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
ST18	9705	broad.mit.edu	37	8	53084452	53084452	+	Silent	SNP	G	G	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr8:53084452G>T	ENST00000276480.7	-	10	1652	c.969C>A	c.(967-969)acC>acA	p.T323T		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	323						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GCTCTTTGTAGGTGTTATGGA	0.483000													22	151					3.5997e-14	4.83388e-14	0.014323	1	0
UNC13C	440279	broad.mit.edu	37	15	54557651	54557651	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr15:54557651A>G	ENST00000545554.1	+	9	3775	c.3775A>G	c.(3775-3777)Att>Gtt	p.I1259V	UNC13C_ENST00000260323.11_Missense_Mutation_p.I1259V|UNC13C_ENST00000537900.1_Missense_Mutation_p.I1257V			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1259	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AACAAAAACCATTTTTGGAAA	0.308000													3	13					0	0	0.004672	0	0
MATR3	9782	broad.mit.edu	37	5	138643962	138643962	+	Silent	SNP	G	G	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr5:138643962G>A	ENST00000394800.2	+	6	1407	c.858G>A	c.(856-858)ccG>ccA	p.P286P	MATR3_ENST00000504203.1_Intron|MATR3_ENST00000502929.1_Silent_p.P286P|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000394805.3_Silent_p.P286P|MATR3_ENST00000361059.2_Silent_p.P286P|MATR3_ENST00000510056.1_Silent_p.P286P|MATR3_ENST00000509990.1_Silent_p.P286P|MATR3_ENST00000503811.1_Intron			P43243	MATR3_HUMAN	matrin 3	286						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GACTCTTACCGAAGGGTTATC	0.428000													104	327					0	0	0.014410	0	0
PCDHA10	56139	broad.mit.edu	37	5	140236705	140236705	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr5:140236705G>T	ENST00000307360.5	+	1	1072	c.1072G>T	c.(1072-1074)Gtg>Ttg	p.V358L	PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.V358L|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_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)			GTCTCTCCCAGTGAAAGAAGA	0.507000													9	7					1.76689e-08	2.08653e-08	0.006214	1	0
ASXL3	80816	broad.mit.edu	37	18	31324856	31324856	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr18:31324856G>T	ENST00000269197.5	+	12	5044	c.5044G>T	c.(5044-5046)Gac>Tac	p.D1682Y		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1682					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTTTAGAATGGACACTGAAGA	0.488000													11	40					9.70103e-10	1.20621e-09	0.008291	1	0
IL3RA	3563	broad.mit.edu	37	X	1499950	1499950	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chrX:1499950C>G	ENST00000331035.4	+	11	1364	c.1015C>G	c.(1015-1017)Cct>Gct	p.P339A	IL3RA_ENST00000381469.2_Missense_Mutation_p.P261A	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	339						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TCCCCGCATCCCTCACATGAA	0.537000													14	81					0	0	0.004007	0	0
ABCA13	154664	broad.mit.edu	37	7	48315097	48315097	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr7:48315097G>T	ENST00000435803.1	+	17	5858	c.5834G>T	c.(5833-5835)aGt>aTt	p.S1945I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1945					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTCTGTCCTAGTGGTTCCATA	0.338000													29	117					1.04121e-07	1.21734e-07	0.005443	1	0
EHHADH	1962	broad.mit.edu	37	3	184910074	184910074	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr3:184910074C>A	ENST00000231887.3	-	7	2187	c.2112G>T	c.(2110-2112)caG>caT	p.Q704H	EHHADH_ENST00000456310.1_Missense_Mutation_p.Q608H	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	704						peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	p.Q704H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	GAGGGTTTCCCTGAGAAGCCA	0.463000													37	132					4.44401e-20	6.60977e-20	0.010771	1	0
CYP8B1	1582	broad.mit.edu	37	3	42916064	42916064	+	Silent	SNP	C	C	G	rs147356860		TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr3:42916064C>G	ENST00000316161.4	-	1	1569	c.1245G>C	c.(1243-1245)cgG>cgC	p.R415R	KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Silent_p.R415R|ACKR2_ENST00000471537.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	415					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		AGTCCACTTTCCGGCTGCCAT	0.562000													33	179					0	0	0.005524	0	0
XIRP1	165904	broad.mit.edu	37	3	39229587	39229587	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr3:39229587C>G	ENST00000340369.3	-	2	1578	c.1350G>C	c.(1348-1350)ttG>ttC	p.L450F	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.L450F	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	450							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CAATGCTGTCCAAGGGAAGGG	0.557000													70	220					0	0	0.014410	0	0
LOC645752	645752	broad.mit.edu	37	15	78211580	78211580	+	RNA	SNP	G	G	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr15:78211580G>T	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TCCACCTCCTGCCTCAGGTGT	0.542000													8	43					0.000157383	0.000172024	0.003080	1	0
KIF2B	84643	broad.mit.edu	37	17	51902076	51902076	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr17:51902076C>A	ENST00000268919.4	+	1	1838	c.1682C>A	c.(1681-1683)gCa>gAa	p.A561E		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	561					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGACATGAGGCACCAAGGATG	0.383000													37	122					3.54909e-21	5.31233e-21	0.011902	1	0
ZNF292	23036	broad.mit.edu	37	6	87967629	87967629	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr6:87967629T>G	ENST00000369577.3	+	8	4325	c.4282T>G	c.(4282-4284)Tcc>Gcc	p.S1428A	ZNF292_ENST00000339907.4_Missense_Mutation_p.S1423A	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CATGATTCTCTCCACAAATGC	0.418000													21	220					0	0	0.004656	0	0
JPH2	57158	broad.mit.edu	37	20	42788290	42788290	+	Silent	SNP	G	G	A	rs143158930		TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr20:42788290G>A	ENST00000372980.3	-	2	2009	c.1137C>T	c.(1135-1137)atC>atT	p.I379I		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	379	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCTGGCGCGCGATAGCAGCGG	0.672000													4	23					0	0	0.009096	0	0
SMC6	79677	broad.mit.edu	37	2	17865019	17865019	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr2:17865019T>A	ENST00000448223.2	-	24	2959	c.2690A>T	c.(2689-2691)gAa>gTa	p.E897V	SMC6_ENST00000381272.4_Missense_Mutation_p.E923V|SMC6_ENST00000351948.4_Missense_Mutation_p.E897V|SMC6_ENST00000402989.1_Missense_Mutation_p.E897V	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	897					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTCTCTTGCTTCTTGGTACTG	0.318000													48	141					0	0	0.014410	0	0
