Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
HIST1H2AL	8332	broad.mit.edu	37	6	27833185	27833185	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr6:27833185G>C	ENST00000357320.2	+	1	152	c.53G>C	c.(52-54)cGc>cCc	p.R18P		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	18					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						GCCAAGACCCGCTCTTCTCGT	0.632000													54	57					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		GTGGGGGCAGCGCCTCACAAC	0.652000	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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)			31	35					0	0	1	0	0
THUMPD3	25917	broad.mit.edu	37	3	9412772	9412772	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr3:9412772T>C	ENST00000345094.3	+	4	693	c.359T>C	c.(358-360)tTg>tCg	p.L120S	THUMPD3_ENST00000452837.2_Missense_Mutation_p.L120S|THUMPD3_ENST00000515662.2_Missense_Mutation_p.L120S|SETD5-AS1_ENST00000468186.1_RNA	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	120							methyltransferase activity|protein binding|RNA binding			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		TTTGAAGACTTGGCTGGAAAA	0.333000													28	89					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48697720	48697720	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr8:48697720C>G	ENST00000314191.2	-	78	11114	c.11058G>C	c.(11056-11058)atG>atC	p.M3686I	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.M3686I	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3687					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGAAGTCGCTCATCCAGGGTG	0.458000								Non-homologous end-joining					3	49					0	0	1	0	0
AC006293.3	0	broad.mit.edu	37	19	55220476	55220476	+	RNA	SNP	A	A	G			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr19:55220476A>G	ENST00000413439.1	+	0	614																											GGGACCCTGGATACCCAGGGT	0.582000													5	8					0	0	1	0	0
GPR21	2844	broad.mit.edu	37	9	125797418	125797418	+	Silent	SNP	C	C	T			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr9:125797418C>T	ENST00000373642.1	+	1	613	c.573C>T	c.(571-573)ttC>ttT	p.F191F	RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000373647.4_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	191						integral to plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						ACTCCTACTTCACCCTGTTCA	0.502000													43	67					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		AGGCGGCTCATAGGGCACCAC	0.557000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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)			18	13					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170101387	170101387	+	Silent	SNP	T	T	C			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr2:170101387T>C	ENST00000263816.3	-	22	3531	c.3246A>G	c.(3244-3246)gcA>gcG	p.A1082A	LRP2_ENST00000443831.1_Silent_p.A945A	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1082	LDL-receptor class A 9.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGCGCCAGTGTGCAGGAATGC	0.507000													5	73					0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148407349	148407349	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr5:148407349T>C	ENST00000538184.1	-	7	1475	c.587A>G	c.(586-588)cAc>cGc	p.H196R	SH3TC2_ENST00000512049.1_Missense_Mutation_p.H642R|SH3TC2_ENST00000394358.2_Missense_Mutation_p.H534R|SH3TC2_ENST00000515425.1_Missense_Mutation_p.H649R			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	649							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCTCCTCGTGCCGGCCTAG	0.642000													19	10					0	0	1	0	0
PRKCH	5583	broad.mit.edu	37	14	62014587	62014587	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr14:62014587C>T	ENST00000332981.5	+	13	2273	c.1888C>T	c.(1888-1890)Cct>Tct	p.P630S	RP11-47I22.4_ENST00000556347.1_Silent_p.R134R|PRKCH_ENST00000556245.1_3'UTR|PRKCH_ENST00000555082.1_Missense_Mutation_p.P469S	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	630	AGC-kinase C-terminal.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		AATAGAACCGCCTTTCAGACC	0.517000													5	125					0	0	1	0	0
SEC14L4	284904	broad.mit.edu	37	22	30890140	30890140	+	Nonsense_Mutation	SNP	G	G	A	rs141785416		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr22:30890140G>A	ENST00000392772.2	-	7	692	c.415C>T	c.(415-417)Cga>Tga	p.R139*	SEC14L4_ENST00000540456.1_Nonsense_Mutation_p.R178*|SEC14L4_ENST00000381982.3_Nonsense_Mutation_p.R193*|SEC14L4_ENST00000255858.7_Nonsense_Mutation_p.R193*			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	193	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity	p.R193*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	GGCTTACCTCGAATAACAATT	0.483000													3	48					0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143748010	143748010	+	Missense_Mutation	SNP	T	T	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr7:143748010T>A	ENST00000408906.2	+	1	550	c.516T>A	c.(514-516)caT>caA	p.H172Q		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					GTGGGCCCCATGAAATCAACC	0.542000													43	182					0	0	1	0	0
