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	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	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	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	MUTSIG_Significant_Genes	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	context_orig	context65	gene_name	newbase	categ	categ_ignoring_null_categ
HMCN1	83872	broad.mit.edu	37	1	186072723	186072724	+	Missense_Mutation	DNP	GA	TT	TT			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186072723_186072724GA>TT	uc001grq.1	+	69	10922_10923	c.10693_10694GA>TT	c.(10693-10695)GAT>TTT	p.D3565F		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3565	Ig-like C2-type 34.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---	capture		Missense_Mutation	DNP	186072723	186072724	7511	1	GA	TT	TT	33	33	HMCN1	TT	2	2
GOLGA6B	55889	broad.mit.edu	37	15	72957311	72957313	+	In_Frame_Del	DEL	GAG	-	-			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:72957311_72957313delGAG	uc010uks.1	+	14	1569_1571	c.1528_1530delGAG	c.(1528-1530)GAGdel	p.E513del	uc002aux.1_5'Flank|uc002auy.1_5'Flank	NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN	golgi autoantigen, golgin subfamily a, 6B	513	Potential.										0																		---	---	---	---	capture_indel		In_Frame_Del	DEL	72957311	72957313	6827	15	GAG	-	-	45	45	GOLGA6B	-	5	5
TP53	7157	broad.mit.edu	37	17	7578443	7578444	+	In_Frame_Ins	INS	-	GAT	GAT			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7578443_7578444insGAT	uc002gim.2	-	5	680_681	c.486_487insATC	c.(484-489)insATC	p.162_163insI	TP53_uc002gig.1_In_Frame_Ins_p.162_163insI|TP53_uc002gih.2_In_Frame_Ins_p.162_163insI|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_In_Frame_Ins_p.30_31insI|TP53_uc010cng.1_In_Frame_Ins_p.30_31insI|TP53_uc002gii.1_In_Frame_Ins_p.30_31insI|TP53_uc010cnh.1_In_Frame_Ins_p.162_163insI|TP53_uc010cni.1_In_Frame_Ins_p.162_163insI|TP53_uc002gij.2_In_Frame_Ins_p.162_163insI|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_In_Frame_Ins_p.69_70insI|TP53_uc002gio.2_In_Frame_Ins_p.30_31insI|TP53_uc010vug.1_In_Frame_Ins_p.123_124insI	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	162_163	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y163N(17)|p.Y163H(17)|p.I162F(8)|p.0?(7)|p.I162V(5)|p.I162I(4)|p.I162S(4)|p.I162N(3)|p.I162M(3)|p.Y163fs*7(2)|p.R156_I162delRVRAMAI(2)|p.Y163D(2)|p.I162fs*19(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I162_Y163delIY(1)|p.I162fs*8(1)|p.A161fs*7(1)|p.V157_I162delVRAMAI(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)			111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			---	---	---	---	capture_indel		In_Frame_Ins	INS	7578443	7578444	16923	17	-	GAT	GAT	15	15	TP53	GAT	5	5
OR7A10	390892	broad.mit.edu	37	19	14951778	14951778	+	Frame_Shift_Del	DEL	G	-	-			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14951778delG	uc002mzx.1	-	1	912	c.912delC	c.(910-912)TTCfs	p.F304fs		NM_001005190	NP_001005190	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A,	304	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Ovarian(108;0.203)																	---	---	---	---	capture_indel		Frame_Shift_Del	DEL	14951778	14951778	11625	19	G	-	-	33	33	OR7A10	-	5	5
LTBP1	4052	broad.mit.edu	37	2	33590512	33590512	+	Frame_Shift_Del	DEL	C	-	-			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:33590512delC	uc002ros.2	+	31	4656	c.4656delC	c.(4654-4656)TGCfs	p.C1552fs	LTBP1_uc002rot.2_Frame_Shift_Del_p.C1226fs|LTBP1_uc002rou.2_Frame_Shift_Del_p.C1225fs|LTBP1_uc002rov.2_Frame_Shift_Del_p.C1172fs|LTBP1_uc010ymz.1_Frame_Shift_Del_p.C1183fs|LTBP1_uc010yna.1_Frame_Shift_Del_p.C1130fs|LTBP1_uc010ynb.1_Frame_Shift_Del_p.C449fs	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1551	TB 4.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)																---	---	---	---	capture_indel		Frame_Shift_Del	DEL	33590512	33590512	9449	2	C	-	-	28	28	LTBP1	-	5	5
KIAA1211	57482	broad.mit.edu	37	4	57181591	57181591	+	Frame_Shift_Del	DEL	C	-	-			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:57181591delC	uc003hbk.2	+	8	2314	c.1923delC	c.(1921-1923)GGCfs	p.G641fs	KIAA1211_uc010iha.2_Frame_Shift_Del_p.G634fs|KIAA1211_uc011bzz.1_Frame_Shift_Del_p.G551fs|KIAA1211_uc003hbm.1_Frame_Shift_Del_p.G527fs	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	641										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)																	---	---	---	---	capture_indel		Frame_Shift_Del	DEL	57181591	57181591	8523	4	C	-	-	26	26	KIAA1211	-	5	5
CAMTA1	23261	broad.mit.edu	37	1	7724962	7724962	+	Silent	SNP	G	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:7724962G>A	uc001aoi.2	+	9	2562	c.2355G>A	c.(2353-2355)GGG>GGA	p.G785G		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	785					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)														---	---	---	---	capture		Silent	SNP	7724962	7724962	2730	1	G	A	A	43	43	CAMTA1	A	2	2
H6PD	9563	broad.mit.edu	37	1	9323588	9323588	+	Missense_Mutation	SNP	A	G	G			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:9323588A>G	uc001apt.2	+	5	1309	c.1036A>G	c.(1036-1038)AAC>GAC	p.N346D		NM_004285	NP_004276	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase precursor	346	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding				0	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)													---	---	---	---	capture		Missense_Mutation	SNP	9323588	9323588	7218	1	A	G	G	5	5	H6PD	G	4	4
KIF17	57576	broad.mit.edu	37	1	21031280	21031280	+	Silent	SNP	G	C	C			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:21031280G>C	uc001bdr.3	-	5	901	c.783C>G	c.(781-783)ACC>ACG	p.T261T	KIF17_uc001bds.3_Silent_p.T261T	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	261	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)|skin(1)	4		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)														---	---	---	---	capture		Silent	SNP	21031280	21031280	8590	1	G	C	C	47	47	KIF17	C	3	3
EIF4G3	8672	broad.mit.edu	37	1	21139701	21139701	+	Missense_Mutation	SNP	G	C	C			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:21139701G>C	uc001bec.2	-	30	4635	c.4379C>G	c.(4378-4380)CCT>CGT	p.P1460R	EIF4G3_uc010odi.1_Missense_Mutation_p.P1064R|EIF4G3_uc010odj.1_Missense_Mutation_p.P1459R|EIF4G3_uc009vpz.2_Missense_Mutation_p.P1180R|EIF4G3_uc001bed.2_Missense_Mutation_p.P1460R|EIF4G3_uc001bef.2_Missense_Mutation_p.P1496R|EIF4G3_uc001bee.2_Missense_Mutation_p.P1466R	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	1460	EIF4A-binding (By similarity).|W2.				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)														---	---	---	---	capture		Missense_Mutation	SNP	21139701	21139701	5229	1	G	C	C	35	35	EIF4G3	C	3	3
EPHB2	2048	broad.mit.edu	37	1	23189667	23189667	+	Missense_Mutation	SNP	C	A	A	rs150415344		TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:23189667C>A	uc009vqj.1	+	4	1094	c.949C>A	c.(949-951)CTG>ATG	p.L317M	EPHB2_uc001bge.2_Missense_Mutation_p.L317M|EPHB2_uc001bgf.2_Missense_Mutation_p.L317M|EPHB2_uc010odu.1_Missense_Mutation_p.L317M|hsa-mir-4253|MI0015860_RNA	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	317	Extracellular (Potential).|Cys-rich.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)										Hereditary_Prostate_Cancer				---	---	---	---	capture		Missense_Mutation	SNP	23189667	23189667	5368	1	C	A	A	24	24	EPHB2	A	2	2
RHD	6007	broad.mit.edu	37	1	25599144	25599144	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:25599144G>A	uc001bjz.2	+	1	164	c.106G>A	c.(106-108)GCT>ACT	p.A36T	RHD_uc010oep.1_Missense_Mutation_p.A36T|RHD_uc001bkc.2_Missense_Mutation_p.A36T|RHD_uc009vrm.2_5'UTR|RHD_uc001bka.2_Missense_Mutation_p.A36T|RHD_uc001bkb.2_Missense_Mutation_p.A36T|RHD_uc009vrn.2_Missense_Mutation_p.A36T|RHD_uc009vro.2_Missense_Mutation_p.A36T|RHD_uc009vrp.2_Missense_Mutation_p.A36T	NM_016124	NP_057208	Q02161	RHD_HUMAN	Rh blood group D antigen isoform 1	36						integral to plasma membrane				breast(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)														---	---	---	---	capture		Missense_Mutation	SNP	25599144	25599144	13802	1	G	A	A	38	38	RHD	A	1	1
RSPO1	284654	broad.mit.edu	37	1	38082241	38082241	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38082241G>T	uc001cbl.1	-	5	989	c.201C>A	c.(199-201)AAC>AAA	p.N67K	RSPO1_uc001cbm.1_Missense_Mutation_p.N67K|RSPO1_uc009vvf.1_Missense_Mutation_p.N40K|RSPO1_uc009vvg.1_Missense_Mutation_p.N67K	NM_001038633	NP_001033722	Q2MKA7	RSPO1_HUMAN	R-spondin1 precursor	67	FU 1.				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)																---	---	---	---	capture		Missense_Mutation	SNP	38082241	38082241	14189	1	G	T	T	40	40	RSPO1	T	1	1
TIE1	7075	broad.mit.edu	37	1	43775104	43775104	+	Missense_Mutation	SNP	G	C	C			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43775104G>C	uc001ciu.2	+	9	1313	c.1234G>C	c.(1234-1236)GAG>CAG	p.E412Q	TIE1_uc010okd.1_Missense_Mutation_p.E412Q|TIE1_uc010oke.1_Missense_Mutation_p.E367Q|TIE1_uc009vwq.2_Missense_Mutation_p.E368Q|TIE1_uc010okf.1_Missense_Mutation_p.E57Q|TIE1_uc010okg.1_Missense_Mutation_p.E57Q|TIE1_uc010okc.1_3'UTR	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	412	Ig-like C2-type 2.|Extracellular (Potential).				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)																---	---	---	---	capture		Missense_Mutation	SNP	43775104	43775104	16421	1	G	C	C	37	37	TIE1	C	3	3
ZSWIM5	57643	broad.mit.edu	37	1	45501360	45501360	+	Missense_Mutation	SNP	C	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45501360C>T	uc001cnd.2	-	10	2519	c.2291G>A	c.(2290-2292)AGG>AAG	p.R764K		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM domain containing 5	764							zinc ion binding				0	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---	capture		Missense_Mutation	SNP	45501360	45501360	18848	1	C	T	T	24	24	ZSWIM5	T	2	2
PRDX1	5052	broad.mit.edu	37	1	45980646	45980646	+	Silent	SNP	T	C	C			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45980646T>C	uc001cnz.2	-	3	314	c.282A>G	c.(280-282)CAA>CAG	p.Q94Q	PRDX1_uc001coa.2_Silent_p.Q94Q|PRDX1_uc001cob.2_Silent_p.Q94Q|PRDX1_uc001coc.2_Silent_p.Q94Q	NM_181697	NP_859048	Q06830	PRDX1_HUMAN	peroxiredoxin 1	94	Thioredoxin.				cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity				0	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---	capture		Silent	SNP	45980646	45980646	12907	1	T	C	C	56	56	PRDX1	C	4	4
LPPR5	163404	broad.mit.edu	37	1	99422237	99422237	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:99422237G>T	uc001dsb.2	-	2	520	c.298C>A	c.(298-300)CAG>AAG	p.Q100K	LPPR5_uc001dsc.2_Missense_Mutation_p.Q100K	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN	phosphatidic acid phosphatase type 2d isoform 1	100						integral to membrane	hydrolase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	99422237	99422237	9301	1	G	T	T	47	47	LPPR5	T	2	2
KCNC4	3749	broad.mit.edu	37	1	110754721	110754721	+	Silent	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110754721C>A	uc001dzh.2	+	1	657	c.600C>A	c.(598-600)GCC>GCA	p.A200A	KCNC4_uc001dzf.2_Silent_p.A200A|KCNC4_uc009wfr.2_Silent_p.A200A|KCNC4_uc001dzg.2_Silent_p.A200A|KCNC4_uc001dzi.2_RNA	NM_004978	NP_004969	Q03721	KCNC4_HUMAN	Shaw-related voltage-gated potassium channel	200	Cytoplasmic (Potential).				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)														---	---	---	---	capture		Silent	SNP	110754721	110754721	8322	1	C	A	A	23	23	KCNC4	A	1	1
TARS2	80222	broad.mit.edu	37	1	150477408	150477408	+	Missense_Mutation	SNP	T	C	C			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150477408T>C	uc001euq.2	+	16	1854	c.1847T>C	c.(1846-1848)GTG>GCG	p.V616A	TARS2_uc001eur.2_Missense_Mutation_p.V534A|TARS2_uc009wlt.2_Missense_Mutation_p.V242A|TARS2_uc009wls.2_Missense_Mutation_p.V486A	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial	616					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			ovary(1)	1	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)													---	---	---	---	capture		Missense_Mutation	SNP	150477408	150477408	16082	1	T	C	C	59	59	TARS2	C	4	4
RPTN	126638	broad.mit.edu	37	1	152129048	152129048	+	Missense_Mutation	SNP	T	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152129048T>A	uc001ezs.1	-	3	592	c.527A>T	c.(526-528)CAA>CTA	p.Q176L		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	repetin	176	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	152129048	152129048	14144	1	T	A	A	63	63	RPTN	A	4	4
HCN3	57657	broad.mit.edu	37	1	155252407	155252407	+	Missense_Mutation	SNP	C	T	T	rs34277242		TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155252407C>T	uc001fjz.1	+	2	492	c.484C>T	c.(484-486)CGG>TGG	p.R162W	RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_5'UTR	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic	162	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)|breast(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)															---	---	---	---	capture		Missense_Mutation	SNP	155252407	155252407	7280	1	C	T	T	27	27	HCN3	T	1	1
KLHL20	27252	broad.mit.edu	37	1	173703000	173703000	+	Missense_Mutation	SNP	A	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173703000A>T	uc001gjc.2	+	3	351	c.172A>T	c.(172-174)ATT>TTT	p.I58F	KLHL20_uc010pmr.1_Intron|KLHL20_uc009wwf.2_Missense_Mutation_p.I40F|KLHL20_uc001gjd.2_Missense_Mutation_p.I58F	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	kelch-like 20	58					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	173703000	173703000	8687	1	A	T	T	12	12	KLHL20	T	4	4
RC3H1	149041	broad.mit.edu	37	1	173907969	173907969	+	Missense_Mutation	SNP	T	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173907969T>A	uc001gju.3	-	19	3379	c.3292A>T	c.(3292-3294)AGC>TGC	p.S1098C	RC3H1_uc010pms.1_Missense_Mutation_p.S1089C|RC3H1_uc001gjv.2_Missense_Mutation_p.S1090C|RC3H1_uc010pmt.1_Missense_Mutation_p.S1099C	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	roquin	1098					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	173907969	173907969	13635	1	T	A	A	55	55	RC3H1	A	4	4
DHX9	1660	broad.mit.edu	37	1	182812436	182812436	+	Missense_Mutation	SNP	T	G	G			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:182812436T>G	uc001gpr.2	+	3	282	c.119T>G	c.(118-120)GTG>GGG	p.V40G	DHX9_uc001gps.2_5'UTR	NM_001357	NP_001348	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 9	40	DRBM 1.|Interaction with CREBBP.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	182812436	182812436	4695	1	T	G	G	59	59	DHX9	G	4	4
KCNT2	343450	broad.mit.edu	37	1	196461394	196461394	+	Nonsense_Mutation	SNP	G	C	C			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:196461394G>C	uc001gtd.1	-	2	233	c.173C>G	c.(172-174)TCA>TGA	p.S58*	KCNT2_uc001gte.1_Nonsense_Mutation_p.S58*|KCNT2_uc001gtf.1_Nonsense_Mutation_p.S58*|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Nonsense_Mutation_p.S58*|KCNT2_uc009wyv.1_Nonsense_Mutation_p.S58*	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	58	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7																		---	---	---	---	capture		Nonsense_Mutation	SNP	196461394	196461394	8397	1	G	C	C	45	45	KCNT2	C	5	3
CRB1	23418	broad.mit.edu	37	1	197404496	197404496	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197404496G>A	uc001gtz.2	+	9	3638	c.3503G>A	c.(3502-3504)GGA>GAA	p.G1168E	CRB1_uc010poz.1_Missense_Mutation_p.G1144E|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.G1056E|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.G649E|CRB1_uc001gub.1_Missense_Mutation_p.G817E	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	1168	Extracellular (Potential).|EGF-like 15.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9																		---	---	---	---	capture		Missense_Mutation	SNP	197404496	197404496	3987	1	G	A	A	41	41	CRB1	A	2	2
NAV1	89796	broad.mit.edu	37	1	201687855	201687855	+	Missense_Mutation	SNP	A	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201687855A>T	uc001gwu.2	+	3	1545	c.1198A>T	c.(1198-1200)ATG>TTG	p.M400L		NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	400					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	201687855	201687855	10579	1	A	T	T	8	8	NAV1	T	4	4
CR1L	1379	broad.mit.edu	37	1	207871122	207871122	+	Missense_Mutation	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:207871122C>A	uc001hga.3	+	7	1167	c.1046C>A	c.(1045-1047)TCC>TAC	p.S349Y	CR1L_uc001hfz.2_RNA|CR1L_uc001hgb.1_RNA	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	349	Sushi 6.					cytoplasm|extracellular region|membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	207871122	207871122	3980	1	C	A	A	30	30	CR1L	A	2	2
