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 CTDP1 9150 broad.mit.edu 37 18 77477556 77477556 + Missense_Mutation SNP C C G TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr18:77477556C>G ENST00000299543.7 + 9 2237 c.2090C>G c.(2089-2091)gCa>gGa p.A697G CTDP1_ENST00000075430.7_Missense_Mutation_p.A697G NM_001202504.1|NM_004715.4 NP_001189433.1|NP_004706.3 Q9Y5B0 CTDP1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 697 BRCT. positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1) 35 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) GTGCTGCAGGCACAGGAGTGC 0.672000 20 53 0 0 0.592651 0 0 YARS 8565 broad.mit.edu 37 1 33252023 33252023 + Silent SNP T T C TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr1:33252023T>C ENST00000373477.4 - 8 1754 c.846A>G c.(844-846)aaA>aaG p.K282K NM_003680.3 NP_003671.1 P54577 SYYC_HUMAN tyrosyl-tRNA synthetase 282 apoptosis|tyrosyl-tRNA aminoacylation cytosol|extracellular space|nucleus|soluble fraction ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) L-Tyrosine(DB00135) TTCCACCCCATTTCTCATCTC 0.428000 14 37 0 0 0.500413 0 0 RFX1 5989 broad.mit.edu 37 19 14088854 14088854 + Missense_Mutation SNP G G C TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr19:14088854G>C ENST00000254325.4 - 8 1113 c.879C>G c.(877-879)agC>agG p.S293R NM_002918.4 NP_002909.4 P22670 RFX1_HUMAN regulatory factor X, 1 (influences HLA class II expression) 293 immune response nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(19;6.67e-23) ACTGCACCTGGCTGGAGTACA 0.652000 26 110 0 0 0.693898 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102296140 102296140 + RNA SNP C C T TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr15:102296140C>T ENST00000561463.1 + 0 4186 GTCCAACCTGCACTCGCGTGG 0.602000 3 7 0 0 0.184627 0 0 BCL7A 605 broad.mit.edu 37 12 122481898 122481898 + Silent SNP C C T rs111620654 byFrequency TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr12:122481898C>T ENST00000538010.1 + 4 3048 c.378C>T c.(376-378)gaC>gaT p.D126D BCL7A_ENST00000261822.4_Silent_p.D126D NM_020993.3 NP_066273.1 Q4VC05 BCL7A_HUMAN B-cell CLL/lymphoma 7A 126 negative regulation of transcription, DNA-dependent haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231) TGCCCAGCGACGGCACCGAGG 0.642000 T MYC BNHL 30 79 0 0 0.717897 0 0 KIAA1715 80856 broad.mit.edu 37 2 176835534 176835534 + Splice_Site SNP T T C TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr2:176835534T>C ENST00000272748.4 - 6 564 c.e6-2 KIAA1715_ENST00000535310.1_Splice_Site|KIAA1715_ENST00000544803.1_Splice_Site NM_030650.1 NP_085153.1 Q9C0E8 LNP_HUMAN KIAA1715 integral to membrane protein binding endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(117;0.0793) ATGCTTCATCTAGAAAGCAAG 0.234000 3 13 0 0 0.115264 0 0 ATP1A1 476 broad.mit.edu 37 1 116937892 116937892 + Silent SNP A A T TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr1:116937892A>T ENST00000537345.1 + 13 2184 c.1821A>T c.(1819-1821)cgA>cgT p.R607R ATP1A1_ENST00000295598.5_Silent_p.R607R|ATP1A1_ENST00000369496.4_Silent_p.R576R NM_001160233.1 NP_001153705.1 P05023 AT1A1_HUMAN ATPase, Na+/K+ transporting, alpha 1 polypeptide 607 ATP biosynthetic process melanosome|sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 Lung SC(450;0.225) all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24) Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021) GCAAATGTCGAAGTGCTGGAA 0.522000 19 60 0 0 0.575678 0 0 DMAP1 55929 broad.mit.edu 37 1 44685108 44685108 + Missense_Mutation SNP C C A TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr1:44685108C>A ENST00000372289.2 + 7 1200 c.937C>A c.