OTOP1	133060	broad.mit.edu	37	4	4199680	4199680	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr4:4199680C>T	ENST00000296358.4	-	5	905	c.881G>A	c.(880-882)cGc>cAc	p.R294H		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	294					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GTCAACTTTGCGCCCGATGTT	0.562000													6	49					0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33385821	33385821	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr9:33385821G>A	ENST00000537089.1	-	6	611	c.293C>T	c.(292-294)aCg>aTg	p.T98M	AQP7_ENST00000541274.1_Silent_p.H58H|AQP7_ENST00000539936.1_Missense_Mutation_p.T190M|AQP7_ENST00000377425.4_Missense_Mutation_p.T133M			O14520	AQP7_HUMAN	aquaporin 7	190					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CTCCTGGTCCGTGATGGCGAA	0.612000													31	50					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57552342	57552342	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr12:57552342C>G	ENST00000243077.3	+	11	2185	c.1719C>G	c.(1717-1719)atC>atG	p.I573M		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	573					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCGGCTTCATCTACTTTGCCG	0.577000													17	16					0	0	1	0	0
ASIC3	9311	broad.mit.edu	37	7	150747946	150747946	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr7:150747946C>A	ENST00000357922.4	+	4	1509	c.915C>A	c.(913-915)agC>agA	p.S305R	ASIC3_ENST00000349064.5_Missense_Mutation_p.S305R|ASIC3_ENST00000297512.8_Missense_Mutation_p.S305R	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN	acid-sensing (proton-gated) ion channel 3	305					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										ccagccccagccccagcccTC	0.637000													5	11					0.014758	0.0156261	1	1	0
PPP2R5B	5526	broad.mit.edu	37	11	64699330	64699330	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr11:64699330C>T	ENST00000164133.2	+	11	1728	c.1106C>T	c.(1105-1107)cCc>cTc	p.P369L		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	369					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						GTTTCCAGCCCCCATTTCCAG	0.557000													7	31					0	0	1	0	0
ZDHHC11	79844	broad.mit.edu	37	5	843744	843744	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr5:843744C>A	ENST00000283441.8	-	4	982	c.599G>T	c.(598-600)gGg>gTg	p.G200V	ZDHHC11_ENST00000424784.2_Missense_Mutation_p.G200V|ZDHHC11_ENST00000511539.1_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	200						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GCGGAGCACCCCGGGGTTCAC	0.637000													3	16					0.150653	0.150653	1	1	0
ANKRD54	129138	broad.mit.edu	37	22	38227984	38227984	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr22:38227984A>G	ENST00000215941.4	-	8	1061	c.869T>C	c.(868-870)cTc>cCc	p.L290P	ANKRD54_ENST00000406423.1_Missense_Mutation_p.L170P|ANKRD54_ENST00000498417.1_5'UTR|ANKRD54_ENST00000411961.2_Missense_Mutation_p.L274P	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54	290										lung(1)	1	Melanoma(58;0.045)					CTGCAGACTGAGGGAGGTGAA	0.602000													3	11					0	0	1	0	0
AC024560.3	0	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs138265355	by1000genomes	TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532000													5	50					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								33	34					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130919378	130919378	+	Silent	SNP	G	G	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr12:130919378G>A	ENST00000261655.4	-	11	2266	c.2103C>T	c.(2101-2103)taC>taT	p.Y701Y	RIMBP2_ENST00000535703.1_Silent_p.Y609Y|RIMBP2_ENST00000536002.1_Silent_p.Y609Y	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	701						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CTGAGGCGGCGTACTGCCCCG	0.587000													19	20					0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102339304	102339304	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chrX:102339304G>A	ENST00000395065.3	-	3	418	c.317C>T	c.(316-318)cCg>cTg	p.P106L	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.P17L	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	106						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GGTCCCATCCGGCATGTTCCC	0.473000													23	38					0	0	1	0	0