KCNH1	3756	broad.mit.edu	37	1	210948775	210948775	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:210948775G>A	uc001hib.2	-	10	2197	c.2027C>T	c.(2026-2028)GCC>GTC	p.A676V	KCNH1_uc001hic.2_Missense_Mutation_p.A649V	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	676	Cytoplasmic (Potential).|cNMP.|Calmodulin-binding.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)														---	---	---	---	capture		Missense_Mutation	SNP	210948775	210948775	8336	1	G	A	A	42	42	KCNH1	A	2	2
USH2A	7399	broad.mit.edu	37	1	216256872	216256872	+	Missense_Mutation	SNP	A	G	G			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:216256872A>G	uc001hku.1	-	26	5611	c.5224T>C	c.(5224-5226)TTT>CTT	p.F1742L		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1742	Laminin G-like 2.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)											HNSCC(13;0.011)			---	---	---	---	capture		Missense_Mutation	SNP	216256872	216256872	17598	1	A	G	G	3	3	USH2A	G	4	4
USH2A	7399	broad.mit.edu	37	1	216595381	216595381	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:216595381G>A	uc001hku.1	-	2	685	c.298C>T	c.(298-300)CTT>TTT	p.L100F	USH2A_uc001hkv.2_Missense_Mutation_p.L100F	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	100	Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)											HNSCC(13;0.011)			---	---	---	---	capture		Missense_Mutation	SNP	216595381	216595381	17598	1	G	A	A	35	35	USH2A	A	2	2
RHOU	58480	broad.mit.edu	37	1	228873446	228873446	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228873446G>A	uc001htf.2	+	2	910	c.289G>A	c.(289-291)GTG>ATG	p.V97M		NM_021205	NP_067028	Q7L0Q8	RHOU_HUMAN	ras homolog gene family, member U	97					regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding				0	Breast(184;0.162)	Prostate(94;0.183)																---	---	---	---	capture		Missense_Mutation	SNP	228873446	228873446	13820	1	G	A	A	40	40	RHOU	A	1	1
TAF5L	27097	broad.mit.edu	37	1	229738436	229738436	+	Missense_Mutation	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:229738436C>A	uc001htq.2	-	4	644	c.478G>T	c.(478-480)GAT>TAT	p.D160Y	TAF5L_uc001htr.2_Missense_Mutation_p.D160Y	NM_014409	NP_055224	O75529	TAF5L_HUMAN	PCAF associated factor 65 beta isoform a	160					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)	1	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)																---	---	---	---	capture		Missense_Mutation	SNP	229738436	229738436	16050	1	C	A	A	32	32	TAF5L	A	2	2
RYR2	6262	broad.mit.edu	37	1	237778080	237778080	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237778080G>T	uc001hyl.1	+	37	5772	c.5652G>T	c.(5650-5652)AAG>AAT	p.K1884N		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1884	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)															---	---	---	---	capture		Missense_Mutation	SNP	237778080	237778080	14249	1	G	T	T	35	35	RYR2	T	2	2
FMN2	56776	broad.mit.edu	37	1	240256012	240256012	+	Silent	SNP	G	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:240256012G>A	uc010pyd.1	+	1	828	c.603G>A	c.(601-603)CAG>CAA	p.Q201Q	FMN2_uc010pye.1_Silent_p.Q201Q	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	201	Potential.|Gln-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)															---	---	---	---	capture		Silent	SNP	240256012	240256012	6192	1	G	A	A	35	35	FMN2	A	2	2
FMN2	56776	broad.mit.edu	37	1	240519117	240519117	+	Silent	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:240519117C>A	uc010pyd.1	+	14	4992	c.4767C>A	c.(4765-4767)GCC>GCA	p.A1589A	FMN2_uc010pye.1_Silent_p.A1593A|FMN2_uc010pyf.1_Intron|FMN2_uc010pyg.1_Silent_p.A185A	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1589	FH2.|Potential.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)															---	---	---	---	capture		Silent	SNP	240519117	240519117	6192	1	C	A	A	24	24	FMN2	A	2	2
RGS7	6000	broad.mit.edu	37	1	241146395	241146395	+	Silent	SNP	T	C	C			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:241146395T>C	uc001hyv.2	-	4	540	c.210A>G	c.(208-210)TTA>TTG	p.L70L	RGS7_uc010pyh.1_Silent_p.L44L|RGS7_uc010pyj.1_5'UTR|RGS7_uc001hyu.2_Silent_p.L70L|RGS7_uc009xgn.1_Silent_p.L70L|RGS7_uc001hyw.2_Silent_p.L70L	NM_002924	NP_002915	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	70	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			ovary(4)|skin(2)|kidney(1)	7		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)															---	---	---	---	capture		Silent	SNP	241146395	241146395	13784	1	T	C	C	61	61	RGS7	C	4	4
SDCCAG8	10806	broad.mit.edu	37	1	243581361	243581361	+	Silent	SNP	A	G	G			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:243581361A>G	uc001hzw.2	+	15	1992	c.1836A>G	c.(1834-1836)CAA>CAG	p.Q612Q	SDCCAG8_uc010pyk.1_Silent_p.Q467Q|SDCCAG8_uc010pyl.1_Silent_p.Q424Q|SDCCAG8_uc001hzx.2_Intron	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	612	Mediates interaction with OFD1.|Gln-rich.|Potential.|Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding				0	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)														---	---	---	---	capture		Silent	SNP	243581361	243581361	14444	1	A	G	G	1	1	SDCCAG8	G	4	4
OR2M2	391194	broad.mit.edu	37	1	248343811	248343811	+	Missense_Mutation	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248343811C>A	uc010pzf.1	+	1	524	c.524C>A	c.(523-525)GCC>GAC	p.A175D		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M,	175	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|skin(1)	4	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)															---	---	---	---	capture		Missense_Mutation	SNP	248343811	248343811	11416	1	C	A	A	26	26	OR2M2	A	2	2
FRMD4A	55691	broad.mit.edu	37	10	13736020	13736020	+	Missense_Mutation	SNP	C	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:13736020C>T	uc001ims.2	-	15	1347	c.995G>A	c.(994-996)CGC>CAC	p.R332H	FRMD4A_uc009xjf.1_Missense_Mutation_p.R332H|FRMD4A_uc001imt.1_Missense_Mutation_p.R365H|FRMD4A_uc001imu.1_Missense_Mutation_p.R348H	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	332						cytoplasm|cytoskeleton	binding			ovary(1)|skin(1)|pancreas(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	13736020	13736020	6301	10	C	T	T	27	27	FRMD4A	T	1	1
CCDC7	221016	broad.mit.edu	37	10	32856664	32856664	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:32856664G>A	uc001iwj.2	+	16	1834	c.1264G>A	c.(1264-1266)GGG>AGG	p.G422R	CCDC7_uc001iwk.2_Missense_Mutation_p.G422R|CCDC7_uc009xlv.2_RNA|C10orf68_uc001iwl.1_5'UTR|C10orf68_uc001iwm.1_5'UTR|C10orf68_uc001iwn.3_5'UTR	NM_145023	NP_659460	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	422											0		Breast(68;0.000207)|Prostate(175;0.0107)																---	---	---	---	capture		Missense_Mutation	SNP	32856664	32856664	2965	10	G	A	A	43	43	CCDC7	A	2	2
ZNF25	219749	broad.mit.edu	37	10	38241972	38241972	+	Missense_Mutation	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:38241972C>A	uc001ize.1	-	6	559	c.454G>T	c.(454-456)GGG>TGG	p.G152W	ZNF25_uc001izf.1_Missense_Mutation_p.G116W	NM_145011	NP_659448	P17030	ZNF25_HUMAN	zinc finger protein 25	152	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|central_nervous_system(1)	4		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)																---	---	---	---	capture		Missense_Mutation	SNP	38241972	38241972	18385	10	C	A	A	21	21	ZNF25	A	2	2
PGBD3	267004	broad.mit.edu	37	10	50724411	50724411	+	Silent	SNP	T	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:50724411T>A	uc001jht.2	-	2	1005	c.750A>T	c.(748-750)ATA>ATT	p.I250I	ERCC6_uc001jhs.3_Intron|PGBD3_uc009xoe.2_Silent_p.I718I|PGBD3_uc001jhu.2_Silent_p.I718I	NM_170753	NP_736609	Q8N328	PGBD3_HUMAN	hypothetical protein LOC267004	250										pancreas(1)|breast(1)|skin(1)	3																		---	---	---	---	capture		Silent	SNP	50724411	50724411	12205	10	T	A	A	61	61	PGBD3	A	4	4
ANK3	288	broad.mit.edu	37	10	61836114	61836114	+	Missense_Mutation	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:61836114C>A	uc001jky.2	-	37	4717	c.4525G>T	c.(4525-4527)GCT>TCT	p.A1509S	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron|ANK3_uc009xpc.1_RNA	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	1509					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19																		---	---	---	---	capture		Missense_Mutation	SNP	61836114	61836114	625	10	C	A	A	28	28	ANK3	A	2	2
CTNNA3	29119	broad.mit.edu	37	10	67680245	67680245	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:67680245G>T	uc009xpn.1	-	18	2654	c.2531C>A	c.(2530-2532)CCA>CAA	p.P844Q	CTNNA3_uc001jmw.2_Missense_Mutation_p.P844Q	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	844					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8																		---	---	---	---	capture		Missense_Mutation	SNP	67680245	67680245	4173	10	G	T	T	47	47	CTNNA3	T	2	2
PPA1	5464	broad.mit.edu	37	10	71974268	71974268	+	Silent	SNP	T	C	C			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:71974268T>C	uc001jqv.1	-	5	479	c.372A>G	c.(370-372)GAA>GAG	p.E124E		NM_021129	NP_066952	Q15181	IPYR_HUMAN	pyrophosphatase 1	124					diphosphate metabolic process|tRNA aminoacylation for protein translation	cytosol	inorganic diphosphatase activity|magnesium ion binding			breast(1)	1																		---	---	---	---	capture		Silent	SNP	71974268	71974268	12716	10	T	C	C	64	64	PPA1	C	4	4
SFTPA2	729238	broad.mit.edu	37	10	81319118	81319118	+	Missense_Mutation	SNP	A	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:81319118A>T	uc001kal.3	-	3	219	c.122T>A	c.(121-123)CTG>CAG	p.L41Q	SFTPA2_uc001kan.3_Missense_Mutation_p.L41Q|SFTPA2_uc001kam.2_RNA	NM_006926	NP_008857	Q8IWL1	SFPA2_HUMAN	RecName: Full=Pulmonary surfactant-associated protein A2;          Short=SP-A2;          Short=SP-A;          Short=PSP-A;          Short=PSPA; AltName: Full=Alveolar proteinosis protein; AltName: Full=35 kDa pulmonary surfactant-associated protein; Flags: Precursor;	41	Collagen-like.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding				0	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)											Pulmonary_Fibrosis_Idiopathic				---	---	---	---	capture		Missense_Mutation	SNP	81319118	81319118	14681	10	A	T	T	7	7	SFTPA2	T	4	4
GRID1	2894	broad.mit.edu	37	10	87362103	87362103	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:87362103G>T	uc001kdl.1	-	16	3058	c.2957C>A	c.(2956-2958)CCC>CAC	p.P986H	GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.P557H|uc001kdk.1_Intron	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	986	Cytoplasmic (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)										Multiple Myeloma(13;0.14)			---	---	---	---	capture		Missense_Mutation	SNP	87362103	87362103	7049	10	G	T	T	43	43	GRID1	T	2	2
NOLC1	9221	broad.mit.edu	37	10	103919769	103919769	+	Missense_Mutation	SNP	A	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103919769A>T	uc001kuo.2	+	8	1211	c.976A>T	c.(976-978)AGT>TGT	p.S326C	NOLC1_uc001kup.2_Missense_Mutation_p.S336C|NOLC1_uc001kuq.2_Missense_Mutation_p.S327C|NOLC1_uc009xxb.1_Missense_Mutation_p.S45C|NOLC1_uc001kur.2_Missense_Mutation_p.S45C	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	326	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.|Acidic serine cluster 6.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)														---	---	---	---	capture		Missense_Mutation	SNP	103919769	103919769	10932	10	A	T	T	7	7	NOLC1	T	4	4
ACTR1A	10121	broad.mit.edu	37	10	104242820	104242820	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104242820G>T	uc001kvv.2	-	7	806	c.698C>A	c.(697-699)ACG>AAG	p.T233K	ACTR1A_uc010qqn.1_Missense_Mutation_p.T159K|ACTR1A_uc010qqo.1_Missense_Mutation_p.T186K	NM_005736	NP_005727	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A,	233					G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding			central_nervous_system(1)	1		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)														---	---	---	---	capture		Missense_Mutation	SNP	104242820	104242820	210	10	G	T	T	40	40	ACTR1A	T	1	1
MUC5B	727897	broad.mit.edu	37	11	1254275	1254275	+	Missense_Mutation	SNP	C	G	G			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1254275C>G	uc009ycr.1	+	34	4201	c.4075C>G	c.(4075-4077)CGC>GGC	p.R1359G	MUC5B_uc009yct.1_Missense_Mutation_p.R700G|MUC5B_uc001ltb.2_Missense_Mutation_p.R703G|MUC5B_uc001lta.2_Missense_Mutation_p.R368G	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	700	TIL 2.			R -> P (in Ref. 3; CAA06167).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)														---	---	---	---	capture		Missense_Mutation	SNP	1254275	1254275	10373	11	C	G	G	27	27	MUC5B	G	3	3
OR56A4	120793	broad.mit.edu	37	11	6023346	6023346	+	Missense_Mutation	SNP	T	C	C			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6023346T>C	uc010qzv.1	-	1	1033	c.1033A>G	c.(1033-1035)ATT>GTT	p.I345V		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A,	293	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture		Missense_Mutation	SNP	6023346	6023346	11545	11	T	C	C	51	51	OR56A4	C	4	4
CCKBR	887	broad.mit.edu	37	11	6281297	6281297	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6281297G>T	uc001mcp.2	+	1	332	c.139G>T	c.(139-141)GCC>TCC	p.A47S	CCKBR_uc001mcq.2_5'UTR|CCKBR_uc001mcr.2_Missense_Mutation_p.A47S|CCKBR_uc001mcs.2_Missense_Mutation_p.A47S	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	47	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			lung(5)|ovary(2)|breast(1)	8		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)													---	---	---	---	capture		Missense_Mutation	SNP	6281297	6281297	3006	11	G	T	T	34	34	CCKBR	T	2	2
DCHS1	8642	broad.mit.edu	37	11	6661831	6661831	+	Silent	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6661831C>A	uc001mem.1	-	2	1424	c.1014G>T	c.(1012-1014)GGG>GGT	p.G338G		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	338	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture		Silent	SNP	6661831	6661831	4458	11	C	A	A	22	22	DCHS1	A	2	2
PDE3B	5140	broad.mit.edu	37	11	14889073	14889073	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:14889073G>A	uc001mln.2	+	15	3261	c.2908G>A	c.(2908-2910)GGT>AGT	p.G970S	PDE3B_uc010rcr.1_Missense_Mutation_p.G919S	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	970	Catalytic (By similarity).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	14889073	14889073	12059	11	G	A	A	47	47	PDE3B	A	2	2
C11orf46	120534	broad.mit.edu	37	11	30358242	30358242	+	Missense_Mutation	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:30358242C>A	uc001mso.1	+	4	847	c.683C>A	c.(682-684)TCT>TAT	p.S228Y	C11orf46_uc001msp.2_5'Flank	NM_152316	NP_689529	Q8N8R7	CK046_HUMAN	hypothetical protein LOC120534	228	Cys-rich.										0																		---	---	---	---	capture		Missense_Mutation	SNP	30358242	30358242	1682	11	C	A	A	32	32	C11orf46	A	2	2
PRR5L	79899	broad.mit.edu	37	11	36440842	36440842	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:36440842G>A	uc001mwo.3	+	4	672	c.283G>A	c.(283-285)GAC>AAC	p.D95N	PRR5L_uc001mwp.2_Missense_Mutation_p.D95N|PRR5L_uc009ykk.2_Missense_Mutation_p.D14N|PRR5L_uc010rfc.1_Missense_Mutation_p.D95N	NM_001160167	NP_001153639	Q6MZQ0	PRR5L_HUMAN	protor-2 isoform a	95										ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	36440842	36440842	13051	11	G	A	A	33	33	PRR5L	A	2	2
OR5T3	390154	broad.mit.edu	37	11	56019884	56019884	+	Missense_Mutation	SNP	T	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56019884T>A	uc010rjd.1	+	1	209	c.209T>A	c.(208-210)ATA>AAA	p.I70K		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T,	70	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00448)																	---	---	---	---	capture		Missense_Mutation	SNP	56019884	56019884	11593	11	T	A	A	49	49	OR5T3	A	4	4
OR5T3	390154	broad.mit.edu	37	11	56020603	56020603	+	Missense_Mutation	SNP	A	G	G			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56020603A>G	uc010rjd.1	+	1	928	c.928A>G	c.(928-930)ATT>GTT	p.I310V		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T,	310	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00448)																	---	---	---	---	capture		Missense_Mutation	SNP	56020603	56020603	11593	11	A	G	G	4	4	OR5T3	G	4	4