(937-939)Cca>Aca p.P313T DMAP1_ENST00000315913.5_Missense_Mutation_p.P313T|DMAP1_ENST00000361745.6_Missense_Mutation_p.P313T|DMAP1_ENST00000488433.1_3'UTR NM_019100.4 NP_061973.1 Q9NPF5 DMAP1_HUMAN DNA methyltransferase 1 associated protein 1 313 DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex DNA binding|protein binding breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Acute lymphoblastic leukemia(166;0.155) CATCAAGTTTCCAGACTTCAA 0.577000 13 19 3.27435e-08 3.5169e-08 0.457914 1 0 NDOR1 27158 broad.mit.edu 37 9 140110192 140110192 + Missense_Mutation SNP G G A TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr9:140110192G>A ENST00000371521.4 + 11 1453 c.1370G>A c.(1369-1371)gGg>gAg p.G457E NDOR1_ENST00000427047.2_Missense_Mutation_p.G423E|NDOR1_ENST00000344894.5_Missense_Mutation_p.G457E|NDOR1_ENST00000458322.2_Missense_Mutation_p.G450E NM_001144026.1 NP_001137498.1 Q9UHB4 NDOR1_HUMAN NADPH dependent diflavin oxidoreductase 1 457 cell death cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) ATCATGGTGGGGCCTGGCACT 0.667000 4 72 0 0 0.150653 0 0 SYNE3 161176 broad.mit.edu 37 14 95910939 95910939 + Silent SNP A A G TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr14:95910939A>G ENST00000334258.5 - 9 1673 c.1659T>C c.(1657-1659)ttT>ttC p.F553F SYNE3_ENST00000553340.1_Silent_p.F553F|SYNE3_ENST00000557275.1_Silent_p.F553F|SYNE3_ENST00000554873.1_Silent_p.F310F NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 AAGCTGCTCCAAAGTCTTTGT 0.582000 11 54 0 0 0.411799 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 6 75 0 0 0.217242 0 0 SNX29 92017 broad.mit.edu 37 16 12145807 12145807 + Missense_Mutation SNP G G T rs140388401 TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr16:12145807G>T ENST00000566228.1 + 8 921 c.852G>T c.(850-852)aaG>aaT p.K284N NM_032167.3 NP_115543.3 Q8TEQ0 SNX29_HUMAN sorting nexin 29 256 PX. cell communication phosphatidylinositol binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 7 TGTTTAAAAAGACACCTGGGG 0.483000 31 137 2.08457e-15 2.3251e-15 0.750413 1 0 KCNJ1 3758 broad.mit.edu 37 11 128709679 128709679 + Missense_Mutation SNP A A C TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr11:128709679A>C ENST00000392665.2 - 2 604 c.460T>G c.(460-462)Ttc>Gtc p.F154V KCNJ1_ENST00000440599.2_Missense_Mutation_p.F154V|KCNJ1_ENST00000324036.3_Missense_Mutation_p.F154V|KCNJ1_ENST00000392664.2_Missense_Mutation_p.F173V|KCNJ1_ENST00000392666.1_Missense_Mutation_p.F154V NM_153764.2 NP_722448.1 P48048 IRK1_HUMAN potassium inwardly-rectifying channel, subfamily J, member 1 173 excretion voltage-gated potassium channel complex ATP binding|inward rectifier potassium channel activity breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1) 23 all_hematologic(175;0.0641) all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942) Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124) CCACACATGAAAGAATTGATT 0.453000 28 70 0 0 0.706142 0 0 ANK3 288 broad.mit.edu 37 10 61832058 61832058 + Missense_Mutation SNP T T G TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr10:61832058T>G ENST00000280772.1 - 37 8772 c.8581A>C c.(8581-8583)Act>Cct p.T2861P ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 2861 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTATTGTTAGTGGCTCCCGAA 0.413000 25 82 0 0 0.667858 0 0 TOM1L1 10040 broad.mit.edu 37 17 53026926 53026926 + Silent SNP A A G TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr17:53026926A>G ENST00000575882.1 + 13 1583 c.1230A>G c.(1228-1230)caA>caG p.Q410Q TOM1L1_ENST00000348161.4_Silent_p.Q333Q|TOM1L1_ENST00000445275.2_Silent_p.Q399Q|TOM1L1_ENST00000572158.1_Silent_p.Q403Q|TOM1L1_ENST00000536554.1_Silent_p.Q333Q|TOM1L1_ENST00000540336.1_Silent_p.Q298Q NM_005486.2 NP_005477.2 O75674 TM1L1_HUMAN target of myb1 (chicken)-like 1 410 intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway cytosol|endosome membrane|Golgi stack|lysosome SH3 domain binding|ubiquitin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 15 TTAGTCTACAAACCATTGCAG 0.388000 12 61 0 0 0.411799 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 6 77 0 0 0.217242 0 0 OR8B3 390271 broad.mit.edu 37 11 124266451 124266451 + Missense_Mutation SNP G G A TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr11:124266451G>A ENST00000354597.3 - 1 813 c.797C>T c.