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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ANKRD20A9P	284232	broad.mit.edu	37	13	19415641	19415641	+	RNA	SNP	A	T	T			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr13:19415641A>T	uc010tcj.1	-	0		c.30469T>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		aaaaaaaaaaaaacccaaaca	0.418000														37			4		0	0	0.150653	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153313006	153313006	+	Missense_Mutation	SNP	G	C	C			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr1:153313006G>C	uc001fbo.3	-	6	740	c.675C>G	c.(673-675)caC>caG	p.H225Q	PGLYRP4_uc001fbp.3_Missense_Mutation_p.H221Q	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	225					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	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)			TCCTGGGACAGTGGGTCTCCC	0.602000														88			8		0	0	0.307466	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561501	44561501	+	Silent	SNP	C	T	T			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr18:44561501C>T	uc002lcr.1	-	0	488	c.135G>A	c.(133-135)gcG>gcA	p.A45A	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	45	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTCCAGTCTCCGCCAGGATGT	0.577000														43			11		0	0	0.387290	0	0
SNED1	25992	broad.mit.edu	37	2	241969887	241969887	+	Missense_Mutation	SNP	G	A	A			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr2:241969887G>A	uc002wah.1	+	1	400	c.400G>A	c.(400-402)Gtc>Atc	p.V134I		NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	134	NIDO.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CACGGAGGACGTCAGGCACTA	0.627000														22			6		0	0	0.248553	0	0
GPR45	11250	broad.mit.edu	37	2	105858978	105858978	+	Silent	SNP	G	A	A	rs141451236		TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr2:105858978G>A	uc002tco.1	+	0	779	c.663G>A	c.(661-663)acG>acA	p.T221T		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	Homo sapiens G protein-coupled receptor 45 (GPR45), mRNA.	221						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TCCTCAACACGGTCCGCAAGA	0.677000														62			25		0	0	0.654019	0	0
KRTAP1-1	81851	broad.mit.edu	37	17	39197549	39197549	+	Missense_Mutation	SNP	G	C	C			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr17:39197549G>C	uc002hvw.1	-	0	165	c.101C>G	c.(100-102)tCc>tGc	p.S34C		NM_030967	NP_112229	Q07627	KRA11_HUMAN	Homo sapiens keratin associated protein 1-1 (KRTAP1-1), mRNA.	34			Missing (in allele KAP1.7).|PSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQT SFCGFP -> R (in allele KAP1.6).			extracellular region|keratin filament		p.S34C(12)		NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCTGGCAGGAGCTGGTCTC	0.612000														92			3		0	0	0.150653	0	0
ADAM32	203102	broad.mit.edu	37	8	39091490	39091490	+	Silent	SNP	G	C	C			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr8:39091490G>C	uc003xmt.4	+	15	1952	c.1707G>C	c.(1705-1707)gtG>gtC	p.V569V	ADAM32_uc011lch.2_Silent_p.V470V|ADAM32_uc003xmu.4_Silent_p.V463V|ADAM32_uc003xmv.3_Intron	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	569					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			ATGGTGATGTGATTTATGCTT	0.368000														16			8		0	0	0.361761	0	0
HFM1	164045	broad.mit.edu	37	1	91818120	91818120	+	Silent	SNP	A	G	G			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr1:91818120A>G	uc001doa.4	-	15	2019	c.1920T>C	c.(1918-1920)ttT>ttC	p.F640F	HFM1_uc009wdb.3_Non-coding_Transcript|HFM1_uc010osu.2_Silent_p.F319F|HFM1_uc010osv.1_Silent_p.F324F	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	640	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TGTACTCTTCAAACAGTCCTC	0.358000														99			19		0	0	0.539581	0	0