LRRC55	219527	broad.mit.edu	37	11	56954920	56954920	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56954920G>T	uc001njl.1	+	2	1139	c.992G>T	c.(991-993)CGC>CTC	p.R331L	LRRC55_uc001njm.1_5'Flank	NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	301						integral to membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	56954920	56954920	9386	11	G	T	T	38	38	LRRC55	T	1	1
GAL3ST3	89792	broad.mit.edu	37	11	65810520	65810520	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65810520G>A	uc001ogv.2	-	2	914	c.754C>T	c.(754-756)CGG>TGG	p.R252W	GAL3ST3_uc001ogw.2_Missense_Mutation_p.R252W	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	252	Lumenal (Potential).				monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	65810520	65810520	6463	11	G	A	A	38	38	GAL3ST3	A	1	1
SF3B2	10992	broad.mit.edu	37	11	65820501	65820501	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65820501G>T	uc001ogy.1	+	3	224	c.184G>T	c.(184-186)GGC>TGC	p.G62C	SF3B2_uc001ogx.1_Missense_Mutation_p.G62C	NM_006842	NP_006833	Q13435	SF3B2_HUMAN	splicing factor 3B subunit 2	62					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(2)|breast(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	65820501	65820501	14640	11	G	T	T	47	47	SF3B2	T	2	2
MYO7A	4647	broad.mit.edu	37	11	76893183	76893183	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:76893183G>A	uc001oyb.2	+	24	3363	c.3091G>A	c.(3091-3093)GAC>AAC	p.D1031N	MYO7A_uc010rsl.1_Missense_Mutation_p.D1031N|MYO7A_uc010rsm.1_Missense_Mutation_p.D1020N|MYO7A_uc001oyc.2_Missense_Mutation_p.D1031N|MYO7A_uc001oyd.2_Missense_Mutation_p.D371N|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Missense_Mutation_p.D242N	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	1031	MyTH4 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	76893183	76893183	10477	11	G	A	A	37	37	MYO7A	A	1	1
GUCY1A2	2977	broad.mit.edu	37	11	106681023	106681023	+	Missense_Mutation	SNP	T	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:106681023T>A	uc001pjg.1	-	5	1778	c.1388A>T	c.(1387-1389)GAT>GTT	p.D463V	GUCY1A2_uc010rvo.1_Missense_Mutation_p.D484V|GUCY1A2_uc009yxn.1_Missense_Mutation_p.D463V	NM_000855	NP_000846	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	463					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)														---	---	---	---	capture		Missense_Mutation	SNP	106681023	106681023	7173	11	T	A	A	50	50	GUCY1A2	A	4	4
DSCAML1	57453	broad.mit.edu	37	11	117301686	117301686	+	Missense_Mutation	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117301686C>A	uc001prh.1	-	32	5620	c.5618G>T	c.(5617-5619)CGG>CTG	p.R1873L		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1813	Cytoplasmic (Potential).				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)														---	---	---	---	capture		Missense_Mutation	SNP	117301686	117301686	4953	11	C	A	A	23	23	DSCAML1	A	1	1
ARHGEF12	23365	broad.mit.edu	37	11	120317760	120317760	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:120317760G>A	uc001pxl.1	+	18	1562	c.1555G>A	c.(1555-1557)GCA>ACA	p.A519T	ARHGEF12_uc009zat.2_Missense_Mutation_p.A500T|ARHGEF12_uc010rzn.1_Missense_Mutation_p.A416T|ARHGEF12_uc009zau.1_Missense_Mutation_p.A416T	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	519	RGSL.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|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	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(2)|breast(2)|skin(2)|ovary(1)	7		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)				T	MLL	AML								---	---	---	---	capture		Missense_Mutation	SNP	120317760	120317760	911	11	G	A	A	46	46	ARHGEF12	A	2	2
SORL1	6653	broad.mit.edu	37	11	121485765	121485765	+	Splice_Site	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:121485765G>T	uc001pxx.2	+	41	5684	c.5604_splice	c.e41+1	p.V1868_splice	SORL1_uc010rzp.1_Splice_Site_p.V714_splice|SORL1_uc010rzq.1_Splice_Site_p.V483_splice	NM_003105	NP_003096			sortilin-related receptor containing LDLR class						cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)														---	---	---	---	capture		Splice_Site	SNP	121485765	121485765	15434	11	G	T	T	44	44	SORL1	T	5	2
ASAM	79827	broad.mit.edu	37	11	122945410	122945410	+	Missense_Mutation	SNP	C	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:122945410C>T	uc001pyt.2	-	6	1180	c.821G>A	c.(820-822)CGA>CAA	p.R274Q		NM_024769	NP_079045	Q9H6B4	CLMP_HUMAN	adipocyte-specific adhesion molecule precursor	274	Cytoplasmic (Potential).					integral to membrane|tight junction					0		Breast(109;0.0025)|Lung NSC(97;0.0179)|all_lung(97;0.0182)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.73e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)														---	---	---	---	capture		Missense_Mutation	SNP	122945410	122945410	1027	11	C	T	T	23	23	ASAM	T	1	1
OR10G8	219869	broad.mit.edu	37	11	123901029	123901029	+	Missense_Mutation	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123901029C>A	uc001pzp.1	+	1	700	c.700C>A	c.(700-702)CAC>AAC	p.H234N		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	234	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)														---	---	---	---	capture		Missense_Mutation	SNP	123901029	123901029	11309	11	C	A	A	25	25	OR10G8	A	2	2
ITFG2	55846	broad.mit.edu	37	12	2927299	2927299	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:2927299G>T	uc001qlb.1	+	4	326	c.262G>T	c.(262-264)GGC>TGC	p.G88C	ITFG2_uc001qla.1_Missense_Mutation_p.G88C|ITFG2_uc010seb.1_Intron|ITFG2_uc010sec.1_RNA	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	88											0			OV - Ovarian serous cystadenocarcinoma(31;0.000818)															---	---	---	---	capture		Missense_Mutation	SNP	2927299	2927299	8174	12	G	T	T	35	35	ITFG2	T	2	2
CLSTN3	9746	broad.mit.edu	37	12	7295832	7295832	+	Missense_Mutation	SNP	A	G	G			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7295832A>G	uc001qsr.2	+	12	2050	c.1772A>G	c.(1771-1773)CAG>CGG	p.Q591R	CLSTN3_uc001qss.2_Missense_Mutation_p.Q603R	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	calsyntenin 3 precursor	591	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			large_intestine(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	7295832	7295832	3701	12	A	G	G	7	7	CLSTN3	G	4	4
ABCC9	10060	broad.mit.edu	37	12	22065959	22065959	+	Missense_Mutation	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:22065959C>A	uc001rfi.1	-	6	878	c.858G>T	c.(856-858)TGG>TGT	p.W286C	ABCC9_uc001rfh.2_Missense_Mutation_p.W286C|ABCC9_uc001rfj.1_Missense_Mutation_p.W286C	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	286	Cytoplasmic (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)													---	---	---	---	capture		Missense_Mutation	SNP	22065959	22065959	60	12	C	A	A	26	26	ABCC9	A	2	2
MON2	23041	broad.mit.edu	37	12	62954653	62954653	+	Silent	SNP	A	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:62954653A>T	uc001sre.2	+	26	4183	c.3792A>T	c.(3790-3792)CTA>CTT	p.L1264L	MON2_uc009zqj.2_Silent_p.L1264L|MON2_uc010ssl.1_Silent_p.L1192L|MON2_uc010ssm.1_Silent_p.L1241L|MON2_uc010ssn.1_Silent_p.L1264L|MON2_uc001srf.2_Silent_p.L1027L|MON2_uc001srg.2_Silent_p.L139L	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	MON2 homolog	1265					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)														---	---	---	---	capture		Silent	SNP	62954653	62954653	10091	12	A	T	T	13	13	MON2	T	4	4
TSPAN8	7103	broad.mit.edu	37	12	71519129	71519129	+	Missense_Mutation	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:71519129C>A	uc009zrt.1	-	8	861	c.699G>T	c.(697-699)CAG>CAT	p.Q233H	TSPAN8_uc001swk.1_Missense_Mutation_p.Q233H|TSPAN8_uc001swj.1_Missense_Mutation_p.Q233H	NM_004616	NP_004607	P19075	TSN8_HUMAN	transmembrane 4 superfamily member 3	233	Cytoplasmic (Potential).				protein glycosylation	integral to membrane|lysosome	signal transducer activity			skin(2)|lung(1)|central_nervous_system(1)	4			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)															---	---	---	---	capture		Missense_Mutation	SNP	71519129	71519129	17204	12	C	A	A	32	32	TSPAN8	A	2	2
NAV3	89795	broad.mit.edu	37	12	78400211	78400211	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:78400211G>T	uc001syp.2	+	8	1066	c.893G>T	c.(892-894)GGA>GTA	p.G298V	NAV3_uc001syo.2_Missense_Mutation_p.G298V	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	298						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17															HNSCC(70;0.22)			---	---	---	---	capture		Missense_Mutation	SNP	78400211	78400211	10581	12	G	T	T	41	41	NAV3	T	2	2
MYF5	4617	broad.mit.edu	37	12	81110943	81110943	+	Missense_Mutation	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:81110943C>A	uc001szg.2	+	1	236	c.101C>A	c.(100-102)CCG>CAG	p.P34Q		NM_005593	NP_005584	P13349	MYF5_HUMAN	myogenic factor 5	34					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	81110943	81110943	10422	12	C	A	A	23	23	MYF5	A	1	1
C12orf48	55010	broad.mit.edu	37	12	102569288	102569288	+	Silent	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:102569288G>T	uc001tjf.2	+	7	961	c.849G>T	c.(847-849)GTG>GTT	p.V283V	C12orf48_uc001tjg.2_Silent_p.V202V|C12orf48_uc010swa.1_Silent_p.V360V|C12orf48_uc001tjh.2_Silent_p.V202V|C12orf48_uc010swb.1_Intron|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_5'UTR|C12orf48_uc001tjk.2_Intron|C12orf48_uc009zud.2_Intron	NM_017915	NP_060385	Q9NWS1	PR1BP_HUMAN	hypothetical protein LOC55010	283					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding				0																		---	---	---	---	capture		Silent	SNP	102569288	102569288	1736	12	G	T	T	45	45	C12orf48	T	2	2
SKA3	221150	broad.mit.edu	37	13	21742230	21742230	+	Missense_Mutation	SNP	C	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:21742230C>T	uc001unt.2	-	4	734	c.640G>A	c.(640-642)GAG>AAG	p.E214K	SKA3_uc001unv.2_Missense_Mutation_p.E132K|SKA3_uc001unu.2_Missense_Mutation_p.E214K	NM_145061	NP_659498	Q8IX90	SKA3_HUMAN	SKA3	214					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	21742230	21742230	14849	13	C	T	T	29	29	SKA3	T	2	2
PDS5B	23047	broad.mit.edu	37	13	33233343	33233343	+	Missense_Mutation	SNP	A	G	G			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:33233343A>G	uc010abf.2	+	6	708	c.550A>G	c.(550-552)ATT>GTT	p.I184V	PDS5B_uc001uuo.2_Missense_Mutation_p.I184V|PDS5B_uc010abg.2_RNA	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog	184					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			ovary(2)|lung(1)|pancreas(1)	4		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)														---	---	---	---	capture		Missense_Mutation	SNP	33233343	33233343	12113	13	A	G	G	16	16	PDS5B	G	4	4
MAB21L1	4081	broad.mit.edu	37	13	36049443	36049443	+	Missense_Mutation	SNP	A	G	G			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:36049443A>G	uc001uvc.2	-	1	1390	c.833T>C	c.(832-834)GTT>GCT	p.V278A	NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	mab-21-like protein 1	278					anatomical structure morphogenesis	nucleus				ovary(2)	2		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)														---	---	---	---	capture		Missense_Mutation	SNP	36049443	36049443	9518	13	A	G	G	2	2	MAB21L1	G	4	4
MYH6	4624	broad.mit.edu	37	14	23862179	23862179	+	Missense_Mutation	SNP	G	C	C			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23862179G>C	uc001wjv.2	-	24	3260	c.3193C>G	c.(3193-3195)CAG>GAG	p.Q1065E		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1065	Potential.		Q -> H (in CMH14).		adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)														---	---	---	---	capture		Missense_Mutation	SNP	23862179	23862179	10433	14	G	C	C	47	47	MYH6	C	3	3
CBLN3	643866	broad.mit.edu	37	14	24897140	24897140	+	Missense_Mutation	SNP	G	C	C			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24897140G>C	uc001wpg.3	-	3	944	c.473C>G	c.(472-474)CCT>CGT	p.P158R	KHNYN_uc010tpc.1_5'Flank|KHNYN_uc001wph.3_5'Flank|KHNYN_uc010alw.2_5'Flank	NM_001039771	NP_001034860	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	158	Necessary for interaction with CBLN3, and homotrimerization (By similarity).|C1q.					cell junction|extracellular region|synapse				central_nervous_system(1)	1				GBM - Glioblastoma multiforme(265;0.00159)														---	---	---	---	capture		Missense_Mutation	SNP	24897140	24897140	2825	14	G	C	C	35	35	CBLN3	C	3	3
AKAP6	9472	broad.mit.edu	37	14	33015113	33015113	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:33015113G>T	uc001wrq.2	+	4	1424	c.1254G>T	c.(1252-1254)AAG>AAT	p.K418N	AKAP6_uc010aml.2_Missense_Mutation_p.K415N	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	418					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)														---	---	---	---	capture		Missense_Mutation	SNP	33015113	33015113	458	14	G	T	T	34	34	AKAP6	T	2	2
LRFN5	145581	broad.mit.edu	37	14	42357212	42357212	+	Missense_Mutation	SNP	A	G	G			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:42357212A>G	uc001wvm.2	+	3	2582	c.1384A>G	c.(1384-1386)AGA>GGA	p.R462G	LRFN5_uc010ana.2_Missense_Mutation_p.R462G	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	462	Extracellular (Potential).|Fibronectin type-III.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)											HNSCC(30;0.082)			---	---	---	---	capture		Missense_Mutation	SNP	42357212	42357212	9314	14	A	G	G	7	7	LRFN5	G	4	4
FSCB	84075	broad.mit.edu	37	14	44975317	44975317	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:44975317G>T	uc001wvn.2	-	1	1183	c.874C>A	c.(874-876)CAA>AAA	p.Q292K		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	292						cilium				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9				GBM - Glioblastoma multiforme(112;0.128)														---	---	---	---	capture		Missense_Mutation	SNP	44975317	44975317	6316	14	G	T	T	47	47	FSCB	T	2	2
NID2	22795	broad.mit.edu	37	14	52493960	52493960	+	Missense_Mutation	SNP	G	T	T	rs147631741		TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:52493960G>T	uc001wzo.2	-	12	2867	c.2633C>A	c.(2632-2634)GCC>GAC	p.A878D	NID2_uc010tqs.1_Intron|NID2_uc010tqt.1_Missense_Mutation_p.A878D|NID2_uc001wzp.2_Missense_Mutation_p.A878D	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	878	EGF-like 4.					basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)																	---	---	---	---	capture		Missense_Mutation	SNP	52493960	52493960	10816	14	G	T	T	42	42	NID2	T	2	2
NID2	22795	broad.mit.edu	37	14	52534714	52534714	+	Silent	SNP	C	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:52534714C>T	uc001wzo.2	-	2	630	c.396G>A	c.(394-396)GTG>GTA	p.V132V	NID2_uc010tqs.1_Silent_p.V132V|NID2_uc010tqt.1_Silent_p.V132V|NID2_uc001wzp.2_Silent_p.V132V	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	132	NIDO.					basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)																	---	---	---	---	capture		Silent	SNP	52534714	52534714	10816	14	C	T	T	25	25	NID2	T	2	2
GPHN	10243	broad.mit.edu	37	14	67588971	67588971	+	Splice_Site	SNP	A	G	G			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:67588971A>G	uc001xiy.2	+	16	2649	c.1528_splice	c.e16-2	p.L510_splice	GPHN_uc001xix.2_Splice_Site_p.L543_splice|GPHN_uc010tss.1_Splice_Site_p.L556_splice|GPHN_uc010tst.1_Splice_Site_p.L479_splice|GPHN_uc010tsu.1_Splice_Site_p.L433_splice	NM_001024218	NP_001019389			gephyrin isoform 2						Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			ovary(2)	2		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)				T	MLL	AL								---	---	---	---	capture		Splice_Site	SNP	67588971	67588971	6884	14	A	G	G	15	15	GPHN	G	5	4
C14orf179	112752	broad.mit.edu	37	14	76549569	76549569	+	Splice_Site	SNP	G	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:76549569G>A	uc010asm.1	+	8	479	c.445_splice	c.e8-1	p.D149_splice	C14orf179_uc001xsg.2_Splice_Site_p.D154_splice|C14orf179_uc010tve.1_Splice_Site	NM_001102564	NP_001096034			hypothetical protein LOC112752 isoform 2						cilium morphogenesis|intraflagellar retrograde transport						0				BRCA - Breast invasive adenocarcinoma(234;0.0199)														---	---	---	---	capture		Splice_Site	SNP	76549569	76549569	1811	14	G	A	A	35	35	C14orf179	A	5	2
TRIP11	9321	broad.mit.edu	37	14	92471524	92471524	+	Silent	SNP	A	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92471524A>T	uc001xzy.2	-	11	3584	c.2796T>A	c.(2794-2796)TCT>TCA	p.S932S	TRIP11_uc010auf.1_Silent_p.S668S	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	932	Potential.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)				T	PDGFRB	AML								---	---	---	---	capture		Silent	SNP	92471524	92471524	17105	14	A	T	T	3	3	TRIP11	T	4	4
