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 TRPM6 140803 broad.mit.edu 37 9 77397394 77397394 + Splice_Site SNP T T A TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr9:77397394T>A ENST00000451710.3 - 23 3332 c.e23-2 TRPM6_ENST00000360774.1_Splice_Site|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Splice_Site|TRPM6_ENST00000449912.2_Splice_Site|TRPM6_ENST00000376864.4_Splice_Site Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 TTGAACAAACTACAAATAAAG 0.383000 15 14 0 0 1 0 0 ELTD1 64123 broad.mit.edu 37 1 79403908 79403908 + Silent SNP C C A TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr1:79403908C>A ENST00000370742.3 - 5 516 c.453G>T c.(451-453)gtG>gtT p.V151V NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 151 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) AAAGATCTGTCACAGAATTTC 0.328000 18 17 5.3912e-06 5.60401e-06 1 1 0 EP300 2033 broad.mit.edu 37 22 41560092 41560092 + Missense_Mutation SNP A A G TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr22:41560092A>G ENST00000263253.7 + 22 4983 c.3764A>G c.(3763-3765)cAt>cGt p.H1255R NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1255 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 AGAAAGATGCATCAGATCTGT 0.388000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 39 74 0 0 1 0 0 SCN2B 6327 broad.mit.edu 37 11 118039397 118039397 + Missense_Mutation SNP C C T rs17121818 TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr11:118039397C>T ENST00000278947.5 - 2 381 c.140G>A c.(139-141)cGc>cAc p.R47H NM_004588.4 NP_004579.1 O60939 SCN2B_HUMAN sodium channel, voltage-gated, type II, beta subunit 47 Ig-like C2-type. R -> H (in dbSNP:rs17121818). synaptic transmission voltage-gated sodium channel complex voltage-gated sodium channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2) 7 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117) GCAGGGCAGGCGGGCGTCAGA 0.567000 100 112 0 0 1 0 0 KRBA2 124751 broad.mit.edu 37 17 8283238 8283238 + Missense_Mutation SNP T T C TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr17:8283238T>C ENST00000582471.1 - 3 235 c.185A>G c.(184-186)tAt>tGt p.Y62C RPL26_ENST00000578812.1_Missense_Mutation_p.Y62C|RPL26_ENST00000293842.5_Missense_Mutation_p.Y62C|RP11-849F2.5_ENST00000585181.1_RNA|RPL26_ENST00000582556.1_Missense_Mutation_p.Y62C|RP11-849F2.5_ENST00000579904.1_RNA|RPL26_ENST00000583011.1_Missense_Mutation_p.Y62C|RPL26_ENST00000584164.1_Missense_Mutation_p.Y62C|RPL26_ENST00000585176.1_5'UTR CTGACCTTTATAGTGTCCACG 0.363000 29 41 0 0 1 0 0 CRK 1398 broad.mit.edu 37 17 1359265 1359265 + Silent SNP G G A TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr17:1359265G>A ENST00000300574.2 - 1 287 c.147C>T c.(145-147)ctC>ctT p.L49L CRK_ENST00000398970.5_Silent_p.L49L|CRK_ENST00000574295.1_Silent_p.L49L|CRK_ENST00000572145.1_Intron NM_016823.3 NP_058431.2 P46108 CRK_HUMAN v-crk avian sarcoma virus CT10 oncogene homolog 49 SH2. actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter cytosol|endosome|nucleus|plasma membrane protein binding|SH2 domain binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2) 9 UCEC - Uterine corpus endometrioid carcinoma (25;0.083) CTGAGACGCTGAGCACATAGT 0.716000 11 41 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49444668 49444668 + Splice_Site SNP C C T TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr12:49444668C>T ENST00000301067.7 - 10 2797 c.e10+1 NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CATCCCCTTACCTGGTGGCAT 0.537000 31 42 0 0 1 0 0 PIGO 84720 broad.mit.edu 37 9 35092731 35092731 + Missense_Mutation SNP T T G TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr9:35092731T>G ENST00000378617.3 - 7 1547 c.1153A>C c.(1153-1155)Act>Cct p.T385P PIGO_ENST00000361778.2_Missense_Mutation_p.T385P|PIGO_ENST00000341666.3_Missense_Mutation_p.T385P|PIGO_ENST00000298004.5_Missense_Mutation_p.T385P NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 385 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) AGGTCCTGAGTAGCAGCTGAG 0.537000 33 44 0 0 1 0 0 HRG 3273 broad.mit.edu 37 3 186386767 186386767 + Missense_Mutation SNP C C T TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr3:186386767C>T ENST00000232003.4 + 2 307 c.227C>T c.(226-228)tCg>tTg p.S76L NM_000412.2 NP_000403.1 P04196 HRG_HUMAN histidine-rich glycoprotein 76 Cystatin 1.|Interaction with ATP5A1. fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) GTGCAAGAATCGGACTGTTCG 0.428000 32 40 0 0 1 0 0 KDM6A 7403 broad.mit.edu 37 X 44870204 44870204 + Splice_Site SNP A A T TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chrX:44870204A>T ENST00000377967.4 + 5 425 c.e5-1 KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0(10)|p.0?