PPP1R12C	54776	broad.mit.edu	37	19	55607493	55607493	+	Missense_Mutation	SNP	G	C	C			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr19:55607493G>C	uc002qix.3	-	7	1095	c.1079C>G	c.(1078-1080)tCc>tGc	p.S360C	PPP1R12C_uc010yfs.2_Missense_Mutation_p.S286C|PPP1R12C_uc002qiy.3_Missense_Mutation_p.S360C|Mir_324_uc021vbr.1_5'Flank	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12C (PPP1R12C), mRNA.	360						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GCGCTCCTTGGACAAGTCCTG	0.657000														83			14		0	0	0.479597	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261778	39261778	+	Silent	SNP	A	G	G	rs143952367	by1000genomes	TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr17:39261778A>G	uc010wfp.2	+	0	138	c.138A>G	c.(136-138)gtA>gtG	p.V46V		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.	46	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						GCTGTTGTGTATCCAGCTGCT	0.652000														54			4		0	0	0.184627	0	0
ATRX	546	broad.mit.edu	37	X	76939964	76939964	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chrX:76939964G>A	uc004ecp.4	-	8	1016	c.784C>T	c.(784-786)Caa>Taa	p.Q262*	ATRX_uc004ecq.4_Nonsense_Mutation_p.Q224*|ATRX_uc004eco.4_Nonsense_Mutation_p.Q47*|ATRX_uc004ecr.2_Nonsense_Mutation_p.Q223*|ATRX_uc010nlx.1_Nonsense_Mutation_p.Q262*|ATRX_uc010nly.1_Nonsense_Mutation_p.Q207*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	262	ADD.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.N261N(1)|p.?(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)	CAATACCATTGGTTGTTTTCA	0.393000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							59			146		0	0	0.870114	0	0
NEB	4703	broad.mit.edu	37	2	152406213	152406213	+	Silent	SNP	A	G	G			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr2:152406213A>G	uc021vrb.1	-	100	14912	c.14883T>C	c.(14881-14883)taT>taC	p.Y4961Y	NEB_uc002txr.3_Silent_p.Y1427Y|NEB_uc002txu.3_Silent_p.Y6662Y|NEB_uc021vrc.1_Silent_p.Y6662Y|NEB_uc010fnx.3_Silent_p.Y4949Y|NEB_uc021vrd.1_Silent_p.Y4961Y	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4961					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGGAAGTCTATATCCAGTGG	0.488000														22			4		0	0	0.150653	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118583	118583	+	RNA	SNP	A	G	G			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chrGL000205.1:118583A>G	uc002kgk.4	+	0		c.1961A>G								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		CTGATTCCGGACATATGCATC	0.373000														37			7		0	0	0.278610	0	0
OR5M8	219484	broad.mit.edu	37	11	56258829	56258829	+	Silent	SNP	C	T	T	rs137871700		TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr11:56258829C>T	uc001nix.1	-	0	18	c.18G>A	c.(16-18)acG>acA	p.T6T	OR8U8_uc001nit.2_Intron	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA.	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CAGTCACCAACGTGCAGTTTC	0.408000														88			36		0	0	0.779181	0	0
ROR1	4919	broad.mit.edu	37	1	64515592	64515592	+	Silent	SNP	C	T	T	rs148616064		TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr1:64515592C>T	uc001dbj.2	+	2	792	c.393C>T	c.(391-393)tgC>tgT	p.C131C	ROR1_uc001dbi.4_Silent_p.C131C	NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	131	Ig-like C2-type.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						ACTTCCAGTGCGTGGCAACAA	0.567000														81			44		0	0	0.870114	0	0
LIMA1	51474	broad.mit.edu	37	12	50586281	50586281	+	Missense_Mutation	SNP	G	A	A			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr12:50586281G>A	uc001rwj.4	-	8	1268	c.1094C>T	c.(1093-1095)tCc>tTc	p.S365F	LIMA1_uc001rwg.4_Missense_Mutation_p.S63F|LIMA1_uc001rwh.4_Missense_Mutation_p.S205F|LIMA1_uc001rwi.4_Missense_Mutation_p.S206F|LIMA1_uc001rwk.4_Missense_Mutation_p.S366F|LIMA1_uc010sms.2_Non-coding_Transcript|LIMA1_uc010smr.2_Non-coding_Transcript	NM_016357	NP_001230704	Q9UHB6	LIMA1_HUMAN	Homo sapiens LIM domain and actin binding 1 (LIMA1), transcript variant 2, mRNA.	365					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GGAGGCTCTGGAATCTGGACT	0.458000														90			8		0	0	0.307466	0	0
