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
AC007228.9	0	broad.mit.edu	37	19	57184245	57184245	+	RNA	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:57184245A>T	ENST00000602145.1	-	0	1024				AC007228.5_ENST00000599726.1_lincRNA																							AGAAAAAGACATCATTCTGGA	0.468000													13	24					0	0	0.105934	0	0
MYOM1	8736	broad.mit.edu	37	18	3089175	3089175	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr18:3089175G>T	ENST00000400569.3	-	29	4467	c.4134C>A	c.(4132-4134)tgC>tgA	p.C1378*	MYOM1_ENST00000261606.7_Nonsense_Mutation_p.C1282*|MYOM1_ENST00000356443.4_Nonsense_Mutation_p.C1378*			P52179	MYOM1_HUMAN	myomesin 1	1378	Ig-like C2-type 4.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTCTTACCTTGCATTTCAATA	0.318000													9	24					0.00829132	0.00861198	0.069234	1	0
PTPRD	5789	broad.mit.edu	37	9	8389318	8389318	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr9:8389318C>A	ENST00000381196.4	-	34	4843	c.4300G>T	c.(4300-4302)Gaa>Taa	p.E1434*	PTPRD_ENST00000486161.1_Nonsense_Mutation_p.E1027*|PTPRD_ENST00000360074.4_Nonsense_Mutation_p.E1421*|PTPRD_ENST00000358503.5_Nonsense_Mutation_p.E1412*|PTPRD_ENST00000356435.5_Nonsense_Mutation_p.E1434*|PTPRD_ENST00000355233.5_Nonsense_Mutation_p.E1028*|PTPRD_ENST00000397606.3_Nonsense_Mutation_p.E1027*|PTPRD_ENST00000537002.1_Nonsense_Mutation_p.E1024*|PTPRD_ENST00000397617.3_Nonsense_Mutation_p.E1027*|PTPRD_ENST00000397611.3_Nonsense_Mutation_p.E1024*|PTPRD_ENST00000540109.1_Nonsense_Mutation_p.E1434*	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1434	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCAAATGTTTCGGGGAGAGAT	0.418000										TSP Lung(15;0.13)			46	113					6.17242e-35	9.35818e-35	0.139131	1	0
REG4	83998	broad.mit.edu	37	1	120351358	120351358	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:120351358A>T	ENST00000369401.4	-	2	300	c.35T>A	c.(34-36)cTg>cAg	p.L12Q	REG4_ENST00000256585.5_Missense_Mutation_p.L12Q|REG4_ENST00000530654.1_Missense_Mutation_p.L12Q|REG4_ENST00000354219.1_Missense_Mutation_p.L12Q	NM_001159353.1	NP_001152825.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	12						extracellular region	sugar binding			central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		CAGGCAGCTCAGCAATAGGAG	0.532000											OREG0013729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	36					0	0	0.146539	0	0
AK5	26289	broad.mit.edu	37	1	77759485	77759485	+	Silent	SNP	T	T	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:77759485T>A	ENST00000344720.5	+	3	1203	c.177T>A	c.(175-177)ccT>ccA	p.P59P	AK5_ENST00000354567.2_Silent_p.P85P|AK5_ENST00000317704.4_Intron	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	85					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						CAGTAATGCCTGAAAACTCAA	0.368000													22	40					0	0	0.062417	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237734	140237734	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr5:140237734G>T	ENST00000307360.5	+	1	2101	c.2101G>T	c.(2101-2103)Gcc>Tcc	p.A701S	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGATCATCGCCATCTGCGC	0.677000													17	68					2.35188e-11	2.90891e-11	0.038395	1	0
L1CAM	3897	broad.mit.edu	37	X	153136268	153136268	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chrX:153136268G>A	ENST00000370060.1	-	7	860	c.671C>T	c.(670-672)cCc>cTc	p.P224L	L1CAM_ENST00000361699.4_Missense_Mutation_p.P224L|L1CAM_ENST00000538883.1_Missense_Mutation_p.P226L|L1CAM_ENST00000370055.1_Missense_Mutation_p.P219L|L1CAM_ENST00000370057.3_Missense_Mutation_p.P224L|L1CAM_ENST00000361981.3_Missense_Mutation_p.P219L|L1CAM_ENST00000543994.1_Missense_Mutation_p.P226L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	224	Ig-like C2-type 2.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGGTCAATGGGTTCCTTCTG	0.572000													27	30					0	0	0.108266	0	0
KBTBD8	84541	broad.mit.edu	37	3	67058585	67058585	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr3:67058585G>T	ENST00000295568.4	+	4	1635	c.1504G>T	c.(1504-1506)Gta>Tta	p.V502L	KBTBD8_ENST00000460576.1_Missense_Mutation_p.V86L|KBTBD8_ENST00000417314.2_Missense_Mutation_p.V528L	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	528										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CCTTAAACTGGTACTTTTCCA	0.363000													47	60					2.64894e-19	3.6087e-19	0.139131	1	0
CYB5R1	51706	broad.mit.edu	37	1	202931772	202931772	+	Silent	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:202931772G>A	ENST00000367249.4	-	9	875	c.801C>T	c.(799-801)ccC>ccT	p.P267P	CYB5R1_ENST00000497655.1_5'UTR	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	267					sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)			CCCCTGGAGCGGGCAGGTGTT	0.537000													4	87					0	0	0.009096	0	0
HEATR2	54919	broad.mit.edu	37	7	803547	803547	+	Silent	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr7:803547G>T	ENST00000297440.6	+	8	1739	c.1719G>T	c.(1717-1719)tcG>tcT	p.S573S	HEATR2_ENST00000313147.5_Silent_p.S573S	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	573							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TGACCGCGTCGCACCTTGACT	0.652000													32	101					2.23313e-29	3.2799e-29	0.050027	1	0
SERINC1	57515	broad.mit.edu	37	6	122792857	122792857	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr6:122792857G>A	ENST00000368454.1	-	3	355	c.26C>T	c.(25-27)tCc>tTc	p.S9F	SERINC1_ENST00000339697.3_Missense_Mutation_p.S9F			Q9NRX5	SERC1_HUMAN	serine incorporator 1	9					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		GCTCGCCATGGAGCACAGCCC	0.587000													36	63					0	0	0.064281	0	0
BTBD9	114781	broad.mit.edu	37	6	38545426	38545426	+	Silent	SNP	T	T	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr6:38545426T>C	ENST00000481247.1	-	6	1255	c.1104A>G	c.(1102-1104)caA>caG	p.Q368Q	BTBD9_ENST00000403056.1_Silent_p.Q368Q|BTBD9_ENST00000314100.6_Silent_p.Q300Q|BTBD9_ENST00000419706.2_Silent_p.Q309Q|BTBD9_ENST00000408958.1_Silent_p.Q300Q	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	368					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						GACACAGATATTGTGAATGAT	0.338000													4	76					0	0	0.014758	0	0
GABRG1	2565	broad.mit.edu	37	4	46099217	46099217	+	Splice_Site	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr4:46099217C>T	ENST00000295452.4	-	2	421		c.e2+1			NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1						gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CTCAAGCTTACCTCCTATATC	0.353000													27	46					0	0	0.108266	0	0
CALB2	794	broad.mit.edu	37	16	71411645	71411645	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr16:71411645A>G	ENST00000302628.4	+	4	414	c.337A>G	c.(337-339)Atg>Gtg	p.M113V	CALB2_ENST00000349553.5_Missense_Mutation_p.M113V	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	113	EF-hand 3.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				CGCCGAGTTTATGGAGGTGAG	0.582000													18	26					0	0	0.038395	0	0
HELLS	3070	broad.mit.edu	37	10	96341154	96341154	+	Silent	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr10:96341154G>A	ENST00000348459.5	+	11	1209	c.1104G>A	c.(1102-1104)agG>agA	p.R368R	HELLS_ENST00000371332.4_Silent_p.R368R|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394045.1_Intron|RP11-119K6.6_ENST00000432120.1_RNA	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	368	Helicase ATP-binding.				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GTCTAATCAGGGAGTTAAAAC	0.338000													23	31					0	0	0.069288	0	0
CRYZ	1429	broad.mit.edu	37	1	75175927	75175927	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:75175927C>T	ENST00000417775.1	-	7	989	c.485G>A	c.(484-486)gGa>gAa	p.G162E	CRYZ_ENST00000370871.3_Missense_Mutation_p.G162E|CRYZ_ENST00000340866.5_Missense_Mutation_p.G162E|CRYZ_ENST00000370872.3_Missense_Mutation_p.G25E	NM_001130042.1	NP_001123514.1	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	162					protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicumarol(DB00266)	TGCTGCTAATCCAACCTGAAA	0.378000													20	41					0	0	0.049695	0	0
HTR1E	3354	broad.mit.edu	37	6	87725613	87725613	+	Silent	SNP	G	G	A	rs146708836		TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr6:87725613G>A	ENST00000305344.4	+	2	1264	c.561G>A	c.(559-561)acG>acA	p.T187T	HTR1E_ENST00000369584.1_Silent_p.T187T	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	187					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TTTACTCCACGCTGGGTGCGT	0.532000													16	46					0	0	0.132662	0	0
VWF	7450	broad.mit.edu	37	12	6103248	6103248	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr12:6103248G>C	ENST00000261405.5	-	37	6632	c.6378C>G	c.(6376-6378)atC>atG	p.I2126M		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2126	VWFD 4.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCTCCTCCAGGATGGGCTGGC	0.572000													28	39					0	0	0.099896	0	0
DMRT1	1761	broad.mit.edu	37	9	894137	894137	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr9:894137A>T	ENST00000382276.3	+	3	913	c.764A>T	c.(763-765)aAc>aTc	p.N255I	DMRT1_ENST00000569227.1_Missense_Mutation_p.N97I	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	255					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		CCTGTGAAGAACAGCCTTCGG	0.532000											OREG0019071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	62					0	0	0.099896	0	0
PIWIL1	9271	broad.mit.edu	37	12	130847575	130847575	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr12:130847575C>A	ENST00000245255.3	+	18	2353	c.2081C>A	c.(2080-2082)cCc>cAc	p.P694H		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	694	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GAGTACATGCCCAGCCGGATC	0.488000													29	70					6.38683e-12	7.95182e-12	0.134883	1	0
SMOC1	64093	broad.mit.edu	37	14	70418906	70418906	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr14:70418906C>T	ENST00000381280.4	+	2	404	c.151C>T	c.(151-153)Caa>Taa	p.Q51*	SMOC1_ENST00000555917.1_3'UTR|SMOC1_ENST00000361956.3_Nonsense_Mutation_p.Q51*	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	51	Kazal-like.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CTCCAGGACTCAACCCAAACC	0.527000													44	74					0	0	0.117977	0	0