OTUD7A	161725	broad.mit.edu	37	15	31776570	31776570	+	Missense_Mutation	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:31776570C>A	uc001zfq.2	-	11	1801	c.1708G>T	c.(1708-1710)GGC>TGC	p.G570C	OTUD7A_uc001zfr.2_Missense_Mutation_p.G577C	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	570						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)														---	---	---	---	capture		Missense_Mutation	SNP	31776570	31776570	11731	15	C	A	A	22	22	OTUD7A	A	2	2
RYR3	6263	broad.mit.edu	37	15	33941357	33941357	+	Missense_Mutation	SNP	T	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:33941357T>A	uc001zhi.2	+	31	4133	c.4063T>A	c.(4063-4065)TAC>AAC	p.Y1355N	RYR3_uc010bar.2_Missense_Mutation_p.Y1355N	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1355	4 X approximate repeats.|B30.2/SPRY 3.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)														---	---	---	---	capture		Missense_Mutation	SNP	33941357	33941357	14250	15	T	A	A	57	57	RYR3	A	4	4
COPS2	9318	broad.mit.edu	37	15	49425958	49425958	+	Silent	SNP	T	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49425958T>A	uc001zxf.2	-	9	1024	c.945A>T	c.(943-945)GTA>GTT	p.V315V	COPS2_uc001zxh.2_Silent_p.V322V|COPS2_uc010ufa.1_Silent_p.V251V	NM_004236	NP_004227	P61201	CSN2_HUMAN	COP9 constitutive photomorphogenic homolog	315	PCI.				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			lung(1)	1		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)														---	---	---	---	capture		Silent	SNP	49425958	49425958	3871	15	T	A	A	61	61	COPS2	A	4	4
UNC13C	440279	broad.mit.edu	37	15	54586235	54586235	+	Nonsense_Mutation	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:54586235G>T	uc002ack.2	+	9	3961	c.3961G>T	c.(3961-3963)GGA>TGA	p.G1321*	UNC13C_uc002acl.2_Nonsense_Mutation_p.G151*	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1321					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)														---	---	---	---	capture		Nonsense_Mutation	SNP	54586235	54586235	17544	15	G	T	T	47	47	UNC13C	T	5	2
CCNB2	9133	broad.mit.edu	37	15	59408904	59408904	+	Missense_Mutation	SNP	C	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:59408904C>T	uc002afz.2	+	6	761	c.613C>T	c.(613-615)CGG>TGG	p.R205W	CCNB2_uc010bge.2_Missense_Mutation_p.R124W	NM_004701	NP_004692	O95067	CCNB2_HUMAN	cyclin B2	205					cell cycle checkpoint|cell division|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	centrosome|cytosol|nucleus	protein kinase binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	59408904	59408904	3040	15	C	T	T	23	23	CCNB2	T	1	1
MVP	9961	broad.mit.edu	37	16	29845346	29845346	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:29845346G>A	uc002dui.2	+	5	620	c.536G>A	c.(535-537)CGC>CAC	p.R179H	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc010bzh.1_RNA|MVP_uc010vdz.1_Intron|MVP_uc002duj.2_Missense_Mutation_p.R179H|MVP_uc010vea.1_5'UTR	NM_005115	NP_005106	Q14764	MVP_HUMAN	major vault protein	179	MVP 4.				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			skin(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	29845346	29845346	10390	16	G	A	A	38	38	MVP	A	1	1
ZNF48	197407	broad.mit.edu	37	16	30409275	30409275	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30409275G>A	uc002dya.1	+	2	763	c.704G>A	c.(703-705)CGC>CAC	p.R235H	ZNF48_uc002dxz.1_Missense_Mutation_p.R112H	NM_152652	NP_689865	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	235	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	30409275	30409275	18528	16	G	A	A	38	38	ZNF48	A	1	1
FBXL19	54620	broad.mit.edu	37	16	30939884	30939884	+	Missense_Mutation	SNP	A	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30939884A>T	uc002eab.2	+	6	942	c.784A>T	c.(784-786)AGG>TGG	p.R262W	FBXL19_uc002dzz.1_5'UTR|FBXL19_uc002eaa.1_Intron	NM_001099784	NP_001093254	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	262	Pro-rich.						DNA binding|zinc ion binding			ovary(2)|lung(1)|breast(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	30939884	30939884	5952	16	A	T	T	7	7	FBXL19	T	4	4
PYDC1	260434	broad.mit.edu	37	16	31228292	31228292	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31228292G>A	uc002ebo.2	-	1	107	c.58C>T	c.(58-60)CTC>TTC	p.L20F	TRIM72_uc002ebn.1_Intron	NM_152901	NP_690865	Q8WXC3	PYDC1_HUMAN	pyrin domain containing 1	20	DAPIN.				innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|positive regulation of interleukin-1 beta secretion|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex|nucleus	cysteine-type endopeptidase activity|protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	31228292	31228292	13316	16	G	A	A	34	34	PYDC1	A	2	2
FTO	79068	broad.mit.edu	37	16	53907755	53907755	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:53907755G>T	uc002ehr.2	+	5	1175	c.953G>T	c.(952-954)AGT>ATT	p.S318I	FTO_uc010vha.1_Missense_Mutation_p.S22I	NM_001080432	NP_001073901	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	318	Alpha-ketoglutarate binding.|Fe2OG dioxygenase domain.				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0																		---	---	---	---	capture		Missense_Mutation	SNP	53907755	53907755	6337	16	G	T	T	36	36	FTO	T	2	2
GPR97	222487	broad.mit.edu	37	16	57713122	57713122	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57713122G>T	uc002emh.2	+	5	629	c.526G>T	c.(526-528)GTG>TTG	p.V176L	GPR97_uc010vhv.1_Missense_Mutation_p.V56L|GPR97_uc010cdd.2_RNA|GPR97_uc010cde.2_5'Flank	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97 precursor	176	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	57713122	57713122	6996	16	G	T	T	40	40	GPR97	T	1	1
CCDC113	29070	broad.mit.edu	37	16	58287931	58287931	+	Silent	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58287931G>T	uc002ene.2	+	3	337	c.258G>T	c.(256-258)CGG>CGT	p.R86R	CCDC113_uc010vid.1_Intron	NM_014157	NP_054876	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113 isoform 1	86						protein complex					0																		---	---	---	---	capture		Silent	SNP	58287931	58287931	2870	16	G	T	T	41	41	CCDC113	T	2	2
PKD1L2	114780	broad.mit.edu	37	16	81214831	81214831	+	Silent	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81214831C>A	uc002fgh.1	-	12	2043	c.2043G>T	c.(2041-2043)CTG>CTT	p.L681L	PKD1L2_uc002fgg.1_RNA|PKD1L2_uc002fgi.2_5'UTR|PKD1L2_uc002fgj.2_Silent_p.L681L|PKD1L2_uc002fgl.1_5'UTR	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	681	REJ.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3																		---	---	---	---	capture		Silent	SNP	81214831	81214831	12389	16	C	A	A	25	25	PKD1L2	A	2	2
PELP1	27043	broad.mit.edu	37	17	4575276	4575276	+	Missense_Mutation	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4575276C>A	uc002fyi.3	-	16	3236	c.3010G>T	c.(3010-3012)GGG>TGG	p.G1004W	PELP1_uc010vsf.1_Intron	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	proline, glutamic acid and leucine rich protein	1004	Glu-rich.|Pro-rich.				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	4575276	4575276	12146	17	C	A	A	23	23	PELP1	A	1	1
MYH1	4619	broad.mit.edu	37	17	10415213	10415213	+	Missense_Mutation	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10415213C>A	uc002gmo.2	-	14	1453	c.1359G>T	c.(1357-1359)AAG>AAT	p.K453N	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	453	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21																		---	---	---	---	capture		Missense_Mutation	SNP	10415213	10415213	10424	17	C	A	A	28	28	MYH1	A	2	2
FLCN	201163	broad.mit.edu	37	17	17131272	17131272	+	Silent	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:17131272C>A	uc002gra.3	-	4	684	c.180G>T	c.(178-180)GCG>GCT	p.A60A	PLD6_uc010cpn.2_Intron|FLCN_uc002grb.3_Silent_p.A60A|FLCN_uc002grc.2_Silent_p.A60A	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN	folliculin isoform 1	60					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	3														Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer				---	---	---	---	capture		Silent	SNP	17131272	17131272	6159	17	C	A	A	27	27	FLCN	A	1	1
COPS3	8533	broad.mit.edu	37	17	17179477	17179477	+	Silent	SNP	C	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:17179477C>T	uc002grd.2	-	2	148	c.57G>A	c.(55-57)GGG>GGA	p.G19G	COPS3_uc010vwv.1_5'UTR|COPS3_uc010vww.1_5'UTR	NM_003653	NP_003644	Q9UNS2	CSN3_HUMAN	COP9 constitutive photomorphogenic homolog	19					cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding			skin(1)	1																		---	---	---	---	capture		Silent	SNP	17179477	17179477	3872	17	C	T	T	26	26	COPS3	T	2	2
ERBB2	2064	broad.mit.edu	37	17	37883558	37883558	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37883558G>T	uc002hso.2	+	26	3408	c.3170G>T	c.(3169-3171)GGG>GTG	p.G1057V	ERBB2_uc002hsm.2_Missense_Mutation_p.G1027V|ERBB2_uc010cwa.2_Missense_Mutation_p.G1042V|ERBB2_uc002hsp.2_Missense_Mutation_p.G860V|ERBB2_uc010cwb.2_Intron|ERBB2_uc010wek.1_Missense_Mutation_p.G781V	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	1057	Cytoplasmic (Potential).				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			---	---	---	---	capture		Missense_Mutation	SNP	37883558	37883558	5399	17	G	T	T	43	43	ERBB2	T	2	2
PRR11	55771	broad.mit.edu	37	17	57272786	57272786	+	Missense_Mutation	SNP	G	T	T	rs563868	byFrequency;by1000genomes	TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57272786G>T	uc002ixf.1	+	7	918	c.839G>T	c.(838-840)CGA>CTA	p.R280L	PRR11_uc002ixg.1_RNA	NM_018304	NP_060774	Q96HE9	PRR11_HUMAN	proline rich 11	280										ovary(2)	2	Medulloblastoma(34;0.0922)|all_neural(34;0.101)																	---	---	---	---	capture		Missense_Mutation	SNP	57272786	57272786	13026	17	G	T	T	37	37	PRR11	T	1	1
HEATR6	63897	broad.mit.edu	37	17	58126990	58126990	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:58126990G>T	uc002iyk.1	-	16	2515	c.2498C>A	c.(2497-2499)GCA>GAA	p.A833E	HEATR6_uc010ddk.1_Missense_Mutation_p.A372E|HEATR6_uc010wos.1_Missense_Mutation_p.A553E	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	833							binding			ovary(1)|skin(1)	2	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)															---	---	---	---	capture		Missense_Mutation	SNP	58126990	58126990	7316	17	G	T	T	46	46	HEATR6	T	2	2
APOH	350	broad.mit.edu	37	17	64210612	64210612	+	Missense_Mutation	SNP	T	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:64210612T>A	uc002jfn.3	-	7	1000	c.941A>T	c.(940-942)CAG>CTG	p.Q314L		NM_000042	NP_000033	P02749	APOH_HUMAN	apolipoprotein H precursor	314	Sushi-like.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding				0			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)															---	---	---	---	capture		Missense_Mutation	SNP	64210612	64210612	815	17	T	A	A	55	55	APOH	A	4	4
COLEC12	81035	broad.mit.edu	37	18	335123	335123	+	Missense_Mutation	SNP	C	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:335123C>T	uc002kkm.2	-	6	1650	c.1435G>A	c.(1435-1437)GGC>AGC	p.G479S		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	479	Collagen-like 2.|Extracellular (Potential).				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			ovary(1)|pancreas(1)	2		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)																---	---	---	---	capture		Missense_Mutation	SNP	335123	335123	3850	18	C	T	T	21	21	COLEC12	T	2	2
LAMA1	284217	broad.mit.edu	37	18	7049209	7049209	+	Silent	SNP	T	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:7049209T>A	uc002knm.2	-	5	730	c.636A>T	c.(634-636)TCA>TCT	p.S212S	LAMA1_uc010wzj.1_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	212	Laminin N-terminal.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---	capture		Silent	SNP	7049209	7049209	8928	18	T	A	A	59	59	LAMA1	A	4	4
PPP4R1	9989	broad.mit.edu	37	18	9570624	9570624	+	Silent	SNP	T	C	C			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:9570624T>C	uc002koe.1	-	11	1222	c.1104A>G	c.(1102-1104)TCA>TCG	p.S368S	PPP4R1_uc002kof.2_5'UTR|PPP4R1_uc010wzo.1_Silent_p.S214S|PPP4R1_uc002kod.1_Silent_p.S351S|PPP4R1_uc010wzp.1_RNA	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	368					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			skin(1)	1																		---	---	---	---	capture		Silent	SNP	9570624	9570624	12839	18	T	C	C	55	55	PPP4R1	C	4	4
CABYR	26256	broad.mit.edu	37	18	21736470	21736470	+	Missense_Mutation	SNP	A	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:21736470A>T	uc002kux.2	+	4	1157	c.1005A>T	c.(1003-1005)GAA>GAT	p.E335D	CABYR_uc010xbb.1_Missense_Mutation_p.E237D|CABYR_uc002kuy.2_Intron|CABYR_uc002kuz.2_Intron|CABYR_uc002kva.2_Missense_Mutation_p.E317D|CABYR_uc002kvb.2_Intron|CABYR_uc002kvc.2_Intron|CABYR_uc010dlw.2_RNA	NM_012189	NP_036321	O75952	CABYR_HUMAN	calcium-binding tyrosine	335					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding				0	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)																	---	---	---	---	capture		Missense_Mutation	SNP	21736470	21736470	2652	18	A	T	T	1	1	CABYR	T	4	4
ATP8B3	148229	broad.mit.edu	37	19	1800301	1800301	+	Missense_Mutation	SNP	G	C	C			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1800301G>C	uc002ltw.2	-	13	1534	c.1300C>G	c.(1300-1302)CTC>GTC	p.L434V	ATP8B3_uc002ltv.2_Missense_Mutation_p.L387V|ATP8B3_uc002ltx.2_RNA|ATP8B3_uc002lty.1_Missense_Mutation_p.L182V|ATP8B3_uc002ltz.1_Missense_Mutation_p.L381V	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	434	Helical; (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---	capture		Missense_Mutation	SNP	1800301	1800301	1215	19	G	C	C	35	35	ATP8B3	C	3	3
CD209	30835	broad.mit.edu	37	19	7810680	7810680	+	Missense_Mutation	SNP	C	G	G			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7810680C>G	uc002mht.2	-	4	539	c.472G>C	c.(472-474)GGT>CGT	p.G158R	CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Missense_Mutation_p.G134R|CD209_uc002mhr.2_Missense_Mutation_p.G134R|CD209_uc002mhs.2_Missense_Mutation_p.G134R|CD209_uc002mhu.2_Missense_Mutation_p.E158Q|CD209_uc010dvq.2_Missense_Mutation_p.G158R|CD209_uc002mhq.2_Missense_Mutation_p.G158R|CD209_uc002mhv.2_Missense_Mutation_p.G134R|CD209_uc002mhx.2_Missense_Mutation_p.G114R|CD209_uc002mhw.2_Missense_Mutation_p.E114Q|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	CD209 molecule isoform 1	158	Extracellular (Probable).|7 X approximate tandem repeats.|3.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	7810680	7810680	3111	19	C	G	G	22	22	CD209	G	3	3
LASS4	79603	broad.mit.edu	37	19	8319436	8319436	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8319436G>T	uc002mjg.2	+	4	547	c.227G>T	c.(226-228)AGG>ATG	p.R76M	LASS4_uc002mjh.2_Missense_Mutation_p.R25M|LASS4_uc002mji.2_Translation_Start_Site|LASS4_uc010dvz.2_Missense_Mutation_p.R76M	NM_024552	NP_078828	Q9HA82	CERS4_HUMAN	LAG1 homolog, ceramide synthase 4	76	Homeobox.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	8319436	8319436	8964	19	G	T	T	35	35	LASS4	T	2	2
ZNF560	147741	broad.mit.edu	37	19	9578620	9578620	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9578620G>A	uc002mlp.1	-	10	1213	c.1003C>T	c.(1003-1005)CAT>TAT	p.H335Y	ZNF560_uc010dwr.1_Missense_Mutation_p.H229Y	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	zinc finger protein 560	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	9578620	9578620	18586	19	G	A	A	47	47	ZNF560	A	2	2
MED26	9441	broad.mit.edu	37	19	16687644	16687644	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16687644G>A	uc002nen.1	-	3	1258	c.997C>T	c.(997-999)CCC>TCC	p.P333S	MED26_uc002nee.2_RNA	NM_004831	NP_004822	O95402	MED26_HUMAN	mediator complex subunit 26	333					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	16687644	16687644	9833	19	G	A	A	42	42	MED26	A	2	2
NCAN	1463	broad.mit.edu	37	19	19335983	19335983	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19335983G>T	uc002nlz.2	+	6	1075	c.976G>T	c.(976-978)GGG>TGG	p.G326W	NCAN_uc010ecc.1_5'Flank	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	326	Link 2.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)															---	---	---	---	capture		Missense_Mutation	SNP	19335983	19335983	10603	19	G	T	T	39	39	NCAN	T	1	1
ZNF676	163223	broad.mit.edu	37	19	22363549	22363549	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22363549G>A	uc002nqs.1	-	3	1288	c.970C>T	c.(970-972)CTT>TTT	p.L324F		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	324	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)																---	---	---	---	capture		Missense_Mutation	SNP	22363549	22363549	18678	19	G	A	A	35	35	ZNF676	A	2	2