ACBD6	84320	broad.mit.edu	37	1	180257631	180257631	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr1:180257631T>A	ENST00000367595.3	-	8	1403	c.716A>T	c.(715-717)gAt>gTt	p.D239V	ACBD6_ENST00000475338.2_5'UTR	NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6	239						cytoplasm|nucleus	fatty-acyl-CoA binding		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						CTCTACAATATCCAGAAACTC	0.483000													4	33					0	0	0.014758	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													3	36					0	0	0.004672	0	0
DCC	1630	broad.mit.edu	37	18	50705456	50705456	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr18:50705456C>G	ENST00000442544.2	+	9	2159	c.1543C>G	c.(1543-1545)Caa>Gaa	p.Q515E	DCC_ENST00000581580.1_Missense_Mutation_p.Q170E|DCC_ENST00000412726.1_Missense_Mutation_p.Q363E	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	515	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGAGAGTTCTCAACCCATCAA	0.473000													4	75					0	0	0.014758	0	0
ABCB5	340273	broad.mit.edu	37	7	20687597	20687597	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr7:20687597A>T	ENST00000404938.2	+	11	1754	c.1102A>T	c.(1102-1104)Agt>Tgt	p.S368C	ABCB5_ENST00000406935.1_5'UTR|ABCB5_ENST00000258738.6_5'UTR|ABCB5_ENST00000477094.1_3'UTR|ABCB5_ENST00000443026.2_5'UTR	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	552	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CAAGAAACCCAGTATAGATAA	0.313000													17	46					0	0	0.008871	0	0
PLCL2	23228	broad.mit.edu	37	3	17053164	17053164	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr3:17053164G>T	ENST00000418129.2	+	2	2413	c.1948G>T	c.(1948-1950)Ggt>Tgt	p.G650C	PLCL2_ENST00000432376.1_Missense_Mutation_p.G650C|PLCL2_ENST00000396755.2_Missense_Mutation_p.G650C	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	776	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						AGGTGCCAAAGGTGATGTGGT	0.458000													15	52					1.99824e-07	2.32468e-07	0.004990	1	0
C2orf78	388960	broad.mit.edu	37	2	74044001	74044001	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr2:74044001G>C	ENST00000409561.1	+	3	2772	c.2651G>C	c.(2650-2652)aGa>aCa	p.R884T		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	884										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						GCCATGAAGAGAAAGGCTCAA	0.493000													6	22					0	0	0.003080	0	0
TFDP3	51270	broad.mit.edu	37	X	132351570	132351570	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chrX:132351570C>A	ENST00000310125.4	-	1	806	c.718G>T	c.(718-720)Gag>Tag	p.E240*		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	240	DCB1 (By similarity).|Involved in negatively regulating E2F activity.					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					CTGACCTGCTCCTCCACATAC	0.483000													40	37					1.48734e-19	2.18453e-19	0.013114	1	0
RAB28	9364	broad.mit.edu	37	4	13462328	13462328	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr4:13462328T>C	ENST00000288723.4	-	4	600	c.386A>G	c.(385-387)aAt>aGt	p.N129S	RAB28_ENST00000330852.5_Missense_Mutation_p.N129S|RAB28_ENST00000338176.4_Missense_Mutation_p.N129S	NM_004249.3	NP_004240.2	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family	129					small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						CTTACTTTTATTGCCTACCAA	0.398000													64	186					0	0	0.014410	0	0
DCBLD2	131566	broad.mit.edu	37	3	98518498	98518498	+	Silent	SNP	G	G	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr3:98518498G>A	ENST00000326840.6	-	16	2408	c.2046C>T	c.(2044-2046)atC>atT	p.I682I	DCBLD2_ENST00000326857.9_Silent_p.I696I	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	682					cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						ACATGTCCATGATGATTGGGG	0.522000													29	295					0	0	0.008361	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173891853	173891853	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr2:173891853G>C	ENST00000264111.6	+	25	2608	c.2421G>C	c.(2419-2421)aaG>aaC	p.K807N	RAPGEF4_ENST00000539331.1_Missense_Mutation_p.K655N|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.K637N|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.K588N|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.K655N|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.K808N|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.K808N|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.K664N			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	808	Ras-GEF.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			ATTTTAAAAAGACCACAGCAA	0.358000													14	168					0	0	0.003163	0	0
C2orf78	388960	broad.mit.edu	37	2	74043580	74043580	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr2:74043580C>T	ENST00000409561.1	+	3	2351	c.2230C>T	c.(2230-2232)Cgt>Tgt	p.R744C		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	744										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TCTAGCCTCACGTAGGCCTGC	0.537000													48	186					0	0	0.014410	0	0
JAKMIP2	9832	broad.mit.edu	37	5	146997552	146997552	+	Silent	SNP	C	C	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr5:146997552C>T	ENST00000265272.5	-	19	2735	c.2268G>A	c.(2266-2268)cgG>cgA	p.R756R	JAKMIP2_ENST00000507386.1_Silent_p.R735R|JAKMIP2_ENST00000333010.6_Silent_p.R714R	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	756						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGCATTTGCCGCCGTAACT	0.458000													5	190					0	0	0.014758	0	0
ASXL3	80816	broad.mit.edu	37	18	31324855	31324855	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr18:31324855G>T	ENST00000269197.5	+	12	5043	c.5043G>T	c.(5041-5043)atG>atT	p.M1681I		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1681					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCTTTAGAATGGACACTGAAG	0.483000													11	40					5.16669e-11	6.59876e-11	0.010729	1	0
KRT14	3861	broad.mit.edu	37	17	39739372	39739372	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr17:39739372G>A	ENST00000167586.6	-	7	1381	c.1295C>T	c.(1294-1296)tCc>tTc	p.S432F		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	432	Interaction with Type I keratins and keratin filaments.|Tail.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				CGATCCAGAGGAGAACTGGGA	0.577000													11	55					0	0	0.010729	0	0
DRD1	1812	broad.mit.edu	37	5	174869675	174869675	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr5:174869675A>G	ENST00000393752.2	-	2	1420	c.428T>C	c.(427-429)cTg>cCg	p.L143P		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	143					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	CACACTGATCAGGATGAAGGC	0.537000													3	95					0	0	0.009096	0	0
SLC4A1	6521	broad.mit.edu	37	17	42335048	42335048	+	Silent	SNP	C	C	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr17:42335048C>T	ENST00000262418.6	-	12	1565	c.1410G>A	c.(1408-1410)gtG>gtA	p.V470V		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	470	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CTTCCTCAAACACCAGCAGGG	0.617000													10	19					0	0	0.008291	0	0