(6)|p.?(1) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 CTTCCTTTACAGAATGCTGCC 0.299000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 12 1 0 0 1 0 0 IGKV1D-17 28900 broad.mit.edu 37 2 90121950 90121950 + RNA SNP C C T TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr2:90121950C>T ENST00000483379.1 + 0 349 ATTATTTAGCCTGGTTTCAGC 0.517000 132 253 0 0 1 0 0 DNMT3B 1789 broad.mit.edu 37 20 31375123 31375123 + Missense_Mutation SNP A A G TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr20:31375123A>G ENST00000328111.2 + 6 841 c.520A>G c.(520-522)Aca>Gca p.T174A DNMT3B_ENST00000456297.2_Missense_Mutation_p.T98A|DNMT3B_ENST00000344505.4_Missense_Mutation_p.T174A|DNMT3B_ENST00000348286.2_Missense_Mutation_p.T174A|DNMT3B_ENST00000375623.4_Missense_Mutation_p.T132A|DNMT3B_ENST00000443239.3_Missense_Mutation_p.T132A|DNMT3B_ENST00000353855.2_Missense_Mutation_p.T174A|DNMT3B_ENST00000201963.3_Missense_Mutation_p.T186A NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 174 Interaction with DNMT1 and DNMT3A. negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CACAGACGACACAGAGGACAC 0.657000 47 88 0 0 1 0 0 NRP2 8828 broad.mit.edu 37 2 206608146 206608146 + Missense_Mutation SNP A A T TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr2:206608146A>T ENST00000360409.3 + 9 2302 c.1511A>T c.(1510-1512)cAg>cTg p.Q504L NRP2_ENST00000412873.2_Missense_Mutation_p.Q504L|NRP2_ENST00000540841.1_Missense_Mutation_p.Q504L|NRP2_ENST00000272849.3_Missense_Mutation_p.Q504L|NRP2_ENST00000357118.4_Missense_Mutation_p.Q504L|NRP2_ENST00000540178.1_Missense_Mutation_p.Q504L|NRP2_ENST00000357785.5_Missense_Mutation_p.Q504L|NRP2_ENST00000355117.4_Missense_Mutation_p.Q504L|NRP2_ENST00000417189.1_Missense_Mutation_p.Q504L NM_003872.2|NM_201266.1|NM_201279.1 NP_003863.2|NP_957718|NP_958436.1 O60462 NRP2_HUMAN neuropilin 2 504 F5/8 type C 2. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 GTCATCATCCAGGGAGCCCGC 0.572000 38 54 0 0 1 0 0 ZBTB7A 51341 broad.mit.edu 37 19 4054957 4054957 + Missense_Mutation SNP C C T TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr19:4054957C>T ENST00000322357.4 - 2 552 c.274G>A c.(274-276)Gcc>Acc p.A92T ZBTB7A_ENST00000601588.1_Missense_Mutation_p.A92T NM_015898.2 NP_056982.1 O95365 ZBT7A_HUMAN zinc finger and BTB domain containing 7A 92 BTB. cell differentiation|multicellular organismal development|transcription, DNA-dependent nucleus DNA binding|histone acetyltransferase binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 14 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18) GCCGTGTAGGCGAAGTCCATG 0.662000 7 28 0 0 1 0 0 SLC35D3 340146 broad.mit.edu 37 6 137245051 137245051 + Silent SNP C C A TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr6:137245051C>A ENST00000331858.4 + 2 633 c.468C>A c.(466-468)atC>atA p.I156I NM_001008783.1 NP_001008783.1 Q5M8T2 S35D3_HUMAN solute carrier family 35, member D3 156 carbohydrate transport integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365) GCGACCCCATCGGGTACGTCA 0.701000 5 1 0.00198382 0.00200925 1 1 0 FCAR 2204 broad.mit.edu 37 19 55386785 55386785 + Splice_Site SNP G G C TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr19:55386785G>C ENST00000355524.3 + 2 44 c.e2-1 FCAR_ENST00000391725.3_Splice_Site|FCAR_ENST00000391723.3_Intron|FCAR_ENST00000391726.3_Intron|FCAR_ENST00000469767.1_Splice_Site|FCAR_ENST00000482092.2_Splice_Site|FCAR_ENST00000345937.4_Splice_Site|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000391724.3_Intron|FCAR_ENST00000359272.4_Intron NM_002000.2 NP_001991.1 P24071 FCAR_HUMAN Fc fragment of IgA, receptor for immune response extracellular region|integral to plasma membrane IgA binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) CTCTCTTCCAGTGCTCTGTCT 0.458000 56 62 0 0 1 0 0 MTHFD1 4522 broad.mit.edu 37 14 64894142 64894142 + Silent SNP C C T TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr14:64894142C>T ENST00000545908.1 + 12 1612 c.1383C>T c.(1381-1383)gtC>gtT p.V461V CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000216605.8_Silent_p.V405V P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase 405 Formyltetrahydrofolate synthetase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) ACCAGAATGTCTTTGCGTGTG 0.522000 4 102 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40758799 40758799 + Missense_Mutation SNP G G A TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr12:40758799G>A ENST00000298910.7 + 49 7395 c.7337G>A c.