ZNF91	7644	broad.mit.edu	37	19	23542727	23542727	+	Silent	SNP	T	C	C			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:23542727T>C	uc002nre.2	-	4	3167	c.3054A>G	c.(3052-3054)GGA>GGG	p.G1018G	ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Silent_p.G986G	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	1018						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)																---	---	---	---	capture		Silent	SNP	23542727	23542727	18804	19	T	C	C	54	54	ZNF91	C	4	4
LSM14A	26065	broad.mit.edu	37	19	34699941	34699941	+	Missense_Mutation	SNP	A	G	G			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:34699941A>G	uc002nvb.3	+	4	719	c.523A>G	c.(523-525)ACA>GCA	p.T175A	LSM14A_uc002nva.3_Missense_Mutation_p.T175A|LSM14A_uc010xru.1_Intron|LSM14A_uc002nvc.3_5'UTR	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN	LSM14 homolog A isoform a	175					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				skin(1)	1	Esophageal squamous(110;0.162)																	---	---	---	---	capture		Missense_Mutation	SNP	34699941	34699941	9430	19	A	G	G	2	2	LSM14A	G	4	4
C19orf55	148137	broad.mit.edu	37	19	36259086	36259086	+	Missense_Mutation	SNP	C	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36259086C>T	uc002obq.1	+	10	1323	c.1250C>T	c.(1249-1251)TCC>TTC	p.S417F		NM_001039887	NP_001034976	Q2NL68	CS055_HUMAN	hypothetical protein LOC148137	Error:Variant_position_missing_in_Q2NL68_after_alignment										ovary(1)	1	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)															---	---	---	---	capture		Missense_Mutation	SNP	36259086	36259086	2001	19	C	T	T	30	30	C19orf55	T	2	2
ZNF382	84911	broad.mit.edu	37	19	37117851	37117851	+	Missense_Mutation	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37117851C>A	uc002oek.2	+	5	1165	c.1052C>A	c.(1051-1053)CCC>CAC	p.P351H	ZNF382_uc010efa.2_Missense_Mutation_p.P302H|ZNF382_uc010efb.2_Missense_Mutation_p.P350H|ZNF382_uc002oel.2_Missense_Mutation_p.P350H	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	zinc finger protein 382	351	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)															---	---	---	---	capture		Missense_Mutation	SNP	37117851	37117851	18465	19	C	A	A	22	22	ZNF382	A	2	2
RYR1	6261	broad.mit.edu	37	19	38959614	38959614	+	Silent	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38959614C>A	uc002oit.2	+	26	3520	c.3390C>A	c.(3388-3390)CGC>CGA	p.R1130R	RYR1_uc002oiu.2_Silent_p.R1130R	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1130	6 X approximate repeats.|Cytoplasmic.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)													---	---	---	---	capture		Silent	SNP	38959614	38959614	14248	19	C	A	A	28	28	RYR1	A	2	2
ACTN4	81	broad.mit.edu	37	19	39207810	39207810	+	Nonsense_Mutation	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39207810G>T	uc002oja.1	+	10	1056	c.997G>T	c.(997-999)GAG>TAG	p.E333*	ACTN4_uc010egc.1_Nonsense_Mutation_p.E333*	NM_004924	NP_004915	O43707	ACTN4_HUMAN	actinin, alpha 4	333	Spectrin 1.				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity				0	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)															---	---	---	---	capture		Nonsense_Mutation	SNP	39207810	39207810	208	19	G	T	T	41	41	ACTN4	T	5	2
ARHGEF1	9138	broad.mit.edu	37	19	42399546	42399546	+	Silent	SNP	A	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42399546A>T	uc002orx.2	+	12	1111	c.1002A>T	c.(1000-1002)CCA>CCT	p.P334P	ARHGEF1_uc002orw.1_Silent_p.P334P|ARHGEF1_uc002ory.2_Silent_p.P301P|ARHGEF1_uc002orz.2_Silent_p.P172P|ARHGEF1_uc002osa.2_Silent_p.P349P|ARHGEF1_uc002osb.2_Silent_p.P316P|ARHGEF1_uc002osc.2_Silent_p.P28P|ARHGEF1_uc002osd.2_5'Flank	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	334					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)														---	---	---	---	capture		Silent	SNP	42399546	42399546	907	19	A	T	T	7	7	ARHGEF1	T	4	4
BCAM	4059	broad.mit.edu	37	19	45322052	45322052	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45322052G>T	uc002ozu.2	+	10	1293	c.1249G>T	c.(1249-1251)GAT>TAT	p.D417Y	BCAM_uc002ozt.1_Missense_Mutation_p.D417Y	NM_005581	NP_005572	P50895	BCAM_HUMAN	basal cell adhesion molecule isoform 1	417	Extracellular (Potential).|Ig-like C2-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			skin(1)	1	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)																---	---	---	---	capture		Missense_Mutation	SNP	45322052	45322052	1365	19	G	T	T	37	37	BCAM	T	1	1
GPR77	27202	broad.mit.edu	37	19	47844851	47844851	+	Silent	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:47844851C>A	uc010ela.1	+	2	1013	c.795C>A	c.(793-795)CTC>CTA	p.L265L	GPR77_uc002pgk.1_Silent_p.L265L	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN	G protein-coupled receptor 77	265	Extracellular (Potential).				chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity			ovary(1)	1		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)														---	---	---	---	capture		Silent	SNP	47844851	47844851	6984	19	C	A	A	30	30	GPR77	A	2	2
CD37	951	broad.mit.edu	37	19	49840422	49840422	+	Missense_Mutation	SNP	C	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49840422C>T	uc002pnd.2	+	4	407	c.286C>T	c.(286-288)CTC>TTC	p.L96F	uc002pnb.1_Intron|CD37_uc002pnc.2_RNA|CD37_uc010yam.1_Missense_Mutation_p.L96F|CD37_uc010yan.1_Missense_Mutation_p.L28F|CD37_uc002pnf.3_Missense_Mutation_p.L68F|CD37_uc002pne.2_Missense_Mutation_p.L28F	NM_001774	NP_001765	P11049	CD37_HUMAN	CD37 antigen isoform A	96	Helical; (Potential).					integral to membrane					0		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)														---	---	---	---	capture		Missense_Mutation	SNP	49840422	49840422	3136	19	C	T	T	28	28	CD37	T	2	2
ZNF610	162963	broad.mit.edu	37	19	52857617	52857617	+	Missense_Mutation	SNP	A	G	G			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52857617A>G	uc002pyx.3	+	5	710	c.304A>G	c.(304-306)AGA>GGA	p.R102G	ZNF610_uc002pyy.3_Missense_Mutation_p.R102G|ZNF610_uc002pyz.3_Intron|ZNF610_uc002pza.2_Missense_Mutation_p.R102G	NM_001161426	NP_001154898	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610 isoform a	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)														---	---	---	---	capture		Missense_Mutation	SNP	52857617	52857617	18631	19	A	G	G	7	7	ZNF610	G	4	4
NLRP5	126206	broad.mit.edu	37	19	56538872	56538872	+	Missense_Mutation	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56538872C>A	uc002qmj.2	+	7	1273	c.1273C>A	c.(1273-1275)CGT>AGT	p.R425S	NLRP5_uc002qmi.2_Missense_Mutation_p.R406S	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	425	NACHT.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)														---	---	---	---	capture		Missense_Mutation	SNP	56538872	56538872	10883	19	C	A	A	23	23	NLRP5	A	1	1
XDH	7498	broad.mit.edu	37	2	31572970	31572970	+	Silent	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:31572970C>A	uc002rnv.1	-	25	2830	c.2751G>T	c.(2749-2751)GGG>GGT	p.G917G		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	917					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)													---	---	---	---	capture		Silent	SNP	31572970	31572970	18007	2	C	A	A	26	26	XDH	A	2	2
FSHR	2492	broad.mit.edu	37	2	49190309	49190309	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:49190309G>A	uc002rww.2	-	10	1725	c.1651C>T	c.(1651-1653)CAC>TAC	p.H551Y	FSHR_uc002rwx.2_Missense_Mutation_p.H489Y|FSHR_uc010fbn.2_Missense_Mutation_p.H525Y	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	551	Cytoplasmic (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)									Gonadal_Dysgenesis_46_XX				---	---	---	---	capture		Missense_Mutation	SNP	49190309	49190309	6324	2	G	A	A	47	47	FSHR	A	2	2
CYP26B1	56603	broad.mit.edu	37	2	72360206	72360206	+	Silent	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:72360206C>A	uc002sih.1	-	5	1092	c.1092G>T	c.(1090-1092)CTG>CTT	p.L364L	CYP26B1_uc010yra.1_Silent_p.L347L|CYP26B1_uc010yrb.1_Silent_p.L289L	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily b,	364					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			skin(2)	2																		---	---	---	---	capture		Silent	SNP	72360206	72360206	4321	2	C	A	A	17	17	CYP26B1	A	2	2
GCC2	9648	broad.mit.edu	37	2	109087168	109087168	+	Silent	SNP	T	C	C			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:109087168T>C	uc002tec.2	+	6	1537	c.1383T>C	c.(1381-1383)GGT>GGC	p.G461G	GCC2_uc002ted.2_Silent_p.G360G	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2	461	Potential.				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	109087168	109087168	6552	2	T	C	C	58	58	GCC2	C	4	4
LRP1B	53353	broad.mit.edu	37	2	141232773	141232773	+	Missense_Mutation	SNP	T	C	C			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:141232773T>C	uc002tvj.1	-	60	10531	c.9559A>G	c.(9559-9561)AGA>GGA	p.R3187G		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3187	Extracellular (Potential).|LDL-receptor class B 31.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)											TSP Lung(27;0.18)			---	---	---	---	capture		Missense_Mutation	SNP	141232773	141232773	9328	2	T	C	C	53	53	LRP1B	C	4	4
LRP1B	53353	broad.mit.edu	37	2	141473550	141473550	+	Silent	SNP	T	A	A	rs148114444		TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:141473550T>A	uc002tvj.1	-	37	6987	c.6015A>T	c.(6013-6015)CCA>CCT	p.P2005P		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2005	Extracellular (Potential).|LDL-receptor class B 20.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)											TSP Lung(27;0.18)			---	---	---	---	capture		Silent	SNP	141473550	141473550	9328	2	T	A	A	55	55	LRP1B	A	4	4
LRP2	4036	broad.mit.edu	37	2	170013975	170013975	+	Silent	SNP	G	A	A	rs143815721		TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170013975G>A	uc002ues.2	-	64	12138	c.11925C>T	c.(11923-11925)TGC>TGT	p.C3975C		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3975	EGF-like 14.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)													---	---	---	---	capture		Silent	SNP	170013975	170013975	9329	2	G	A	A	38	38	LRP2	A	1	1
PGAP1	80055	broad.mit.edu	37	2	197777635	197777635	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197777635G>A	uc002utw.2	-	4	734	c.620C>T	c.(619-621)CCT>CTT	p.P207L	PGAP1_uc002utx.2_Missense_Mutation_p.P33L|PGAP1_uc002uty.1_Missense_Mutation_p.P207L|PGAP1_uc010zgv.1_RNA|PGAP1_uc010fsj.2_Missense_Mutation_p.P33L	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	GPI deacylase	207	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			ovary(3)|central_nervous_system(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	197777635	197777635	12200	2	G	A	A	35	35	PGAP1	A	2	2
PTPRN	5798	broad.mit.edu	37	2	220167078	220167078	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220167078G>A	uc002vkz.2	-	6	864	c.775C>T	c.(775-777)CAC>TAC	p.H259Y	PTPRN_uc010zlc.1_Missense_Mutation_p.H169Y|PTPRN_uc002vla.2_Missense_Mutation_p.H259Y	NM_002846	NP_002837	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	259	Extracellular (Potential).				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.H259Y(1)		ovary(2)|lung(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)														---	---	---	---	capture		Missense_Mutation	SNP	220167078	220167078	13264	2	G	A	A	47	47	PTPRN	A	2	2
GPR55	9290	broad.mit.edu	37	2	231775189	231775189	+	Silent	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:231775189C>A	uc002vrg.2	-	2	682	c.489G>T	c.(487-489)GTG>GTT	p.V163V	GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Silent_p.V163V	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	163	Extracellular (Potential).				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)														---	---	---	---	capture		Silent	SNP	231775189	231775189	6974	2	C	A	A	21	21	GPR55	A	2	2
AQP12A	375318	broad.mit.edu	37	2	241631698	241631698	+	Missense_Mutation	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:241631698C>A	uc002vzu.2	+	2	400	c.331C>A	c.(331-333)CAG>AAG	p.Q111K	AQP12A_uc002vzv.2_RNA	NM_198998	NP_945349	Q8IXF9	AQ12A_HUMAN	aquaporin 12A	111	Helical; Name=3; (Potential).					integral to membrane	transporter activity				0		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)														---	---	---	---	capture		Missense_Mutation	SNP	241631698	241631698	835	2	C	A	A	25	25	AQP12A	A	2	2
C20orf141	128653	broad.mit.edu	37	20	2796209	2796209	+	Missense_Mutation	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2796209C>A	uc010gat.2	+	3	369	c.286C>A	c.(286-288)CGC>AGC	p.R96S	C20orf141_uc002wgv.1_Intron|C20orf141_uc002wgw.2_Missense_Mutation_p.R96S|uc002wgx.1_5'Flank|uc002wgy.1_5'Flank	NM_080739	NP_542777	Q9NUB4	CT141_HUMAN	hypothetical protein LOC128653	96	Leu-rich.					integral to membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	2796209	2796209	2166	20	C	A	A	27	27	C20orf141	A	1	1
BFSP1	631	broad.mit.edu	37	20	17489538	17489538	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:17489538G>T	uc002wpo.2	-	5	770	c.731C>A	c.(730-732)GCA>GAA	p.A244E	BFSP1_uc002wpp.2_Missense_Mutation_p.A119E|BFSP1_uc010zrn.1_Missense_Mutation_p.A105E|BFSP1_uc010zro.1_Missense_Mutation_p.A105E	NM_001195	NP_001186	Q12934	BFSP1_HUMAN	filensin isoform 1	244	Rod.|Coil 2.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	17489538	17489538	1439	20	G	T	T	46	46	BFSP1	T	2	2
ZMYND8	23613	broad.mit.edu	37	20	45865220	45865220	+	Silent	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:45865220G>T	uc002xta.1	-	16	2900	c.2646C>A	c.(2644-2646)TCC>TCA	p.S882S	ZMYND8_uc010ghq.1_Silent_p.S513S|ZMYND8_uc010ghr.1_Silent_p.S811S|ZMYND8_uc002xst.1_Silent_p.S764S|ZMYND8_uc002xsu.1_Silent_p.S755S|ZMYND8_uc002xsv.1_Silent_p.S810S|ZMYND8_uc002xsw.1_Silent_p.S588S|ZMYND8_uc002xsx.1_Silent_p.S588S|ZMYND8_uc002xsy.1_Silent_p.S811S|ZMYND8_uc002xsz.1_Silent_p.S773S|ZMYND8_uc010zxy.1_Silent_p.S909S|ZMYND8_uc002xtb.1_Silent_p.S856S|ZMYND8_uc002xss.2_Silent_p.S882S|ZMYND8_uc010zxz.1_Silent_p.S750S|ZMYND8_uc002xtc.1_Silent_p.S856S|ZMYND8_uc002xtd.1_Silent_p.S831S|ZMYND8_uc002xte.1_Silent_p.S836S|ZMYND8_uc010zya.1_Silent_p.S882S|ZMYND8_uc002xtf.1_Silent_p.S902S|ZMYND8_uc002xsr.1_5'UTR	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	882							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)															---	---	---	---	capture		Silent	SNP	45865220	45865220	18302	20	G	T	T	47	47	ZMYND8	T	2	2
ZMYND8	23613	broad.mit.edu	37	20	45905064	45905064	+	Missense_Mutation	SNP	T	C	C			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:45905064T>C	uc002xta.1	-	11	1668	c.1414A>G	c.(1414-1416)AGC>GGC	p.S472G	ZMYND8_uc010ghq.1_Missense_Mutation_p.S149G|ZMYND8_uc010ghr.1_Missense_Mutation_p.S447G|ZMYND8_uc002xst.1_Missense_Mutation_p.S447G|ZMYND8_uc002xsu.1_Missense_Mutation_p.S472G|ZMYND8_uc002xsv.1_Missense_Mutation_p.S447G|ZMYND8_uc002xsw.1_Missense_Mutation_p.S224G|ZMYND8_uc002xsx.1_Missense_Mutation_p.S224G|ZMYND8_uc002xsy.1_Missense_Mutation_p.S447G|ZMYND8_uc002xsz.1_Missense_Mutation_p.S409G|ZMYND8_uc010zxy.1_Missense_Mutation_p.S499G|ZMYND8_uc002xtb.1_Missense_Mutation_p.S492G|ZMYND8_uc002xss.2_Missense_Mutation_p.S472G|ZMYND8_uc010zxz.1_Missense_Mutation_p.S467G|ZMYND8_uc002xtc.1_Missense_Mutation_p.S492G|ZMYND8_uc002xtd.1_Missense_Mutation_p.S467G|ZMYND8_uc002xte.1_Missense_Mutation_p.S472G|ZMYND8_uc010zya.1_Missense_Mutation_p.S472G|ZMYND8_uc002xtf.1_Missense_Mutation_p.S492G|ZMYND8_uc002xtg.2_Missense_Mutation_p.S466G|ZMYND8_uc010ghs.1_Missense_Mutation_p.S466G	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8 isoform b	472							protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)															---	---	---	---	capture		Missense_Mutation	SNP	45905064	45905064	18302	20	T	C	C	54	54	ZMYND8	C	4	4
NFATC2	4773	broad.mit.edu	37	20	50049292	50049292	+	Silent	SNP	G	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:50049292G>A	uc002xwd.2	-	9	2254	c.2034C>T	c.(2032-2034)GTC>GTT	p.V678V	NFATC2_uc002xwc.2_Silent_p.V678V|NFATC2_uc010zyv.1_Silent_p.V459V|NFATC2_uc010zyw.1_Silent_p.V459V|NFATC2_uc010zyx.1_Silent_p.V658V|NFATC2_uc010zyy.1_Silent_p.V459V|NFATC2_uc010zyz.1_Silent_p.V459V|NFATC2_uc002xwe.2_Silent_p.V658V	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	678					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Hepatocellular(150;0.248)																	---	---	---	---	capture		Silent	SNP	50049292	50049292	10762	20	G	A	A	41	41	NFATC2	A	2	2
SLCO4A1	28231	broad.mit.edu	37	20	61288044	61288044	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61288044G>A	uc002ydb.1	+	2	443	c.238G>A	c.(238-240)GCC>ACC	p.A80T	SLCO4A1_uc002ydc.1_RNA	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family	80	Cytoplasmic (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(1)	1	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)															---	---	---	---	capture		Missense_Mutation	SNP	61288044	61288044	15226	20	G	A	A	42	42	SLCO4A1	A	2	2