STYXL1	51657	broad.mit.edu	37	7	75659763	75659763	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr7:75659763C>T	ENST00000451157.1	-	2	248	c.79G>A	c.(79-81)Gac>Aac	p.D27N	STYXL1_ENST00000359697.3_Missense_Mutation_p.D27N|STYXL1_ENST00000248600.1_Missense_Mutation_p.D27N|STYXL1_ENST00000340062.5_Missense_Mutation_p.D27N|STYXL1_ENST00000431581.1_Missense_Mutation_p.D27N|STYXL1_ENST00000460184.2_5'UTR|STYXL1_ENST00000360591.3_Missense_Mutation_p.D27N			Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	27	Rhodanese.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						TAGTTGGGGTCTGTTAATCTG	0.398000													14	47					0	0	0.146539	0	0
AKAP13	11214	broad.mit.edu	37	15	86262350	86262350	+	Silent	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr15:86262350C>T	ENST00000394518.2	+	23	6140	c.6045C>T	c.(6043-6045)atC>atT	p.I2015I	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Silent_p.I2019I|AKAP13_ENST00000394510.2_Silent_p.I260I	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2015	DH.|Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.K2018fs*1(3)|p.K94fs*1(3)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CTCTCAAGATCATGAGTGGTG	0.463000													18	67					0	0	0.038395	0	0
KCND3	3752	broad.mit.edu	37	1	112524989	112524989	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:112524989G>C	ENST00000369697.1	-	1	429	c.360C>G	c.(358-360)ttC>ttG	p.F120L	KCND3_ENST00000302127.4_Missense_Mutation_p.F120L|KCND3_ENST00000315987.2_Missense_Mutation_p.F120L			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	120						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GGATGCCGTAGAAGGCCAGCT	0.627000													19	43					0	0	0.043863	0	0
NSUN7	79730	broad.mit.edu	37	4	40810420	40810420	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr4:40810420C>T	ENST00000381782.2	+	12	2116	c.1621C>T	c.(1621-1623)Cgg>Tgg	p.R541W	NSUN7_ENST00000316607.5_3'UTR	NM_024677.4	NP_078953.3			NOP2/Sun domain family, member 7									p.R541W(1)		NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						ATCATCAAAACGGGAGAAGAA	0.448000													3	43					0	0	0.009096	0	0
KCNF1	3754	broad.mit.edu	37	2	11053919	11053919	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr2:11053919C>A	ENST00000295082.1	+	1	1857	c.1367C>A	c.(1366-1368)cCt>cAt	p.P456H		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	456						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CCTCCAGAGCCTGCGGGGAAG	0.677000													13	24					3.27435e-08	3.82347e-08	0.119110	1	0
OR2L8	391190	broad.mit.edu	37	1	248112914	248112914	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:248112914C>A	ENST00000357191.3	+	1	755	c.755C>A	c.(754-756)gCa>gAa	p.A252E	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TTCTACTATGCACCTTTTGTC	0.478000													38	160					2.3623e-07	2.67537e-07	0.117977	1	0
LHX4	89884	broad.mit.edu	37	1	180235559	180235559	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:180235559A>T	ENST00000263726.2	+	3	525	c.281A>T	c.(280-282)cAg>cTg	p.Q94L		NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	94	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						GCCTGCCAGCAGGGTATCCCC	0.617000													5	122					0	0	0.014758	0	0
NT5E	4907	broad.mit.edu	37	6	86181041	86181041	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr6:86181041G>T	ENST00000257770.3	+	3	698	c.649G>T	c.(649-651)Gca>Tca	p.A217S	NT5E_ENST00000369646.3_Missense_Mutation_p.A217S|NT5E_ENST00000369651.3_Missense_Mutation_p.A217S	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	217					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	CAAAATTATTGCACTGGGACA	0.388000													12	28					0.010729	0.0110827	0.080935	1	0
HIGD2B	123346	broad.mit.edu	37	15	72968691	72968691	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr15:72968691G>C	ENST00000311755.3	-	3	548	c.25C>G	c.(25-27)Ccg>Gcg	p.P9A						HIG1 hypoxia inducible domain family, member 2B																		GGGGCCTCCGGAGTCACAAAG	0.502000													6	8					0	0	0.021553	0	0
SH3BP1	23616	broad.mit.edu	37	22	38046679	38046679	+	Silent	SNP	G	G	T	rs139958398	byFrequency	TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr22:38046679G>T	ENST00000599616.1	+	14	1353	c.1353G>T	c.(1351-1353)ccG>ccT	p.P451P	Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000357436.4_Silent_p.P515P			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	515	Rho-GAP.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					ctccggctccggctccagctc	0.637000													22	29					2.52088e-20	3.45931e-20	0.076483	1	0
NFATC2IP	84901	broad.mit.edu	37	16	28970370	28970370	+	Silent	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr16:28970370C>A	ENST00000320805.4	+	7	1125	c.1050C>A	c.(1048-1050)ctC>ctA	p.L350L	NFATC2IP_ENST00000568148.1_Silent_p.L58L|NFATC2IP_ENST00000564978.1_Silent_p.L71L|RP11-264B17.2_ENST00000569974.1_RNA	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	350	Ubiquitin-like.					cytoplasm|nucleus				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						AGCTCCAGCTCCGGGTGCAGG	0.587000													21	34					1.22574e-08	1.44024e-08	0.069288	1	0
TTYH3	80727	broad.mit.edu	37	7	2686562	2686562	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr7:2686562T>A	ENST00000258796.7	+	2	404	c.199T>A	c.(199-201)Tgg>Agg	p.W67R	TTYH3_ENST00000407643.1_Missense_Mutation_p.W67R	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	67						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CTACTCCTTCTGGCTGTGCTG	0.697000													6	18					0	0	0.021553	0	0
EVC	2121	broad.mit.edu	37	4	5800495	5800495	+	Silent	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr4:5800495G>T	ENST00000382674.2	+	15	2464	c.2280G>T	c.(2278-2280)cgG>cgT	p.R760R	EVC_ENST00000515113.1_3'UTR|EVC_ENST00000264956.6_Silent_p.R760R			P57679	EVC_HUMAN	Ellis van Creveld syndrome	760			R -> Q (in dbSNP:rs2279252).		muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CCAAGAGCCGGGCCAAGGACA	0.632000													5	15					0.00198382	0.00208356	0.029380	1	0
PDCD6IP	10015	broad.mit.edu	37	3	33870389	33870389	+	Silent	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr3:33870389C>T	ENST00000307296.3	+	7	1139	c.762C>T	c.(760-762)gcC>gcT	p.A254A	PDCD6IP_ENST00000457054.2_Silent_p.A259A			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	254	BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TCATGCAGGCCAATGCTGAGT	0.438000													35	77					0	0	0.050027	0	0
ATF6B	1388	broad.mit.edu	37	6	32089112	32089112	+	Silent	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr6:32089112C>T	ENST00000375201.4	-	6	528	c.483G>A	c.(481-483)aaG>aaA	p.K161K	ATF6B_ENST00000375203.3_Silent_p.K164K			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	164					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						CAGGTTCTATCTTGGTCTGGA	0.542000													10	22					0	0	0.069234	0	0
TRBV5-1	28614	broad.mit.edu	37	7	142021299	142021299	+	RNA	SNP	T	T	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr7:142021299T>A	ENST00000390381.3	+	0	588																											ACTCTCGCTCTGAGATGAATG	0.517000													28	43					0	0	0.134883	0	0
COL11A1	1301	broad.mit.edu	37	1	103412505	103412505	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:103412505G>T	ENST00000358392.2	-	42	3529	c.3212C>A	c.(3211-3213)cCa>cAa	p.P1071Q	COL11A1_ENST00000512756.1_Missense_Mutation_p.P943Q|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1020Q|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1059Q	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1059	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACGTTCTCCTGGTGAGCCCTA	0.463000													10	15					4.68919e-08	5.44178e-08	0.069234	1	0
VARS	7407	broad.mit.edu	37	6	31760560	31760560	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr6:31760560C>A	ENST00000375663.3	-	4	1075	c.635G>T	c.(634-636)gGa>gTa	p.G212V	VARS_ENST00000444930.2_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	212	GST C-terminal.				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	AGGCCTGGCTCCTGAGTATAG	0.562000													27	50					9.04412e-07	1.00609e-06	0.099896	1	0
YTHDC2	64848	broad.mit.edu	37	5	112926863	112926863	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr5:112926863A>T	ENST00000161863.4	+	27	4164	c.3951A>T	c.(3949-3951)gaA>gaT	p.E1317D		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1317	YTH.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CTAGTAATGAACGGAAGCTAA	0.403000													69	130					0	0	0.139131	0	0
USP6	9098	broad.mit.edu	37	17	5048007	5048007	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr17:5048007C>T	ENST00000574788.1	+	26	4071	c.1841C>T	c.(1840-1842)cCc>cTc	p.P614L	USP6_ENST00000332776.4_Missense_Mutation_p.P614L|USP6_ENST00000250066.6_Missense_Mutation_p.P614L|USP6_ENST00000304328.5_Missense_Mutation_p.P297L			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	614					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AAATATGCTCCCAAGTTTGAT	0.388000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								48	74					0	0	0.139131	0	0
GGT3P	2679	broad.mit.edu	37	22	18778675	18778675	+	RNA	SNP	C	C	T	rs141850257	by1000genomes	TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr22:18778675C>T	ENST00000412448.1	-	0	730																											AGACAGAGGCCGACAATGACC	0.627000													3	15					0	0	0.014758	0	0
C2orf16	84226	broad.mit.edu	37	2	27802438	27802438	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr2:27802438C>T	ENST00000408964.2	+	1	3050	c.2999C>T	c.(2998-3000)aCa>aTa	p.T1000I		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1000										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ATAAAGAAGACAAACTCAACG	0.443000													21	55					0	0	0.062417	0	0
