Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut HIF3A 64344 broad.mit.edu 37 19 46825036 46825036 + Missense_Mutation SNP C C T TCGA-H2-A26U-01A-11D-A16O-08 TCGA-H2-A26U-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a84193e-84f1-4729-b467-480c8b73e0e7 539571d0-752a-4bc0-ad14-71dbbe052642 g.chr19:46825036C>T ENST00000339613.2 + 10 1235 c.980C>T c.(979-981)aCc>aTc p.T327I HIF3A_ENST00000420102.2_Missense_Mutation_p.T332I|HIF3A_ENST00000244303.6_Missense_Mutation_p.T314I|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000600383.1_Missense_Mutation_p.T314I|HIF3A_ENST00000300862.3_Missense_Mutation_p.T381I|HIF3A_ENST00000377670.4_Missense_Mutation_p.T383I|HIF3A_ENST00000472815.1_Missense_Mutation_p.T314I Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 383 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) CCTGCAGACACCCCTGGCCCC 0.662000 38 93 0 0 0.002222 0 0 CUX1 1523 broad.mit.edu 37 7 101847718 101847718 + Silent SNP G G A TCGA-H2-A26U-01A-11D-A16O-08 TCGA-H2-A26U-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a84193e-84f1-4729-b467-480c8b73e0e7 539571d0-752a-4bc0-ad14-71dbbe052642 g.chr7:101847718G>A ENST00000360264.3 + 19 3008 c.2988G>A c.(2986-2988)ccG>ccA p.P996P CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000556210.1_Silent_p.P827P|CUX1_ENST00000549414.2_Silent_p.P963P|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Silent_p.P883P|CUX1_ENST00000550008.2_Silent_p.P929P|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292535.7_Silent_p.P985P|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 985 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 TGTCCCGACCGAAGCCATGGA 0.622000 7 108 0 0 0.001984 0 0 OR8I2 120586 broad.mit.edu 37 11 55861326 55861326 + Silent SNP A A G TCGA-H2-A26U-01A-11D-A16O-08 TCGA-H2-A26U-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a84193e-84f1-4729-b467-480c8b73e0e7 539571d0-752a-4bc0-ad14-71dbbe052642 g.chr11:55861326A>G ENST00000302124.2 + 1 574 c.543A>G c.(541-543)acA>acG p.T181T OR8I2_ENST00000560768.1_Silent_p.T181T Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 181 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) GTGACACCACAGCTCTTTTAG 0.433000 4 105 0 0 0.000602 0 0 FZD3 7976 broad.mit.edu 37 8 28409258 28409258 + Missense_Mutation SNP A A G TCGA-H2-A26U-01A-11D-A16O-08 TCGA-H2-A26U-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a84193e-84f1-4729-b467-480c8b73e0e7 539571d0-752a-4bc0-ad14-71dbbe052642 g.chr8:28409258A>G ENST00000240093.3 + 6 2021 c.1543A>G c.(1543-1545)Agg>Ggg p.R515G FZD3_ENST00000537916.1_Missense_Mutation_p.R515G NM_017412.3 NP_059108.1 Q9NPG1 FZD3_HUMAN frizzled family receptor 3 515 canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1) 41 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23) TCATGGTCGTAGGAAAAAAGA 0.358000 3 43 0 0 0.000248 0 0 RBM6 10180 broad.mit.edu 37 3 50005666 50005666 + Missense_Mutation SNP A A G TCGA-H2-A26U-01A-11D-A16O-08 TCGA-H2-A26U-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a84193e-84f1-4729-b467-480c8b73e0e7 539571d0-752a-4bc0-ad14-71dbbe052642 g.chr3:50005666A>G ENST00000443081.1 + 3 1331 c.412A>G c.(412-414)Agg>Ggg p.R138G RBM6_ENST00000266022.4_Missense_Mutation_p.R270G|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000441115.1_Intron P78332 RBM6_HUMAN RNA binding motif protein 6 270 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) TCAGGATTTTAGGGGCAGAGA 0.453000 3 78 0 0 0.000248 0 0 LAMA4 3910 broad.mit.edu 37 6 112469364 112469364 + Missense_Mutation SNP T T A TCGA-H2-A26U-01A-11D-A16O-08 TCGA-H2-A26U-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a84193e-84f1-4729-b467-480c8b73e0e7 539571d0-752a-4bc0-ad14-71dbbe052642 g.chr6:112469364T>A ENST00000230538.7 - 18 2745 c.2348A>T c.(2347-2349)gAt>gTt p.D783V LAMA4_ENST00000522006.1_Missense_Mutation_p.D776V|LAMA4_ENST00000424408.2_Missense_Mutation_p.D776V|LAMA4_ENST00000389463.4_Missense_Mutation_p.D776V NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 783 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) GATACCTGCATCCCTAGCAGA 0.393000 17 40 0 0 0.004007 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-H2-A26U-01A-11D-A16O-08 TCGA-H2-A26U-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a84193e-84f1-4729-b467-480c8b73e0e7 539571d0-752a-4bc0-ad14-71dbbe052642 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 8 47 0 0 0.006214 0 0 INTS3 65123 broad.mit.edu 37 1 153719545 153719545 + Splice_Site SNP A A G TCGA-H2-A26U-01A-11D-A16O-08 TCGA-H2-A26U-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a84193e-84f1-4729-b467-480c8b73e0e7 539571d0-752a-4bc0-ad14-71dbbe052642 