EEF1A2	1917	broad.mit.edu	37	20	62120282	62120282	+	Missense_Mutation	SNP	T	G	G			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62120282T>G	uc002yfd.1	-	6	1354	c.1253A>C	c.(1252-1254)TAC>TCC	p.Y418S	EEF1A2_uc002yfe.1_Missense_Mutation_p.Y418S|EEF1A2_uc010gkg.1_Intron	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha	418						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)															---	---	---	---	capture		Missense_Mutation	SNP	62120282	62120282	5111	20	T	G	G	57	57	EEF1A2	G	4	4
PRIC285	85441	broad.mit.edu	37	20	62200693	62200693	+	Missense_Mutation	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62200693C>A	uc002yfm.2	-	5	1788	c.896G>T	c.(895-897)CGC>CTC	p.R299L	PRIC285_uc002yfl.1_5'Flank	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	PPAR-alpha interacting complex protein 285	299					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)															---	---	---	---	capture		Missense_Mutation	SNP	62200693	62200693	12928	20	C	A	A	27	27	PRIC285	A	1	1
TIAM1	7074	broad.mit.edu	37	21	32496948	32496948	+	Missense_Mutation	SNP	T	C	C			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:32496948T>C	uc002yow.1	-	28	4670	c.4198A>G	c.(4198-4200)AGA>GGA	p.R1400G	TIAM1_uc011adk.1_Missense_Mutation_p.R1400G|TIAM1_uc011adl.1_Missense_Mutation_p.R1340G	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1400					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10																		---	---	---	---	capture		Missense_Mutation	SNP	32496948	32496948	16418	21	T	C	C	56	56	TIAM1	C	4	4
COL6A1	1291	broad.mit.edu	37	21	47418320	47418320	+	Silent	SNP	G	T	T	rs139243418	byFrequency	TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47418320G>T	uc002zhu.1	+	24	1686	c.1584G>T	c.(1582-1584)CCG>CCT	p.P528P	COL6A1_uc010gqd.1_5'UTR|COL6A1_uc002zhv.1_5'Flank	NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	528	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)													---	---	---	---	capture		Silent	SNP	47418320	47418320	3837	21	G	T	T	39	39	COL6A1	T	1	1
ADORA2A	135	broad.mit.edu	37	22	24837043	24837043	+	Silent	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:24837043C>A	uc002zzx.2	+	5	1588	c.825C>A	c.(823-825)GTC>GTA	p.V275V	ADORA2A_uc002zzy.3_Silent_p.V275V|ADORA2A_uc011ajs.1_Silent_p.V136V|ADORA2A_uc010gup.2_Silent_p.V275V|ADORA2A_uc010guq.2_Silent_p.V275V|ADORA2A_uc003aab.2_Silent_p.V275V|ADORA2A_uc003aac.2_Silent_p.V136V|C22orf45_uc003aad.1_Intron	NM_000675	NP_000666	P29274	AA2AR_HUMAN	adenosine A2a receptor	275	Helical; Name=7.				apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding				0	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)													---	---	---	---	capture		Silent	SNP	24837043	24837043	328	22	C	A	A	30	30	ADORA2A	A	2	2
CDC42EP1	11135	broad.mit.edu	37	22	37964498	37964498	+	Missense_Mutation	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37964498C>A	uc003asz.3	+	3	1250	c.847C>A	c.(847-849)CAT>AAT	p.H283N		NM_152243	NP_689449	Q00587	BORG5_HUMAN	CDC42 effector protein 1	283					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding				0	Melanoma(58;0.0574)																	---	---	---	---	capture		Missense_Mutation	SNP	37964498	37964498	3203	22	C	A	A	21	21	CDC42EP1	A	2	2
EFCAB6	64800	broad.mit.edu	37	22	43926757	43926757	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:43926757G>T	uc003bdy.1	-	31	4536	c.4321C>A	c.(4321-4323)CGC>AGC	p.R1441S	EFCAB6_uc003bdz.1_Missense_Mutation_p.R1289S|EFCAB6_uc010gzi.1_Missense_Mutation_p.R1289S	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	1441	Interaction with AR.|EF-hand 16.|Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)																---	---	---	---	capture		Missense_Mutation	SNP	43926757	43926757	5126	22	G	T	T	38	38	EFCAB6	T	1	1
CELSR1	9620	broad.mit.edu	37	22	46932037	46932037	+	Missense_Mutation	SNP	T	G	G			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:46932037T>G	uc003bhw.1	-	1	1031	c.1031A>C	c.(1030-1032)AAA>ACA	p.K344T		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	344	Extracellular (Potential).|Cadherin 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)														---	---	---	---	capture		Missense_Mutation	SNP	46932037	46932037	3354	22	T	G	G	64	64	CELSR1	G	4	4
CCR5	1234	broad.mit.edu	37	3	46414528	46414528	+	Silent	SNP	T	C	C			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46414528T>C	uc003cpo.3	+	3	257	c.135T>C	c.(133-135)TTT>TTC	p.F45F	CCR5_uc010hjd.2_Silent_p.F45F	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5	45	Helical; Name=1; (Potential).				cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			lung(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)													---	---	---	---	capture		Silent	SNP	46414528	46414528	3071	3	T	C	C	63	63	CCR5	C	4	4
OR5H14	403273	broad.mit.edu	37	3	97868652	97868652	+	Silent	SNP	C	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97868652C>T	uc003dsg.1	+	1	423	c.423C>T	c.(421-423)TGC>TGT	p.C141C		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H,	141	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1																		---	---	---	---	capture		Silent	SNP	97868652	97868652	11570	3	C	T	T	25	25	OR5H14	T	2	2
DIRC2	84925	broad.mit.edu	37	3	122525799	122525799	+	Splice_Site	SNP	T	C	C			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122525799T>C	uc003efw.3	+	2	576	c.437_splice	c.e2+2	p.R146_splice	DIRC2_uc010hrl.2_Splice_Site|DIRC2_uc010hrm.2_Intron	NM_032839	NP_116228			disrupted in renal carcinoma 2						transport	integral to membrane					0				GBM - Glioblastoma multiforme(114;0.0614)														---	---	---	---	capture		Splice_Site	SNP	122525799	122525799	4713	3	T	C	C	57	57	DIRC2	C	5	4
CEP63	80254	broad.mit.edu	37	3	134251738	134251738	+	Missense_Mutation	SNP	T	C	C	rs145156085	byFrequency	TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:134251738T>C	uc003eqo.1	+	6	886	c.437T>C	c.(436-438)ATA>ACA	p.I146T	CEP63_uc003eql.1_Missense_Mutation_p.I146T|CEP63_uc003eqm.2_Missense_Mutation_p.I146T|CEP63_uc003eqn.1_Missense_Mutation_p.I146T	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	centrosomal protein 63 isoform a	146	Potential.				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	134251738	134251738	3390	3	T	C	C	49	49	CEP63	C	4	4
BCHE	590	broad.mit.edu	37	3	165504057	165504057	+	Silent	SNP	G	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:165504057G>A	uc003fem.3	-	3	1720	c.1560C>T	c.(1558-1560)GTC>GTT	p.V520V	BCHE_uc003fen.3_RNA	NM_000055	NP_000046	P06276	CHLE_HUMAN	butyrylcholinesterase precursor	520					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			ovary(3)|pancreas(1)	4					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)													---	---	---	---	capture		Silent	SNP	165504057	165504057	1379	3	G	A	A	33	33	BCHE	A	2	2
ECT2	1894	broad.mit.edu	37	3	172534584	172534584	+	Missense_Mutation	SNP	A	C	C			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:172534584A>C	uc003fii.2	+	23	2657	c.2519A>C	c.(2518-2520)GAT>GCT	p.D840A	ECT2_uc003fih.2_Missense_Mutation_p.D839A|ECT2_uc003fij.1_Missense_Mutation_p.D840A|ECT2_uc003fik.1_Missense_Mutation_p.D840A|ECT2_uc003fil.1_Missense_Mutation_p.D871A|ECT2_uc003fim.1_Missense_Mutation_p.D139A	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	840					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|ovary(1)|skin(1)	4	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)															---	---	---	---	capture		Missense_Mutation	SNP	172534584	172534584	5088	3	A	C	C	12	12	ECT2	C	4	4
PEX5L	51555	broad.mit.edu	37	3	179754368	179754368	+	Missense_Mutation	SNP	T	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179754368T>A	uc003fki.1	-	1	150	c.20A>T	c.(19-21)CAG>CTG	p.Q7L	PEX5L_uc003fkj.1_Missense_Mutation_p.Q7L|PEX5L_uc010hxd.1_Missense_Mutation_p.Q7L|PEX5L_uc011bqg.1_Missense_Mutation_p.Q7L|PEX5L_uc011bqh.1_Missense_Mutation_p.Q7L	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	7					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			ovary(3)|large_intestine(1)	4	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)															---	---	---	---	capture		Missense_Mutation	SNP	179754368	179754368	12171	3	T	A	A	55	55	PEX5L	A	4	4
ECE2	9718	broad.mit.edu	37	3	183975455	183975455	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183975455G>T	uc003fni.3	+	2	429	c.391G>T	c.(391-393)GGC>TGC	p.G131C	ECE2_uc003fnh.3_Missense_Mutation_p.G131C	NM_014693	NP_055508	O60344	ECE2_HUMAN	endothelin converting enzyme 2 isoform A	131	Cytoplasmic (Potential).|Methyltransferase-like region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			ovary(2)|skin(2)	4	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)															---	---	---	---	capture		Missense_Mutation	SNP	183975455	183975455	5077	3	G	T	T	43	43	ECE2	T	2	2
ZFYVE28	57732	broad.mit.edu	37	4	2306729	2306729	+	Silent	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:2306729C>A	uc003gex.1	-	8	1657	c.1338G>T	c.(1336-1338)GGG>GGT	p.G446G	ZFYVE28_uc011bvk.1_Silent_p.G376G|ZFYVE28_uc011bvl.1_Silent_p.G416G|ZFYVE28_uc003gew.1_Silent_p.G332G	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	446					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			skin(2)|ovary(1)	3																		---	---	---	---	capture		Silent	SNP	2306729	2306729	18260	4	C	A	A	30	30	ZFYVE28	A	2	2
HADH	3033	broad.mit.edu	37	4	108940716	108940716	+	Missense_Mutation	SNP	A	G	G			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:108940716A>G	uc003hyq.2	+	4	589	c.440A>G	c.(439-441)AAC>AGC	p.N147S	HADH_uc010ilx.2_Missense_Mutation_p.N147S|HADH_uc010ily.2_5'UTR|HADH_uc003hyr.2_Missense_Mutation_p.N151S	NM_005327	NP_005318	Q16836	HCDH_HUMAN	L-3-hydroxyacyl-Coenzyme A dehydrogenase	147					fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)													---	---	---	---	capture		Missense_Mutation	SNP	108940716	108940716	7224	4	A	G	G	2	2	HADH	G	4	4
PCDH10	57575	broad.mit.edu	37	4	134073843	134073843	+	Missense_Mutation	SNP	C	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:134073843C>T	uc003iha.2	+	1	3374	c.2548C>T	c.(2548-2550)CAC>TAC	p.H850Y	PCDH10_uc003igz.2_Missense_Mutation_p.H850Y	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	850	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)														---	---	---	---	capture		Missense_Mutation	SNP	134073843	134073843	11927	4	C	T	T	25	25	PCDH10	T	2	2
FGB	2244	broad.mit.edu	37	4	155487721	155487721	+	Missense_Mutation	SNP	G	C	C			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:155487721G>C	uc003ioa.3	+	3	426	c.387G>C	c.(385-387)GAG>GAC	p.E129D	FGB_uc010ipu.1_RNA|FGB_uc003iob.3_Missense_Mutation_p.E126D|FGB_uc010ipv.2_Missense_Mutation_p.E67D|FGB_uc010ipw.2_Missense_Mutation_p.E126D|FGB_uc003ioc.3_Intron	NM_005141	NP_005132	P02675	FIBB_HUMAN	fibrinogen, beta chain preproprotein	129					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)													---	---	---	---	capture		Missense_Mutation	SNP	155487721	155487721	6068	4	G	C	C	36	36	FGB	C	3	3
TKTL2	84076	broad.mit.edu	37	4	164393493	164393493	+	Missense_Mutation	SNP	G	C	C			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:164393493G>C	uc003iqp.3	-	1	1555	c.1394C>G	c.(1393-1395)GCC>GGC	p.A465G		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	465						cytoplasm	metal ion binding|transketolase activity			ovary(2)|skin(2)|pancreas(1)	5	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)																---	---	---	---	capture		Missense_Mutation	SNP	164393493	164393493	16465	4	G	C	C	42	42	TKTL2	C	3	3
NEIL3	55247	broad.mit.edu	37	4	178274865	178274865	+	Missense_Mutation	SNP	C	G	G			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:178274865C>G	uc003iut.2	+	8	1560	c.1443C>G	c.(1441-1443)AAC>AAG	p.N481K	NEIL3_uc010irs.2_3'UTR	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3	481					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)									BER_DNA_glycosylases					---	---	---	---	capture		Missense_Mutation	SNP	178274865	178274865	10719	4	C	G	G	18	18	NEIL3	G	3	3
ODZ3	55714	broad.mit.edu	37	4	183714330	183714330	+	Missense_Mutation	SNP	C	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:183714330C>T	uc003ivd.1	+	25	6542	c.6505C>T	c.(6505-6507)CGT>TGT	p.R2169C		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	2169	Extracellular (Potential).|YD 19.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)														---	---	---	---	capture		Missense_Mutation	SNP	183714330	183714330	11241	4	C	T	T	27	27	ODZ3	T	1	1
MTNR1A	4543	broad.mit.edu	37	4	187455106	187455106	+	Missense_Mutation	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:187455106C>A	uc003izd.1	-	2	808	c.790G>T	c.(790-792)GAC>TAC	p.D264Y		NM_005958	NP_005949	P48039	MTR1A_HUMAN	melatonin receptor 1A	264	Extracellular (Potential).				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			ovary(1)|skin(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)													---	---	---	---	capture		Missense_Mutation	SNP	187455106	187455106	10344	4	C	A	A	29	29	MTNR1A	A	2	2
ADAMTS16	170690	broad.mit.edu	37	5	5146247	5146247	+	Silent	SNP	T	C	C			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:5146247T>C	uc003jdl.2	+	3	318	c.180T>C	c.(178-180)TAT>TAC	p.Y60Y	ADAMTS16_uc003jdk.1_Silent_p.Y60Y|ADAMTS16_uc003jdj.1_Silent_p.Y60Y	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	60					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8																		---	---	---	---	capture		Silent	SNP	5146247	5146247	262	5	T	C	C	51	51	ADAMTS16	C	4	4
CTNND2	1501	broad.mit.edu	37	5	11346508	11346508	+	Missense_Mutation	SNP	A	G	G			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:11346508A>G	uc003jfa.1	-	9	1749	c.1604T>C	c.(1603-1605)ATT>ACT	p.I535T	CTNND2_uc010itt.2_Missense_Mutation_p.I444T|CTNND2_uc011cmy.1_Missense_Mutation_p.I198T|CTNND2_uc011cmz.1_Missense_Mutation_p.I102T|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.I102T	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	535					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8																		---	---	---	---	capture		Missense_Mutation	SNP	11346508	11346508	4179	5	A	G	G	4	4	CTNND2	G	4	4
CDH10	1008	broad.mit.edu	37	5	24492942	24492942	+	Silent	SNP	T	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:24492942T>A	uc003jgr.1	-	10	1940	c.1608A>T	c.(1606-1608)ACA>ACT	p.T536T	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	536	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)											HNSCC(23;0.051)			---	---	---	---	capture		Silent	SNP	24492942	24492942	3225	5	T	A	A	55	55	CDH10	A	4	4
CARD6	84674	broad.mit.edu	37	5	40852400	40852400	+	Silent	SNP	A	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:40852400A>T	uc003jmg.2	+	3	1041	c.966A>T	c.(964-966)CCA>CCT	p.P322P		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	322					apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5																		---	---	---	---	capture		Silent	SNP	40852400	40852400	2769	5	A	T	T	7	7	CARD6	T	4	4
GIN1	54826	broad.mit.edu	37	5	102433118	102433118	+	Missense_Mutation	SNP	T	C	C			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:102433118T>C	uc003koa.1	-	6	990	c.908A>G	c.(907-909)CAT>CGT	p.H303R	GIN1_uc003kob.1_Missense_Mutation_p.H156R|GIN1_uc003koc.1_Intron	NM_017676	NP_060146	Q9NXP7	GIN1_HUMAN	zinc finger, H2C2 domain containing	303					DNA integration		DNA binding			ovary(1)|skin(1)	2		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)														---	---	---	---	capture		Missense_Mutation	SNP	102433118	102433118	6654	5	T	C	C	51	51	GIN1	C	4	4
TRPC7	57113	broad.mit.edu	37	5	135692755	135692755	+	Silent	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:135692755C>A	uc003lbn.1	-	1	321	c.318G>T	c.(316-318)GGG>GGT	p.G106G	TRPC7_uc010jef.1_Silent_p.G98G|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Silent_p.G98G|TRPC7_uc010jei.1_Silent_p.G98G|TRPC7_uc010jej.1_5'UTR	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	107	Cytoplasmic (Potential).				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)															---	---	---	---	capture		Silent	SNP	135692755	135692755	17135	5	C	A	A	22	22	TRPC7	A	2	2