OR2A12	346525	broad.mit.edu	37	7	143793006	143793006	+	Missense_Mutation	SNP	G	A	A			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr7:143793006G>A	uc011kty.2	+	0	806	c.806G>A	c.(805-807)cGg>cAg	p.R269Q		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TCTCAAGAACGGAGGAAGATC	0.527000														335			8		0	0	0.361761	0	0
FLJ00285	0	broad.mit.edu	37	16	15221662	15221662	+	Missense_Mutation	SNP	G	A	A			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr16:15221662G>A	uc002ddh.2	-	6	1635	c.1243C>T	c.(1243-1245)Cgg>Tgg	p.R415W	PDXDC1_uc002ddc.3_Intron|FLJ00285_uc010uzs.1_Non-coding_Transcript|FLJ00285_uc002ddi.3_Missense_Mutation_p.R191W|FLJ00285_uc010uzt.2_Missense_Mutation_p.R415W					RecName: Full=GPS, PLAT and transmembrane domain-containing protein FLJ00285;									p.T414T(2)									CGAGGCGGCCGGTCCCATATG	0.632000														8			3		0	0	0.150653	0	0
RUFY1	80230	broad.mit.edu	37	5	179016595	179016595	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr5:179016595C>T	uc003mka.1	+	8	1075	c.1075C>T	c.(1075-1077)Cag>Tag	p.Q359*	RUFY1_uc003mkb.1_Nonsense_Mutation_p.Q251*|RUFY1_uc003mkc.1_Nonsense_Mutation_p.Q251*|RUFY1_uc003mkd.1_5'Flank	NM_025158	NP_001035542	Q96T51	RUFY1_HUMAN	Homo sapiens RUN and FYVE domain containing 1 (RUFY1), transcript variant 1, mRNA.	359					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAACAGCAGCAGTTAAGAGA	0.353000										HNSCC(44;0.11)				48			25		0	0	0.681144	0	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	T	T	rs28934576	by1000genomes	TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr17:7577120C>T	uc002gim.2	-	7	1012	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and 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; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GGCACAAACACGCACCTCAAA	0.542000	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)				11			35		0	0	0.769981	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	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|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(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									72			28		0	0	0.706142	0	0
DL490867	0	broad.mit.edu	37	17	19015618	19015618	+	RNA	SNP	G	C	C			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr17:19015618G>C	uc010vym.1	-	0		c.39C>G								Novel nucleic acids.																		AGCCGTCACCGCTGAAACAGG	0.547000														125			3		0	0	0.115264	0	0
TMEM132D	121256	broad.mit.edu	37	12	130185090	130185090	+	Missense_Mutation	SNP	C	T	T			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr12:130185090C>T	uc009zyl.1	-	1	561	c.233G>A	c.(232-234)cGg>cAg	p.R78Q		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	78						integral to membrane		p.R78R(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGACTCCACCCGGGACTGCAG	0.547000														64			27		0	0	0.667858	0	0
SESN3	143686	broad.mit.edu	37	11	94923103	94923103	+	Missense_Mutation	SNP	G	A	A			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr11:94923103G>A	uc001pfk.1	-	3	587	c.365C>T	c.(364-366)tCt>tTt	p.S122F	SESN3_uc010rug.1_Intron|SESN3_uc001pfl.3_Missense_Mutation_p.S122F	NM_144665	NP_653266	P58005	SESN3_HUMAN	Homo sapiens sestrin 3 (SESN3), mRNA.	122					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TATTAAGTAAGAACACTGATG	0.328000														61			20		0	0	0.575678	0	0
SLC30A2	7780	broad.mit.edu	37	1	26371659	26371659	+	Missense_Mutation	SNP	G	C	C			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr1:26371659G>C	uc001blg.1	-	1	317	c.100C>G	c.(100-102)Ccc>Gcc	p.P34A	SLC30A2_uc001blh.1_Missense_Mutation_p.P34A	NM_001004434	NP_001004434	Q9BRI3	ZNT2_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 2 (SLC30A2), transcript variant 1, mRNA.	34					positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity			cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGTCGGGGCAGAGGAATC	0.597000														50			24		0	0	0.693898	0	0