OR10G2	26534	broad.mit.edu	37	14	22102088	22102088	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr14:22102088A>T	ENST00000542433.1	-	1	1008	c.911T>A	c.(910-912)cTg>cAg	p.L304Q		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TATCCTCTTCAGGGCAGACTT	0.473000													17	86					0	0	0.010504	0	0
RELN	5649	broad.mit.edu	37	7	103275910	103275910	+	Silent	SNP	G	G	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr7:103275910G>T	ENST00000428762.1	-	19	2586	c.2427C>A	c.(2425-2427)ctC>ctA	p.L809L	RELN_ENST00000343529.5_Silent_p.L809L|RELN_ENST00000424685.2_Silent_p.L809L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	809					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AATGCTCCAGGAGTTTCCAAG	0.428000													48	143					7.34454e-26	1.13551e-25	0.014410	1	0
NMS	129521	broad.mit.edu	37	2	101098755	101098755	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr2:101098755A>G	ENST00000376865.1	+	9	438	c.431A>G	c.(430-432)aAc>aGc	p.N144S		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	144					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						AATGGAAGAAACATTGAAGAT	0.423000													33	184					0	0	0.005524	0	0
CFHR5	81494	broad.mit.edu	37	1	196965270	196965270	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr1:196965270G>T	ENST00000367414.5	+	6	1037	c.981G>T	c.(979-981)atG>atT	p.M327I	CFHR5_ENST00000256785.4_Missense_Mutation_p.M303I	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	303					complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AATATGCAATGATTGGAAATA	0.368000													40	196					8.16277e-20	1.20645e-19	0.006999	1	0
CREBBP	1387	broad.mit.edu	37	16	3778569	3778569	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr16:3778569G>A	ENST00000262367.5	-	31	7288	c.6479C>T	c.(6478-6480)gCg>gTg	p.A2160V	CREBBP_ENST00000382070.3_Missense_Mutation_p.A2122V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2160					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCCTCCCATCGCCTGCTGCTG	0.612000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						7	15					0	0	0.003080	0	0
KTN1	3895	broad.mit.edu	37	14	56101267	56101267	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr14:56101267T>A	ENST00000416613.1	+	8	1424	c.1352T>A	c.(1351-1353)cTa>cAa	p.L451Q	KTN1_ENST00000395308.1_Missense_Mutation_p.L451Q|KTN1_ENST00000395309.3_Missense_Mutation_p.L451Q|KTN1_ENST00000438792.2_Missense_Mutation_p.L451Q|KTN1_ENST00000395311.1_Missense_Mutation_p.L451Q|KTN1_ENST00000395314.3_Missense_Mutation_p.L451Q|KTN1_ENST00000413890.2_Missense_Mutation_p.L451Q			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	451					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						CTAAATAAACTACGCCAGGAT	0.383000			T	RET	papillary thryoid								34	97					0	0	0.006999	0	0
FLNA	2316	broad.mit.edu	37	X	153587758	153587758	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chrX:153587758C>A	ENST00000422373.1	-	25	4407	c.4159G>T	c.(4159-4161)Ggc>Tgc	p.G1387C	FLNA_ENST00000360319.4_Missense_Mutation_p.G1387C|FLNA_ENST00000344736.4_Missense_Mutation_p.G1387C|FLNA_ENST00000369850.3_Missense_Mutation_p.G1387C	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1387					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGCCCAGGCCGCCCGTGCCA	0.652000													7	6					8.12818e-05	8.96772e-05	0.001984	1	0
MDGA2	161357	broad.mit.edu	37	14	47389255	47389255	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr14:47389255G>T	ENST00000426342.1	-	10	2050	c.1304C>A	c.(1303-1305)gCa>gAa	p.A435E	MDGA2_ENST00000399232.2_Missense_Mutation_p.A733E|MDGA2_ENST00000357362.3_Missense_Mutation_p.A435E|MDGA2_ENST00000439988.2_Missense_Mutation_p.A664E	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	664	Ig-like 4.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CCGATCCACTGCATCAGGATT	0.428000													24	93					8.58068e-18	1.23709e-17	0.007291	1	0
HEATR1	55127	broad.mit.edu	37	1	236762789	236762789	+	Silent	SNP	T	T	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr1:236762789T>A	ENST00000366582.3	-	4	609	c.495A>T	c.(493-495)ccA>ccT	p.P165P	HEATR1_ENST00000483073.1_5'UTR|HEATR1_ENST00000366581.2_Silent_p.P165P	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	165					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ATACCTTAACTGGCAACAACC	0.353000													10	83					0	0	0.013537	0	0
COL7A1	1294	broad.mit.edu	37	3	48604138	48604138	+	Silent	SNP	C	C	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr3:48604138C>A	ENST00000328333.8	-	111	8366	c.8259G>T	c.(8257-8259)gtG>gtT	p.V2753V	COL7A1_ENST00000454817.1_Silent_p.V2721V	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2753	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAGGAGCCCCCACCACTCTCT	0.637000													35	78					1.66251e-12	2.17049e-12	0.014410	1	0
C15orf41	84529	broad.mit.edu	37	15	37100680	37100680	+	Silent	SNP	G	G	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr15:37100680G>T	ENST00000563167.1	+	2	318	c.159G>T	c.(157-159)ctG>ctT	p.L53L	C15orf41_ENST00000562489.1_3'UTR|C15orf41_ENST00000569302.1_3'UTR|C15orf41_ENST00000567389.1_3'UTR|C15orf41_ENST00000566621.1_3'UTR|C15orf41_ENST00000437989.2_3'UTR|C15orf41_ENST00000565792.1_3'UTR|CSNK1A1P1_ENST00000430593.3_RNA|C15orf41_ENST00000338183.4_3'UTR			Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	0							protein binding			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		AAGAGAAGCTGGGAGGAAAAG	0.507000													7	14					0.000157383	0.000172024	0.003080	1	0
SCN2A	6326	broad.mit.edu	37	2	166179748	166179748	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr2:166179748A>G	ENST00000375437.2	+	12	2044	c.1754A>G	c.(1753-1755)aAg>aGg	p.K585R	SCN2A_ENST00000375427.2_Missense_Mutation_p.K585R|SCN2A_ENST00000357398.3_Missense_Mutation_p.K585R|SCN2A_ENST00000283256.6_Missense_Mutation_p.K585R	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	585					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GGTCGAGCAAAGGACATTGGC	0.498000													39	114					0	0	0.010771	0	0
NCOA6	23054	broad.mit.edu	37	20	33334660	33334660	+	Silent	SNP	G	G	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr20:33334660G>A	ENST00000374796.2	-	11	5435	c.2865C>T	c.(2863-2865)aaC>aaT	p.N955N	NCOA6_ENST00000359003.2_Silent_p.N955N			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	955	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.		N -> S (in dbSNP:rs17092079).		brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						AGTTATCCAAGTTAATTCCTT	0.413000													6	162					0	0	0.001984	0	0
CYYR1	116159	broad.mit.edu	37	21	27840897	27840897	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr21:27840897G>A	ENST00000299340.4	-	4	731	c.388C>T	c.(388-390)Cct>Tct	p.P130S	AP001596.6_ENST00000429340.1_RNA|CYYR1_ENST00000435845.2_3'UTR|AP001596.6_ENST00000444306.1_RNA|AP001597.1_ENST00000357401.3_RNA|AP001597.1_ENST00000414486.1_RNA|AP001596.6_ENST00000421771.1_RNA	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	130						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GAGTATGGAGGAGGCAAGTCT	0.512000													8	322					0	0	0.006214	0	0