(7336-7338)cGt>cAt p.R2446H NM_198578.3 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 2446 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding p.R2446H(2)|p.R2453H(2) NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) CGACTTATACGTGTAATTTAC 0.388000 27 43 0 0 1 0 0 FGFR3 2261 broad.mit.edu 37 4 1803568 1803568 + Missense_Mutation SNP C C G rs121913483 TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr4:1803568C>G ENST00000340107.4 + 7 1002 c.746C>G c.(745-747)tCc>tGc p.S249C FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 249 S -> C (in KERSEB, bladder cancer, cervical cancer and TD1). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.S249C(1204)|p.R248_S249del(1) NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) ACAGAGCGCTCCCCGCACCGG 0.736000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 13 9 0 0 1 0 0 NFATC3 4775 broad.mit.edu 37 16 68156372 68156372 + Missense_Mutation SNP T T A TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr16:68156372T>A ENST00000349223.5 + 2 810 c.586T>A c.(586-588)Ttg>Atg p.L196M NFATC3_ENST00000329524.4_Missense_Mutation_p.L196M|NFATC3_ENST00000575270.1_Missense_Mutation_p.L196M|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Missense_Mutation_p.L196M NM_173163.2 NP_775186.1 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 196 inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 44 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) GGACTCAGAGTTGAATGAAGC 0.493000 22 71 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 8971700 8971700 + Nonsense_Mutation SNP G G A TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr19:8971700G>A ENST00000397910.4 - 78 43095 c.42892C>T c.(42892-42894)Cag>Tag p.Q14298* MUC16_ENST00000380951.5_Nonsense_Mutation_p.Q939* NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 14381 SEA 15. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCCACCAACTGGTAGGTGGAG 0.527000 9 45 0 0 1 0 0 FURIN 5045 broad.mit.edu 37 15 91424938 91424938 + Missense_Mutation SNP C C T TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr15:91424938C>T ENST00000268171.3 + 16 2494 c.2215C>T c.(2215-2217)Cgc>Tgc p.R739C NM_002569.2 NP_002560.1 P09958 FURIN_HUMAN furin (paired basic amino acid cleaving enzyme) 739 cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 36 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) CCTGCAGCTGCGCTCTGGCTT 0.642000 6 151 0 0 1 0 0 RP11-166N6.3 0 broad.mit.edu 37 3 150659508 150659508 + Missense_Mutation SNP G G A TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr3:150659508G>A ENST00000569170.1 - 1 22 c.23C>T c.(22-24)aCg>aTg p.T8M CLRN1-AS1_ENST00000476886.1_RNA|RP11-166N6.2_ENST00000469268.1_RNA|CLRN1_ENST00000327047.1_Silent_p.H98H|CLRN1_ENST00000328863.4_Silent_p.H98H|CLRN1_ENST00000295911.2_Silent_p.H22H TGACATTGACGTGGATGCTCA 0.403000 27 27 0 0 1 0 0 SGMS2 166929 broad.mit.edu 37 4 108831612 108831612 + Missense_Mutation SNP C C T TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr4:108831612C>T ENST00000394684.4 + 7 1558 c.1001C>T c.(1000-1002)tCc>tTc p.S334F RP11-286E11.1_ENST00000499098.1_RNA|SGMS2_ENST00000359079.4_Missense_Mutation_p.S334F|SGMS2_ENST00000394686.3_Missense_Mutation_p.S334F|RP11-286E11.1_ENST00000513071.1_RNA NM_001136258.1 NP_001129730.1 Q8NHU3 SMS2_HUMAN sphingomyelin synthase 2 334 sphingomyelin biosynthetic process integral to Golgi membrane|integral to plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1) 20 OV - Ovarian serous cystadenocarcinoma(123;2.95e-05) Choline(DB00122) TGCTGCTTCTCCTGGCCGCTG 0.433000 21 24 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14542654 14542654 + Silent SNP C C A TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr18:14542654C>A ENST00000358970.5 - 1 491 c.492G>T c.(490-492)acG>acT p.T164T POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 164 p.T164T(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TGTTCATGTCCGTGTCCCTGA 0.592000 4 197 0.150653 0.150653 1 1 0 PCDHB18P 54660 broad.mit.edu 37 5 140616297 140616297 + RNA SNP G G A TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr5:140616297G>A ENST00000526308.1 + 0 2360 NR_001281.1 endometrium(9)|lung(7)|ovary(1)|urinary_tract(1) 18 TCGATGGGTCGCTGCTCGGTG 0.652000 5 270 0 0 1 0 0 CCDC141 285025 broad.mit.edu 37 2 179734027 179734027 + Missense_Mutation SNP C C G TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr2:179734027C>G ENST00000420890.2 - 15 2328 c.2211G>C c.