RBMS2	5939	broad.mit.edu	37	12	56975653	56975653	+	Missense_Mutation	SNP	C	G	G			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr12:56975653C>G	uc001sln.2	+	7	968	c.769C>G	c.(769-771)Ctt>Gtt	p.L257V	RBMS2_uc010sqp.1_Missense_Mutation_p.L112V|RBMS2_uc010sqq.1_Missense_Mutation_p.L132V|RBMS2_uc009zou.2_Missense_Mutation_p.L14V	NM_002898	NP_002889	Q15434	RBMS2_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 2 (RBMS2), mRNA.	257					RNA processing	nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						CACCACAGCTCTTCAGAATGG	0.433000														211			5		0	0	0.217242	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	G	G	rs146714035	by1000genomes	TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr1:145367739A>G	uc021oul.1	+	82	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3445								p.K3445K(8)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000														134			4		0	0	0.150653	0	0
ARMC2	84071	broad.mit.edu	37	6	109294621	109294621	+	Silent	SNP	T	C	C			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr6:109294621T>C	uc003pss.4	+	17	2682	c.2508T>C	c.(2506-2508)caT>caC	p.H836H	ARMC2_uc011eao.2_Silent_p.H671H	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	Homo sapiens armadillo repeat containing 2 (ARMC2), mRNA.	836							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		ACAAACTCCATTGGGAAACAG	0.393000														70			50		0	0	0.870114	0	0
MST1P2	11209	broad.mit.edu	37	1	16974141	16974141	+	RNA	DEL	G	-	-			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr1:16974141delG	uc009vow.2	+	4		c.951delG			CROCCP2_uc001azg.1_5'Flank|CROCCP2_uc001azi.1_5'Flank|MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Intron|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Intron|MST1P2_uc009vox.3_Intron|MST1P2_uc001azm.4_Intron					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		TGGCTTGGCCGGGGAGGTCAG	0.667													---	4	---	---	3	---					
KIF1A	547	broad.mit.edu	37	2	241696841	241696843	+	In_Frame_Del	DEL	TCC	-	-	rs71779512		TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr2:241696841_241696843delTCC	uc010fzk.3	-	26	2998_3000	c.2751_2753delGGA	c.(2749-2754)gaggat>gat	p.E917del	KIF1A_uc002vzy.3_Intron|KIF1A_uc002vzz.2_In_Frame_Del_p.E917del	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	697					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	p.Q916*(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ctcctcctcatcctcctcctcct	0.675													---	4	---	---	2	---					
PCDH10	57575	broad.mit.edu	37	4	134072600	134072601	+	Frame_Shift_Ins	INS	-	C	C			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr4:134072600_134072601insC	uc003iha.3	+	0	2131_2132	c.1305_1306insC	c.(1303-1308)gctcggfs	p.A435fs	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Frame_Shift_Ins_p.A435fs	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	435	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A435A(2)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTGTAGTGGCTCGGGACCGGGG	0.594													---	299	---	---	8	---					
HLA-DRB5	3127	broad.mit.edu	37	6	32546736	32546737	+	Frame_Shift_Ins	INS	-	AG	AG	rs35165835	by1000genomes	TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr6:32546736_32546737insAG	uc011dqb.1	-	1	417_418	c.277_278insCT	c.(277-279)tgcfs	p.C93fs	HLA-DRB5_uc003obk.4_Intron|HLA-DRB5_uc021yvx.1_Intron|HLA-DRB5_uc003obo.1_Intron|AK293020_uc010jub.1_5'Flank|HLA-DRB5_uc003obp.4_3'UTR			Q30154	DRB5_HUMAN	Homo sapiens major histocompatibility complex, class II, DR beta 1 (HLA-DRB1), transcript variant 2, mRNA.	0	Beta-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						ACATTTTCTGCAGTTGCCGAAC	0.530													---	3	---	---	3	---					
LOC650623	650623	broad.mit.edu	37	10	81444693	81444693	+	RNA	DEL	C	-	-			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr10:81444693delC	uc010qlu.2	+	0		c.1963delC								Homo sapiens BEN domain containing 3 pseudogene (LOC650623), non-coding RNA.																		GGCGCTCCTACCAGCAGCAGT	0.557													---	4	---	---	2	---					