BRAF	673	broad.mit.edu	37	7	140481411	140481411	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr7:140481411C>A	ENST00000288602.6	-	11	1457	c.1397G>T	c.(1396-1398)gGa>gTa	p.G466V		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	466	Protein kinase.		G -> A (in melanoma).|G -> E (in melanoma).|G -> V (in LNCR).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.G466V(15)|p.G466E(5)|p.G466A(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCCAAATGATCCAGATCCAAT	0.378000	G466V(CAL12T_LUNG)|G466V(NCIH1666_LUNG)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				40	74					5.85753e-14	7.44065e-14	0.139131	1	0
RBMXL2	27288	broad.mit.edu	37	11	7111194	7111194	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr11:7111194G>T	ENST00000306904.5	+	1	1030	c.843G>T	c.(841-843)gaG>gaT	p.E281D		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	281	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCCATCGAGAGCCCTTTGAGA	0.662000													16	23					6.31663e-08	7.19713e-08	0.132662	1	0
KCNQ3	3786	broad.mit.edu	37	8	133196573	133196573	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr8:133196573C>G	ENST00000388996.4	-	3	939	c.519G>C	c.(517-519)ttG>ttC	p.L173F	KCNQ3_ENST00000519445.1_Missense_Mutation_p.L173F|KCNQ3_ENST00000521134.1_Missense_Mutation_p.L53F	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	173					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CCCAGATCCTCAAAGCAAACT	0.532000													48	79					0	0	0.139131	0	0
PLK2	10769	broad.mit.edu	37	5	57751897	57751897	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr5:57751897A>T	ENST00000274289.3	-	10	1640	c.1340T>A	c.(1339-1341)aTg>aAg	p.M447K	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	447					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		TCTGACTATCATCCGAATAGC	0.468000													29	50					0	0	0.045705	0	0
MYT1	4661	broad.mit.edu	37	20	62831276	62831276	+	Splice_Site	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr20:62831276G>T	ENST00000536311.1	+	4	450		c.e4+1		MYT1_ENST00000328439.1_Splice_Site|MYT1_ENST00000360149.4_Splice_Site			Q01538	MYT1_HUMAN	myelin transcription factor 1						cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CAGACCTCAGGTAAGGAAGTC	0.483000													39	478					7.66079e-34	1.15218e-33	0.117977	1	0
CLDN8	9073	broad.mit.edu	37	21	31587992	31587992	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr21:31587992C>A	ENST00000399899.1	-	1	399	c.252G>T	c.(250-252)atG>atT	p.M84I	CLDN8_ENST00000286809.1_Missense_Mutation_p.M84I	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	84					calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						AAGCAGCACACATCAGTCCTC	0.527000													31	53					1.21669e-08	1.4386e-08	0.059317	1	0
CTSV	1515	broad.mit.edu	37	9	99798884	99798884	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr9:99798884C>A	ENST00000259470.5	-	5	791	c.542G>T	c.(541-543)gGc>gTc	p.G181V	CTSV_ENST00000538255.1_Missense_Mutation_p.G181V	NM_001333.3	NP_001324.2			cathepsin V																		AGCCATGAAGCCACCATTGCA	0.512000													26	50					1.85244e-09	2.23243e-09	0.083992	1	0
LYST	1130	broad.mit.edu	37	1	235937220	235937220	+	Silent	SNP	T	T	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:235937220T>C	ENST00000389794.3	-	19	5880	c.5706A>G	c.(5704-5706)gtA>gtG	p.V1902V	LYST_ENST00000389793.2_Silent_p.V1902V|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1902					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CATTAGAGTCTACATCCAACT	0.328000													33	79					0	0	0.059317	0	0
POTED	317754	broad.mit.edu	37	21	15013702	15013702	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr21:15013702C>A	ENST00000299443.5	+	11	1622	c.1570C>A	c.(1570-1572)Cgt>Agt	p.R524S		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	524						plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						AGATCTCTTGCGTGAAAACAG	0.353000													14	15					1.5739e-10	1.92138e-10	0.146539	1	0
PNPLA6	10908	broad.mit.edu	37	19	7622093	7622093	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:7622093C>T	ENST00000221249.6	+	30	3637	c.3206C>T	c.(3205-3207)tCg>tTg	p.S1069L	PNPLA6_ENST00000450331.3_Missense_Mutation_p.S1069L|PNPLA6_ENST00000414982.3_Missense_Mutation_p.S1117L|PNPLA6_ENST00000545201.2_Missense_Mutation_p.S1042L|PNPLA6_ENST00000600737.1_Missense_Mutation_p.S1107L	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1108	Patatin.				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						ATGACGCTGTCGGGCTACCTG	0.672000													16	48					0	0	0.146539	0	0
ATP2B2	491	broad.mit.edu	37	3	10443877	10443877	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr3:10443877G>A	ENST00000397077.1	-	6	1128	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	ATP2B2_ENST00000383800.4_Missense_Mutation_p.R185C|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R185C|ATP2B2_ENST00000352432.4_Missense_Mutation_p.R185C|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R185C			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	185					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGCTCGATGCGGCTCTGCAGG	0.577000													7	228					0	0	0.047766	0	0
IGKV1-27	28935	broad.mit.edu	37	2	89512935	89512935	+	RNA	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr2:89512935A>T	ENST00000498435.1	-	0	354																											TTTGACAGTAATAAGTTGCAA	0.512000													6	173					0	0	0.105934	0	0
USP41	373856	broad.mit.edu	37	22	20729853	20729853	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr22:20729853C>A	ENST00000454608.2	-	6	326	c.327G>T	c.(325-327)aaG>aaT	p.K109N						ubiquitin specific peptidase 41											endometrium(1)|kidney(1)|lung(2)|skin(1)	5						TGTCCTGCATCTTCTCCAGCA	0.597000													5	14					2.0095e-06	2.22227e-06	0.029380	1	0
HCN3	57657	broad.mit.edu	37	1	155258202	155258202	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:155258202C>T	ENST00000368358.3	+	8	2281	c.2273C>T	c.(2272-2274)cCa>cTa	p.P758L	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	758	Pro-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCCAGGCCACCAGTGCCTGAG	0.602000													27	108					0	0	0.099896	0	0
VN1R4	317703	broad.mit.edu	37	19	53770687	53770687	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:53770687G>T	ENST00000311170.4	-	1	285	c.232C>A	c.(232-234)Ctt>Att	p.L78I		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	78					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	p.L78I(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		TTGCACCCAAGAGCATTGAGA	0.493000										HNSCC(26;0.072)			20	37					1.96292e-10	2.38083e-10	0.055883	1	0
TAS2R19	259294	broad.mit.edu	37	12	11175134	11175134	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr12:11175134C>G	ENST00000390673.2	-	1	85	c.37G>C	c.(37-39)Gta>Cta	p.V13L	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	13					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						GCAAACACTACCAGAATTGAT	0.388000													18	51					0	0	0.062417	0	0
PTGS2	5743	broad.mit.edu	37	1	186645094	186645094	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:186645094G>A	ENST00000367468.5	-	8	1329	c.1193C>T	c.(1192-1194)tCt>tTt	p.S398F	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	398					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	CAGCAATATAGAGTTGTTGTA	0.383000													7	134					0	0	0.029380	0	0
HTR4	3360	broad.mit.edu	37	5	147830764	147830764	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr5:147830764A>T	ENST00000354217.2	-	7	1311	c.1148T>A	c.(1147-1149)cTg>cAg	p.L383Q	HTR4_ENST00000521735.1_3'UTR|HTR4_ENST00000314512.6_3'UTR|HTR4_ENST00000521530.1_Missense_Mutation_p.L383Q			Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	0					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	GCATGATTCCAGGGATTCTGG	0.473000													55	138					0	0	0.139131	0	0
MCM10	55388	broad.mit.edu	37	10	13217680	13217680	+	Splice_Site	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr10:13217680A>T	ENST00000378694.1	+	5	838	c.764_splice	c.e5+1	p.R255_splice	MCM10_ENST00000484800.2_Splice_Site_p.R256_splice|MCM10_ENST00000378714.3_Splice_Site_p.R255_splice			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	256					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TCTGCGGCTCAGGTCAGTAGC	0.493000													54	110					0	0	0.139131	0	0
VCAN	1462	broad.mit.edu	37	5	82836167	82836167	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr5:82836167C>A	ENST00000265077.3	+	8	7910	c.7345C>A	c.(7345-7347)Cag>Aag	p.Q2449K	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.Q1462K|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2449	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGCAACTACTCAGGCAACCAG	0.438000													54	107					2.5401e-28	3.67337e-28	0.139131	1	0
CD4	920	broad.mit.edu	37	12	6923458	6923458	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr12:6923458T>C	ENST00000011653.4	+	4	623	c.365T>C	c.(364-366)gTg>gCg	p.V122A	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Missense_Mutation_p.V67A	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	122	Ig-like V-type.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				CAATTGCTAGTGTTCGGATGT	0.517000													24	30					0	0	0.083992	0	0
LILRA6	79168	broad.mit.edu	37	19	54742891	54742891	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:54742891C>A	ENST00000396365.2	-	8	1423	c.1384G>T	c.(1384-1386)Ggg>Tgg	p.G462W	LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.G445W|LILRA6_ENST00000391735.3_Intron	NM_024318.2	NP_077294.2			leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6									p.G462W(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AACAGAATCCCGAGGAACACC	0.577000													20	93					2.39556e-15	3.14941e-15	0.076483	1	0
EMILIN2	84034	broad.mit.edu	37	18	2847877	2847877	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr18:2847877C>A	ENST00000254528.3	+	2	364	c.205C>A	c.(205-207)Cag>Aag	p.Q69K		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	69	EMI.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GAGTTTTATTCAGGCTCAGTA	0.647000													16	37					3.32936e-07	3.74802e-07	0.038395	1	0