FLT1	2321	broad.mit.edu	37	13	28877390	28877390	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr13:28877390G>T	ENST00000282397.4	-	30	4182	c.3931C>A	c.(3931-3933)Cac>Aac	p.H1311N	FLT1_ENST00000543394.1_Missense_Mutation_p.H334N|FLT1_ENST00000540678.1_Missense_Mutation_p.H529N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1311					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AGCTCAGCGTGGTCGTAGGTG	0.577000													55	226					8.52529e-16	1.18547e-15	0.014410	1	0
CDH9	1007	broad.mit.edu	37	5	26906096	26906096	+	Silent	SNP	G	G	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr5:26906096G>A	ENST00000231021.4	-	5	955	c.783C>T	c.(781-783)gtC>gtT	p.V261V		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	261	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GGTTGTTGTTGACATCTGTCA	0.448000													91	294					0	0	0.014410	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27538273	27538273	+	RNA	SNP	G	G	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr10:27538273G>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TTTGAATGCTGAGCCCGACCC	0.517000													23	49					1.22574e-08	1.46217e-08	0.014323	1	0
EIF5B	9669	broad.mit.edu	37	2	99995879	99995879	+	Silent	SNP	G	G	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr2:99995879G>A	ENST00000289371.5	+	12	2251	c.2049G>A	c.(2047-2049)aaG>aaA	p.K683K		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	683					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AACAGACTAAGATGATTAAAA	0.348000													4	101					0	0	0.009096	0	0
SQRDL	58472	broad.mit.edu	37	15	45965940	45965940	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr15:45965940G>T	ENST00000260324.7	+	5	981	c.595G>T	c.(595-597)Gtg>Ttg	p.V199L	SQRDL_ENST00000568606.1_Missense_Mutation_p.V199L|RP11-96O20.4_ENST00000564080.1_Missense_Mutation_p.V199L	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	199							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		AAATACTCCAGTGAAGTGTGC	0.473000													17	64					3.99206e-14	5.3303e-14	0.007413	1	0
CYB5R4	51167	broad.mit.edu	37	6	84645991	84645991	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr6:84645991C>T	ENST00000369681.4	+	12	1144	c.1004C>T	c.(1003-1005)tCa>tTa	p.S335L	CYB5R4_ENST00000479164.1_3'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	335	FAD-binding FR-type.				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		TCCTTACTCTCAGAGTTCAAG	0.338000													14	78					0	0	0.003163	0	0
DSC2	1824	broad.mit.edu	37	18	28672144	28672144	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr18:28672144T>C	ENST00000280904.6	-	3	717	c.274A>G	c.(274-276)Aga>Gga	p.R92G	DSC2_ENST00000251081.6_Missense_Mutation_p.R92G	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	92					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GTAAAACTTCTCTTCTCCGAG	0.338000													29	121					0	0	0.007291	0	0
ZFR	51663	broad.mit.edu	37	5	32387678	32387678	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr5:32387678C>G	ENST00000265069.8	-	14	2578	c.2476G>C	c.(2476-2478)Gaa>Caa	p.E826Q		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	826	DZF.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		GGTAGGTTTTCTGCAATACGG	0.408000													25	246					0	0	0.007291	0	0
DOK1	1796	broad.mit.edu	37	2	74783996	74783996	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr2:74783996C>T	ENST00000233668.5	+	5	1870	c.1201C>T	c.(1201-1203)Ccc>Tcc	p.P401S	DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000340004.6_3'UTR|DOK1_ENST00000409429.1_Missense_Mutation_p.P262S	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	401	Pro-rich.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CTATGAGCTCCCCTACAACCC	0.647000													35	132					0	0	0.019004	0	0
MPL	4352	broad.mit.edu	37	1	43805736	43805736	+	Silent	SNP	C	C	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr1:43805736C>A	ENST00000372470.3	+	5	834	c.792C>A	c.(790-792)tcC>tcA	p.S264S	MPL_ENST00000413998.2_Silent_p.S264S	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	264					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATGGGATCTCCCTCGGTGGCT	0.592000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						20	41					1.96292e-10	2.46677e-10	0.010504	1	0
ATP2B3	492	broad.mit.edu	37	X	152826267	152826267	+	Silent	SNP	C	C	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chrX:152826267C>T	ENST00000370186.1	+	17	3257	c.2931C>T	c.(2929-2931)caC>caT	p.H977H	ATP2B3_ENST00000349466.2_Silent_p.H991H|ATP2B3_ENST00000359149.3_Silent_p.H991H|ATP2B3_ENST00000370181.2_Silent_p.H977H|ATP2B3_ENST00000263519.4_Silent_p.H991H|ATP2B3_ENST00000393842.1_Silent_p.H977H|ATP2B3_ENST00000460549.1_3'UTR			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	991					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAAGATCCACGGCGAGAGGA	0.562000													7	50					0	0	0.003080	0	0
NBPF3	84224	broad.mit.edu	37	1	21806573	21806573	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr1:21806573A>G	ENST00000318220.6	+	14	2118	c.1070A>G	c.(1069-1071)gAg>gGg	p.E357G	NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000318249.5_Missense_Mutation_p.E413G			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	413	NBPF 2.					cytoplasm		p.E413G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GATGAGAAAGAGCCTGAAGTC	0.463000													4	181					0	0	0.014758	0	0
ARMC5	79798	broad.mit.edu	37	16	31473869	31473869	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr16:31473869G>A	ENST00000457010.2	+	3	1702	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	ARMC5_ENST00000563544.1_Missense_Mutation_p.R334H|ARMC5_ENST00000538189.1_Missense_Mutation_p.R366H|ARMC5_ENST00000408912.3_Missense_Mutation_p.R429H|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000268314.4_Missense_Mutation_p.R334H	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	334							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CTCCGGCAGCGCCGGGATCCT	0.647000													8	38					0	0	0.008291	0	0
HEMGN	55363	broad.mit.edu	37	9	100700349	100700349	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr9:100700349G>T	ENST00000259456.3	-	2	213	c.70C>A	c.(70-72)Cat>Aat	p.H24N		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	24	Necessary for nuclear localization.				cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				CCTGGAGAATGGTTCTCTTCT	0.408000													60	227					2.23399e-28	3.49992e-28	0.014410	1	0
F13B	2165	broad.mit.edu	37	1	197009738	197009738	+	Silent	SNP	T	T	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr1:197009738T>A	ENST00000367412.1	-	11	1909	c.1866A>T	c.(1864-1866)ccA>ccT	p.P622P	F13B_ENST00000490002.1_5'UTR	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	622	Sushi 10.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						ATAATTCAGCTGGATAAGTAT	0.313000													27	166					0	0	0.004656	0	0
