP G G A TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr7:94928393G>A uc003uns.2 - 9 1028 c.931C>T c.(931-933)CTA>TTA p.L311L PON1_uc011kih.1_Silent_p.L311L NM_000446 NP_000437 P27169 PON1_HUMAN paraoxonase 1 precursor 311 aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus spherical high-density lipoprotein particle aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity pancreas(1) 1 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0031) Atorvastatin(DB01076)|Cefazolin(DB01327) TCTTCTGTTAGAATGTTCTGG 0.398000 ADAM28 10863 broad.mit.edu 37 8 24207414 24207414 + Silent SNP G G A TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr8:24207414G>A uc003xdy.2 + 19 2111 c.2028G>A c.(2026-2028)GCG>GCA p.A676A ADAM28_uc011laa.1_RNA|ADAM28_uc010lua.2_Silent_p.A363A NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 isoform 1 676 Helical; (Potential). proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding skin(3)|lung(1)|central_nervous_system(1) 5 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) TCCCAATGGCGGTCATTTTTG 0.502000 CSMD3 114788 broad.mit.edu 37 8 113243795 113243795 + Missense_Mutation SNP G G T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr8:113243795G>T uc003ynu.2 - 69 10966 c.10807C>A c.(10807-10809)CAA>AAA p.Q3603K CSMD3_uc003yns.2_Missense_Mutation_p.Q2805K|CSMD3_uc003ynt.2_Missense_Mutation_p.Q3563K|CSMD3_uc011lhx.1_Missense_Mutation_p.Q3434K NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3603 Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 AGGCCAAATTGTCCATAATCT 0.328000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) KIAA1797 54914 broad.mit.edu 37 9 20907176 20907176 + Missense_Mutation SNP C C T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr9:20907176C>T uc003zog.1 + 24 3016 c.2653C>T c.(2653-2655)CGT>TGT p.R885C KIAA1797_uc003zoh.1_Missense_Mutation_p.R321C NM_017794 NP_060264 Q5VW36 K1797_HUMAN hypothetical protein LOC54914 885 integral to membrane binding ovary(8)|breast(1)|kidney(1) 10 GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11) aGAGTGGCACCGTGCAATTTT 0.269000 IFNA10 3446 broad.mit.edu 37 9 21206898 21206898 + Missense_Mutation SNP C C G TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr9:21206898C>G uc003zoq.1 - 1 245 c.199G>C c.(199-201)GAT>CAT p.D67H IFNA14_uc003zoo.1_Intron NM_002171 NP_002162 P01566 IFN10_HUMAN interferon, alpha 10 precursor 67 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding 0 Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17) TGGTTGCCATCAAACTCCTCC 0.502000 GOLM1 51280 broad.mit.edu 37 9 88667485 88667485 + Missense_Mutation SNP T T A TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr9:88667485T>A uc004aol.2 - 4 529 c.331A>T c.(331-333)ACC>TCC p.T111S GOLM1_uc010mqd.1_Intron|GOLM1_uc004aom.2_Missense_Mutation_p.T111S NM_016548 NP_057632 Q8NBJ4 GOLM1_HUMAN golgi membrane protein 1 111 Potential.|Lumenal (Potential). Golgi apparatus|integral to plasma membrane 0 TCACCTGTGGTGATGTTATTC 0.512000 GOLM1 51280 broad.mit.edu 37 9 88667488 88667488 + Missense_Mutation SNP T T G TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr9:88667488T>G uc004aol.2 - 4 526 c.328A>C c.(328-330)ATC>CTC p.I110L GOLM1_uc010mqd.1_Intron|GOLM1_uc004aom.2_Missense_Mutation_p.I110L NM_016548 NP_057632 Q8NBJ4 GOLM1_HUMAN golgi membrane protein 1 110 Potential.|Lumenal (Potential). Golgi apparatus|integral to plasma membrane 0 CCTGTGGTGATGTTATTCACC 0.522000 OR1L3 26735 broad.mit.edu 37 9 125437839 125437839 + Missense_Mutation SNP T T C TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr9:125437839T>C uc011lzb.1 + 1 431 c.431T>C c.(430-432)CTA>CCA p.L144P NM_001005234 NP_001005234 Q8NH93 OR1L3_HUMAN olfactory receptor, family 1, subfamily L, 144 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TGTGTGTTGCTACTAGCATTC 0.448000 MRPL41 64975 broad.mit.edu 37 9 140446797 140446797 + Silent SNP C C T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr9:140446797C>T uc004cnh.3 + 2 394 c.264C>T c.