NECAP2	55707	broad.mit.edu	37	1	16778419	16778419	+	Silent	SNP	A	A	T	rs5772666		TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:16778419A>T	ENST00000337132.5	+	6	666	c.576A>T	c.(574-576)ccA>ccT	p.P192P	NECAP2_ENST00000504551.2_Silent_p.P131P|NECAP2_ENST00000457722.2_Silent_p.P166P|NECAP2_ENST00000406746.1_Silent_p.P192P|NECAP2_ENST00000443980.2_Silent_p.P192P	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	192				P -> S (in Ref. 2; BAG63581).	endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCTCCCCCAGGGGGGAAAA	0.622000													30	68					0	0	0.125774	0	0
PHF3	23469	broad.mit.edu	37	6	64422791	64422791	+	Silent	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr6:64422791C>T	ENST00000262043.3	+	16	5647	c.5307C>T	c.(5305-5307)aaC>aaT	p.N1769N	PHF3_ENST00000393387.1_Silent_p.N1769N			Q92576	PHF3_HUMAN	PHD finger protein 3	1769					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAGTTGGAAACACATGTCCAT	0.423000													33	68					0	0	0.054565	0	0
BRSK2	9024	broad.mit.edu	37	11	1464822	1464822	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr11:1464822T>C	ENST00000308219.9	+	8	1123	c.737T>C	c.(736-738)cTg>cCg	p.L246P	BRSK2_ENST00000528710.1_Missense_Mutation_p.L186P|BRSK2_ENST00000526678.1_Missense_Mutation_p.L246P|BRSK2_ENST00000382179.1_Missense_Mutation_p.L292P|BRSK2_ENST00000528841.1_Missense_Mutation_p.L246P|BRSK2_ENST00000544817.1_5'UTR|BRSK2_ENST00000308230.5_Missense_Mutation_p.L246P|BRSK2_ENST00000531197.1_Missense_Mutation_p.L246P	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	246	Protein kinase.				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TGCCAGAGTCTGCTACGGGGC	0.706000													7	8					0	0	0.058154	0	0
LPPR5	163404	broad.mit.edu	37	1	99387536	99387536	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:99387536C>G	ENST00000370188.3	-	4	1060	c.700G>C	c.(700-702)Gca>Cca	p.A234P	LPPR5_ENST00000263177.4_Missense_Mutation_p.A234P	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		234						integral to membrane	hydrolase activity										GTAAGAAATGCCAAACACATT	0.383000													19	54					0	0	0.043863	0	0
OR11H1	81061	broad.mit.edu	37	22	16449114	16449114	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr22:16449114C>A	ENST00000252835.4	-	1	691	c.691G>T	c.(691-693)Gga>Tga	p.G231*		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		GTATAGGATCCAATAATAAAG	0.428000													54	142					2.2129e-31	3.27579e-31	0.139131	1	0
MAST3	23031	broad.mit.edu	37	19	18255920	18255920	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:18255920G>T	ENST00000262811.5	+	23	2833	c.2833G>T	c.(2833-2835)Ggc>Tgc	p.G945C	AC007192.6_ENST00000600364.1_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	945							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CCCCGTGTGTGGCAGCCTGCG	0.667000													59	82					6.3091e-27	8.98569e-27	0.139131	1	0
CLEC4C	170482	broad.mit.edu	37	12	7894063	7894063	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr12:7894063C>A	ENST00000542353.1	-	4	679	c.189G>T	c.(187-189)caG>caT	p.Q63H	CLEC4C_ENST00000354629.5_Missense_Mutation_p.Q32H|CLEC4C_ENST00000540085.1_Missense_Mutation_p.Q32H|CLEC4C_ENST00000360345.3_Missense_Mutation_p.Q63H	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	63					innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		TTGGATGATACTGTTGATACT	0.418000													33	72					9.45814e-24	1.32696e-23	0.074837	1	0
SEZ6	124925	broad.mit.edu	37	17	27287897	27287897	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr17:27287897C>A	ENST00000317338.12	-	6	1763	c.1335G>T	c.(1333-1335)tgG>tgT	p.W445C	SEZ6_ENST00000442608.3_Missense_Mutation_p.W445C|SEZ6_ENST00000360295.9_Missense_Mutation_p.W445C|SEZ6_ENST00000335960.6_Missense_Mutation_p.W445C|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	445	CUB 1.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CCTCAAGCAGCCAGTGACAGG	0.602000													44	125					5.34276e-22	7.38557e-22	0.139131	1	0
ZCCHC5	203430	broad.mit.edu	37	X	77912927	77912927	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chrX:77912927G>A	ENST00000321110.1	-	2	1286	c.991C>T	c.(991-993)Caa>Taa	p.Q331*		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	331							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TGGCAGAGTTGATGGATGCAC	0.468000													17	4					0	0	0.033300	0	0
SMPD4	55627	broad.mit.edu	37	2	130912768	130912768	+	Missense_Mutation	SNP	C	C	G	rs138491461		TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr2:130912768C>G	ENST00000409031.1	-	15	2619	c.1471G>C	c.(1471-1473)Gcg>Ccg	p.A491P	SMPD4_ENST00000431183.2_Missense_Mutation_p.A389P|SMPD4_ENST00000453750.1_Missense_Mutation_p.A240P|SMPD4_ENST00000426662.2_Missense_Mutation_p.A127P|SMPD4_ENST00000452225.2_Missense_Mutation_p.A232P|SMPD4_ENST00000443958.2_Missense_Mutation_p.A155P|SMPD4_ENST00000339679.7_Missense_Mutation_p.A349P|SMPD4_ENST00000351288.6_Missense_Mutation_p.A462P	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	452					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GTGCGGAGCGCGCGGTTCAGA	0.602000													17	43					0	0	0.146539	0	0
SLC6A1	6529	broad.mit.edu	37	3	11059634	11059634	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr3:11059634T>A	ENST00000287766.4	+	4	765	c.344T>A	c.(343-345)gTa>gAa	p.V115E	SLC6A1_ENST00000536032.1_Intron|SLC6A1-AS1_ENST00000414969.2_RNA	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	115					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	GGGCTAGGGGTATGGAAGCTG	0.597000													42	94					0	0	0.124865	0	0
AP3S2	10239	broad.mit.edu	37	15	90378752	90378752	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr15:90378752C>T	ENST00000336418.4	-	6	969	c.577G>A	c.(577-579)Gtc>Atc	p.V193I	AP3S2_ENST00000560940.1_Intron|AP3S2_ENST00000558011.1_Missense_Mutation_p.V205I|C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.V394I	NM_005829.4	NP_005820.1			adaptor-related protein complex 3, sigma 2 subunit											NS(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(1)	6	Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			GATCCTCAGACAAACTGGGAC	0.468000													64	129					0	0	0.139131	0	0
PHF8	23133	broad.mit.edu	37	X	54040885	54040885	+	Silent	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chrX:54040885G>A	ENST00000338154.6	-	7	1212	c.708C>T	c.(706-708)ctC>ctT	p.L236L	PHF8_ENST00000338946.6_Silent_p.L236L|PHF8_ENST00000357988.5_Silent_p.L272L|PHF8_ENST00000322659.8_Silent_p.L236L	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	272	JmjC.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GCACACTCATGAGGCAGTACT	0.478000													33	12					0	0	0.050027	0	0
GLP2R	9340	broad.mit.edu	37	17	9774129	9774129	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr17:9774129G>C	ENST00000262441.5	+	10	1635	c.1122G>C	c.(1120-1122)atG>atC	p.M374I	GLP2R_ENST00000574745.1_Missense_Mutation_p.M194I	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	374					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	CTCATCAAATGTGCTTCAGAG	0.413000													64	106					0	0	0.139131	0	0
USH2A	7399	broad.mit.edu	37	1	215824106	215824106	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:215824106C>G	ENST00000366943.2	-	65	14557	c.14171G>C	c.(14170-14172)aGc>aCc	p.S4724T	USH2A_ENST00000307340.3_Missense_Mutation_p.S4724T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4724	Fibronectin type-III 32.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCATGTCCAGCTACTGGGGGC	0.512000										HNSCC(13;0.011)			56	127					0	0	0.139131	0	0
VRTN	55237	broad.mit.edu	37	14	74824076	74824076	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr14:74824076A>T	ENST00000256362.4	+	2	831	c.590A>T	c.(589-591)aAg>aTg	p.K197M		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	197					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CGCAACCTCAAGATCCGGCCC	0.622000													33	58					0	0	0.045705	0	0
NCOR1	9611	broad.mit.edu	37	17	15950288	15950288	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr17:15950288G>C	ENST00000268712.3	-	42	6913	c.6656C>G	c.(6655-6657)tCt>tGt	p.S2219C	NCOR1_ENST00000395857.3_Missense_Mutation_p.S803C|NCOR1_ENST00000395851.1_Missense_Mutation_p.S2116C	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2219	ID2 (By similarity).|Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ACCTCCACCAGAGGAGTTCAA	0.398000													6	91					0	0	0.021553	0	0
TMEM66	51669	broad.mit.edu	37	8	29931542	29931542	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr8:29931542G>C	ENST00000256255.6	-	2	390	c.133C>G	c.(133-135)Ctt>Gtt	p.L45V	TMEM66_ENST00000536273.1_Intron|TMEM66_ENST00000521083.1_5'UTR|TMEM66_ENST00000545648.1_5'UTR	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN	transmembrane protein 66	45						integral to membrane				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		TGGAGGGTAAGAGCTTTTACA	0.473000													35	69					0	0	0.069456	0	0
OR51M1	390059	broad.mit.edu	37	11	5410885	5410885	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr11:5410885G>T	ENST00000328611.3	+	1	279	c.257G>T	c.(256-258)tGt>tTt	p.C86F	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	86						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGGCTGTGTGTGTCCACG	0.473000													48	89					1.61863e-15	2.15817e-15	0.139131	1	0
ZSCAN1	284312	broad.mit.edu	37	19	58565111	58565111	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:58565111T>A	ENST00000282326.1	+	6	1166	c.919T>A	c.(919-921)Ttc>Atc	p.F307I		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	307					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGTCACCCACTTCATCGAGCA	0.632000													24	56					0	0	0.076483	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58596165	58596165	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:58596165C>A	ENST00000240727.6	-	7	1819	c.1420G>T	c.(1420-1422)Gcc>Tcc	p.A474S	ZSCAN18_ENST00000601144.1_Missense_Mutation_p.A474S|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.A530S|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.A338S	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	474					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGGCCCCGGGCGCCCCCCAGC	0.716000													3	6					0.004672	0.00487964	0.115264	1	0
