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 THOC2 57187 broad.mit.edu 37 X 122830671 122830671 + Missense_Mutation SNP G G C TCGA-ET-A39T-01A-11D-A19J-08 TCGA-ET-A39T-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbd1f35-6cf8-4768-a951-02b2ceeef3ab a1ac32fc-556d-4096-b3db-fa8a584925f3 g.chrX:122830671G>C uc004etu.3 - 5 399 c.367C>G c.(367-369)Cta>Gta p.L123V THOC2_uc011muh.1_Missense_Mutation_p.L44V|THOC2_uc011mui.1_Missense_Mutation_p.L8V NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN Homo sapiens THO complex 2 (THOC2), mRNA. 123 RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing THO complex part of transcription export complex RNA binding|protein binding breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 CGTTCCTTTAGAACTGTGTCT 0.318000 38 48 0 0 1 0 0 HPX 3263 broad.mit.edu 37 11 6461365 6461365 + Silent SNP A A C TCGA-ET-A39T-01A-11D-A19J-08 TCGA-ET-A39T-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbd1f35-6cf8-4768-a951-02b2ceeef3ab a1ac32fc-556d-4096-b3db-fa8a584925f3 g.chr11:6461365A>C uc010rai.1 - 3 427 c.366T>G c.(364-366)gcT>gcG p.A122A HPX_uc001mdg.2_Intron|HPX_uc009yfc.2_Intron P02790 HEMO_HUMAN Homo sapiens hemopexin (HPX), mRNA. 0 Hemopexin-like 2. cellular iron ion homeostasis|interspecies interaction between organisms extracellular space heme transporter activity|metal ion binding|protein binding endometrium(1)|large_intestine(2)|lung(11)|prostate(1) 15 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19) AGCCCTTTCCAGCCTGGCCCT 0.537000 4 49 0 0 1 0 0 ASMTL 8623 broad.mit.edu 37 X 1540713 1540713 + Silent SNP C C T TCGA-ET-A39T-01A-11D-A19J-08 TCGA-ET-A39T-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbd1f35-6cf8-4768-a951-02b2ceeef3ab a1ac32fc-556d-4096-b3db-fa8a584925f3 g.chrX:1540713C>T uc004cpx.2 - 8 1220 c.1083G>A c.(1081-1083)gcG>gcA p.A361A CRLF2_uc022brt.1_Intron|ASMTL_uc004cpy.2_Silent_p.A345A|ASMTL_uc011mhe.2_Silent_p.A285A|ASMTL_uc011mhf.2_Silent_p.A303A NM_004192 NP_001166944 O95671 ASML_HUMAN Homo sapiens acetylserotonin O-methyltransferase-like (ASMTL), transcript variant 1, mRNA. 361 ASMT-like. melatonin biosynthetic process cytoplasm acetylserotonin O-methyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGTAGACGTTCGCTGTCTCTG 0.488000 17 192 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A39T-01A-11D-A19J-08 TCGA-ET-A39T-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbd1f35-6cf8-4768-a951-02b2ceeef3ab a1ac32fc-556d-4096-b3db-fa8a584925f3 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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 34 35 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 29474117 29474117 + Silent SNP G G A TCGA-ET-A39T-01A-11D-A19J-08 TCGA-ET-A39T-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbd1f35-6cf8-4768-a951-02b2ceeef3ab a1ac32fc-556d-4096-b3db-fa8a584925f3 g.chr2:29474117G>A uc002rmy.3 - 11 3010 c.2058C>T c.(2056-2058)acC>acT p.T686T NM_004304 NP_004295 Q9UM73 ALK_HUMAN Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA. 686 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) CCCCACATGTGGTGAACAGCC 0.652000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 3 22 0 0 1 0 0 MRGPRX4 117196 broad.mit.edu 37 11 18195430 18195430 + Missense_Mutation SNP G G A TCGA-ET-A39T-01A-11D-A19J-08 TCGA-ET-A39T-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbd1f35-6cf8-4768-a951-02b2ceeef3ab a1ac32fc-556d-4096-b3db-fa8a584925f3 g.chr11:18195430G>A uc001mnv.1 + 0 1047 c.627G>A c.(625-627)atG>atA p.M209I NM_054032 NP_473373 Q96LA9 MRGX4_HUMAN Homo sapiens MAS-related GPR, member X4 (MRGPRX4), mRNA. 209 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 CCCGGAAGATGCCGCTGACCA 0.562000 7 67 0 0 1 0 0 ANO9 338440 broad.mit.edu 37 11 428731 428731 + Silent SNP G G A TCGA-ET-A39T-01A-11D-A19J-08 TCGA-ET-A39T-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbd1f35-6cf8-4768-a951-02b2ceeef3ab a1ac32fc-556d-4096-b3db-fa8a584925f3 g.chr11:428731G>A uc001lpi.2 - 11 1096 c.1011C>T c.