EHBP1	23301	broad.mit.edu	37	2	63101642	63101642	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr2:63101642G>T	ENST00000263991.5	+	11	1747	c.1265G>T	c.(1264-1266)gGa>gTa	p.G422V	EHBP1_ENST00000405015.3_Missense_Mutation_p.G387V|EHBP1_ENST00000354487.3_Missense_Mutation_p.G387V|EHBP1_ENST00000431489.1_Missense_Mutation_p.G387V|EHBP1_ENST00000405289.1_Missense_Mutation_p.G387V	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	422						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GTTTCTGCAGGAAAAGATCTC	0.373000													25	435					1.17739e-12	1.54574e-12	0.005443	1	0
DNAJC6	9829	broad.mit.edu	37	1	65860662	65860662	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr1:65860662C>T	ENST00000395325.3	+	13	1971	c.1814C>T	c.(1813-1815)gCt>gTt	p.A605V	DNAJC6_ENST00000371069.4_Missense_Mutation_p.A662V|DNAJC6_ENST00000263441.7_Missense_Mutation_p.A592V	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	605	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						ACATCCAGTGCTTCCAGTGAC	0.438000													158	530					0	0	0.014410	0	0
EXTL3	2137	broad.mit.edu	37	8	28574377	28574377	+	Silent	SNP	G	G	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr8:28574377G>T	ENST00000220562.4	+	3	1703	c.801G>T	c.(799-801)cgG>cgT	p.R267R	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	267						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CACACTGGCGGACGGATGGAC	0.547000													16	42					1.50039e-11	1.94802e-11	0.012319	1	0
IQCB1	9657	broad.mit.edu	37	3	121509047	121509047	+	Silent	SNP	C	C	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr3:121509047C>T	ENST00000310864.6	-	11	1216	c.1002G>A	c.(1000-1002)aaG>aaA	p.K334K	IQCB1_ENST00000349820.6_Silent_p.K201K	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	334	IQ 2.				cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		CCAGCAACATCTTTGATCGTT	0.353000													40	367					0	0	0.014410	0	0
IGSF10	285313	broad.mit.edu	37	3	151163928	151163928	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr3:151163928C>A	ENST00000282466.3	-	4	3840	c.3841G>T	c.(3841-3843)Gga>Tga	p.G1281*		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1281					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGAAGACTTCCAGGATTGTGT	0.428000													59	194					2.27459e-33	3.66116e-33	0.014410	1	0
HAVCR1	26762	broad.mit.edu	37	5	156479602	156479602	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr5:156479602G>T	ENST00000339252.3	-	3	975	c.443C>A	c.(442-444)aCc>aAc	p.T148N	HAVCR1_ENST00000523175.1_Missense_Mutation_p.T148N|HAVCR1_ENST00000522693.1_Missense_Mutation_p.T148N|HAVCR1_ENST00000425854.1_Missense_Mutation_p.T148N|HAVCR1_ENST00000544197.1_Missense_Mutation_p.T148N	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	148	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGAACAGTGGTGCTCGTTCG	0.478000													167	528					3.86937e-75	6.44895e-75	0.014410	1	0
RPL13AP3	645683	broad.mit.edu	37	14	56233248	56233248	+	RNA	SNP	G	G	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr14:56233248G>T	ENST00000554458.1	+	0	75				RPL13AP3_ENST00000494676.1_RNA																							AAGAAAAAGCGGATGGTGGTT	0.572000													4	9					3.59834e-05	4.04598e-05	0.001168	1	0
KLK5	25818	broad.mit.edu	37	19	51452188	51452188	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr19:51452188G>T	ENST00000336334.3	-	4	871	c.519C>A	c.(517-519)aaC>aaA	p.N173K	KLK5_ENST00000593428.1_Missense_Mutation_p.N173K|KLK5_ENST00000391809.2_Missense_Mutation_p.N173K	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	173	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	p.N173N(1)		NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GAGAGGAGACGTTGATGGGTC	0.537000													6	25					4.096e-09	5.01333e-09	0.001168	1	0
EPHA6	285220	broad.mit.edu	37	3	96945208	96945208	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr3:96945208G>T	ENST00000389672.5	+	4	1253	c.1215G>T	c.(1213-1215)caG>caT	p.Q405H	EPHA6_ENST00000470610.2_Missense_Mutation_p.Q405H	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	310	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CTGTCTGTCAGTGTGAAAAGG	0.398000													46	168					1.63038e-21	2.45602e-21	0.014410	1	0
TNN	63923	broad.mit.edu	37	1	175053017	175053017	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr1:175053017G>T	ENST00000239462.4	+	5	1293	c.1180G>T	c.(1180-1182)Gct>Tct	p.A394S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	394	Fibronectin type-III 2.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACAGGAGGTAGCTGAGGTCAC	0.527000													30	65					1.39806e-14	1.89909e-14	0.008361	1	0
UBC	7316	broad.mit.edu	37	12	125397269	125397269	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr12:125397269G>A	ENST00000536769.1	-	1	2625	c.1049C>T	c.(1048-1050)gCc>gTc	p.A350V	UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Missense_Mutation_p.A350V|UBC_ENST00000546120.1_Missense_Mutation_p.A274V			P0CG48	UBC_HUMAN	ubiquitin C	350	Ubiquitin-like 5.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CTGTTTTCCGGCAAAGATCAA	0.522000													5	255					0	0	0.014758	0	0
CDC23	8697	broad.mit.edu	37	5	137525547	137525547	+	Silent	SNP	G	G	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr5:137525547G>A	ENST00000394886.2	-	14	1503	c.1473C>T	c.(1471-1473)atC>atT	p.I491I		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	491					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGATATATTTGATGTAACACT	0.368000													7	298					0	0	0.004482	0	0
ALS2CL	259173	broad.mit.edu	37	3	46722809	46722809	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr3:46722809G>A	ENST00000318962.4	-	13	1446	c.1363C>T	c.(1363-1365)Cag>Tag	p.Q455*	ALS2CL_ENST00000415953.1_Nonsense_Mutation_p.Q455*	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	455					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CTGAAGGGCTGGGGGGCCTGC	0.662000													21	90					0	0	0.014323	0	0
TTF1	7270	broad.mit.edu	37	9	135278165	135278165	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr9:135278165G>A	ENST00000334270.2	-	2	83	c.44C>T	c.(43-45)tCt>tTt	p.S15F		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	15	N-terminal region (NRD) (By similarity).				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TTTCTTGTCAGAAACTGGAGT	0.353000													5	103					0	0	0.014758	0	0
ATP5B	506	broad.mit.edu	37	12	57039070	57039070	+	Silent	SNP	C	C	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr12:57039070C>A	ENST00000262030.3	-	2	245	c.195G>T	c.(193-195)gcG>gcT	p.A65A	ATP5B_ENST00000552919.1_Silent_p.A65A	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	65					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CGCCAATGACCGCCACGATGC	0.567000													13	29					2.39187e-15	3.28708e-15	0.008871	1	0