ASB5	140458	broad.mit.edu	37	4	177143562	177143562	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr4:177143562C>G	ENST00000296525.3	-	3	399	c.286G>C	c.(286-288)Gta>Cta	p.V96L	ASB5_ENST00000511879.1_5'UTR|ASB5_ENST00000512254.1_Missense_Mutation_p.V43L	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	96					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		ACTGCATTTACATTATAACCC	0.398000													23	32					0	0	0.083992	0	0
APAF1	317	broad.mit.edu	37	12	99076942	99076942	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr12:99076942G>A	ENST00000357310.1	+	15	2645	c.2068G>A	c.(2068-2070)Gaa>Aaa	p.E690K	APAF1_ENST00000550527.1_Missense_Mutation_p.E679K|APAF1_ENST00000551964.1_Missense_Mutation_p.E690K|APAF1_ENST00000339433.3_Missense_Mutation_p.E690K|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000359972.2_Missense_Mutation_p.E679K|APAF1_ENST00000547045.1_Missense_Mutation_p.E690K|APAF1_ENST00000549007.1_Missense_Mutation_p.E690K|APAF1_ENST00000552268.1_Intron	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	690					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TATGACTGGGGAACTAGTACA	0.403000													36	47					0	0	0.059317	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31485720	31485720	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr16:31485720A>G	ENST00000394863.3	+	6	593	c.463A>G	c.(463-465)Act>Gct	p.T155A	TGFB1I1_ENST00000567607.1_Missense_Mutation_p.T138A|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.T138A|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.T138A	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	155	Interaction with PTK2B.|Transcription activation (By similarity).				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						CACCTCAGCCACTCTGGAGCT	0.582000													28	42					0	0	0.125774	0	0
CACNA2D1	781	broad.mit.edu	37	7	81612643	81612643	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr7:81612643C>G	ENST00000356860.3	-	23	2219	c.1881G>C	c.(1879-1881)aaG>aaC	p.K627N	CACNA2D1_ENST00000356253.5_Intron	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	644						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TCATTTTGCCCTTTTTTGCTG	0.338000													6	19					0	0	0.021553	0	0
GLI3	2737	broad.mit.edu	37	7	42005278	42005278	+	Silent	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr7:42005278C>A	ENST00000395925.3	-	15	3477	c.3393G>T	c.(3391-3393)gcG>gcT	p.A1131A	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1131					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GCAGCCCGGGCGCGTCAAAGT	0.637000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				54	112					1.27862e-28	1.86341e-28	0.139131	1	0
EXT1	2131	broad.mit.edu	37	8	119122794	119122794	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr8:119122794G>C	ENST00000378204.2	-	1	1298	c.492C>G	c.(490-492)gaC>gaG	p.D164E		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	164			D -> H (in EXT1; loss of activity).		glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GTGACAACTGGTCTCTGTCTA	0.463000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				66	112					0	0	0.139131	0	0
ZBTB33	10009	broad.mit.edu	37	X	119387407	119387407	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chrX:119387407A>T	ENST00000326624.2	+	2	365	c.137A>T	c.(136-138)cAc>cTc	p.H46L	ZBTB33_ENST00000557385.1_Missense_Mutation_p.H46L	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	46	BTB.|Interaction with NCOR1.|Self-association (By similarity).				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTCCGGGCTCACAAGAATATT	0.453000													117	63					0	0	0.139131	0	0
HNRNPA1	3178	broad.mit.edu	37	12	54677000	54677000	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr12:54677000G>T	ENST00000340913.6	+	8	942	c.889G>T	c.(889-891)Ggc>Tgc	p.G297C	HNRNPA1_ENST00000330752.8_Intron|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000547276.1_Intron|HNRNPA1_ENST00000546500.1_Intron	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	297	Gly-rich.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						AGGCGGAGGCGGCTTTGGCGG	0.527000													8	18					0.000157383	0.000169075	0.038147	1	0
DES	1674	broad.mit.edu	37	2	220285261	220285261	+	Silent	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr2:220285261G>A	ENST00000373960.3	+	4	866	c.780G>A	c.(778-780)caG>caA	p.Q260Q		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	260	Linker 12.|Rod.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		AGCAGGTCCAGGTGGAGATGG	0.582000													20	23					0	0	0.049695	0	0
LILRP2	79166	broad.mit.edu	37	19	55220839	55220839	+	RNA	SNP	T	T	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:55220839T>A	ENST00000413439.1	+	0	828																											GAAAACCCACTCTCTCAGCCC	0.537000													5	27					0	0	0.047766	0	0
THSD7B	80731	broad.mit.edu	37	2	138163263	138163263	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr2:138163263G>T	ENST00000409968.1	+	13	2759	c.2581G>T	c.(2581-2583)Gtg>Ttg	p.V861L	THSD7B_ENST00000272643.3_Missense_Mutation_p.V861L|THSD7B_ENST00000413152.2_Missense_Mutation_p.V830L|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCCTCTCCTTGTGCAAGAATG	0.493000													10	36					0.000442599	0.000472777	0.058154	1	0
AHNAK2	113146	broad.mit.edu	37	14	105408344	105408344	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr14:105408344T>A	ENST00000333244.5	-	7	13563	c.13444A>T	c.(13444-13446)Atc>Ttc	p.I4482F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4482						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAGACCTCGATGGACTTGCCT	0.562000													109	193					0	0	0.139131	0	0
PEX1	5189	broad.mit.edu	37	7	92147523	92147523	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr7:92147523C>A	ENST00000248633.4	-	4	499	c.404G>T	c.(403-405)cGa>cTa	p.R135L	PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Missense_Mutation_p.R135L	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	135					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	p.R135L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AAAAACTATTCGAATTTGATC	0.348000													29	47					1.22384e-17	1.65526e-17	0.054565	1	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632000													6	61					0	0	0.029380	0	0
ITPR3	3710	broad.mit.edu	37	6	33608316	33608316	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr6:33608316C>T	ENST00000374316.5	+	3	1205	c.145C>T	c.(145-147)Cct>Tct	p.P49S	ITPR3_ENST00000605930.1_Missense_Mutation_p.P49S			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	49					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GGACAACCCCCCTAAGAAGTT	0.612000													59	136					0	0	0.139131	0	0
C7orf60	154743	broad.mit.edu	37	7	112579784	112579784	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr7:112579784G>C	ENST00000297145.4	-	1	187	c.22C>G	c.(22-24)Cga>Gga	p.R8G		NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	8										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						GCAGTATTTCGGCCGCCGGCC	0.721000													18	22					0	0	0.033300	0	0
PNPLA1	285848	broad.mit.edu	37	6	36269663	36269663	+	Silent	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr6:36269663C>T	ENST00000394571.2	+	6	801	c.801C>T	c.(799-801)tcC>tcT	p.S267S	PNPLA1_ENST00000312917.5_Silent_p.S181S|PNPLA1_ENST00000388715.3_Silent_p.S172S	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	267					lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						ATTCTTCCTCCAAGAGAGTGA	0.498000											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	58					0	0	0.069288	0	0
GALC	2581	broad.mit.edu	37	14	88417089	88417089	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr14:88417089G>A	ENST00000261304.2	-	11	1271	c.1165C>T	c.(1165-1167)Cat>Tat	p.H389Y	GALC_ENST00000393569.2_Missense_Mutation_p.H363Y|GALC_ENST00000393568.4_Missense_Mutation_p.H366Y|GALC_ENST00000544807.2_Missense_Mutation_p.H333Y	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	389					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAATGTTTATGACTCTGAAAA	0.313000													13	23					0	0	0.093190	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074431	76074431	+	RNA	SNP	C	C	T	rs149323153	by1000genomes	TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr15:76074431C>T	ENST00000395215.3	+	0	610																		p.S190L(2)									CTCCAGTCCTCGAGCTGCAGA	0.547000													8	43					0	0	0.069234	0	0
FLCN	201163	broad.mit.edu	37	17	17119768	17119768	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr17:17119768T>A	ENST00000285071.4	-	11	1680	c.1226A>T	c.(1225-1227)tAc>tTc	p.Y409F	RP11-45M22.4_ENST00000427497.3_3'UTR	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	409					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGCCTCCTCGTACTGGCTGCT	0.667000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				10	18					0	0	0.058154	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58596514	58596514	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:58596514C>A	ENST00000240727.6	-	7	1470	c.1071G>T	c.(1069-1071)caG>caT	p.Q357H	ZSCAN18_ENST00000601144.1_Missense_Mutation_p.Q357H|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.Q413H|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.Q221H	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	357					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCGGGGCAGGCTGCTGGATGA	0.701000													9	16					7.03913e-09	8.37567e-09	0.093190	1	0
PEG3	5178	broad.mit.edu	37	19	57327218	57327218	+	Nonsense_Mutation	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:57327218A>T	ENST00000326441.9	-	10	2955	c.2592T>A	c.(2590-2592)taT>taA	p.Y864*	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Nonsense_Mutation_p.Y738*|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Nonsense_Mutation_p.Y864*|PEG3_ENST00000598410.1_Nonsense_Mutation_p.Y740*|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	864					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGTCTGAGATATAAATGGAGG	0.428000													31	64					0	0	0.054565	0	0