PCDHA3	56145	broad.mit.edu	37	5	140181071	140181071	+	Missense_Mutation	SNP	G	C	C			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140181071G>C	uc003lhf.2	+	1	289	c.289G>C	c.(289-291)GGG>CGG	p.G97R	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.G97R	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	97	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Missense_Mutation	SNP	140181071	140181071	11945	5	G	C	C	39	39	PCDHA3	C	3	3
PCDHB6	56130	broad.mit.edu	37	5	140530850	140530850	+	Missense_Mutation	SNP	G	T	T	rs17844433		TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140530850G>T	uc003lir.2	+	1	1012	c.1012G>T	c.(1012-1014)GTG>TTG	p.V338L	PCDHB6_uc011dah.1_Missense_Mutation_p.V202L	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	338	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---	capture		Missense_Mutation	SNP	140530850	140530850	11966	5	G	T	T	40	40	PCDHB6	T	1	1
PDGFRB	5159	broad.mit.edu	37	5	149502632	149502632	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149502632G>A	uc003lro.2	-	15	2625	c.2156C>T	c.(2155-2157)GCT>GTT	p.A719V	PDGFRB_uc010jhd.2_Missense_Mutation_p.A558V	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	719	Cytoplasmic (Potential).|Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)			T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML								---	---	---	---	capture		Missense_Mutation	SNP	149502632	149502632	12083	5	G	A	A	34	34	PDGFRB	A	2	2
HAVCR2	84868	broad.mit.edu	37	5	156533809	156533809	+	Missense_Mutation	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156533809C>A	uc003lwk.1	-	2	367	c.223G>T	c.(223-225)GTG>TTG	p.V75L	HAVCR2_uc003lwl.2_Missense_Mutation_p.V75L	NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	T cell immunoglobulin mucin 3 precursor	75	Ig-like V-type.|Extracellular (Potential).					integral to membrane					0	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)															---	---	---	---	capture		Missense_Mutation	SNP	156533809	156533809	7256	5	C	A	A	17	17	HAVCR2	A	2	2
GRM6	2916	broad.mit.edu	37	5	178410074	178410074	+	Missense_Mutation	SNP	C	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:178410074C>T	uc003mjr.2	-	9	2452	c.2273G>A	c.(2272-2274)AGC>AAC	p.S758N	GRM6_uc003mjq.2_Missense_Mutation_p.S161N	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	758	Helical; Name=5; (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)														---	---	---	---	capture		Missense_Mutation	SNP	178410074	178410074	7080	5	C	T	T	28	28	GRM6	T	2	2
GRM6	2916	broad.mit.edu	37	5	178410091	178410091	+	Silent	SNP	G	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:178410091G>A	uc003mjr.2	-	9	2435	c.2256C>T	c.(2254-2256)ATC>ATT	p.I752I	GRM6_uc003mjq.2_Silent_p.I155I	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	752	Helical; Name=5; (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)														---	---	---	---	capture		Silent	SNP	178410091	178410091	7080	5	G	A	A	37	37	GRM6	A	1	1
KIF13A	63971	broad.mit.edu	37	6	17764629	17764629	+	Silent	SNP	G	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:17764629G>A	uc003ncg.3	-	39	5235	c.5130C>T	c.(5128-5130)AGC>AGT	p.S1710S	KIF13A_uc003ncf.2_Silent_p.S1662S|KIF13A_uc003nch.3_Silent_p.S1675S|KIF13A_uc003nci.3_Silent_p.S1662S|KIF13A_uc003nce.1_Silent_p.S261S	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	1710					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)															---	---	---	---	capture		Silent	SNP	17764629	17764629	8585	6	G	A	A	42	42	KIF13A	A	2	2
ZNF311	282890	broad.mit.edu	37	6	28962782	28962782	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28962782G>A	uc003nlu.2	-	7	2510	c.1997C>T	c.(1996-1998)GCC>GTC	p.A666V	ZNF311_uc011dlk.1_Missense_Mutation_p.A574V|ZNF311_uc003nlv.2_Missense_Mutation_p.A574V	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	666					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	28962782	28962782	18426	6	G	A	A	42	42	ZNF311	A	2	2
ATF6B	1388	broad.mit.edu	37	6	32084310	32084310	+	Missense_Mutation	SNP	T	C	C			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32084310T>C	uc003nzn.2	-	17	1862	c.1829A>G	c.(1828-1830)AAC>AGC	p.N610S	TNXB_uc010jts.1_Intron|ATF6B_uc003nzm.1_Missense_Mutation_p.N183S|ATF6B_uc003nzo.2_Missense_Mutation_p.N607S	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta isoform	610	Lumenal (Potential).				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	32084310	32084310	1104	6	T	C	C	60	60	ATF6B	C	4	4
PI16	221476	broad.mit.edu	37	6	36922606	36922606	+	Missense_Mutation	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:36922606C>A	uc003ona.2	+	1	398	c.70C>A	c.(70-72)CCC>ACC	p.P24T	PI16_uc003omz.1_Missense_Mutation_p.P24T|PI16_uc003onb.2_Missense_Mutation_p.P24T	NM_153370	NP_699201	Q6UXB8	PI16_HUMAN	protease inhibitor 16 precursor	24						extracellular region|integral to membrane	peptidase inhibitor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	36922606	36922606	12293	6	C	A	A	22	22	PI16	A	2	2
DNAH8	1769	broad.mit.edu	37	6	38754673	38754673	+	Missense_Mutation	SNP	C	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38754673C>T	uc003ooe.1	+	16	2477	c.1877C>T	c.(1876-1878)GCA>GTA	p.A626V		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21																		---	---	---	---	capture		Missense_Mutation	SNP	38754673	38754673	4790	6	C	T	T	25	25	DNAH8	T	2	2
TTBK1	84630	broad.mit.edu	37	6	43230656	43230656	+	Silent	SNP	G	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43230656G>A	uc003ouq.1	+	13	1833	c.1554G>A	c.(1552-1554)GTG>GTA	p.V518V	TTBK1_uc011dvg.1_Silent_p.V41V	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	518						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)															---	---	---	---	capture		Silent	SNP	43230656	43230656	17230	6	G	A	A	47	47	TTBK1	A	2	2
ZNF318	24149	broad.mit.edu	37	6	43304927	43304927	+	Missense_Mutation	SNP	T	C	C			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43304927T>C	uc003oux.2	-	10	6887	c.6809A>G	c.(6808-6810)CAG>CGG	p.Q2270R	ZNF318_uc003ouw.2_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2270					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)															---	---	---	---	capture		Missense_Mutation	SNP	43304927	43304927	18428	6	T	C	C	55	55	ZNF318	C	4	4
CRISP2	7180	broad.mit.edu	37	6	49676880	49676880	+	Silent	SNP	A	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:49676880A>T	uc003ozq.2	-	4	286	c.30T>A	c.(28-30)GTT>GTA	p.V10V	CRISP2_uc003ozl.2_Silent_p.V10V|CRISP2_uc003ozn.2_Silent_p.V10V|CRISP2_uc003ozr.2_Silent_p.V10V|CRISP2_uc003ozo.2_Silent_p.V10V|CRISP2_uc003ozm.2_Silent_p.V10V|CRISP2_uc003ozp.2_Silent_p.V10V	NM_001142408	NP_001135880	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2 precursor	10						extracellular space				skin(1)	1	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)															---	---	---	---	capture		Silent	SNP	49676880	49676880	4019	6	A	T	T	13	13	CRISP2	T	4	4
KLHL31	401265	broad.mit.edu	37	6	53519311	53519311	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:53519311G>T	uc003pcb.3	-	2	901	c.760C>A	c.(760-762)CTT>ATT	p.L254I		NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	kelch repeat and BTB (POZ) domain containing 1	254	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					ovary(1)	1	Lung NSC(77;0.0158)																	---	---	---	---	capture		Missense_Mutation	SNP	53519311	53519311	8698	6	G	T	T	33	33	KLHL31	T	2	2
KHDRBS2	202559	broad.mit.edu	37	6	62407151	62407151	+	Nonsense_Mutation	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:62407151C>A	uc003peg.2	-	8	1148	c.901G>T	c.(901-903)GAA>TAA	p.E301*		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	KH domain-containing, RNA-binding, signal	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			skin(7)|ovary(3)|liver(1)	11				BRCA - Breast invasive adenocarcinoma(397;0.149)														---	---	---	---	capture		Nonsense_Mutation	SNP	62407151	62407151	8453	6	C	A	A	29	29	KHDRBS2	A	5	2
BAI3	577	broad.mit.edu	37	6	70064159	70064159	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:70064159G>T	uc003pev.3	+	27	3942	c.3494G>T	c.(3493-3495)TGT>TTT	p.C1165F	BAI3_uc010kak.2_Missense_Mutation_p.C1165F|BAI3_uc011dxx.1_Missense_Mutation_p.C371F	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1165	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)																---	---	---	---	capture		Missense_Mutation	SNP	70064159	70064159	1321	6	G	T	T	48	48	BAI3	T	2	2
GABRR2	2570	broad.mit.edu	37	6	89974321	89974321	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:89974321G>T	uc003pnb.2	-	8	979	c.971C>A	c.(970-972)ACG>AAG	p.T324K	GABRR2_uc011dzx.1_Missense_Mutation_p.T200K	NM_002043	NP_002034	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 2	324	Helical; (Potential).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity				0		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)														---	---	---	---	capture		Missense_Mutation	SNP	89974321	89974321	6428	6	G	T	T	40	40	GABRR2	T	1	1
MDN1	23195	broad.mit.edu	37	6	90472061	90472061	+	Missense_Mutation	SNP	T	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90472061T>A	uc003pnn.1	-	16	2449	c.2333A>T	c.(2332-2334)AAG>ATG	p.K778M	MDN1_uc003pno.1_Missense_Mutation_p.K196M	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	778					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)														---	---	---	---	capture		Missense_Mutation	SNP	90472061	90472061	9804	6	T	A	A	56	56	MDN1	A	4	4
BACH2	60468	broad.mit.edu	37	6	90660143	90660143	+	Missense_Mutation	SNP	T	C	C			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90660143T>C	uc011eab.1	-	7	2491	c.1682A>G	c.(1681-1683)CAT>CGT	p.H561R	BACH2_uc003pnw.2_Missense_Mutation_p.H561R|BACH2_uc010kch.2_Missense_Mutation_p.H561R	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	561						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)														---	---	---	---	capture		Missense_Mutation	SNP	90660143	90660143	1305	6	T	C	C	51	51	BACH2	C	4	4
RFX6	222546	broad.mit.edu	37	6	117240437	117240437	+	Missense_Mutation	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:117240437C>A	uc003pxm.2	+	11	1223	c.1160C>A	c.(1159-1161)ACA>AAA	p.T387K		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	387					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	117240437	117240437	13739	6	C	A	A	17	17	RFX6	A	2	2
IL20RA	53832	broad.mit.edu	37	6	137325764	137325764	+	Silent	SNP	T	C	C			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:137325764T>C	uc003qhj.2	-	6	1291	c.858A>G	c.(856-858)GCA>GCG	p.A286A	IL20RA_uc011edl.1_Silent_p.A237A|IL20RA_uc003qhk.2_Silent_p.A175A|IL20RA_uc003qhi.2_Silent_p.A18A	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha precursor	286	Cytoplasmic (Potential).					integral to membrane	receptor activity			ovary(2)|skin(2)	4	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)														---	---	---	---	capture		Silent	SNP	137325764	137325764	7969	6	T	C	C	63	63	IL20RA	C	4	4
TIAM2	26230	broad.mit.edu	37	6	155451258	155451258	+	Missense_Mutation	SNP	G	C	C			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:155451258G>C	uc003qqb.2	+	6	2174	c.901G>C	c.(901-903)GAA>CAA	p.E301Q	TIAM2_uc003qqe.2_Missense_Mutation_p.E301Q	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	301					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)														---	---	---	---	capture		Missense_Mutation	SNP	155451258	155451258	16419	6	G	C	C	41	41	TIAM2	C	3	3
FNDC1	84624	broad.mit.edu	37	6	159677649	159677649	+	Silent	SNP	A	G	G			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:159677649A>G	uc010kjv.2	+	18	5360	c.5160A>G	c.(5158-5160)CTA>CTG	p.L1720L		NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1720	Fibronectin type-III 5.					extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)														---	---	---	---	capture		Silent	SNP	159677649	159677649	6210	6	A	G	G	13	13	FNDC1	G	4	4
CCR6	1235	broad.mit.edu	37	6	167550795	167550795	+	Silent	SNP	G	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:167550795G>A	uc003qvl.2	+	13	3553	c.1077G>A	c.(1075-1077)CAG>CAA	p.Q359Q	CCR6_uc010kkm.2_Silent_p.Q359Q|CCR6_uc003qvn.3_Silent_p.Q359Q|CCR6_uc003qvm.3_Silent_p.Q359Q	NM_031409	NP_113597	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	359	Cytoplasmic (Potential).				cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			ovary(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)														---	---	---	---	capture		Silent	SNP	167550795	167550795	3072	6	G	A	A	33	33	CCR6	A	2	2
FAM120B	84498	broad.mit.edu	37	6	170626966	170626966	+	Missense_Mutation	SNP	T	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:170626966T>A	uc003qxp.2	+	2	596	c.488T>A	c.(487-489)GTA>GAA	p.V163E	FAM120B_uc003qxo.1_Missense_Mutation_p.V163E|FAM120B_uc011ehd.1_Intron	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	163					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)														---	---	---	---	capture		Missense_Mutation	SNP	170626966	170626966	5614	6	T	A	A	57	57	FAM120B	A	4	4
THSD7A	221981	broad.mit.edu	37	7	11514078	11514078	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:11514078G>A	uc003ssf.3	-	8	2387	c.2135C>T	c.(2134-2136)TCA>TTA	p.S712L		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	712	TSP type-1 7.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)											HNSCC(18;0.044)			---	---	---	---	capture		Missense_Mutation	SNP	11514078	11514078	16407	7	G	A	A	45	45	THSD7A	A	2	2
THSD7A	221981	broad.mit.edu	37	7	11632885	11632885	+	Missense_Mutation	SNP	C	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:11632885C>T	uc003ssf.3	-	3	1519	c.1267G>A	c.(1267-1269)GCC>ACC	p.A423T		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	423	Extracellular (Potential).|TSP type-1 4.					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)											HNSCC(18;0.044)			---	---	---	---	capture		Missense_Mutation	SNP	11632885	11632885	16407	7	C	T	T	25	25	THSD7A	T	2	2
EEPD1	80820	broad.mit.edu	37	7	36194244	36194244	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:36194244G>T	uc003tfa.2	+	2	951	c.311G>T	c.(310-312)GGC>GTC	p.G104V		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family	104					DNA repair		DNA binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	36194244	36194244	5119	7	G	T	T	42	42	EEPD1	T	2	2
CCL26	10344	broad.mit.edu	37	7	75401237	75401237	+	Missense_Mutation	SNP	G	C	C			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:75401237G>C	uc003udt.1	-	3	266	c.158C>G	c.(157-159)ACC>AGC	p.T53S		NM_006072	NP_006063	Q9Y258	CCL26_HUMAN	chemokine (C-C motif) ligand 26 precursor	53					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	75401237	75401237	3023	7	G	C	C	44	44	CCL26	C	3	3
ADAM22	53616	broad.mit.edu	37	7	87564408	87564408	+	Silent	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87564408G>T	uc003ujn.2	+	2	232	c.153G>T	c.(151-153)GTG>GTT	p.V51V	ADAM22_uc003uji.1_Silent_p.V50V|ADAM22_uc003ujj.1_Silent_p.V51V|ADAM22_uc003ujk.1_Silent_p.V51V|ADAM22_uc003ujl.1_Silent_p.V51V|ADAM22_uc003ujm.2_Silent_p.V51V|ADAM22_uc003ujo.2_Silent_p.V51V|ADAM22_uc003ujp.1_Silent_p.V103V	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	51					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---	capture		Silent	SNP	87564408	87564408	245	7	G	T	T	46	46	ADAM22	T	2	2
ZNF804B	219578	broad.mit.edu	37	7	88847538	88847538	+	Missense_Mutation	SNP	T	G	G			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:88847538T>G	uc011khi.1	+	2	716	c.178T>G	c.(178-180)TGT>GGT	p.C60G		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	60	C2H2-type.					intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)												HNSCC(36;0.09)			---	---	---	---	capture		Missense_Mutation	SNP	88847538	88847538	18769	7	T	G	G	51	51	ZNF804B	G	4	4
TMEM168	64418	broad.mit.edu	37	7	112424133	112424133	+	Missense_Mutation	SNP	C	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:112424133C>T	uc003vgn.2	-	2	1140	c.748G>A	c.(748-750)GAA>AAA	p.E250K	TMEM168_uc010lju.2_Missense_Mutation_p.E250K|TMEM168_uc011kmr.1_Intron	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN	transmembrane protein 168	250						integral to membrane|transport vesicle				ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	112424133	112424133	16617	7	C	T	T	29	29	TMEM168	T	2	2