RYR1	6261	broad.mit.edu	37	19	38956834	38956834	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr19:38956834C>A	ENST00000355481.4	+	24	3105	c.2974C>A	c.(2974-2976)Cac>Aac	p.H992N	RYR1_ENST00000359596.3_Missense_Mutation_p.H992N|RYR1_ENST00000360985.3_Missense_Mutation_p.H992N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	992	6 X approximate repeats.				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)	AGAAAATGGGCACAACGTGTG	0.667000													4	116					0.014758	0.0154827	0.014758	1	0
KIF1A	547	broad.mit.edu	37	2	241683446	241683446	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr2:241683446T>A	ENST00000498729.2	-	33	3743	c.3497A>T	c.(3496-3498)gAg>gTg	p.E1166V	KIF1A_ENST00000320389.7_Missense_Mutation_p.E1065V	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1065					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTTGATGTACTCAATGAAGGA	0.602000													11	28					0	0	0.013537	0	0
RSPH6A	81492	broad.mit.edu	37	19	46299233	46299233	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr19:46299233A>T	ENST00000221538.3	-	6	2190	c.2048T>A	c.(2047-2049)gTg>gAg	p.V683E	RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_Missense_Mutation_p.V419E	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	683	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CTCCTCTTCCACTGTGGGGTC	0.617000													30	97					0	0	0.019004	0	0
PCDH17	27253	broad.mit.edu	37	13	58208640	58208640	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr13:58208640G>T	ENST00000377918.3	+	1	1986	c.1960G>T	c.(1960-1962)Gac>Tac	p.D654Y		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	654	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TTTCTGGGAGGACGTGACGCC	0.647000													17	59					2.35188e-11	3.03677e-11	0.006122	1	0
NPAP1	23742	broad.mit.edu	37	15	24922899	24922899	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr15:24922899C>A	ENST00000329468.2	+	1	2359	c.1885C>A	c.(1885-1887)Cac>Aac	p.H629N		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		ATTTATATTCCACAATACCAC	0.498000													13	60					1.5842e-08	1.88024e-08	0.016723	1	0
OR8J3	81168	broad.mit.edu	37	11	55904638	55904638	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr11:55904638G>T	ENST00000301529.1	-	1	556	c.557C>A	c.(556-558)gCa>gAa	p.A186E		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GCAAGATAATGCTAACAGAGG	0.313000													13	59					4.36969e-10	5.46211e-10	0.016723	1	0
CCT6B	10693	broad.mit.edu	37	17	33267604	33267604	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr17:33267604G>C	ENST00000314144.5	-	8	1037	c.922C>G	c.(922-924)Cat>Gat	p.H308D	CCT6B_ENST00000436961.3_Missense_Mutation_p.H263D|CCT6B_ENST00000421975.3_Missense_Mutation_p.H271D	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	308					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				ACTATTCCATGTTTTGCAAGA	0.294000													5	121					0	0	0.001168	0	0
OR8J1	219477	broad.mit.edu	37	11	56128288	56128288	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr11:56128288G>T	ENST00000303039.3	+	1	598	c.566G>T	c.(565-567)tGc>tTc	p.C189F		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C189F(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GCATTATCTTGCTCTGATACT	0.313000													30	112					7.26314e-15	9.92348e-15	0.007291	1	0
TRIP11	9321	broad.mit.edu	37	14	92477354	92477354	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr14:92477354C>G	ENST00000267622.4	-	9	1663	c.1290G>C	c.(1288-1290)gaG>gaC	p.E430D		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	430					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GTAATGACTTCTCTTTTTCTA	0.378000			T	PDGFRB	AML								3	78					0	0	0.004672	0	0
SORL1	6653	broad.mit.edu	37	11	121414299	121414299	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr11:121414299C>G	ENST00000260197.7	+	13	1857	c.1728C>G	c.(1726-1728)ttC>ttG	p.F576L	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	576					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CATTCATCTTCTCTGAGAAGC	0.473000													5	247					0	0	0.001168	0	0
OR52R1	119695	broad.mit.edu	37	11	4825678	4825678	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr11:4825678G>C	ENST00000380382.1	-	1	169	c.170C>G	c.(169-171)aCt>aGt	p.T57S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCAAAACAAGTGTTATTATT	0.368000													71	272					0	0	0.014410	0	0
GSDMA	284110	broad.mit.edu	37	17	38127821	38127821	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr17:38127821C>G	ENST00000301659.4	+	5	721	c.603C>G	c.(601-603)tgC>tgG	p.C201W		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	201					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CCAAGGGCTGCGTCCTGGCCT	0.468000													27	91					0	0	0.010818	0	0
CACNA1D	776	broad.mit.edu	37	3	53781379	53781379	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr3:53781379G>T	ENST00000288139.3	+	27	3396	c.3278G>T	c.(3277-3279)cGt>cTt	p.R1093L	CACNA1D_ENST00000350061.5_Missense_Mutation_p.R1073L|CACNA1D_ENST00000422281.2_Missense_Mutation_p.R1073L	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1073	Dihydropyridine binding (By similarity).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CCTGTGGTCCGTGAACGGATC	0.527000													28	120					1.12875e-08	1.35335e-08	0.006320	1	0
KIAA1551	55196	broad.mit.edu	37	12	32134983	32134983	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr12:32134983C>T	ENST00000312561.4	+	4	1508	c.1094C>T	c.(1093-1095)gCt>gTt	p.A365V	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		CAGACTCTTGCTCAAACTAAT	0.353000													20	43					0	0	0.008871	0	0
ZNRF4	148066	broad.mit.edu	37	19	5455509	5455509	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr19:5455509C>T	ENST00000222033.4	+	1	84	c.7C>T	c.(7-9)Ctc>Ttc	p.L3F		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	3						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		ACGCATGCCGCTCTGCCGTCC	0.622000													6	25					0	0	0.001984	0	0
ATAD2	29028	broad.mit.edu	37	8	124368698	124368698	+	Nonsense_Mutation	SNP	G	G	C			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr8:124368698G>C	ENST00000287394.5	-	13	1684	c.1577C>G	c.(1576-1578)tCa>tGa	p.S526*	ATAD2_ENST00000521903.1_De_novo_Start_OutOfFrame	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			AAAAATAATTGATGGGCGCAT	0.388000													12	73					0	0	0.003163	0	0
C1orf173	127254	broad.mit.edu	37	1	75072483	75072483	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr1:75072483C>G	ENST00000326665.5	-	10	1509	c.1291G>C	c.(1291-1293)Gtg>Ctg	p.V431L	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.V234L	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	431	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCTTTCCTCACTTTCCCCTCA	0.403000													87	325					0	0	0.014410	0	0