SGCE	8910	broad.mit.edu	37	7	94259039	94259039	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr7:94259039G>C	ENST00000415788.2	-	3	419	c.332C>G	c.(331-333)cCa>cGa	p.P111R	SGCE_ENST00000265735.7_Missense_Mutation_p.P75R|SGCE_ENST00000447873.1_Missense_Mutation_p.P75R|SGCE_ENST00000437425.2_Intron|SGCE_ENST00000445866.2_Missense_Mutation_p.P75R|SGCE_ENST00000428696.2_Missense_Mutation_p.P75R			O43556	SGCE_HUMAN	sarcoglycan, epsilon	75					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ACCAGGTTTTGGGTAAGGTGG	0.333000													4	152					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170127551	170127551	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr2:170127551G>T	ENST00000263816.3	-	16	2468	c.2183C>A	c.(2182-2184)aCc>aAc	p.T728N	LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	728					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATCTTCCTGGGTAGACAAGGT	0.438000													7	27					5.18039e-06	5.709e-06	1	1	0
CD72	971	broad.mit.edu	37	9	35616134	35616134	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr9:35616134G>A	ENST00000396757.1	-	6	658	c.494C>T	c.(493-495)gCg>gTg	p.A165V	CD72_ENST00000259633.4_Missense_Mutation_p.A165V|CD72_ENST00000490239.1_5'UTR			P21854	CD72_HUMAN	CD72 molecule	165					axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTGACTCTGCGCCAGCTCTCT	0.607000													19	58					0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111559245	111559245	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr2:111559245C>A	ENST00000389811.4	+	8	788	c.564C>A	c.(562-564)gaC>gaA	p.D188E	ACOXL_ENST00000439055.1_Missense_Mutation_p.D188E|ACOXL_ENST00000340561.4_Missense_Mutation_p.D188E			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	188					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						ATGGTGTGGACAATGGGATAT	0.453000													15	53					1.3612e-06	1.53135e-06	1	1	0
SATL1	340562	broad.mit.edu	37	X	84362924	84362924	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chrX:84362924G>C	ENST00000509231.1	-	1	1130	c.1051C>G	c.(1051-1053)Cca>Gca	p.P351A	SATL1_ENST00000395409.3_Missense_Mutation_p.P164A|SATL1_ENST00000332921.5_Missense_Mutation_p.P164A			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	164	N-acetyltransferase.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CGTTGCGGTGGACCTGGTTGG	0.542000													21	0					0	0	1	0	0
DPP4	1803	broad.mit.edu	37	2	162903987	162903987	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr2:162903987C>T	ENST00000360534.3	-	3	679	c.119G>A	c.(118-120)cGc>cAc	p.R40H		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	40					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	GTAAGTTTTGCGACTGTCAGC	0.343000													3	36					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7522118	7522118	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr12:7522118C>A	ENST00000313599.3	-	15	3931	c.3874G>T	c.(3874-3876)Gct>Tct	p.A1292S	CD163L1_ENST00000396630.1_Missense_Mutation_p.A1292S|CD163L1_ENST00000416109.2_Missense_Mutation_p.A1302S			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1292	SRCR 12.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GCAGCCAGAGCAGAGCCACAG	0.592000													6	128					0.0215528	0.0223817	1	1	0
TEK	7010	broad.mit.edu	37	9	27157891	27157891	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr9:27157891G>A	ENST00000380036.4	+	2	557	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	TEK_ENST00000406359.4_Missense_Mutation_p.E39K|TEK_ENST00000519097.1_Intron	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	39					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		ATCTGATGCTGAAACATCTCT	0.478000													19	83					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57552234	57552234	+	Silent	SNP	C	C	T			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr12:57552234C>T	ENST00000243077.3	+	11	2077	c.1611C>T	c.(1609-1611)atC>atT	p.I537I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	537					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGCCAGGCATCATCCGGGGCA	0.592000													16	22					0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14340397	14340397	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr16:14340397T>C	ENST00000571589.1	+	12	1452	c.1280T>C	c.(1279-1281)aTt>aCt	p.I427T	MKL2_ENST00000574045.1_Missense_Mutation_p.I427T|MKL2_ENST00000318282.5_Missense_Mutation_p.I427T|MKL2_ENST00000341243.5_Missense_Mutation_p.I416T	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	416					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCGGACCTCATTGAGCGCCTA	0.507000													8	42					0	0	1	0	0
ALOX15	246	broad.mit.edu	37	17	4540428	4540428	+	Silent	SNP	G	G	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr17:4540428G>A	ENST00000570836.1	-	8	1029	c.933C>T	c.(931-933)ctC>ctT	p.L311L	ALOX15_ENST00000574640.1_Silent_p.L272L|ALOX15_ENST00000293761.3_Silent_p.L311L|ALOX15_ENST00000545513.1_Silent_p.L333L			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	311	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	CCATGGGCAAGAGTTTCCCAT	0.522000													8	55					0	0	1	0	0