(796-798)tCt>tTt p.S266F NM_001005467.1 NP_001005467.1 Q8NGG8 OR8B3_HUMAN olfactory receptor, family 8, subfamily B, member 3 266 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) CTGCTCCATAGATCCAGAAGA 0.408000 8 102 0 0 0.387290 0 0 SUGP2 10147 broad.mit.edu 37 19 19121013 19121013 + Silent SNP G G A TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr19:19121013G>A ENST00000601879.1 - 5 2286 c.1989C>T c.(1987-1989)taC>taT p.Y663Y SUGP2_ENST00000456085.2_Silent_p.Y432Y|SUGP2_ENST00000600377.1_Silent_p.Y677Y|SUGP2_ENST00000452918.2_Silent_p.Y663Y|SUGP2_ENST00000337018.6_Silent_p.Y663Y Q8IX01 SUGP2_HUMAN SURP and G patch domain containing 2 663 mRNA processing|RNA splicing nucleus RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 CAGCCCGGGAGTACAGCATGG 0.627000 31 193 0 0 0.740014 0 0 PLEKHG3 26030 broad.mit.edu 37 14 65210037 65210037 + Silent SNP G G A TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr14:65210037G>A ENST00000247226.7 + 15 3416 c.3108G>A c.(3106-3108)tcG>tcA p.S1036S PLEKHG3_ENST00000484731.2_Silent_p.S597S|PLEKHG3_ENST00000471182.2_Silent_p.S625S|PLEKHG3_ENST00000394691.1_Silent_p.S1092S|PLEKHG3_ENST00000492928.1_Intron NM_015549.1 NP_056364.1 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 3 1092 R -> W (in dbSNP:rs229649). regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2) 29 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) CACCTCTGTCGGGCAGGGTGG 0.736000 3 28 0 0 0.115264 0 0 SLC16A1 6566 broad.mit.edu 37 1 113460112 113460112 + Missense_Mutation SNP C C T TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr1:113460112C>T ENST00000538576.1 - 4 1747 c.916G>A c.(916-918)Gct>Act p.A306T SLC16A1_ENST00000433570.4_Missense_Mutation_p.A306T|SLC16A1_ENST00000369626.3_Missense_Mutation_p.A306T NM_001166496.1 NP_001159968.1 P53985 MOT1_HUMAN solute carrier family 16 (monocarboxylate transporter), member 1 306 blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process integral to membrane|membrane fraction|plasma membrane mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1) 20 Lung SC(450;0.246) all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232) Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643) Pyruvic acid(DB00119) TCAACAAAAGCCAGAATGGAA 0.433000 3 43 0 0 0.115264 0 0 DDX55 57696 broad.mit.edu 37 12 124094530 124094530 + Missense_Mutation SNP G G A TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr12:124094530G>A ENST00000238146.4 + 7 646 c.596G>A c.(595-597)gGc>gAc p.G199D DDX55_ENST00000538744.1_Missense_Mutation_p.G199D NM_020936.1 NP_065987.1 Q8NHQ9 DDX55_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 199 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772) AGGAGAACAGGCCTTTTCTCT 0.547000 16 61 0 0 0.520397 0 0 FOXD4 2298 broad.mit.edu 37 9 117355 117355 + Silent SNP A A G TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr9:117355A>G ENST00000382500.2 - 1 1062 c.765T>C c.(763-765)ccT>ccC p.P255P NM_207305.4 NP_997188.2 Q12950 FOXD4_HUMAN forkhead box D4 255 Pro-rich. axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|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 endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) GCAGAGCGTAAGGGCGTCTCC 0.736000 20 17 0 0 0.608945 0 0 CCDC129 223075 broad.mit.edu 37 7 31682489 31682489 + Missense_Mutation SNP T T C TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr7:31682489T>C ENST00000319386.3 + 11 2054 c.1061T>C c.