(2209-2211)ttG>ttC p.L737F CCDC141_ENST00000295723.5_Missense_Mutation_p.L162F NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 162 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CCTCATCATTCAATTGCTAAA 0.323000 14 16 0 0 1 0 0 ADCK1 57143 broad.mit.edu 37 14 78365543 78365543 + Missense_Mutation SNP A A G TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr14:78365543A>G ENST00000238561.5 + 6 782 c.683A>G c.(682-684)aAt>aGt p.N228S ADCK1_ENST00000341211.5_Missense_Mutation_p.N160S NM_020421.3 NP_065154.2 Q86TW2 ADCK1_HUMAN aarF domain containing kinase 1 235 Protein kinase. extracellular region ATP binding|protein serine/threonine kinase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2) 25 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0376) GATTTCCTCAATGAAGGGAGG 0.507000 61 63 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42046994 42046994 + Missense_Mutation SNP A A G TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr1:42046994A>G ENST00000372584.1 - 3 4489 c.3475T>C c.(3475-3477)Tct>Cct p.S1159P HIVEP3_ENST00000429157.2_Missense_Mutation_p.S1159P|HIVEP3_ENST00000372583.1_Missense_Mutation_p.S1159P|HIVEP3_ENST00000247584.5_Missense_Mutation_p.S1159P NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1159 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) AATTCTGGAGACTGTCCTGGC 0.592000 63 84 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86253861 86253861 + Missense_Mutation SNP A A T TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr15:86253861A>T ENST00000394518.2 + 19 5679 c.5584A>T c.(5584-5586)Att>Ttt p.I1862F AKAP13_ENST00000394510.2_Missense_Mutation_p.I107F|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.I1866F NM_001270546.1|NM_007200.4 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 1862 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 GCCCACGGTCATTATGAGAAA 0.428000 27 18 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152792774 152792774 + Silent SNP G G A TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr6:152792774G>A ENST00000367255.5 - 16 2191 c.1590C>T c.(1588-1590)taC>taT p.Y530Y SYNE1_ENST00000367253.4_Silent_p.Y530Y|SYNE1_ENST00000448038.1_Silent_p.Y537Y|SYNE1_ENST00000495090.2_Silent_p.Y97Y|SYNE1_ENST00000367248.3_Silent_p.Y520Y|SYNE1_ENST00000341594.5_Silent_p.Y537Y|SYNE1_ENST00000466159.2_Silent_p.Y530Y|SYNE1_ENST00000265368.4_Silent_p.Y530Y|SYNE1_ENST00000423061.1_Silent_p.Y537Y|SYNE1_ENST00000413186.2_Silent_p.Y530Y NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 530 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTCTCCTCCCGTACTTAATGA 0.443000 HNSCC(10;0.0054) 63 66 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207175836 207175836 + Missense_Mutation SNP A A G TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr2:207175836A>G ENST00000374423.3 + 5 6970 c.6584A>G c.(6583-6585)tAt>tGt p.Y2195C NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 2195 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 AAAAAGGTTTATAAACCAATT 0.333000 16 46 0 0 1 0 0 TUBGCP5 114791 broad.mit.edu 37 15 22845769 22845769 + Silent SNP A A G TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr15:22845769A>G ENST00000283645.4 + 7 760 c.630A>G c.(628-630)ccA>ccG p.P210P TUBGCP5_ENST00000453949.2_Silent_p.P210P NM_052903.4 NP_443135.3 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 210 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 46 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) CAGATGAGCCAGATGACCGAA 0.433000 16 17 0 0 1 0 0 PPP5C 5536 broad.mit.edu 37 19 46857125 46857125 + Missense_Mutation SNP C C T TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr19:46857125C>T ENST00000012443.4 + 2 345 c.242C>T c.(241-243)gCg>gTg p.A81V PPP5C_ENST00000391919.1_5'UTR NM_006247.3 NP_006238.1 P53041 PPP5_HUMAN protein phosphatase 5, catalytic subunit 81 mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent Golgi apparatus|nucleus metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1) 18 Ovarian(192;0.0731)|all_neural(266;0.196) OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504) TATGGCTACGCGCTGGGAGAC 0.597000 14 10 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42237177 42237177 + Missense_Mutation SNP G G A TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr6:42237177G>A ENST00000541110.1 - 5 720 c.152C>T c.