NSD1	64324	broad.mit.edu	37	5	176671224	176671224	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr5:176671224G>A	ENST00000439151.2	+	9	4376	c.4331G>A	c.(4330-4332)gGc>gAc	p.G1444D	NSD1_ENST00000354179.4_Missense_Mutation_p.G1175D|NSD1_ENST00000361032.4_Missense_Mutation_p.G1341D|NSD1_ENST00000347982.4_Missense_Mutation_p.G1175D	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1444					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CTGGAGAATGGCATAACTGAA	0.338000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			4	97					0	0	0.014758	0	0
MAP3K15	389840	broad.mit.edu	37	X	19444422	19444422	+	Silent	SNP	C	C	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chrX:19444422C>A	ENST00000338883.4	-	8	1205	c.1206G>T	c.(1204-1206)tcG>tcT	p.S402S	MAP3K15_ENST00000469203.2_Silent_p.S234S|MAP3K15_ENST00000359173.3_5'UTR|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	402							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GATTAATTCCCGAATAGAGGG	0.333000													4	9					0.00116845	0.00126537	0.001168	1	0
TAS2R40	259286	broad.mit.edu	37	7	142920108	142920108	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr7:142920108C>G	ENST00000408947.3	+	1	979	c.937C>G	c.(937-939)Caa>Gaa	p.Q313E		NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	313					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					GTTTCAGCACCAAGTTCCTCT	0.542000													37	130					0	0	0.019004	0	0
TCF7L1	83439	broad.mit.edu	37	2	85534779	85534779	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr2:85534779G>C	ENST00000282111.3	+	11	1547	c.1272G>C	c.(1270-1272)aaG>aaC	p.K424N		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	424					chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						AGAAAAAGAAGAGGAAGAGAG	0.532000													16	67					0	0	0.003163	0	0
RADIL	55698	broad.mit.edu	37	7	4917272	4917272	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr7:4917272C>A	ENST00000399583.3	-	2	686	c.499G>T	c.(499-501)Gag>Tag	p.E167*	RADIL_ENST00000536091.1_Nonsense_Mutation_p.E167*	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	167					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GCTGCCAGCTCCTCCACGTCC	0.597000													11	36					7.03913e-09	8.52678e-09	0.013537	1	0
MMS19	64210	broad.mit.edu	37	10	99240761	99240761	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr10:99240761C>A	ENST00000438925.2	-	3	535	c.200G>T	c.(199-201)cGa>cTa	p.R67L	MMS19_ENST00000327238.10_Missense_Mutation_p.R67L|MMS19_ENST00000355839.6_Missense_Mutation_p.R67L|MMS19_ENST00000370782.2_Missense_Mutation_p.R67L|MMS19_ENST00000327277.7_5'UTR|MMS19_ENST00000483626.1_5'UTR	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	67					chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		CTGGATTGCTCGTGCCCGAGT	0.473000								Direct reversal of damage					5	14					8.12818e-05	8.96772e-05	0.001984	1	0
OR2W3	343171	broad.mit.edu	37	1	248059047	248059047	+	Silent	SNP	C	C	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr1:248059047C>A	ENST00000537741.1	+	3	416	c.159C>A	c.(157-159)ccC>ccA	p.P53P	OR2W3_ENST00000360358.3_Silent_p.P53P			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	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;0.0319)			GGCTGGACCCCCACCTCCACA	0.582000													138	320					4.58859e-59	7.5938e-59	0.014410	1	0
PCDHGB1	56104	broad.mit.edu	37	5	140730889	140730889	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr5:140730889G>T	ENST00000523390.1	+	1	1062	c.1062G>T	c.(1060-1062)gaG>gaT	p.E354D	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATTCCAGAGGATTCAGACC	0.433000													4	12					0.014758	0.0154827	0.014758	1	0
MYT1L	23040	broad.mit.edu	37	2	1926086	1926086	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr2:1926086G>C	ENST00000399161.2	-	10	2202	c.1455C>G	c.(1453-1455)agC>agG	p.S485R	MYT1L_ENST00000428368.2_Missense_Mutation_p.S485R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	485					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTTTGACATGGCTGTCACTGG	0.463000													16	50					0	0	0.004990	0	0
ZNF256	10172	broad.mit.edu	37	19	58452654	58452654	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr19:58452654G>A	ENST00000282308.3	-	3	1718	c.1522C>T	c.(1522-1524)Caa>Taa	p.Q508*	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	508					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		CTCTGGTGTTGAAGGAGCGTA	0.448000													6	98					0	0	0.001984	0	0
MTCH1	23787	broad.mit.edu	37	6	36936707	36936707	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr6:36936707G>A	ENST00000373627.5	-	12	1266	c.1142C>T	c.(1141-1143)tCa>tTa	p.S381L	MTCH1_ENST00000373616.5_Missense_Mutation_p.S364L|MTCH1_ENST00000471737.1_5'UTR	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	381					activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						TGATCCTGATGACACCCGGCG	0.572000													7	34					0	0	0.008291	0	0
OR2T27	403239	broad.mit.edu	37	1	248813308	248813308	+	Missense_Mutation	SNP	C	C	A	rs141113411	by1000genomes	TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr1:248813308C>A	ENST00000344889.3	-	1	877	c.878G>T	c.(877-879)aGg>aTg	p.R293M		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCCTTGTTCCTAAGGCTGTA	0.483000													54	48					8.44121e-28	1.3137e-27	0.014410	1	0
P4HA1	5033	broad.mit.edu	37	10	74813242	74813242	+	Silent	SNP	G	G	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr10:74813242G>A	ENST00000412021.2	-	7	903	c.570C>T	c.(568-570)gcC>gcT	p.A190A	P4HA1_ENST00000440381.1_Silent_p.A190A|P4HA1_ENST00000307116.2_Silent_p.A190A|P4HA1_ENST00000263556.3_Silent_p.A190A|P4HA1_ENST00000373008.2_Silent_p.A190A|P4HA1_ENST00000394890.2_Silent_p.A190A	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	190						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GTTGCCTTAGGGCTTGTTCCA	0.438000													21	193					0	0	0.010504	0	0
OSBPL7	114881	broad.mit.edu	37	17	45892693	45892693	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr17:45892693C>G	ENST00000007414.3	-	13	1336	c.1145G>C	c.(1144-1146)cGc>cCc	p.R382P	OSBPL7_ENST00000392507.3_Missense_Mutation_p.R382P	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	382					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						GGTGAGCTCGCGCCCCTTCAT	0.627000													5	13					0	0	0.001168	0	0
PKD1L1	168507	broad.mit.edu	37	7	47842873	47842873	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr7:47842873G>C	ENST00000289672.2	-	53	7947	c.7897C>G	c.(7897-7899)Caa>Gaa	p.Q2633E	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2633					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ATTGTGTTTTGAATGCCAGGA	0.488000													5	69					0	0	0.014758	0	0
CSMD2	114784	broad.mit.edu	37	1	34209071	34209071	+	Missense_Mutation	SNP	G	G	T	rs138506777		TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr1:34209071G>T	ENST00000373381.4	-	14	2159	c.1983C>A	c.(1981-1983)aaC>aaA	p.N661K		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	621	CUB 4.					integral to membrane|plasma membrane	protein binding	p.N621N(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGTCAATGTCGTTGAAGGCCA	0.597000													55	158					7.89702e-26	1.21294e-25	0.014410	1	0