(1009-1011)acC>acT p.T337T ANO9_uc001lph.2_Silent_p.T30T|ANO9_uc010qvv.1_Silent_p.T193T NM_001012302 NP_001012302 A1A5B4 ANO9_HUMAN Homo sapiens anoctamin 9 (ANO9), mRNA. 337 chloride channel complex chloride channel activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4) 21 CCATGAGCAGGGTCAGGACGA 0.657000 3 34 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55538950 55538950 + Silent SNP G G T TCGA-ET-A39T-01A-11D-A19J-08 TCGA-ET-A39T-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbd1f35-6cf8-4768-a951-02b2ceeef3ab a1ac32fc-556d-4096-b3db-fa8a584925f3 g.chr8:55538950G>T uc003xsd.1 + 3 2656 c.2508G>T c.(2506-2508)ccG>ccT p.P836P RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 836 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TTTATGCACCGCAATCTCAAG 0.328000 20 35 0 0 1 0 0 CD5L 922 broad.mit.edu 37 1 157804272 157804272 + Missense_Mutation SNP G G T TCGA-ET-A39T-01A-11D-A19J-08 TCGA-ET-A39T-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbd1f35-6cf8-4768-a951-02b2ceeef3ab a1ac32fc-556d-4096-b3db-fa8a584925f3 g.chr1:157804272G>T uc001frk.4 - 3 786 c.643C>A c.(643-645)Ctt>Att p.L215I NM_005894 NP_005885 O43866 CD5L_HUMAN Homo sapiens CD5 molecule-like (CD5L), mRNA. 215 SRCR 2. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CAATCCTGAAGGGTTGCTTCT 0.532000 3 42 0 0 1 0 0 RAB27A 5873 broad.mit.edu 37 15 55497812 55497812 + Missense_Mutation SNP G G A rs144946000 byFrequency TCGA-ET-A39T-01A-11D-A19J-08 TCGA-ET-A39T-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbd1f35-6cf8-4768-a951-02b2ceeef3ab a1ac32fc-556d-4096-b3db-fa8a584925f3 g.chr15:55497812G>A uc002acr.3 - 6 801 c.559C>T c.(559-561)Cgg>Tgg p.R187W RAB27A_uc002aco.3_Missense_Mutation_p.R187W|RAB27A_uc002acp.3_Missense_Mutation_p.R187W|RAB27A_uc002acq.3_Missense_Mutation_p.R187W NM_183235 NP_899059 P51159 RB27A_HUMAN Homo sapiens RAB27A, member RAS oncogene family (RAB27A), transcript variant 3, mRNA. 187 small GTPase mediated signal transduction dendrite|exocytic vesicle|late endosome|lysosome|melanosome GTP binding|GTPase activity endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1) 9 all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993) TCCACACACCGTTCCATTCGC 0.473000 12 118 0 0 1 0 0 C15orf55 256646 broad.mit.edu 37 15 34649616 34649616 + Missense_Mutation SNP G G A rs138691157 byFrequency TCGA-ET-A39T-01A-11D-A19J-08 TCGA-ET-A39T-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbd1f35-6cf8-4768-a951-02b2ceeef3ab a1ac32fc-556d-4096-b3db-fa8a584925f3 g.chr15:34649616G>A uc010ucc.2 + 7 3789 c.3407G>A c.(3406-3408)cGa>cAa p.R1136Q C15orf55_uc010ucd.2_Missense_Mutation_p.R1126Q|C15orf55_uc001zif.3_Missense_Mutation_p.R1108Q NM_175741 NP_786883 Q86Y26 NUT_HUMAN Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA. 1108 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) large_intestine(2)|ovary(3)|skin(2) 7 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) GGAGTAGTTCGACCCTCACAG 0.587000 T """BRD3, BRD4""" lethal midline carcinoma 5 93 0 0 1 0 0 SNX21 90203 broad.mit.edu 37 20 44463079 44463079 + Silent SNP C C A TCGA-ET-A39T-01A-11D-A19J-08 TCGA-ET-A39T-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbd1f35-6cf8-4768-a951-02b2ceeef3ab a1ac32fc-556d-4096-b3db-fa8a584925f3 g.chr20:44463079C>A uc002xpv.1 + 1 350 c.261C>A c.