(151-153)tCg>tTg p.S51L TRERF1_ENST00000354325.2_Missense_Mutation_p.S51L|TRERF1_ENST00000372917.4_Missense_Mutation_p.S51L|TRERF1_ENST00000340840.2_Missense_Mutation_p.S51L|TRERF1_ENST00000372922.4_Missense_Mutation_p.S51L Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 51 cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GGAGATTGGCGAGGCCTGAGG 0.577000 22 66 0 0 1 0 0 HIST1H4G 8369 broad.mit.edu 37 6 26247113 26247113 + Silent SNP G G A TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr6:26247113G>A ENST00000244537.4 - 1 146 c.93C>T c.(91-93)acC>acT p.T31T NM_003547.2 NP_003538.1 Q99525 H4G_HUMAN histone cluster 1, H4g 31 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167) TAGTGCACTTGGTAATGCCCT 0.557000 39 28 0 0 1 0 0 PIAS4 51588 broad.mit.edu 37 19 4013124 4013124 + Silent SNP G G A TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr19:4013124G>A ENST00000262971.2 + 2 346 c.231G>A c.(229-231)ccG>ccA p.P77P NM_015897.2 NP_056981.2 Q8N2W9 PIAS4_HUMAN protein inhibitor of activated STAT, 4 77 positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|PML body DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding p.P77P(1) central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3) 17 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) CCCCACAGCCGCACCGGCCCC 0.637000 38 58 0 0 1 0 0 SYNE4 163183 broad.mit.edu 37 19 36494329 36494329 + Silent SNP G G A TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr19:36494329G>A ENST00000324444.3 - 8 1236 c.1125C>T c.(1123-1125)ccC>ccT p.P375P SYNE4_ENST00000340477.5_Silent_p.P262P NM_001039876.1 NP_001034965.1 spectrin repeat containing, nuclear envelope family member 4 CTCCTGACGCGGGCAGGAGAA 0.587000 10 18 0 0 1 0 0 DNMT3A 1788 broad.mit.edu 37 2 25459821 25459821 + Missense_Mutation SNP T T C TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr2:25459821T>C ENST00000264709.3 - 21 2799 c.2462A>G c.(2461-2463)cAt>cGt p.H821R DNMT3A_ENST00000402667.1_Missense_Mutation_p.H598R|DNMT3A_ENST00000474887.1_Intron|DNMT3A_ENST00000380746.4_Missense_Mutation_p.H632R|DNMT3A_ENST00000321117.5_Missense_Mutation_p.H821R NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 821 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding p.R803fs*5(3) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TATCCTGCCATGCTCCAGACA 0.577000 """Mis, F, N, S""" AML 10 14 0 0 1 0 0 RPH3A 22895 broad.mit.edu 37 12 113303255 113303255 + Silent SNP C C T rs112146970 TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr12:113303255C>T ENST00000389385.4 + 6 764 c.267C>T c.(265-267)aaC>aaT p.N89N RPH3A_ENST00000543106.2_Silent_p.N89N|RPH3A_ENST00000551052.1_Silent_p.N85N|RPH3A_ENST00000415485.3_Silent_p.N89N|RPH3A_ENST00000548866.1_Silent_p.N40N|RPH3A_ENST00000447659.2_Silent_p.N40N|RPH3A_ENST00000420983.2_Silent_p.N89N NM_001143854.1|NM_014954.3 NP_001137326.1|NP_055769.2 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog (mouse) 89 RabBD. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) TGAGGAAGAACGTGGCTGGAG 0.537000 69 87 0 0 1 0 0 GLUL 2752 broad.mit.edu 37 1 182355519 182355519 + Missense_Mutation SNP G G A rs144782603 TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr1:182355519G>A ENST00000311223.5 - 5 1243 c.347C>T c.(346-348)aCc>aTc p.T116I GLUL_ENST00000331872.6_Missense_Mutation_p.T116I|GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000417584.2_Missense_Mutation_p.T116I|GLUL_ENST00000339526.4_Missense_Mutation_p.T116I NM_002065.5 NP_002056.2 P15104 GLNA_HUMAN glutamate-ammonia ligase 116 cell proliferation|glutamine biosynthetic process|neurotransmitter uptake cytosol|Golgi apparatus|mitochondrion ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1) 16 Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134) CCGTTTACAGGTGTGCCTCAA 0.483000 26 153 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95480633 95480633 + RNA SNP G G A TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr2:95480633G>A ENST00000432432.2 - 0 2727 NR_040113.1 ccagccccttgcaaacattaa 0.388000 3 3 0 0 1 0 0 ALCAM 214 broad.mit.edu 37 3 105264031 105264031 + Splice_Site SNP A A T TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr3:105264031A>T ENST00000481337.1 + 10 1120 c.e10-1 ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000486979.2_Intron|ALCAM_ENST00000472644.2_Intron|ALCAM_ENST00000306107.5_Intron Q13740 CD166_HUMAN activated leukocyte cell adhesion molecule cell adhesion|signal transduction integral to membrane receptor binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 CTTACATTTCAGAGTTAGCAC 0.343000 31 27 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29625885 29625885 + Missense_Mutation SNP A A T TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr20:29625885A>T ENST00000278882.3 + 5 509 c.129A>T c.