RASSF6	166824	broad.mit.edu	37	4	74442136	74442136	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr4:74442136A>G	ENST00000307439.5	-	10	1223	c.929T>C	c.(928-930)aTa>aCa	p.I310T	RASSF6_ENST00000342081.3_Missense_Mutation_p.I342T|RASSF6_ENST00000335049.5_Missense_Mutation_p.I298T|RASSF6_ENST00000395777.2_Missense_Mutation_p.I276T	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	342					apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CTTTGTTACTATTCTTTGAAT	0.328000													3	56					0	0	1	0	0
POM121L9P	0	broad.mit.edu	37	22	24659536	24659536	+	RNA	SNP	C	C	T			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr22:24659536C>T	ENST00000414583.2	+	0	3061					NR_003714.1																						GATCTCATCGCGGACACCACT	0.512000													3	18					0	0	1	0	0
SCNN1A	0	broad.mit.edu	37	12	6457372	6457372	+	Silent	SNP	G	G	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr12:6457372G>A	ENST00000358945.3	-	13	2183	c.1743C>T	c.(1741-1743)ttC>ttT	p.F581F	SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000360168.3_Silent_p.F618F|SCNN1A_ENST00000228916.2_Silent_p.F559F|SCNN1A_ENST00000540037.1_Silent_p.F259F|SCNN1A_ENST00000543768.1_Silent_p.F582F			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	559					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CCGAGGAGCCGAACCACAGGC	0.567000													30	63					0	0	1	0	0
DPT	1805	broad.mit.edu	37	1	168698267	168698267	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr1:168698267T>C	ENST00000367817.3	-	1	235	c.146A>G	c.(145-147)cAg>cGg	p.Q49R		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	49	2 X 53-55 AA tandem repeats.				cell adhesion	extracellular space|proteinaceous extracellular matrix				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					CTGGGGACACTGGTAGCTGAA	0.552000													5	71					0	0	1	0	0
KRT83	3889	broad.mit.edu	37	12	52715004	52715004	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr12:52715004C>T	ENST00000293670.3	-	1	178	c.116G>A	c.(115-117)gGc>gAc	p.G39D		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	39	Head.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCAGGAGATGCCGCGGTAGGG	0.706000													8	1005					0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41601812	41601812	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr19:41601812C>A	ENST00000330436.3	+	9	1451	c.1451C>A	c.(1450-1452)cCa>cAa	p.P484Q		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	484					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	GCCACGATCCCACGAAACTAC	0.632000													18	74					4.35082e-09	5.10748e-09	1	1	0
VPS13B	157680	broad.mit.edu	37	8	100533211	100533211	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr8:100533211G>A	ENST00000358544.2	+	30	4904	c.4793G>A	c.(4792-4794)aGa>aAa	p.R1598K	VPS13B_ENST00000357162.2_Missense_Mutation_p.R1573K|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1598					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCCCTTGGCAGATCTGTCCTT	0.403000													9	56					0	0	1	0	0
GALNT1	2589	broad.mit.edu	37	18	33243711	33243711	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr18:33243711A>G	ENST00000269195.5	+	2	362	c.259A>G	c.(259-261)Atg>Gtg	p.M87V	GALNT1_ENST00000537549.1_Missense_Mutation_p.M27V|GALNT1_ENST00000591081.1_Missense_Mutation_p.M87V	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)	87					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						GTTCAATTTAATGGCAAGTGA	0.378000													13	47					0	0	1	0	0
WFDC8	90199	broad.mit.edu	37	20	44184381	44184381	+	Missense_Mutation	SNP	A	A	T			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr20:44184381A>T	ENST00000357199.4	-	4	482	c.404T>A	c.(403-405)tTc>tAc	p.F135Y	WFDC8_ENST00000289953.2_Missense_Mutation_p.F135Y	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	135	BPTI/Kunitz inhibitor.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				CTCATTTAAGAAGTTGTTGGC	0.443000													4	70					0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17675524	17675524	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr6:17675524T>C	ENST00000262077.2	-	4	658	c.659A>G	c.(658-660)cAg>cGg	p.Q220R	NUP153_ENST00000537253.1_Missense_Mutation_p.Q220R	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	220					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GGCAGTGTGCTGTGAGAGTGA	0.418000													30	32					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32036883	32036883	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr6:32036883G>A	ENST00000375244.3	-	16	5819	c.5618C>T	c.(5617-5619)aCg>aTg	p.T1873M	TNXB_ENST00000375247.2_Missense_Mutation_p.T1873M			P22105	TENX_HUMAN	tenascin XB	1955	Fibronectin type-III 11.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGTCGGGGCCGTGGTCTCAGT	0.622000													10	43					0	0	1	0	0