(1060-1062)aTg>aCg p.M354T CCDC129_ENST00000407970.3_Missense_Mutation_p.M502T|CCDC129_ENST00000451887.2_Missense_Mutation_p.M528T|CCDC129_ENST00000409210.1_Missense_Mutation_p.M410T Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 502 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 GTATCTGTGATGGAGGAAGAG 0.542000 29 124 0 0 0.740014 0 0 ITSN1 6453 broad.mit.edu 37 21 35122607 35122607 + Missense_Mutation SNP T T C TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr21:35122607T>C ENST00000381318.3 + 6 794 c.506T>C c.(505-507)cTg>cCg p.L169P ITSN1_ENST00000399367.3_Missense_Mutation_p.L169P|ITSN1_ENST00000399353.1_Missense_Mutation_p.L132P|ITSN1_ENST00000379960.5_Missense_Mutation_p.L169P|ITSN1_ENST00000399352.1_Missense_Mutation_p.L169P|ITSN1_ENST00000399355.2_Missense_Mutation_p.L169P|ITSN1_ENST00000399326.3_Missense_Mutation_p.L169P|ITSN1_ENST00000399338.4_Missense_Mutation_p.L169P|ITSN1_ENST00000381291.4_Missense_Mutation_p.L169P|ITSN1_ENST00000399349.1_Missense_Mutation_p.L169P|ITSN1_ENST00000437442.2_Missense_Mutation_p.L169P|ITSN1_ENST00000381285.4_Missense_Mutation_p.L169P|AP000304.12_ENST00000429238.1_Intron NM_003024.2 NP_003015.2 Q15811 ITSN1_HUMAN intersectin 1 (SH3 domain protein) 169 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 ATACAACCTCTGCCTGCATTT 0.453000 28 81 0 0 0.779181 0 0 SDAD1 55153 broad.mit.edu 37 4 76882456 76882456 + Missense_Mutation SNP T T C TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr4:76882456T>C ENST00000356260.5 - 15 1305 c.1187A>G c.(1186-1188)aAt>aGt p.N396S SDAD1_ENST00000513089.1_5'UTR|SDAD1_ENST00000395711.4_Missense_Mutation_p.N359S NM_018115.2 NP_060585.2 Q9NVU7 SDA1_HUMAN SDA1 domain containing 1 396 N -> S (in Ref. 1; CAH18368). protein transport|ribosomal large subunit biogenesis nucleolus protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CTTTATAGCATTGATTCTAGA 0.368000 30 81 0 0 0.750413 0 0 UTRN 7402 broad.mit.edu 37 6 144844257 144844257 + Nonsense_Mutation SNP A A T TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr6:144844257A>T ENST00000367545.3 + 40 5839 c.5839A>T c.(5839-5841)Aga>Tga p.R1947* NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 1947 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) CATTCAGATCAGAGATACACT 0.378000 17 56 0 0 0.557998 0 0 DDR2 4921 broad.mit.edu 37 1 162740113 162740113 + Missense_Mutation SNP G G A TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr1:162740113G>A ENST00000367922.2 + 13 1753 c.1315G>A c.(1315-1317)Gat>Aat p.D439N DDR2_ENST00000367921.3_Missense_Mutation_p.D439N NM_001014796.1 NP_001014796.1 Q16832 DDR2_HUMAN discoidin domain receptor tyrosine kinase 2 439 cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) GATGCTGGATGATGAAATGAC 0.478000 18 147 0 0 0.557998 0 0 PMS2 5395 broad.mit.edu 37 7 6042153 6042153 + Silent SNP T T A TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr7:6042153T>A ENST00000265849.7 - 5 573 c.468A>T c.(466-468)acA>acT p.T156T PMS2_ENST00000382321.4_Silent_p.T156T|PMS2_ENST00000441476.2_Silent_p.T50T|PMS2_ENST00000406569.3_Silent_p.T156T|PMS2_ENST00000469652.1_Intron NM_000535.5 NP_000526.1 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 156 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) GCACGCTGACTGTGGTCCCTC 0.468000 """Mis, N, F""" """colorectal, endometrial, ovarian, medulloblastoma, glioma""" Direct reversal of damage;Mismatch excision repair (MMR) Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 42 96 0 0 0.834066 0 0 MYH8 4626 broad.mit.edu 37 17 10321989 10321989 + Missense_Mutation SNP C C A TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr17:10321989C>A ENST00000403437.2 - 5 578 c.484G>T c.