(127-129)aaA>aaT p.K43N FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N p.K43N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCGCCCTGAAATCTGGCTATG 0.353000 4 112 0 0 1 0 0 MCTP1 79772 broad.mit.edu 37 5 94288993 94288993 + Missense_Mutation SNP T T A TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr5:94288993T>A ENST00000515393.1 - 3 910 c.911A>T c.(910-912)aAc>aTc p.N304I MCTP1_ENST00000505208.1_Missense_Mutation_p.N83I|MCTP1_ENST00000312216.8_Missense_Mutation_p.N83I|MCTP1_ENST00000429576.2_Missense_Mutation_p.N83I NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 304 C2 1. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) AGGGTTGAGGTTCTTGTGTAT 0.353000 11 11 0 0 1 0 0 TRDMT1 1787 broad.mit.edu 37 10 17191111 17191111 + Silent SNP C C T TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr10:17191111C>T ENST00000377799.3 - 11 1151 c.1104G>A c.(1102-1104)caG>caA p.Q368Q TRDMT1_ENST00000457442.2_Silent_p.Q287Q|TRDMT1_ENST00000351358.4_Silent_p.Q322Q|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000412821.3_Silent_p.Q344Q|TRDMT1_ENST00000377766.5_3'UTR NM_004412.5 NP_004403.1 O14717 TRDMT_HUMAN tRNA aspartic acid methyltransferase 1 368 tRNA processing nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1) 18 GGCGATAACGCTGTTTCACTG 0.313000 12 15 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129906464 129906464 + Missense_Mutation SNP G G T TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr10:129906464G>T ENST00000368654.3 - 13 4015 c.3640C>A c.(3640-3642)Cct>Act p.P1214T MKI67_ENST00000368653.3_Missense_Mutation_p.P854T NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1214 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TTTTCCTTAGGAGTCTGTAGC 0.493000 67 114 7.73544e-29 8.85652e-29 1 1 0 RBP3 5949 broad.mit.edu 37 10 48390292 48390292 + Missense_Mutation SNP C C T TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr10:48390292C>T ENST00000224600.4 - 1 699 c.586G>A c.(586-588)Gtg>Atg p.V196M NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 196 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) ATAGTGTCCACGTGCAGGATG 0.597000 22 26 0 0 1 0 0 RBM15 64783 broad.mit.edu 37 1 110884591 110884591 + Missense_Mutation SNP A A G TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr1:110884591A>G ENST00000369784.3 + 1 3464 c.2564A>G c.(2563-2565)aAt>aGt p.N855S RBM15_ENST00000602849.1_Missense_Mutation_p.N855S|RBM15_ENST00000487146.2_Missense_Mutation_p.N855S NM_022768.4 NP_073605.4 Q96T37 RBM15_HUMAN RNA binding motif protein 15 855 SPOC. interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) GCAGGGCCCAATGGTTATGCC 0.537000 T MKL1 acute megakaryocytic leukemia 65 68 0 0 1 0 0 VRK1 7443 broad.mit.edu 37 14 97299866 97299866 + Missense_Mutation SNP G G T TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr14:97299866G>T ENST00000216639.3 + 2 207 c.58G>T c.(58-60)Gca>Tca p.A20S NM_003384.2 NP_003375.1 Q99986 VRK1_HUMAN vaccinia related kinase 1 20 cytoplasm|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1) 12 Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.234) GAGACATCTTGCAGAACAATT 0.393000 46 43 2.37825e-27 2.68402e-27 1 1 0 MYH2 4620 broad.mit.edu 37 17 10427872 10427872 + Missense_Mutation SNP C C A TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr17:10427872C>A ENST00000245503.5 - 35 5470 c.5086G>T c.(5086-5088)Gcc>Tcc p.A1696S RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.A1696S|MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1696 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TCCAGAGTGGCCCGCAGCTCC 0.597000 40 53 1.07121e-22 1.17535e-22 1 1 0 ABCC4 10257 broad.mit.edu 37 13 95696558 95696558 + Missense_Mutation SNP T T C TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr13:95696558T>C ENST00000376887.4 - 28 3705 c.3591A>G c.(3589-3591)atA>atG p.I1197M ABCC4_ENST00000412704.1_Missense_Mutation_p.I1150M NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 1197 ABC transporter 2. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) CAATAATCAATATCTGATTTT 0.398000 14 15 0 0 1 0 0 PIGV 55650 broad.mit.edu 37 1 27121660 27121660 + Missense_Mutation SNP G G T TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr1:27121660G>T ENST00000374145.1 + 3 1817 c.1135G>T c.