(262-264)GCC>GCT p.A88A PNPLA7_uc010ncj.1_5'Flank|PNPLA7_uc004cnf.2_5'Flank NM_032477 NP_115866 Q8IXM3 RM41_HUMAN mitochondrial ribosomal protein L41 88 apoptosis|cell cycle|translation mitochondrial large ribosomal subunit structural constituent of ribosome 0 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106) CCCTGACGGCCGCGCAGCTCT 0.622000 CACNA1B 774 broad.mit.edu 37 9 140850187 140850187 + Missense_Mutation SNP C C T TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr9:140850187C>T uc004cog.2 + 8 1253 c.1108C>T c.(1108-1110)CGC>TGC p.R370C CACNA1B_uc011mfd.1_5'Flank NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 370 Cytoplasmic (Potential). membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GGAGAACCGCCGCGCCTTCCT 0.642000 ARID1A 8289 broad.mit.edu 37 1 27100199 27100200 + Frame_Shift_Ins INS - - G TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr1:27100199_27100200insG uc001bmv.1 + 16 4368_4369 c.3995_3996insG c.(3994-3996)CAGfs p.Q1332fs ARID1A_uc001bmt.1_Frame_Shift_Ins_p.Q1331fs|ARID1A_uc001bmu.1_Frame_Shift_Ins_p.Q1332fs|ARID1A_uc001bmw.1_Frame_Shift_Ins_p.Q949fs|ARID1A_uc001bmx.1_Frame_Shift_Ins_p.Q178fs|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1332 Gln-rich. androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.Q1332*(1) ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) cagcagcagcagcagcaACGGT 0.490 Mis|N|F|S|D clear cell ovarian carcinoma|RCC ALKBH6 84964 broad.mit.edu 37 19 36500365 36500365 + Frame_Shift_Del DEL G G - TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr19:36500365delG uc002oct.2 - 7 644 c.544delC c.(544-546)CACfs p.H182fs C19orf46_uc002ocr.1_5'Flank|C19orf46_uc002ocs.1_5'Flank|C19orf46_uc002ocq.1_5'Flank|C19orf46_uc010een.1_5'Flank|ALKBH6_uc002ocv.1_Frame_Shift_Del_p.H210fs|ALKBH6_uc002ocx.1_Frame_Shift_Del_p.H113fs|ALKBH6_uc002ocw.1_3'UTR|ALKBH6_uc010eeo.1_Frame_Shift_Del_p.H182fs NM_032878 NP_116267 Q3KRA9 ALKB6_HUMAN alkB, alkylation repair homolog 6 isoform 2 182 Fe2OG dioxygenase. Iron; catalytic (By similarity). cytoplasm|nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GCGATGCCGTGGAGAAGACGC 0.776 ITGAV 3685 broad.mit.edu 37 2 187540409 187540409 + Frame_Shift_Del DEL G G - rs146319338 byFrequency TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr2:187540409delG uc002upq.2 + 27 3061 c.2785delG c.(2785-2787)GTAfs p.V929fs ITGAV_uc010frs.2_Frame_Shift_Del_p.V893fs|ITGAV_uc010zfv.1_Frame_Shift_Del_p.V883fs NM_002210 NP_002201 P06756 ITAV_HUMAN integrin alpha-V isoform 1 precursor 929 Extracellular (Potential). angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) AATCTTGTACGTAAAGTCATT 0.398 ARID1A 8289 broad.mit.edu 37 1 27100200 27100201 + Frame_Shift_Ins INS - - G TCGA-BR-7722-01A-31D-2201-08 TCGA-BR-7722-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fa9cfba-0f49-47d0-ab54-9dd2144e0a73 1fd04123-dbaa-4c8c-9c89-b9cb1a30c14c g.chr1:27100199_27100200A>AG uc001bmv.1 + 15 4368_4369 c.3995_3996A>AG c.(3994-3996)cagfs p.Q1332fs ARID1A_uc001bmt.1_Frame_Shift_Ins_p.Q1331fs|ARID1A_uc001bmu.1_Frame_Shift_Ins_p.Q1332fs|ARID1A_uc001bmw.1_Frame_Shift_Ins_p.Q949fs|ARID1A_uc001bmx.1_Frame_Shift_Ins_p.Q178fs|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank NM_006015 NP_006006 O14497 ARI1A_HUMAN Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA. 1332 Gln-rich. androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent SWI/SNF complex|nBAF complex|npBAF complex DNA binding|protein binding p.Q1332*(1)|p.Q1331*(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) cagcagcagcagcagcaACGGT 0.569 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC"""