GIT2	9815	broad.mit.edu	37	12	110370853	110370853	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr12:110370853T>C	ENST00000360185.4	-	19	2224	c.2060A>G	c.(2059-2061)cAg>cGg	p.Q687R	GIT2_ENST00000361006.5_Missense_Mutation_p.Q707R|GIT2_ENST00000354574.4_Missense_Mutation_p.Q659R|GIT2_ENST00000355312.3_Missense_Mutation_p.Q737R|GIT2_ENST00000343646.5_Missense_Mutation_p.Q627R|GIT2_ENST00000551209.1_Missense_Mutation_p.Q686R|TCHP_ENST00000550780.1_3'UTR|GIT2_ENST00000356259.4_Missense_Mutation_p.Q624R|GIT2_ENST00000338373.5_Missense_Mutation_p.Q639R|GIT2_ENST00000553118.1_Missense_Mutation_p.Q609R|GIT2_ENST00000457474.2_Missense_Mutation_p.Q659R			Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	737					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						GTACGCACACTGGATGACCTG	0.592000													13	30					0	0	0.105934	0	0
EIF6	3692	broad.mit.edu	37	20	33867858	33867858	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr20:33867858G>A	ENST00000374450.3	-	5	697	c.433C>T	c.(433-435)Cag>Tag	p.Q145*	EIF6_ENST00000374443.3_Nonsense_Mutation_p.Q126*|EIF6_ENST00000374436.3_Nonsense_Mutation_p.Q145*	NM_002212.3	NP_002203.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 6	145					mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			ACTAGCACCTGGTCGGCCACT	0.488000													220	85					0	0	0.139131	0	0
ZNF195	7748	broad.mit.edu	37	11	3380864	3380864	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr11:3380864C>G	ENST00000354599.6	-	4	1262	c.1158G>C	c.(1156-1158)agG>agC	p.R386S	ZNF195_ENST00000526601.1_Missense_Mutation_p.R439S|ZNF195_ENST00000429541.2_Missense_Mutation_p.R390S|ZNF195_ENST00000343338.7_Missense_Mutation_p.R390S|ZNF195_ENST00000399602.4_Missense_Mutation_p.R458S|ZNF195_ENST00000005082.9_Missense_Mutation_p.R435S|ZNF195_ENST00000528796.1_Intron	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	458				Missing (in Ref. 2; BAD18466).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		CGGTGTGAATCCTCCTGTGTT	0.423000													43	54					0	0	0.111260	0	0
MAN2C1	4123	broad.mit.edu	37	15	75655060	75655060	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr15:75655060T>A	ENST00000565683.1	-	7	831	c.820A>T	c.(820-822)Agg>Tgg	p.R274W	MAN2C1_ENST00000563622.1_Intron|MAN2C1_ENST00000267978.5_Missense_Mutation_p.R274W|MAN2C1_ENST00000569482.1_Missense_Mutation_p.R274W|MAN2C1_ENST00000563539.1_5'UTR	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	274					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GCACATTTCCTCACAGTCTCT	0.617000													11	25					0	0	0.093190	0	0
RYR1	6261	broad.mit.edu	37	19	38939306	38939306	+	Silent	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:38939306C>A	ENST00000355481.4	+	11	1106	c.975C>A	c.(973-975)gcC>gcA	p.A325A	RYR1_ENST00000360985.3_Silent_p.A325A|RYR1_ENST00000359596.3_Silent_p.A325A	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	325	MIR 4.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGGATGTGGCCCCCAAGCGGG	0.632000													7	85					0.00198382	0.00208356	0.029380	1	0
FMN2	56776	broad.mit.edu	37	1	240371099	240371099	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:240371099G>C	ENST00000319653.9	+	5	3217	c.2987G>C	c.(2986-2988)gGc>gCc	p.G996A		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	996	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCGGAGCGGGCATACCCCCT	0.711000													4	27					0	0	0.009096	0	0
AACS	65985	broad.mit.edu	37	12	125621282	125621282	+	Missense_Mutation	SNP	C	C	G	rs141114409		TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr12:125621282C>G	ENST00000316519.6	+	17	1959	c.1753C>G	c.(1753-1755)Ctc>Gtc	p.L585V	AACS_ENST00000261686.6_Intron|AACS_ENST00000545511.1_Intron|AACS_ENST00000543665.1_Intron|AACS_ENST00000316543.10_Missense_Mutation_p.L183V|AACS_ENST00000398953.2_3'UTR	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	585					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GAGGGTGATCCTCTTCCTGAA	0.592000													21	48					0	0	0.069288	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74622818	74622818	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr17:74622818G>A	ENST00000156626.7	-	5	1425	c.1226C>T	c.(1225-1227)tCc>tTc	p.S409F		NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	409					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GCCGTAGAAGGATGTCCGAGT	0.527000													127	248					0	0	0.139131	0	0
SCN5A	6331	broad.mit.edu	37	3	38616901	38616901	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr3:38616901G>T	ENST00000413689.1	-	20	3746	c.3553C>A	c.(3553-3555)Cag>Aag	p.Q1185K	SCN5A_ENST00000443581.1_Missense_Mutation_p.Q1184K|SCN5A_ENST00000449557.2_Missense_Mutation_p.Q1131K|SCN5A_ENST00000423572.2_Missense_Mutation_p.Q1184K|SCN5A_ENST00000425664.1_Missense_Mutation_p.Q1185K|SCN5A_ENST00000414099.2_Missense_Mutation_p.Q1185K|SCN5A_ENST00000450102.2_Missense_Mutation_p.Q1131K|SCN5A_ENST00000451551.2_Missense_Mutation_p.Q1131K|SCN5A_ENST00000455624.2_Missense_Mutation_p.Q1184K|SCN5A_ENST00000333535.4_Missense_Mutation_p.Q1185K	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1185					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CCTGGGGCCTGTGTGGTGTCC	0.592000													9	9					7.48243e-07	8.37319e-07	0.058154	1	0
BTAF1	9044	broad.mit.edu	37	10	93767940	93767940	+	Silent	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr10:93767940C>A	ENST00000265990.6	+	26	4029	c.3721C>A	c.(3721-3723)Cga>Aga	p.R1241R	BTAF1_ENST00000544642.1_Silent_p.R69R	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1241					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				AGCCAAGGAGCGACACTTTTT	0.343000													46	86					4.10826e-27	5.89583e-27	0.139131	1	0
CACNG7	59284	broad.mit.edu	37	19	54416105	54416105	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:54416105G>T	ENST00000391767.1	+	2	232	c.20G>T	c.(19-21)cGc>cTc	p.R7L	CACNG7_ENST00000222212.2_Missense_Mutation_p.R7L|CACNG7_ENST00000391766.1_Missense_Mutation_p.R7L|CACNG7_ENST00000468076.1_Intron			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	7					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TGCAGCAGCCGCGCCCTGACC	0.632000													25	49					7.01153e-11	8.61548e-11	0.125774	1	0
CSN1S1	1446	broad.mit.edu	37	4	70808280	70808280	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr4:70808280C>A	ENST00000246891.4	+	14	436	c.387C>A	c.(385-387)aaC>aaA	p.N129K	CSN1S1_ENST00000505782.1_Missense_Mutation_p.N113K|CSN1S1_ENST00000507772.1_Missense_Mutation_p.N121K|CSN1S1_ENST00000507763.1_Missense_Mutation_p.N120K|CSN1S1_ENST00000444405.3_Missense_Mutation_p.N120K	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	129						extracellular region	protein binding|transporter activity			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						TGAATGAAAACAGCCATGTCC	0.323000													3	4					0.115264	0.11777	0.115264	1	0
LDLR	3949	broad.mit.edu	37	19	11238726	11238726	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:11238726G>T	ENST00000558518.1	+	16	2541	c.2354G>T	c.(2353-2355)aGt>aTt	p.S785I	LDLR_ENST00000557933.1_Missense_Mutation_p.S785I|LDLR_ENST00000545707.1_Missense_Mutation_p.S607I|LDLR_ENST00000558013.1_Missense_Mutation_p.S785I|LDLR_ENST00000455727.2_Missense_Mutation_p.S617I|LDLR_ENST00000560628.1_Intron|LDLR_ENST00000535915.1_Missense_Mutation_p.S744I	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	785					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	AAGAAGCCCAGTAGCGTGAGG	0.612000													40	58					4.17593e-13	5.23384e-13	0.098360	1	0
CSMD3	114788	broad.mit.edu	37	8	113988167	113988167	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr8:113988167C>A	ENST00000297405.5	-	7	1485	c.1241G>T	c.(1240-1242)gGg>gTg	p.G414V	CSMD3_ENST00000343508.3_Missense_Mutation_p.G374V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G414V|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	414						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGGAGAGAGCCCGTCCTTGGA	0.473000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			61	94					4.88506e-25	6.90519e-25	0.139131	1	0
OR14C36	127066	broad.mit.edu	37	1	248512689	248512689	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:248512689G>T	ENST00000317861.1	+	1	613	c.613G>T	c.(613-615)Ggt>Tgt	p.G205C		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TCTGGGGGTAGGTGGCGGCTG	0.478000													28	103					1.39806e-14	1.80024e-14	0.134883	1	0
KNDC1	85442	broad.mit.edu	37	10	135003264	135003264	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr10:135003264G>A	ENST00000304613.3	+	9	1543	c.1522G>A	c.(1522-1524)Gac>Aac	p.D508N	KNDC1_ENST00000368571.2_Missense_Mutation_p.D443N|KNDC1_ENST00000368572.2_Missense_Mutation_p.D508N			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	508	KIND 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AGGTTCCTATGACTCGTTCTT	0.642000													10	28					0	0	0.069234	0	0
ARAP3	64411	broad.mit.edu	37	5	141051832	141051832	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr5:141051832C>A	ENST00000239440.4	-	10	1487	c.1422G>T	c.(1420-1422)tgG>tgT	p.W474C	ARAP3_ENST00000508305.1_Missense_Mutation_p.W396C|ARAP3_ENST00000513878.1_Missense_Mutation_p.W136C	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	474	PH 2.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GAGCGGCCGCCCAGCTCTGCC	0.632000													37	77					2.04263e-09	2.44596e-09	0.069456	1	0
CDH5	1003	broad.mit.edu	37	16	66437039	66437039	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr16:66437039C>A	ENST00000341529.3	+	12	2470	c.2322C>A	c.(2320-2322)taC>taA	p.Y774*	CDH5_ENST00000539168.1_Nonsense_Mutation_p.Y213*	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	774					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CTGAGCTGTACGGCTCGGACC	0.637000													4	16					0.014758	0.0151612	0.014758	1	0
EPO	2056	broad.mit.edu	37	7	100320640	100320640	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr7:100320640C>T	ENST00000252723.2	+	5	647	c.466C>T	c.(466-468)Cca>Tca	p.P156S		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	156					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	CTCAGCTGCTCCACTCCGAAC	0.557000													70	134					0	0	0.139131	0	0