(484-486)Gac>Tac p.D162Y CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 162 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TAGGCATTGTCAGAGATGGAG 0.517000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 57 135 4.66136e-34 5.51753e-34 0.870114 1 0 LRP2 4036 broad.mit.edu 37 2 170062051 170062051 + Silent SNP G G A TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr2:170062051G>A ENST00000263816.3 - 41 7938 c.7653C>T c.(7651-7653)gtC>gtT p.V2551V NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2551 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CACTGGGCATGACCAGACTGC 0.512000 4 82 0 0 0.150653 0 0 SLC1A5 6510 broad.mit.edu 37 19 47278897 47278897 + Missense_Mutation SNP A A T TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr19:47278897A>T ENST00000542575.2 - 8 2124 c.1496T>A c.(1495-1497)aTa>aAa p.I499K SLC1A5_ENST00000434726.2_Missense_Mutation_p.I297K|SLC1A5_ENST00000412532.2_Missense_Mutation_p.I271K|FKRP_ENST00000600646.1_Intron|SLC1A5_ENST00000594991.1_Missense_Mutation_p.I323K NM_005628.2 NP_005619.1 Q15758 AAAT_HUMAN solute carrier family 1 (neutral amino acid transporter), member 5 499 cellular nitrogen compound metabolic process integral to plasma membrane|melanosome|membrane fraction neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1) 13 all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107) OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341) L-Asparagine(DB00174)|L-Glutamine(DB00130) CTTCACTTGTATCAACTCAGG 0.587000 43 172 0 0 0.847076 0 0 SLC41A1 254428 broad.mit.edu 37 1 205767924 205767924 + Silent SNP G G A TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr1:205767924G>A ENST00000367137.3 - 6 1731 c.717C>T c.(715-717)gtC>gtT p.V239V SLC41A1_ENST00000468057.1_5'UTR NM_173854.4 NP_776253.3 Q8IVJ1 S41A1_HUMAN solute carrier family 41 (magnesium transporter), member 1 239 integral to membrane|plasma membrane magnesium ion transmembrane transporter activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 17 Breast(84;0.0799) BRCA - Breast invasive adenocarcinoma(75;0.0252) AGCCAATGATGACTCCAATCA 0.537000 28 73 0 0 0.729181 0 0 KNSTRN 90417 broad.mit.edu 37 15 40682113 40682113 + Missense_Mutation SNP G G T TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr15:40682113G>T ENST00000416151.2 + 6 783 c.668G>T c.(667-669)aGc>aTc p.S223I KNSTRN_ENST00000448395.2_Missense_Mutation_p.S223I|KNSTRN_ENST00000249776.8_Missense_Mutation_p.S223I NM_001142761.1 NP_001136233.1 kinetochore-localized astrin/SPAG5 binding protein ATTTTGGAGAGCAAGGGCCTT 0.532000 11 59 9.05144e-12 9.90535e-12 0.435327 1 0 SLC39A7 7922 broad.mit.edu 37 6 33170811 33170811 + Silent SNP C C T TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr6:33170811C>T ENST00000374677.3 + 6 1438 c.1065C>T c.(1063-1065)gtC>gtT p.V355V SLC39A7_ENST00000374675.3_Silent_p.V355V|SLC39A7_ENST00000463972.1_3'UTR NM_006979.2 NP_008910.2 Q92504 S39A7_HUMAN solute carrier family 39 (zinc transporter), member 7 355 endoplasmic reticulum membrane|integral to membrane|membrane fraction protein binding|zinc ion transmembrane transporter activity NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 CAATGACTGTCCTGCTACATG 0.562000 64 207 0 0 0.870114 0 0 IGSF10 285313 broad.mit.edu 37 3 151166433 151166433 + Missense_Mutation SNP T T A TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr3:151166433T>A ENST00000282466.3 - 4 1335 c.1336A>T c.(1336-1338)Agt>Tgt p.S446C NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 446 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TGTAATGTACTGAATGTGGTG 0.423000 28 70 0 0 0.717897 0 0 CCT8L2 150160 broad.mit.edu 37 22 17071901 17071901 + Missense_Mutation SNP G G T TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr22:17071901G>T ENST00000359963.3 - 1 1799 c.1540C>A c.