GRM8	2918	broad.mit.edu	37	7	126173740	126173740	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:126173740G>T	uc003vlr.2	-	8	2007	c.1696C>A	c.(1696-1698)CGC>AGC	p.R566S	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.R566S|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	566	Extracellular (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)										HNSCC(24;0.065)			---	---	---	---	capture		Missense_Mutation	SNP	126173740	126173740	7082	7	G	T	T	39	39	GRM8	T	1	1
CHRM2	1129	broad.mit.edu	37	7	136700521	136700521	+	Silent	SNP	G	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:136700521G>A	uc003vtf.1	+	4	1532	c.909G>A	c.(907-909)CAG>CAA	p.Q303Q	CHRM2_uc003vtg.1_Silent_p.Q303Q|CHRM2_uc003vtj.1_Silent_p.Q303Q|CHRM2_uc003vtk.1_Silent_p.Q303Q|CHRM2_uc003vtl.1_Silent_p.Q303Q|CHRM2_uc003vtm.1_Silent_p.Q303Q|CHRM2_uc003vti.1_Silent_p.Q303Q|CHRM2_uc003vto.1_Silent_p.Q303Q|CHRM2_uc003vtn.1_Silent_p.Q303Q|uc003vtp.1_Intron	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	303	Cytoplasmic (By similarity).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)													---	---	---	---	capture		Silent	SNP	136700521	136700521	3511	7	G	A	A	35	35	CHRM2	A	2	2
SLC25A37	51312	broad.mit.edu	37	8	23423622	23423622	+	Missense_Mutation	SNP	C	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:23423622C>T	uc003xdo.2	+	2	365	c.212C>T	c.(211-213)ACA>ATA	p.T71I	SLC25A37_uc003xdn.1_Missense_Mutation_p.T71I|SLC25A37_uc003xdp.2_RNA|SLC25A37_uc010ltz.2_RNA|SLC25A37_uc003xdq.2_5'Flank	NM_016612	NP_057696	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25, member 37	71	Solcar 1.				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane					0		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)														---	---	---	---	capture		Missense_Mutation	SNP	23423622	23423622	14998	8	C	T	T	17	17	SLC25A37	T	2	2
FAM110B	90362	broad.mit.edu	37	8	59058840	59058840	+	Silent	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:59058840C>A	uc003xtj.1	+	5	931	c.51C>A	c.(49-51)CCC>CCA	p.P17P		NM_147189	NP_671722	Q8TC76	F110B_HUMAN	hypothetical protein LOC90362	17						microtubule organizing center|mitochondrion|nucleus				large_intestine(1)	1		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)																---	---	---	---	capture		Silent	SNP	59058840	59058840	5594	8	C	A	A	23	23	FAM110B	A	1	1
REXO1L1	254958	broad.mit.edu	37	8	86573759	86573759	+	Silent	SNP	C	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:86573759C>T	uc011lfw.1	-	1	1510	c.1464G>A	c.(1462-1464)CAG>CAA	p.Q488Q		NM_172239	NP_758439	Q8IX06	GOR_HUMAN	exonuclease GOR	656						cytoplasm|nucleus	exonuclease activity|nucleic acid binding				0																		---	---	---	---	capture		Silent	SNP	86573759	86573759	13712	8	C	T	T	28	28	REXO1L1	T	2	2
FAM83H	286077	broad.mit.edu	37	8	144808385	144808385	+	Silent	SNP	T	C	C			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144808385T>C	uc003yzk.2	-	5	3315	c.3246A>G	c.(3244-3246)CCA>CCG	p.P1082P	FAM83H_uc010mfk.1_RNA	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	FAM83H	1082					biomineral tissue development					lung(1)|central_nervous_system(1)|pancreas(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)															---	---	---	---	capture		Silent	SNP	144808385	144808385	5866	8	T	C	C	55	55	FAM83H	C	4	4
CDK20	23552	broad.mit.edu	37	9	90584108	90584108	+	Splice_Site	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:90584108C>A	uc004apr.2	-	7	1149	c.843_splice	c.e7+1	p.K281_splice	CDK20_uc004aps.2_Splice_Site_p.K260_splice|CDK20_uc004apt.2_Splice_Site_p.K273_splice|CDK20_uc004apu.2_Splice_Site_p.R219_splice	NM_001039803	NP_001034892			cell cycle related kinase isoform 3						cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1																		---	---	---	---	capture		Splice_Site	SNP	90584108	90584108	3266	9	C	A	A	18	18	CDK20	A	5	2
PTPN3	5774	broad.mit.edu	37	9	112199224	112199224	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:112199224G>T	uc004bed.2	-	9	726	c.614C>A	c.(613-615)TCC>TAC	p.S205Y	PTPN3_uc004beb.2_Missense_Mutation_p.S74Y|PTPN3_uc004bec.2_Missense_Mutation_p.S74Y|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.S205Y|PTPN3_uc011lwh.1_Missense_Mutation_p.S96Y	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	205	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	112199224	112199224	13246	9	G	T	T	41	41	PTPN3	T	2	2
NOTCH1	4851	broad.mit.edu	37	9	139410454	139410454	+	Missense_Mutation	SNP	A	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139410454A>T	uc004chz.2	-	10	1648	c.1648T>A	c.(1648-1650)TAC>AAC	p.Y550N	NOTCH1_uc004cia.1_5'Flank	NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	550	Extracellular (Potential).|EGF-like 14; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)				T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			---	---	---	---	capture		Missense_Mutation	SNP	139410454	139410454	10950	9	A	T	T	13	13	NOTCH1	T	4	4
NLGN4X	57502	broad.mit.edu	37	X	5811526	5811526	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:5811526G>A	uc010ndh.2	-	6	2284	c.1783C>T	c.(1783-1785)CCT>TCT	p.P595S	NLGN4X_uc004crp.2_Missense_Mutation_p.P615S|NLGN4X_uc004crq.2_Missense_Mutation_p.P595S|NLGN4X_uc010ndi.2_Missense_Mutation_p.P632S|NLGN4X_uc004crr.2_Missense_Mutation_p.P595S|NLGN4X_uc010ndj.2_Missense_Mutation_p.P595S	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	595	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	5811526	5811526	10867	23	G	A	A	41	41	NLGN4X	A	2	2
NHS	4810	broad.mit.edu	37	X	17750482	17750482	+	Silent	SNP	C	G	G			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:17750482C>G	uc004cxx.2	+	8	5129	c.4791C>G	c.(4789-4791)CGC>CGG	p.R1597R	NHS_uc011mix.1_Silent_p.R1618R|NHS_uc004cxy.2_Silent_p.R1441R|NHS_uc004cxz.2_Silent_p.R1420R|NHS_uc004cya.2_Silent_p.R1320R	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome protein isoform 1	1597						nucleus				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	Hepatocellular(33;0.183)																	---	---	---	---	capture		Silent	SNP	17750482	17750482	10811	23	C	G	G	28	28	NHS	G	3	3
SYTL5	94122	broad.mit.edu	37	X	37961665	37961665	+	Missense_Mutation	SNP	G	A	A	rs148783666		TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:37961665G>A	uc004ddu.2	+	11	1667	c.1133G>A	c.(1132-1134)CGT>CAT	p.R378H	SYTL5_uc004ddv.2_Missense_Mutation_p.R378H|SYTL5_uc004ddx.2_Missense_Mutation_p.R378H	NM_001163335	NP_001156807	Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5 isoform 1	378					intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	37961665	37961665	16007	23	G	A	A	40	40	SYTL5	A	1	1
OTC	5009	broad.mit.edu	37	X	38226644	38226644	+	Missense_Mutation	SNP	T	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:38226644T>A	uc004def.3	+	2	392	c.178T>A	c.(178-180)TCA>ACA	p.S60T		NM_000531	NP_000522	P00480	OTC_HUMAN	ornithine carbamoyltransferase precursor	60			S -> L (in OTCD).		arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			ovary(1)|breast(1)	2					L-Citrulline(DB00155)|L-Ornithine(DB00129)													---	---	---	---	capture		Missense_Mutation	SNP	38226644	38226644	11713	23	T	A	A	50	50	OTC	A	4	4
OTC	5009	broad.mit.edu	37	X	38268031	38268031	+	Missense_Mutation	SNP	G	A	A	rs72558430		TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:38268031G>A	uc004def.3	+	7	914	c.700G>A	c.(700-702)GAG>AAG	p.E234K		NM_000531	NP_000522	P00480	OTC_HUMAN	ornithine carbamoyltransferase precursor	234					arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			ovary(1)|breast(1)	2					L-Citrulline(DB00155)|L-Ornithine(DB00129)													---	---	---	---	capture		Missense_Mutation	SNP	38268031	38268031	11713	23	G	A	A	33	33	OTC	A	2	2
USP11	8237	broad.mit.edu	37	X	47104082	47104082	+	Silent	SNP	A	G	G			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47104082A>G	uc004dhp.2	+	15	1974	c.1974A>G	c.(1972-1974)GAA>GAG	p.E658E	USP11_uc004dhq.2_Splice_Site_p.D385_splice	NM_004651	NP_004642	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	658					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(1)|lung(1)|central_nervous_system(1)	3																		---	---	---	---	capture		Silent	SNP	47104082	47104082	17604	23	A	G	G	3	3	USP11	G	4	4
KDM5C	8242	broad.mit.edu	37	X	53228048	53228048	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53228048G>T	uc004drz.2	-	16	2799	c.2266C>A	c.(2266-2268)CTT>ATT	p.L756I	KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Missense_Mutation_p.L689I|KDM5C_uc004dsa.2_Missense_Mutation_p.L755I	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform	756					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18								N|F|S		clear cell renal carcinoma								---	---	---	---	capture		Missense_Mutation	SNP	53228048	53228048	8441	23	G	T	T	34	34	KDM5C	T	2	2
TRO	7216	broad.mit.edu	37	X	54952922	54952922	+	Missense_Mutation	SNP	G	C	C			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54952922G>C	uc004dtq.2	+	8	1764	c.1657G>C	c.(1657-1659)GCT>CCT	p.A553P	TRO_uc004dts.2_Missense_Mutation_p.A553P|TRO_uc004dtr.2_Missense_Mutation_p.A553P|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_RNA|TRO_uc004dtv.2_Missense_Mutation_p.A156P|TRO_uc011mok.1_Missense_Mutation_p.A84P|TRO_uc004dtw.2_Missense_Mutation_p.A156P|TRO_uc004dtx.2_5'UTR	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	trophinin isoform 5	553	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	54952922	54952922	17125	23	G	C	C	43	43	TRO	C	3	3
LAS1L	81887	broad.mit.edu	37	X	64749617	64749617	+	Missense_Mutation	SNP	A	C	C			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:64749617A>C	uc004dwa.1	-	5	728	c.656T>G	c.(655-657)GTT>GGT	p.V219G	LAS1L_uc004dwc.1_Missense_Mutation_p.V219G|LAS1L_uc004dwd.1_Missense_Mutation_p.V177G	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	LAS1-like	219						MLL1 complex|nucleolus	protein binding			ovary(3)|large_intestine(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	64749617	64749617	8959	23	A	C	C	2	2	LAS1L	C	4	4
MED12	9968	broad.mit.edu	37	X	70347886	70347886	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70347886G>T	uc004dyy.2	+	22	3324	c.3125G>T	c.(3124-3126)AGT>ATT	p.S1042I	MED12_uc011mpq.1_Missense_Mutation_p.S1042I|MED12_uc004dyz.2_Missense_Mutation_p.S1042I|MED12_uc004dza.2_Missense_Mutation_p.S889I|MED12_uc010nla.2_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	1042					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)																	---	---	---	---	capture		Missense_Mutation	SNP	70347886	70347886	9817	23	G	T	T	36	36	MED12	T	2	2
CYLC1	1538	broad.mit.edu	37	X	83128311	83128311	+	Missense_Mutation	SNP	G	C	C			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:83128311G>C	uc004eei.1	+	4	616	c.595G>C	c.(595-597)GAT>CAT	p.D199H	CYLC1_uc004eeh.1_Missense_Mutation_p.D198H	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	199					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	83128311	83128311	4306	23	G	C	C	33	33	CYLC1	C	3	3
DIAPH2	1730	broad.mit.edu	37	X	96203955	96203955	+	Silent	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:96203955C>A	uc004efu.3	+	15	1927	c.1531C>A	c.(1531-1533)CGA>AGA	p.R511R	DIAPH2_uc004eft.3_Silent_p.R511R	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156	511	Potential.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4																		---	---	---	---	capture		Silent	SNP	96203955	96203955	4698	23	C	A	A	31	31	DIAPH2	A	1	1
TNMD	64102	broad.mit.edu	37	X	99854654	99854654	+	Silent	SNP	C	G	G			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:99854654C>G	uc004efy.3	+	7	1120	c.894C>G	c.(892-894)GTC>GTG	p.V298V	TNMD_uc004efz.2_3'UTR	NM_022144	NP_071427	Q9H2S6	TNMD_HUMAN	tenomodulin	298	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1																		---	---	---	---	capture		Silent	SNP	99854654	99854654	16863	23	C	G	G	29	29	TNMD	G	3	3
CXorf57	55086	broad.mit.edu	37	X	105865895	105865895	+	Missense_Mutation	SNP	T	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:105865895T>A	uc004emi.3	+	2	809	c.658T>A	c.(658-660)TCC>ACC	p.S220T	CXorf57_uc004emj.3_Missense_Mutation_p.S220T|CXorf57_uc004emh.2_Missense_Mutation_p.S220T	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	hypothetical protein LOC55086	220										ovary(1)|lung(1)|breast(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	105865895	105865895	4277	23	T	A	A	62	62	CXorf57	A	4	4
MORC4	79710	broad.mit.edu	37	X	106205335	106205335	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:106205335G>T	uc004emu.3	-	10	1406	c.1163C>A	c.(1162-1164)ACA>AAA	p.T388K	MORC4_uc004emp.3_Intron|MORC4_uc004emv.3_Missense_Mutation_p.T388K|MORC4_uc004emw.3_Missense_Mutation_p.T136K	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	zinc finger, CW type with coiled-coil domain 2	388							ATP binding|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	106205335	106205335	10095	23	G	T	T	48	48	MORC4	T	2	2
TMEM164	84187	broad.mit.edu	37	X	109414655	109414655	+	Nonsense_Mutation	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:109414655C>A	uc004eom.2	+	6	913	c.594C>A	c.(592-594)TAC>TAA	p.Y198*	TMEM164_uc004eol.2_Nonsense_Mutation_p.Y49*|TMEM164_uc010npq.2_Nonsense_Mutation_p.Y159*	NM_032227	NP_115603	Q5U3C3	TM164_HUMAN	transmembrane protein 164 isoform b	198						integral to membrane				large_intestine(1)|lung(1)|skin(1)	3																		---	---	---	---	capture		Nonsense_Mutation	SNP	109414655	109414655	16613	23	C	A	A	17	17	TMEM164	A	5	2
RGAG1	57529	broad.mit.edu	37	X	109696915	109696915	+	Missense_Mutation	SNP	T	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:109696915T>A	uc004eor.1	+	3	3316	c.3070T>A	c.(3070-3072)TCT>ACT	p.S1024T	RGAG1_uc011msr.1_Missense_Mutation_p.S1024T	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1024										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	109696915	109696915	13747	23	T	A	A	62	62	RGAG1	A	4	4
THOC2	57187	broad.mit.edu	37	X	122759797	122759797	+	Missense_Mutation	SNP	G	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:122759797G>A	uc004etu.2	-	25	3055	c.3023C>T	c.(3022-3024)ACT>ATT	p.T1008I	THOC2_uc004etw.1_5'Flank	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	1008					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	122759797	122759797	16393	23	G	A	A	36	36	THOC2	A	2	2
ARHGAP36	158763	broad.mit.edu	37	X	130218915	130218915	+	Missense_Mutation	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:130218915G>T	uc004evz.2	+	7	1177	c.832G>T	c.(832-834)GAT>TAT	p.D278Y	ARHGAP36_uc004ewa.2_Missense_Mutation_p.D266Y|ARHGAP36_uc004ewb.2_Missense_Mutation_p.D247Y|ARHGAP36_uc004ewc.2_Missense_Mutation_p.D142Y	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	hypothetical protein LOC158763 precursor	278	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	130218915	130218915	895	23	G	T	T	41	41	ARHGAP36	T	2	2
MAP7D3	79649	broad.mit.edu	37	X	135309466	135309466	+	Nonsense_Mutation	SNP	C	A	A			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135309466C>A	uc004ezt.2	-	12	2102	c.2011G>T	c.(2011-2013)GAA>TAA	p.E671*	MAP7D3_uc004ezs.2_Nonsense_Mutation_p.E635*|MAP7D3_uc011mwc.1_Nonsense_Mutation_p.E653*|MAP7D3_uc010nsa.1_Nonsense_Mutation_p.E629*	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	671						cytoplasm|spindle				ovary(2)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---	capture		Nonsense_Mutation	SNP	135309466	135309466	9652	23	C	A	A	30	30	MAP7D3	A	5	2
RBMX	27316	broad.mit.edu	37	X	135958790	135958790	+	Missense_Mutation	SNP	A	G	G			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135958790A>G	uc004fae.1	-	5	623	c.413T>C	c.(412-414)TTT>TCT	p.F138S	RBMX_uc004fac.1_5'Flank|RBMX_uc011mwf.1_Intron|RBMX_uc004fad.1_Missense_Mutation_p.F138S|RBMX_uc011mwg.1_Missense_Mutation_p.F99S|RBMX_uc004faf.1_5'UTR|RBMX_uc010nsf.1_Missense_Mutation_p.F99S|RBMX_uc004fag.1_Missense_Mutation_p.F10S	NM_002139	NP_002130	P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked isoform 1	138						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---	capture		Missense_Mutation	SNP	135958790	135958790	13613	23	A	G	G	1	1	RBMX	G	4	4
L1CAM	3897	broad.mit.edu	37	X	153137710	153137710	+	Silent	SNP	G	T	T			TCGA-22-5485-01	TCGA-22-5485-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153137710G>T	uc004fjb.2	-	4	405	c.297C>A	c.(295-297)GGC>GGA	p.G99G	L1CAM_uc004fjc.2_Silent_p.G99G|L1CAM_uc010nuo.2_Silent_p.G94G|L1CAM_uc004fjd.1_5'Flank|L1CAM_uc004fje.1_Silent_p.G94G	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	99	Extracellular (Potential).|Ig-like C2-type 1.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---	capture		Silent	SNP	153137710	153137710	8911	23	G	T	T	46	46	L1CAM	T	2	2