(259-261)ctC>ctA p.L87L SNX21_uc002xpt.1_Silent_p.L87L|SNX21_uc002xps.1_Silent_p.L87L|SNX21_uc002xpu.1_Silent_p.L87L|SNX21_uc002xpw.1_5'UTR|SNX21_uc010zxd.1_Silent_p.L78L|SNX21_uc002xpy.1_5'Flank NM_033421 NP_219489 Q969T3 SNX21_HUMAN Homo sapiens sorting nexin family member 21 (SNX21), transcript variant 1, mRNA. 87 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1) 7 Myeloproliferative disorder(115;0.0122) AGCTGCCCCTCGGGGATGGGA 0.692000 3 22 0 0 1 0 0 ZNF702P 79986 broad.mit.edu 37 19 53472683 53472683 + RNA SNP C C T TCGA-ET-A39T-01A-11D-A19J-08 TCGA-ET-A39T-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbd1f35-6cf8-4768-a951-02b2ceeef3ab a1ac32fc-556d-4096-b3db-fa8a584925f3 g.chr19:53472683C>T uc002qan.4 - 3 c.1818G>A Homo sapiens zinc finger protein 702, pseudogene (ZNF702P), non-coding RNA. CTGTCACACTCATCACACTTG 0.423000 17 19 0 0 1 0 0 TBCCD1 55171 broad.mit.edu 37 3 186268971 186268971 + Missense_Mutation SNP G G C TCGA-ET-A39T-01A-11D-A19J-08 TCGA-ET-A39T-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbd1f35-6cf8-4768-a951-02b2ceeef3ab a1ac32fc-556d-4096-b3db-fa8a584925f3 g.chr3:186268971G>C uc003fqg.3 - 6 1771 c.1642C>G c.(1642-1644)Cct>Gct p.P548A TBCCD1_uc011bry.2_Missense_Mutation_p.P548A|TBCCD1_uc003fqh.3_Missense_Mutation_p.P452A NM_018138 NP_060608 Q9NVR7 TBCC1_HUMAN Homo sapiens TBCC domain containing 1 (TBCCD1), transcript variant 2, mRNA. 548 cell morphogenesis|maintenance of Golgi location|maintenance of centrosome location|regulation of cell migration|regulation of cell shape spindle pole centrosome binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1) 17 all_cancers(143;3.75e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.3e-21) GBM - Glioblastoma multiforme(93;0.0474) CCTGCTGCAGGGGGTACAAGG 0.443000 33 44 0 0 1 0 0 SPNS1 83985 broad.mit.edu 37 16 28990543 28990543 + Missense_Mutation SNP C C T TCGA-ET-A39T-01A-11D-A19J-08 TCGA-ET-A39T-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbd1f35-6cf8-4768-a951-02b2ceeef3ab a1ac32fc-556d-4096-b3db-fa8a584925f3 g.chr16:28990543C>T uc010vdi.1 + 4 652 c.512C>T c.(511-513)gCg>gTg p.A171V NPIPL1_uc010vct.2_Intron|SPNS1_uc002dry.2_Missense_Mutation_p.A171V|SPNS1_uc002drx.2_Missense_Mutation_p.A98V|SPNS1_uc002dsa.2_Missense_Mutation_p.A171V|SPNS1_uc002drz.2_Missense_Mutation_p.A171V|SPNS1_uc010byp.2_Missense_Mutation_p.A149V NM_001142448 NP_001135922 Q9H2V7 SPNS1_HUMAN Homo sapiens spinster homolog 1 (Drosophila) (SPNS1), transcript variant 2, mRNA. 171 lipid transport|transmembrane transport integral to membrane|mitochondrial inner membrane protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1) 21 TCCACCATCGCGCCCACTCTC 0.657000 33 63 0 0 1 0 0 CAND1 55832 broad.mit.edu 37 12 67696298 67696298 + Missense_Mutation SNP T T G TCGA-ET-A39T-01A-11D-A19J-08 TCGA-ET-A39T-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbd1f35-6cf8-4768-a951-02b2ceeef3ab a1ac32fc-556d-4096-b3db-fa8a584925f3 g.chr12:67696298T>G uc001stn.2 + 7 1633 c.1196T>G c.(1195-1197)cTt>cGt p.L399R CAND1_uc001sto.2_Missense_Mutation_p.L77R NM_018448 NP_060918 Q86VP6 CAND1_HUMAN Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA. 399 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) CACGCATACCTTTCTCTTTTG 0.428000 6 137 0 0 1 0 0 SNRNP70 6625 broad.mit.edu 37 19 49611420 49611420 + Frame_Shift_Del DEL A A - TCGA-ET-A39T-01A-11D-A19J-08 TCGA-ET-A39T-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cbd1f35-6cf8-4768-a951-02b2ceeef3ab a1ac32fc-556d-4096-b3db-fa8a584925f3 g.chr19:49611420delA uc002pmk.3 + 9 1473 c.1034delA c.(1033-1035)gaafs p.E345fs SNRNP70_uc002pmh.2_Non-coding_Transcript|SNRNP70_uc002pmm.3_Non-coding_Transcript|SNRNP70_uc021uxh.1_Frame_Shift_Del_p.K132fs NM_003089 NP_003080 P08621 RU17_HUMAN Homo sapiens small nuclear ribonucleoprotein 70kDa (U1) (SNRNP70), mRNA. 345 Arg/Asp/Glu-rich (mixed charge). nuclear mRNA splicing, via spliceosome|regulation of RNA splicing nucleoplasm|spliceosomal complex RNA binding|nucleotide binding|protein binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2) 12 GGTCCAGAGGAAAAgggccgg 0.746 2 4 --- --- --- ---