SAMD11	148398	broad.mit.edu	37	1	879504	879505	+	Frame_Shift_Ins	INS	-	-	C			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr1:879504_879505insC	ENST00000342066.3	+	14	2100_2101	c.2017_2018insC	c.(2017-2019)cccfs	p.P673fs		NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	673						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		ACTTCCAGGGGCCCCCGACCCT	0.653													11	113	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145109293	145109294	+	RNA	INS	-	-	A	rs7364468		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr1:145109293_145109294insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										caaaaaaaaagaaaaaaaaaaa	0.431													2	4	---	---	---	---					
S100A7A	338324	broad.mit.edu	37	1	153391722	153391726	+	Frame_Shift_Del	DEL	CATAG	CATAG	-	rs112079848		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr1:153391722_153391726delCATAG	ENST00000368729.4	+	3	300_304	c.243_247delCATAG	c.(241-249)gaccfs	p.DIA81fs	S100A7A_ENST00000368728.2_Frame_Shift_Del_p.DIA81fs|S100A7A_ENST00000329256.2_Frame_Shift_Del_p.DIA81fs	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	81	EF-hand 2.					cytoplasm	calcium ion binding			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCTGGGAGACATAGCCGCAGACTA	0.517													20	40	---	---	---	---					
IGKV1D-16	0	broad.mit.edu	37	2	90139264	90139264	+	RNA	DEL	T	T	-			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr2:90139264delT	ENST00000492446.1	+	0	82																											TGGACATTTGTTTTTATGTTT	0.443													59	87	---	---	---	---					
RP11-571L19.7	0	broad.mit.edu	37	4	99877753	99877754	+	RNA	DEL	AA	AA	-	rs33952764		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr4:99877753_99877754delAA	ENST00000583654.1	+	0	237																											actctgtctcaaaaaaaaaaaa	0.450													2	4	---	---	---	---					
GARS	2617	broad.mit.edu	37	7	30634583	30634585	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr7:30634583_30634585delCTG	ENST00000389266.3	+	1	287_289	c.46_48delCTG	c.(46-48)del	p.L20del		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	20					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TCGCGCCGCTCTGCTGCTGCTGC	0.749													3	5	---	---	---	---					
TRGC1	0	broad.mit.edu	37	7	38301855	38301856	+	RNA	DEL	GT	GT	-			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr7:38301855_38301856delGT	ENST00000443402.2	-	0	330					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					TCAATTGTTCGTGTGTGTGTGT	0.356													8	79	---	---	---	---					
SLC12A9	56996	broad.mit.edu	37	7	100463503	100463504	+	Frame_Shift_Ins	INS	-	-	C	rs149306595	byFrequency	TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr7:100463503_100463504insC	ENST00000354161.3	+	14	2146_2147	c.2021_2022insC	c.(2020-2022)accfs	p.T674fs		NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	674						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCTCCTGGGAGCCCCCGGGCCC	0.678													8	44	---	---	---	---					
CELP	0	broad.mit.edu	37	9	135962465	135962465	+	RNA	DEL	T	T	-	rs63239560		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr9:135962465delT	ENST00000411440.2	+	0	972					NR_001275.2																						AGGATGCCCCTGTGCCCCTCA	0.677													4	5	---	---	---	---					
ABCA17P	0	broad.mit.edu	37	16	2475097	2475098	+	RNA	DEL	TC	TC	-			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr16:2475097_2475098delTC	ENST00000469908.1	+	0	3047					NR_003574.1																						GGTAActctgtctctctctctc	0.559													7	51	---	---	---	---					
AP1M2	10053	broad.mit.edu	37	19	10685148	10685148	+	Frame_Shift_Del	DEL	A	A	-			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr19:10685148delA	ENST00000590923.1	-	11	1283	c.1200delT	c.(1198-1200)atfs	p.I400fs	AP1M2_ENST00000250244.6_Frame_Shift_Del_p.I398fs			Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	398	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CACTTTTCTCAATGATCTTCA	0.582													2	4	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76920170	76920173	+	Frame_Shift_Del	DEL	TTCT	TTCT	-			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chrX:76920170_76920173delTTCT	ENST00000373344.5	-	11	4118_4121	c.3904_3907delAGAA	c.(3904-3909)ctfs	p.RT1302fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.RT1264fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1302					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.R1302fs*7(1)|p.?(1)|p.R1302fs*44(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TGTTTTCCAGTTCTTTTTTTCCCT	0.377			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						69	3	---	---	---	---					
ZFP92	139735	broad.mit.edu	37	X	152686423	152686423	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chrX:152686423delG	ENST00000338647.5	+	4	589	c.588delG	c.(586-588)ctfs	p.L196fs		NM_001136273.1	NP_001129745.1	A6NM28	ZFP92_HUMAN	ZFP92 zinc finger protein	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(4)	6						TCGCGCTCCTGGAGCACCAGC	0.637													2	4	---	---	---	---					