SIRPB1	10326	broad.mit.edu	37	20	1600516	1600516	+	Splice_Site	SNP	T	T	G			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr20:1600516T>G	ENST00000381605.4	-	1	139	c.76_splice	c.e1+1	p.T25_splice	SIRPB1_ENST00000381603.3_Splice_Site_p.T25_splice|SIRPB1_ENST00000568365.1_Splice_Site_p.T25_splice|RP4-576H24.4_ENST00000564763.1_Splice_Site_p.T25_splice|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000279477.7_Splice_Site_p.T25_splice	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	25					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						AGTGCTCACCTGTGAGTCTCC	0.567000													25	69					0	0	0.108266	0	0
LINGO3	645191	broad.mit.edu	37	19	2290056	2290056	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:2290056C>A	ENST00000585527.1	-	1	1967	c.1720G>T	c.(1720-1722)Ggg>Tgg	p.G574W	LINGO3_ENST00000404279.1_Missense_Mutation_p.G574W			P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	574						integral to membrane				lung(1)|urinary_tract(1)	2						gcggccggcccATCCACCTTG	0.682000													4	4					0.000602214	0.00063964	0.014758	1	0
FSHR	2492	broad.mit.edu	37	2	49217720	49217720	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr2:49217720A>T	ENST00000406846.2	-	5	550	c.431T>A	c.(430-432)cTc>cAc	p.L144H	FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000346173.3_Missense_Mutation_p.L144H|FSHR_ENST00000304421.4_Missense_Mutation_p.L144H|FSHR_ENST00000541117.1_5'UTR	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	144					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	AACTTTTTGGAGAGAATGAAT	0.383000									Gonadal Dysgenesis, 46 XX				29	67					0	0	0.125774	0	0
TCFL5	10732	broad.mit.edu	37	20	61488943	61488943	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr20:61488943G>A	ENST00000335351.3	-	4	1134	c.1042C>T	c.(1042-1044)Cgt>Tgt	p.R348C	TCFL5_ENST00000217162.5_Missense_Mutation_p.R300C	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	348	R3 epitope (recognized by Chagas's antibodies).				cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity	p.R348C(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					TCCAACTGACGCATTCTACTC	0.463000													40	278					0	0	0.098360	0	0
LECT1	11061	broad.mit.edu	37	13	53286940	53286940	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr13:53286940G>T	ENST00000448904.2	-	5	643	c.533C>A	c.(532-534)cCt>cAt	p.P178H	LECT1_ENST00000377962.3_Missense_Mutation_p.P178H	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	178	BRICHOS.				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		GTCCTTCACAGGCTGATCTAC	0.403000													41	88					9.62906e-15	1.24846e-14	0.086207	1	0
BTAF1	9044	broad.mit.edu	37	10	93767954	93767954	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr10:93767954G>C	ENST00000265990.6	+	26	4043	c.3735G>C	c.(3733-3735)gaG>gaC	p.E1245D	BTAF1_ENST00000544642.1_Missense_Mutation_p.E73D	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1245					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ACTTTTTGGAGCAATTGTTAG	0.338000													37	73					0	0	0.098360	0	0
CRYGC	1420	broad.mit.edu	37	2	208994322	208994322	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr2:208994322C>A	ENST00000282141.3	-	2	132	c.95G>T	c.(94-96)cGc>cTc	p.R32L		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	32	Beta/gamma crystallin 'Greek key' 1.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GGAGTTGCAGCGGCTGAAATA	0.582000													59	113					2.08403e-16	2.79855e-16	0.139131	1	0
C17orf53	78995	broad.mit.edu	37	17	42230076	42230076	+	Silent	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr17:42230076G>T	ENST00000319977.4	+	5	1617	c.1380G>T	c.(1378-1380)acG>acT	p.T460T	C17orf53_ENST00000585683.1_Silent_p.T460T|C17orf53_ENST00000245382.6_Intron	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	460										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TGAAATCCACGCTAGGCCTGG	0.562000													40	54					4.01765e-15	5.24527e-15	0.111260	1	0
XDH	7498	broad.mit.edu	37	2	31621491	31621491	+	Silent	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr2:31621491C>A	ENST00000379416.3	-	5	429	c.381G>T	c.(379-381)ctG>ctT	p.L127L		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	127					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GATTCCGGAGCAGTGTGTACA	0.547000													51	91					2.81731e-22	3.92336e-22	0.139131	1	0
OR5A1	219982	broad.mit.edu	37	11	59210760	59210760	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr11:59210760C>A	ENST00000302030.2	+	1	144	c.119C>A	c.(118-120)aCc>aAc	p.T40N		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						ATCTATCTTACCACCCTGGCC	0.502000													53	96					2.31418e-15	3.06385e-15	0.139131	1	0
CASC3	22794	broad.mit.edu	37	17	38319155	38319155	+	Splice_Site	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr17:38319155G>T	ENST00000264645.7	+	6	1011		c.e6+1			NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3						mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GGAAACCCCGGTGAGGACATT	0.517000													25	38					4.72057e-08	5.44459e-08	0.091800	1	0
VGLL3	389136	broad.mit.edu	37	3	87017927	87017927	+	Silent	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr3:87017927A>T	ENST00000398399.2	-	3	1113	c.750T>A	c.(748-750)ccT>ccA	p.P250P	VGLL3_ENST00000383698.3_Silent_p.P250P	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CAGAGCCAGCAGGAGggtggt	0.587000													21	32					0	0	0.055883	0	0
FAM27L	284123	broad.mit.edu	37	17	21826310	21826310	+	RNA	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr17:21826310C>A	ENST00000426869.3	+	0	493					NR_028336.1				family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		AACAAGTTACCCTTTTGGCAC	0.572000													14	20					0.000151284	0.000163457	0.105934	1	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													4	56					0	0	0.009096	0	0
DSG2	1829	broad.mit.edu	37	18	29125825	29125825	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr18:29125825T>G	ENST00000261590.8	+	15	2685	c.2476T>G	c.(2476-2478)Tta>Gta	p.L826V	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	826					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TGACCGCTTCTTAGATGATTT	0.383000													10	98					0	0	0.069234	0	0
ABCB1	5243	broad.mit.edu	37	7	87214992	87214992	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr7:87214992C>A	ENST00000265724.3	-	5	539	c.122G>T	c.(121-123)cGc>cTc	p.R41L	ABCB1_ENST00000543898.1_Missense_Mutation_p.R41L	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	41					G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.R41H(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	ATTTGAATAGCGAAACTAAAA	0.378000													15	40					6.31663e-08	7.19713e-08	0.132662	1	0
MNS1	55329	broad.mit.edu	37	15	56726471	56726471	+	Silent	SNP	A	A	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr15:56726471A>T	ENST00000260453.3	-	8	1298	c.1134T>A	c.(1132-1134)acT>acA	p.T378T	TEX9_ENST00000352903.2_Intron|TEX9_ENST00000537232.1_Intron	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	378					meiosis					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		TAGCTAGCATAGTTTTTCTAA	0.383000													48	89					0	0	0.139131	0	0
MMD	23531	broad.mit.edu	37	17	53485141	53485141	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr17:53485141T>A	ENST00000262065.3	-	4	606	c.310A>T	c.(310-312)Atc>Ttc	p.I104F		NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN	monocyte to macrophage differentiation-associated	104					cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAGAAATAGATAACCATTCTA	0.383000													20	33					0	0	0.108266	0	0
SPTAN1	6709	broad.mit.edu	37	9	131371243	131371243	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr9:131371243G>A	ENST00000358161.5	+	35	4695	c.4582G>A	c.(4582-4584)Gag>Aag	p.E1528K	SPTAN1_ENST00000372731.4_Missense_Mutation_p.E1528K|SPTAN1_ENST00000372739.3_Missense_Mutation_p.E1528K			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1528					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCGGCGCAATGAGGTCTTGGA	0.572000													20	158					0	0	0.049695	0	0
SFXN1	94081	broad.mit.edu	37	5	174938509	174938509	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr5:174938509G>T	ENST00000321442.5	+	5	744	c.490G>T	c.(490-492)Gga>Tga	p.G164*	SFXN1_ENST00000502393.1_Nonsense_Mutation_p.G164*	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	164					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AACAGCTCTAGGACTCAATGC	0.413000													69	146					3.82405e-32	5.70573e-32	0.139131	1	0
CR1	1378	broad.mit.edu	37	1	207782718	207782718	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:207782718G>T	ENST00000367049.4	+	37	5980	c.5980G>T	c.(5980-5982)Gta>Tta	p.V1994L	CR1_ENST00000367053.1_Missense_Mutation_p.V1544L|CR1_ENST00000400960.2_Missense_Mutation_p.V1544L|CR1_ENST00000367051.1_Missense_Mutation_p.V1544L|CR1_ENST00000367052.1_Missense_Mutation_p.V1544L	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1544					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGGAACGGTGGTAACTTACCA	0.448000													24	77					1.64293e-13	2.07296e-13	0.083992	1	0
ZMYND19	116225	broad.mit.edu	37	9	140476996	140476996	+	Nonstop_Mutation	SNP	C	C	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr9:140476996C>A	ENST00000298585.2	-	6	909	c.683G>T	c.(682-684)tGa>tTa	p.*228L		NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	0						Golgi apparatus|plasma membrane	zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CCCTGCCCGTCATCGCTCTGG	0.617000													16	42					2.23348e-06	2.45553e-06	0.146539	1	0
TMEM132E	124842	broad.mit.edu	37	17	32957120	32957120	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr17:32957120G>T	ENST00000321639.5	+	6	1490	c.1162G>T	c.(1162-1164)Gac>Tac	p.D388Y		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	388						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCTCGTCCTGGACATCTCCGC	0.582000													6	38					8.12818e-05	8.83294e-05	0.029380	1	0