(1135-1137)Gtg>Ttg p.V379L PIGV_ENST00000078527.4_Missense_Mutation_p.V379L|PIGV_ENST00000449950.2_Missense_Mutation_p.V151L NM_001202554.1 NP_001189483.1 Q9NUD9 PIGV_HUMAN phosphatidylinositol glycan anchor biosynthesis, class V 379 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane glycolipid mannosyltransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 14 all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227) CAGTCCTCAGGTGTTTGTGTA 0.527000 48 89 1.1241e-08 1.18405e-08 1 1 0 HMGCR 3156 broad.mit.edu 37 5 74654524 74654524 + Nonsense_Mutation SNP G G T TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr5:74654524G>T ENST00000287936.4 + 16 2185 c.2029G>T c.(2029-2031)Gaa>Taa p.E677* HMGCR_ENST00000343975.5_Nonsense_Mutation_p.E624*|HMGCR_ENST00000511206.1_Nonsense_Mutation_p.E677* NM_000859.2 NP_000850.1 P04035 HMDH_HUMAN 3-hydroxy-3-methylglutaryl-CoA reductase 677 Catalytic. cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 20 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;2.24e-54) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641) GTATTTCCCTGAAATGCAGAT 0.378000 59 67 3.30226e-22 3.57368e-22 1 1 0 DSPP 1834 broad.mit.edu 37 4 88533533 88533533 + Missense_Mutation SNP T T A TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr4:88533533T>A ENST00000399271.1 + 4 315 c.195T>A c.(193-195)gaT>gaA p.D65E DSPP_ENST00000282478.7_Missense_Mutation_p.D65E|RP11-742B18.1_ENST00000506480.1_RNA NM_014208.3 NP_055023.2 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein 65 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) ATGAAGGTGATAGAGGAAGGC 0.408000 14 25 0 0 1 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891514 18891514 + Silent SNP C C A TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr12:18891514C>A ENST00000317658.3 + 1 470 c.312C>A c.(310-312)atC>atA p.I104I NM_033328.2 NP_201585.1 Q96KX2 CAZA3_HUMAN capping protein (actin filament) muscle Z-line, alpha 3 104 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) TGAAAGACATCCAAAGTCATG 0.388000 20 50 8.00594e-06 8.21389e-06 1 1 0 KLRG1 10219 broad.mit.edu 37 12 9147760 9147760 + Missense_Mutation SNP G G A TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr12:9147760G>A ENST00000266551.4 + 3 248 c.233G>A c.(232-234)cGc>cAc p.R78H KLRG1_ENST00000356986.3_Missense_Mutation_p.R78H|RP11-259O18.4_ENST00000545706.1_RNA|KLRG1_ENST00000538029.1_Intron NM_005810.3 NP_005801.3 Q96E93 KLRG1_HUMAN killer cell lectin-like receptor subfamily G, member 1 78 cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response integral to membrane receptor activity|sugar binding breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1) 8 TGCCCAGACCGCTGGATGAAA 0.473000 10 54 0 0 1 0 0 ABCC5 10057 broad.mit.edu 37 3 183689384 183689384 + Missense_Mutation SNP C C A TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr3:183689384C>A ENST00000334444.6 - 11 1968 c.1728G>T c.(1726-1728)agG>agT p.R576S ABCC5_ENST00000265586.6_Missense_Mutation_p.R576S NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 576 ABC transporter 1. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TGTGCAGTGTCCTCTGTAAGC 0.622000 25 31 9.57634e-11 1.02234e-10 1 1 0 ZBTB12 221527 broad.mit.edu 37 6 31869059 31869059 + Silent SNP C C T TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr6:31869059C>T ENST00000375527.2 - 2 199 c.24G>A c.(22-24)ctG>ctA p.L8L C2_ENST00000452323.2_Intron|C2_ENST00000469372.1_Intron NM_181842.2 NP_862825.1 Q9Y330 ZBT12_HUMAN zinc finger and BTB domain containing 12 8 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1) 10 GCTGGAAGCGCAGGACTTCCA 0.647000 25 17 0 0 1 0 0 PDZRN3 23024 broad.mit.edu 37 3 73437193 73437193 + Missense_Mutation SNP C C T TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr3:73437193C>T ENST00000263666.4 - 8 1558 c.1444G>A c.(1444-1446)Gaa>Aaa p.E482K PDZRN3_ENST00000462146.2_Missense_Mutation_p.E139K|PDZRN3_ENST00000466780.1_Missense_Mutation_p.E139K|PDZRN3_ENST00000535920.1_Missense_Mutation_p.E204K|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000479530.1_Missense_Mutation_p.E199K NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 482 PDZ 2. ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) ACAGCCTCTTCACGGTTCTGC 0.418000 78 88 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95480630 95480630 + RNA SNP C C T TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr2:95480630C>T ENST00000432432.2 - 0 2730 NR_040113.1 gccccagccccttgcaaacat 0.393000 3 3 0 0 1 0 0 CASS4 57091 broad.mit.edu 37 20 55012585 55012585 + Silent SNP C C T rs143359198 by1000genomes TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr20:55012585C>T ENST00000371336.3 + 2 603 c.402C>T c.