g.chr1:153719545A>G ENST00000318967.2 + 4 999 c.432_splice c.e4+1 p.Q144_splice INTS3_ENST00000435409.2_Splice_Site_p.Q144_splice|INTS3_ENST00000456435.1_5'UTR|RP11-216N14.8_ENST00000453778.1_RNA NM_023015.3 NP_075391.3 Q68E01 INT3_HUMAN integrator complex subunit 3 144 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TGCCGTACTCAGGTAAGGCCA 0.463000 4 76 0 0 0.000248 0 0 ISG20L2 81875 broad.mit.edu 37 1 156694023 156694023 + Frame_Shift_Del DEL G G - TCGA-H2-A26U-01A-11D-A16O-08 TCGA-H2-A26U-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a84193e-84f1-4729-b467-480c8b73e0e7 539571d0-752a-4bc0-ad14-71dbbe052642 g.chr1:156694023delG ENST00000313146.6 - 2 1647 c.865delC c.(865-867)tcfs p.L289fs ISG20L2_ENST00000472824.1_5'UTR|ISG20L2_ENST00000368219.1_Frame_Shift_Del_p.L289fs NM_030980.1 NP_112242.1 Q9H9L3 I20L2_HUMAN interferon stimulated exonuclease gene 20kDa-like 2 289 Exonuclease. ribosome biogenesis nucleolus exonuclease activity|nucleic acid binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 16 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TTCCGGTTGAGGGGGGGGATA 0.557 7 186 --- --- --- --- CEP68 23177 broad.mit.edu 37 2 65301473 65301476 + Frame_Shift_Del DEL ACTG ACTG - TCGA-H2-A26U-01A-11D-A16O-08 TCGA-H2-A26U-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a84193e-84f1-4729-b467-480c8b73e0e7 539571d0-752a-4bc0-ad14-71dbbe052642 g.chr2:65301473_65301476delACTG ENST00000377990.2 + 4 2145_2148 c.1942_1945delACTG c.(1942-1947)acfs p.TD648fs CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000260569.4_Frame_Shift_Del_p.TD511fs|CEP68_ENST00000546106.1_Frame_Shift_Del_p.TD648fs|CEP68_ENST00000537589.1_3'UTR|RAB1A_ENST00000494188.1_Intron NM_015147.2 NP_055962.2 Q76N32 CEP68_HUMAN centrosomal protein 68kDa 648 centrosome organization centrosome breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 TGCAGATGTTACTGACCACGGGAC 0.480 20 77 --- --- --- --- KIF1A 547 broad.mit.edu 37 2 241696841 241696843 + In_Frame_Del DEL TCC TCC - rs71779512 TCGA-H2-A26U-01A-11D-A16O-08 TCGA-H2-A26U-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a84193e-84f1-4729-b467-480c8b73e0e7 539571d0-752a-4bc0-ad14-71dbbe052642 g.chr2:241696841_241696843delTCC ENST00000498729.2 - 27 2997_2999 c.2751_2753delGGA c.(2749-2754)gat>ga p.ED917del KIF1A_ENST00000320389.7_Intron NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 697 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) ctcctcctcatcctcctcctcct 0.675 2 4 --- --- --- --- POU4F2 5458 broad.mit.edu 37 4 147560457 147560458 + In_Frame_Ins INS - - GGC rs67907220 TCGA-H2-A26U-01A-11D-A16O-08 TCGA-H2-A26U-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a84193e-84f1-4729-b467-480c8b73e0e7 539571d0-752a-4bc0-ad14-71dbbe052642 g.chr4:147560457_147560458insGGC ENST00000281321.3 + 1 413_414 c.165_166insGGC c.(163-168)gggcgg>ggGGCgcgg p.55_56GR>GAR AC093887.1_ENST00000584185.1_RNA NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 55 Poly-Gly. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) ACGCTggtggtggcggcggcgg 0.762 8 17 --- --- --- --- MS4A2 2206 broad.mit.edu 37 11 59863096 59863096 + Frame_Shift_Del DEL C C - TCGA-H2-A26U-01A-11D-A16O-08 TCGA-H2-A26U-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a84193e-84f1-4729-b467-480c8b73e0e7 539571d0-752a-4bc0-ad14-71dbbe052642 g.chr11:59863096delC ENST00000278888.3 + 7 804 c.702delC c.(700-702)gafs p.D234fs NM_000139.4 NP_000130.1 Q01362 FCERB_HUMAN membrane-spanning 4-domains, subfamily A, member 2 234 cell proliferation|humoral immune response integral to plasma membrane calcium channel activity endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2) 17 all_epithelial(135;0.245) Omalizumab(DB00043) AGTTGGAAGACCCAGGGGAAA 0.413 10 53 --- --- --- --- ACTN3 89 broad.mit.edu 37 11 66321928 66321928 + RNA DEL A A - rs141435934 TCGA-H2-A26U-01A-11D-A16O-08 TCGA-H2-A26U-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a84193e-84f1-4729-b467-480c8b73e0e7 539571d0-752a-4bc0-ad14-71dbbe052642 g.chr11:66321928delA ENST00000513398.1 + 0 566 ACTN3_ENST00000502692.1_RNA NM_001104.2 NP_001095.1 Q08043 ACTN3_HUMAN actinin, alpha 3 (gene/pseudogene) focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2) 10 accctgtctcaaaaaaaaaaa 0.537 2 4 --- --- --- --- CTD-2014E2.5 0 broad.mit.edu 37 16 31576130 31576131 + RNA DEL TC TC - rs143339797 TCGA-H2-A26U-01A-11D-A16O-08 TCGA-H2-A26U-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a84193e-84f1-4729-b467-480c8b73e0e7 539571d0-752a-4bc0-ad14-71dbbe052642 g.chr16:31576130_31576131delTC ENST00000565692.1 - 0 343 TGAAAGGTGATCTCTCTCTCTC 0.515 7 3 --- --- --- ---