ADAMTS17	170691	broad.mit.edu	37	15	100636675	100636675	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr15:100636675C>T	ENST00000268070.4	-	15	2128	c.2023G>A	c.(2023-2025)Ggc>Agc	p.G675S		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	675	Cys-rich.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CCGTCACAGCCGATTTTCTAA	0.542000													52	106					0	0	0.139131	0	0
HAPLN1	1404	broad.mit.edu	37	5	82948298	82948298	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr5:82948298G>A	ENST00000274341.4	-	3	1296	c.446C>T	c.(445-447)aCt>aTt	p.T149I	HAPLN1_ENST00000514416.1_Missense_Mutation_p.T149I	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	149	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.T149I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		TACCACAACAGTATCATCTTC	0.378000													51	107					0	0	0.139131	0	0
VEZF1	7716	broad.mit.edu	37	17	56060517	56060517	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr17:56060517G>A	ENST00000584396.1	-	2	332	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	VEZF1_ENST00000581208.1_Missense_Mutation_p.R91C			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	91					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GATTCGTGGCGCCTCAGGTGA	0.493000													10	109					0	0	0.058154	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140736604	140736604	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr5:140736604G>T	ENST00000571252.1	+	1	1837	c.1837G>T	c.(1837-1839)Gag>Tag	p.E613*	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGTCCAGCGAGCCGGGACT	0.622000													35	66					2.20474e-14	2.81966e-14	0.064281	1	0
NLRP5	126206	broad.mit.edu	37	19	56539033	56539033	+	Silent	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:56539033C>T	ENST00000390649.3	+	7	1434	c.1434C>T	c.(1432-1434)tgC>tgT	p.C478C		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	478	NACHT.					mitochondrion|nucleolus	ATP binding	p.C478C(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTCTCATCTGCGTGGCCCTGC	0.617000													9	25					0	0	0.058154	0	0
PNPLA6	10908	broad.mit.edu	37	19	7620649	7620649	+	Splice_Site	SNP	G	G	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:7620649G>C	ENST00000221249.6	+	27	3410	c.2979_splice	c.e27+1	p.K993_splice	PNPLA6_ENST00000450331.3_Splice_Site_p.K993_splice|PNPLA6_ENST00000414982.3_Splice_Site_p.K1041_splice|PNPLA6_ENST00000545201.2_Splice_Site_p.K966_splice|PNPLA6_ENST00000600737.1_Splice_Site_p.K1031_splice	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1032	Patatin.				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						AGTGGGCCAAGGTGTGTGTTG	0.652000													18	35					0	0	0.055883	0	0
MGAM	8972	broad.mit.edu	37	7	141770842	141770842	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr7:141770842C>T	ENST00000475668.2	+	44	5164	c.5110C>T	c.(5110-5112)Ctt>Ttt	p.L1704F	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1704	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCCAGCCCCTCTTGACCACAT	0.527000													21	43					0	0	0.062417	0	0
LAMB3	3914	broad.mit.edu	37	1	209789849	209789850	+	Frame_Shift_Ins	INS	-	-	A			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr1:209789849_209789850insA	ENST00000391911.1	-	21	3737_3738	c.3348_3349insT	c.(3346-3351)ttgggafs	p.L1116fs	LAMB3_ENST00000356082.4_Frame_Shift_Ins_p.L1116fs|LAMB3_ENST00000367030.3_Frame_Shift_Ins_p.L1116fs	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	1116	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		ATGGTCTCCCCAAACAGCTCCT	0.545													80	296	---	---	---	---					
UGP2	7360	broad.mit.edu	37	2	64084969	64084969	+	Frame_Shift_Del	DEL	A	A	-			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr2:64084969delA	ENST00000337130.5	+	3	630	c.154delA	c.(154-156)aafs	p.K53fs	UGP2_ENST00000445915.2_Frame_Shift_Del_p.K62fs|UGP2_ENST00000394417.2_Frame_Shift_Del_p.K42fs|UGP2_ENST00000467648.2_Frame_Shift_Del_p.K42fs|UGP2_ENST00000487469.1_Intron	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	53					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						ACAGCACACCAAAAAAGACCT	0.358													7	380	---	---	---	---					
SATB1	6304	broad.mit.edu	37	3	18436169	18436180	+	In_Frame_Del	DEL	ACTGCTGGTTCA	ACTGCTGGTTCA	-			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr3:18436169_18436180delACTGCTGGTTCA	ENST00000338745.6	-	7	2714_2725	c.980_991delTGAACCAGCAGT	c.(979-993)cat>c	p.LNQQY327del	SATB1_ENST00000454909.2_In_Frame_Del_p.LNQQY327del|SATB1_ENST00000417717.2_In_Frame_Del_p.LNQQY327del|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	327					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TTCACTGCATACTGCTGGTTCAGCAGCTGAGC	0.505													29	96	---	---	---	---					
PBX2P1	5088	broad.mit.edu	37	3	142895155	142895155	+	RNA	DEL	C	C	-			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr3:142895155delC	ENST00000560287.1	+	0	29																											GGCCTCAGGGCCCCCCCCCAG	0.746													3	4	---	---	---	---					
NMUR2	56923	broad.mit.edu	37	5	151784497	151784497	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr5:151784497delC	ENST00000255262.3	-	1	343	c.178delG	c.(178-180)tcfs	p.V60fs	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	60					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			TTGCCAATGACCCCCACCACA	0.577													28	50	---	---	---	---					
HLA-DRB6	3128	broad.mit.edu	37	6	32523273	32523274	+	RNA	DEL	GA	GA	-			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr6:32523273_32523274delGA	ENST00000411500.1	-	0	458					NR_001298.1																						ATTCCACTGTGAGAGGGCTCAT	0.396													5	9	---	---	---	---					
AARS2	57505	broad.mit.edu	37	6	44278144	44278144	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr6:44278144delC	ENST00000244571.4	-	5	788	c.786delG	c.(784-786)cgfs	p.R262fs		NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	262					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	TGTCCACATGCCGCTGGGGCA	0.607													7	34	---	---	---	---					
C10orf25	220979	broad.mit.edu	37	10	45496165	45496165	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr10:45496165delG	ENST00000298298.1	-	1	171	c.143delC	c.(142-144)cafs	p.P48fs	ZNF22_ENST00000298299.3_5'UTR	NM_001039380.2	NP_001034469.2	Q5T742	CJ025_HUMAN	chromosome 10 open reading frame 25	48						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6						GCTAGAGTTTGGTTTCAAAAG	0.483													15	28	---	---	---	---					
KRT73	319101	broad.mit.edu	37	12	53012229	53012229	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr12:53012229delC	ENST00000305748.3	-	1	114	c.80delG	c.(79-81)gcfs	p.G27fs		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	27	Gly-rich.|Head.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGATGAGCTGCCCCCTGAGAG	0.632													54	88	---	---	---	---					
HAL	3034	broad.mit.edu	37	12	96388596	96388604	+	Splice_Site	DEL	TGCTGTATC	TGCTGTATC	-	rs147252912		TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr12:96388596_96388604delTGCTGTATC	ENST00000261208.3	-	4	677_684	c.308_splice	c.e4-1	p.L103_splice	HAL_ENST00000541929.1_5'UTR|HAL_ENST00000538703.1_Splice_Site_p.L103_splice	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	103					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	TCCCGGTACTTGCTGTATCTGTATCCAGG	0.483													37	107	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	by1000genomes	TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													2	4	---	---	---	---					
MED16	10025	broad.mit.edu	37	19	889717	889717	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:889717delC	ENST00000312090.6	-	4	518	c.368delG	c.(367-369)gcfs	p.G123fs	MED16_ENST00000606828.1_Intron|MED16_ENST00000395808.3_Frame_Shift_Del_p.G123fs|MED16_ENST00000589119.1_Frame_Shift_Del_p.G123fs|MED16_ENST00000269814.4_Frame_Shift_Del_p.G123fs|MED16_ENST00000325464.1_Frame_Shift_Del_p.G123fs			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	123					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACTAGGCTGCCCACTGAGCT	0.627													15	15	---	---	---	---					
STK11	6794	broad.mit.edu	37	19	1220432	1220432	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:1220432delG	ENST00000326873.7	+	4	1698	c.525delG	c.(523-525)aafs	p.K175fs		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	175	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.Y156fs*87(4)|p.?(4)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGTGCACAAGGACATCAAGC	0.657		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			7	7	---	---	---	---					
ZNF28	7576	broad.mit.edu	37	19	53303512	53303512	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:53303512delC	ENST00000438150.2	-	2	2320	c.1427delG	c.(1426-1428)gcfs	p.G476fs	ZNF28_ENST00000360272.4_Frame_Shift_Del_p.G476fs|ZNF28_ENST00000457749.2_Frame_Shift_Del_p.G529fs|ZNF28_ENST00000414252.2_Frame_Shift_Del_p.G476fs			P17035	ZNF28_HUMAN	zinc finger protein 28	529					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		AAAAACCTTGCCACATTCATT	0.388													46	106	---	---	---	---					
USP29	57663	broad.mit.edu	37	19	57640737	57640738	+	Frame_Shift_Ins	INS	-	-	C			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chr19:57640737_57640738insC	ENST00000254181.4	+	4	1148_1149	c.694_695insC	c.(694-696)taafs	p.*232fs	USP29_ENST00000598197.1_Frame_Shift_Ins_p.*232fs	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	232					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAATACCAACTGTAATGGAAAT	0.396													45	93	---	---	---	---					
RBM10	8241	broad.mit.edu	37	X	47032582	47032582	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7537-01A-11D-2063-08	TCGA-78-7537-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1220499d-62a1-40da-8414-5d0f27af11ee	e1fbf46c-f8bd-4cfc-83f2-b369ada74987	g.chrX:47032582delG	ENST00000377604.3	+	5	1230	c.488delG	c.(487-489)cgfs	p.R163fs	RBM10_ENST00000329236.7_Frame_Shift_Del_p.R86fs|RBM10_ENST00000345781.6_Frame_Shift_Del_p.R86fs|RBM10_ENST00000468791.1_3'UTR	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	163	RRM 1.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CGGCTGATGCGGAACAAATCT	0.602													19	7	---	---	---	---					