(400-402)ccC>ccT p.P134P CASS4_ENST00000360314.3_Silent_p.P134P|CASS4_ENST00000434344.1_Silent_p.P134P NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 134 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 ATGAATTCCCCGACCCTCCCA 0.572000 67 79 0 0 1 0 0 DAAM1 23002 broad.mit.edu 37 14 59798592 59798592 + Missense_Mutation SNP A A G TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr14:59798592A>G ENST00000395125.1 + 14 1945 c.1922A>G c.(1921-1923)gAt>gGt p.D641G DAAM1_ENST00000360909.3_Missense_Mutation_p.D641G|DAAM1_ENST00000351081.1_Missense_Mutation_p.D641G NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 641 FH2. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) AAAATTCTAGATCTTGAAGAC 0.373000 82 86 0 0 1 0 0 FOXA1 3169 broad.mit.edu 37 14 38061317 38061317 + Missense_Mutation SNP G G T TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr14:38061317G>T ENST00000250448.2 - 2 733 c.672C>A c.(670-672)ttC>ttA p.F224L FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.F191L NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 224 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) AGCAGTCATTGAAGGACAGCG 0.607000 16 42 6.02846e-25 6.70772e-25 1 1 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95480631 95480631 + RNA SNP T T C TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr2:95480631T>C ENST00000432432.2 - 0 2729 NR_040113.1 ccccagccccttgcaaacatt 0.393000 3 3 0 0 1 0 0 TDRD6 221400 broad.mit.edu 37 6 46661281 46661281 + Missense_Mutation SNP G G C TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr6:46661281G>C ENST00000544460.1 + 1 5670 c.5416G>C c.(5416-5418)Gag>Cag p.E1806Q TDRD6_ENST00000316081.6_Missense_Mutation_p.E1806Q NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1806 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding p.E1806Q(1) NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) TGACAAAGCAGAGTTTGATGA 0.378000 26 80 0 0 1 0 0 JAKMIP3 282973 broad.mit.edu 37 10 133930627 133930627 + Missense_Mutation SNP G G A TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr10:133930627G>A ENST00000298622.4 + 2 320 c.182G>A c.(181-183)cGc>cAc p.R61H NM_001105521.2 NP_001098991.1 Janus kinase and microtubule interacting protein 3 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 31 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) CGGCAGGTGCGCGAGCATGAG 0.577000 27 30 0 0 1 0 0 DRD5 1816 broad.mit.edu 37 4 9784063 9784063 + Missense_Mutation SNP A A G TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr4:9784063A>G ENST00000304374.2 + 1 806 c.410A>G c.(409-411)gAc>gGc p.D137G NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 137 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane p.D137G(1) NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) ATCAGCGTGGACCGCTACTGG 0.612000 3 52 0 0 1 0 0 TRBV7-7 28591 broad.mit.edu 37 7 142120306 142120306 + RNA SNP G G A TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr7:142120306G>A ENST00000390377.1 - 0 15 ACCCAGCATAGGAGACTGGTA 0.498000 13 153 0 0 1 0 0 INTS4P2 644619 broad.mit.edu 37 7 65150816 65150816 + RNA DEL A A - TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr7:65150816delA ENST00000430126.2 + 0 757 TTCATCCCTCACCCCCCCCCC 0.463 2 4 --- --- --- --- snoU13 0 broad.mit.edu 37 13 20449422 20449423 + RNA INS - - A TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr13:20449422_20449423insA ENST00000459056.1 + 0 96_97 gcacattactgaaaaaaaaaat 0.446 2 4 --- --- --- --- KIF19 124602 broad.mit.edu 37 17 72348386 72348386 + Frame_Shift_Del DEL G G - TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chr17:72348386delG ENST00000389916.4 + 14 2025 c.1887delG c.(1885-1887)ctgfs p.L629fs NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 629 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 CGCAGCGCCTGGAAGAGCTCT 0.697 19 30 --- --- --- --- STAG2 10735 broad.mit.edu 37 X 123184133 123184134 + Frame_Shift_Ins INS - - A TCGA-E7-A678-01A-11D-A30E-08 TCGA-E7-A678-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx f3e6f7f4-ae62-4ed3-9c5d-cbf1191515b9 8a3c927a-994c-42c7-9f30-1772fd5e4835 g.chrX:123184133_123184134insA ENST00000371160.1 + 11 1281_1282 c.991_992insA c.(991-993)tatfs p.Y331fs STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Frame_Shift_Ins_p.Y331fs|STAG2_ENST00000371157.3_Frame_Shift_Ins_p.Y331fs|STAG2_ENST00000371144.3_Frame_Shift_Ins_p.Y331fs|STAG2_ENST00000371145.3_Frame_Shift_Ins_p.Y331fs|STAG2_ENST00000354548.5_Frame_Shift_Ins_p.Y262fs NM_001282418.1 NP_001269347.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 331 SCD. cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 TTATTTAAAATATGTTGGTTGG 0.401 84 14 --- --- --- ---