(1540-1542)Ctc>Atc p.L514I NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 514 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) ACAGTCACGAGCTGTAGCACC 0.498000 8 206 5.18039e-06 5.46296e-06 0.278610 1 0 PRSS3P2 154754 broad.mit.edu 37 7 142482292 142482292 + RNA SNP A A C TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr7:142482292A>C ENST00000603901.1 + 0 672 NR_001296.3 CCCAGAAGAGAAGGCCTGGAG 0.527000 3 35 0 0 0.387290 0 0 LRRC2 79442 broad.mit.edu 37 3 46563140 46563140 + Missense_Mutation SNP C C T TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr3:46563140C>T ENST00000395905.3 - 8 1330 c.938G>A c.(937-939)aGc>aAc p.S313N LRRC2_ENST00000296144.3_Missense_Mutation_p.S313N NM_024512.4 NP_078788.2 Q9BYS8 LRRC2_HUMAN leucine rich repeat containing 2 313 breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 17 Ovarian(412;0.0563) OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254) GTCCATAAGGCTTACAAATCT 0.358000 18 37 0 0 0.539581 0 0 HOOK2 29911 broad.mit.edu 37 19 12881984 12881984 + Silent SNP C C T TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr19:12881984C>T ENST00000264827.5 - 9 920 c.750G>A c.(748-750)gaG>gaA p.E250E HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Silent_p.E250E NM_001100176.1 NP_001093646.1 Q96ED9 HOOK2_HUMAN hook microtubule-tethering protein 2 250 Sufficient for interaction with microtubules. early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport centrosome|FHF complex|microtubule identical protein binding|microtubule binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1) 20 TGAAGTTCTCCTCCTGCAACT 0.672000 8 13 0 0 0.278610 0 0 GRIK2 2898 broad.mit.edu 37 6 102503431 102503432 + Frame_Shift_Ins INS - - A TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr6:102503431_102503432insA ENST00000369138.1 + 15 3028_3029 c.2538_2539insA c.(2536-2541)tcaaaafs p.SK846fs GRIK2_ENST00000421544.1_Frame_Shift_Ins_p.SK846fs|GRIK2_ENST00000318991.6_Frame_Shift_Ins_p.SK846fs|GRIK2_ENST00000413795.1_Frame_Shift_Ins_p.SK846fs|GRIK2_ENST00000369137.3_Frame_Shift_Ins_p.SK770fs|GRIK2_ENST00000369134.4_Frame_Shift_Ins_p.SK797fs NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 846 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.N849fs*12(1)|p.N849fs*14(1) NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) TATACAAATCCAAAAAAAACGC 0.351 7 171 --- --- --- --- MOAP1 64112 broad.mit.edu 37 14 93650300 93650301 + Frame_Shift_Ins INS - - G TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr14:93650300_93650301insG ENST00000556883.1 - 2 771_772 c.287_288insC c.(286-288)cgafs p.R96fs MOAP1_ENST00000298894.4_Frame_Shift_Ins_p.R96fs Q96BY2 MOAP1_HUMAN modulator of apoptosis 1 96 activation of caspase activity|apoptotic nuclear change cytoplasm protein homodimerization activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2) 13 all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13) Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204) tatctgggtcagggggcttaaa 0.475 49 138 --- --- --- --- LOC102723841 102723841 broad.mit.edu 37 16 33365420 33365420 + RNA DEL A A - TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr16:33365420delA ENST00000568520.1 - 0 249 TACAAACTATAAAAAAACAGA 0.358 4 9 --- --- --- --- ZNF579 163033 broad.mit.edu 37 19 56089908 56089909 + In_Frame_Ins INS - - CCG rs141478862 by1000genomes TCGA-B4-5834-01A-11D-1669-08 TCGA-B4-5834-10A-02D-1669-08 Untested Somatic Phase_I WXS none Illumina GAIIx 16c5931c-a751-4e91-a13a-4e8441673119 dff3f173-14b7-4d23-becc-d6436a9e9256 g.chr19:56089908_56089909insCCG ENST00000325421.4 - 2 1125_1126 c.1097_1098insCGG c.(1096-1098)gca>gCGGca p.366_366A>AA NM_152600.2 NP_689813.2 Q8NAF0 ZN579_HUMAN zinc finger protein 579 366 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G366_Q367insG(1) endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.106) CTCCGTTCTGCCCTTCTCCCCC 0.748 4 3 --- --- --- ---