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	RNA	SNP	T	T	C			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CCACCTGGGATTGGAGCTTTC	0.562000													3	63					0	0	0.004672	0	0
SLC35G2	80723	broad.mit.edu	37	3	136573910	136573910	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr3:136573910C>A	ENST00000446465.2	+	2	1236	c.608C>A	c.(607-609)aCa>aAa	p.T203K	SLC35G2_ENST00000393079.3_Missense_Mutation_p.T203K|RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN	solute carrier family 35, member G2	203	DUF6 1.					Golgi apparatus|integral to membrane											GCCACAACTACAGTCTTCAGT	0.398000													36	130					2.87052e-16	4.03935e-16	0.005524	1	0
OR6Y1	391112	broad.mit.edu	37	1	158517161	158517161	+	Silent	SNP	G	G	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr1:158517161G>T	ENST00000302617.3	-	1	734	c.735C>A	c.(733-735)acC>acA	p.T245T		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T245T(1)|p.T245K(1)		NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGGAGGCACAGGTGGAGAATG	0.507000													82	380					3.7744e-50	6.20268e-50	0.014410	1	0
PCDH15	65217	broad.mit.edu	37	10	55582403	55582403	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr10:55582403C>T	ENST00000361849.3	-	34	5483	c.5089G>A	c.(5089-5091)Gag>Aag	p.E1697K	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1672K|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1655K|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1692K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1626K|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.E1695K|PCDH15_ENST00000395440.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1695					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AAGGAACACTCAGCAGGAGAA	0.418000										HNSCC(58;0.16)			6	74					0	0	0.001168	0	0
DNAH2	146754	broad.mit.edu	37	17	7735979	7735979	+	Missense_Mutation	SNP	G	G	T	rs138065395	by1000genomes	TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr17:7735979G>T	ENST00000572933.1	+	83	14269	c.12809G>T	c.(12808-12810)cGg>cTg	p.R4270L	DNAH2_ENST00000389173.2_Missense_Mutation_p.R4270L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4270					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGGGCCAGCCGGGCCCGGCCT	0.602000													17	49					1.37285e-15	1.89777e-15	0.004007	1	0
SIPA1L1	26037	broad.mit.edu	37	14	72055393	72055393	+	Silent	SNP	G	G	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr14:72055393G>A	ENST00000555818.1	+	2	1152	c.804G>A	c.(802-804)caG>caA	p.Q268Q	SIPA1L1_ENST00000381232.3_Silent_p.Q268Q|SIPA1L1_ENST00000358550.2_Silent_p.Q268Q	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	268					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTATCTCACAGAGAGAGAACC	0.443000													32	350					0	0	0.010818	0	0
RNF20	56254	broad.mit.edu	37	9	104319708	104319708	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr9:104319708G>T	ENST00000389120.3	+	16	2302	c.2212G>T	c.(2212-2214)Gcc>Tcc	p.A738S		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	738					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		CACAGGCCAGGCCTTTGAAGA	0.428000													44	170					1.62263e-30	2.57647e-30	0.014410	1	0
TMTC1	83857	broad.mit.edu	37	12	29669419	29669419	+	Splice_Site	SNP	C	C	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr12:29669419C>A	ENST00000256062.5	-	15	2319	c.1845_splice	c.e15-1	p.A616_splice	TMTC1_ENST00000539277.1_Splice_Site_p.A724_splice|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000551659.1_Splice_Site_p.A786_splice|TMTC1_ENST00000552618.1_Splice_Site_p.A748_splice	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	724						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					AAAACCTGAGCCTACAAAACC	0.448000													15	46					4.96729e-08	5.83657e-08	0.008871	1	0
VPS13D	55187	broad.mit.edu	37	1	12439542	12439542	+	Splice_Site	SNP	A	A	G			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr1:12439542A>G	ENST00000358136.3	+	57	11212	c.11081_splice	c.e57-1	p.R3694_splice	VPS13D_ENST00000356315.4_Splice_Site_p.R3669_splice|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3693					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CGTTTTCCAGATACGAGCCAC	0.493000													27	141					0	0	0.004656	0	0
OR7E24	26648	broad.mit.edu	37	19	9361855	9361855	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr19:9361855G>T	ENST00000456448.1	+	1	250	c.136G>T	c.(136-138)Gct>Tct	p.A46S		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						GCCGGTCCTCGCTGGGCTGTT	0.572000													10	43					6.40141e-05	7.12953e-05	0.010729	1	0
SHCBP1	79801	broad.mit.edu	37	16	46629573	46629573	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr16:46629573C>A	ENST00000303383.3	-	10	1621	c.1355G>T	c.(1354-1356)cGt>cTt	p.R452L		NM_024745.4	NP_079021.3	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	452										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				AGTCTTACCACGGTGAACAAC	0.448000													13	82					0.0135373	0.01433	0.013537	1	0
ATP4A	495	broad.mit.edu	37	19	36050730	36050730	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr19:36050730C>G	ENST00000262623.3	-	7	1061	c.1033G>C	c.(1033-1035)Gag>Cag	p.E345Q		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	345					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	AGCAGCCCCTCAGGCACATAG	0.582000													20	46					0	0	0.010504	0	0
PCDHB2	56133	broad.mit.edu	37	5	140476015	140476015	+	Silent	SNP	G	G	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr5:140476015G>T	ENST00000194155.4	+	1	1789	c.1641G>T	c.(1639-1641)gcG>gcT	p.A547A		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		547	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGCGAGGCGCTGGTGCGCG	0.711000													8	24					3.07112e-06	3.52055e-06	0.010729	1	0
TMTC3	160418	broad.mit.edu	37	12	88588809	88588809	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr12:88588809C>T	ENST00000266712.6	+	14	2348	c.2128C>T	c.(2128-2130)Ctc>Ttc	p.L710F		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	711						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TAATCTGGCTCTCCTGTATTC	0.418000													64	122					0	0	0.014410	0	0
CSF1R	1436	broad.mit.edu	37	5	149460352	149460352	+	Silent	SNP	G	G	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr5:149460352G>T	ENST00000286301.3	-	3	576	c.285C>A	c.(283-285)gcC>gcA	p.A95A	CSF1R_ENST00000543093.1_Silent_p.A95A	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	95	Ig-like C2-type 1.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GGTGGATGGCGGCGCTGCCTC	0.587000													10	30					1.58986e-06	1.83146e-06	0.008291	1	0
CYP2C18	1562	broad.mit.edu	37	10	96484123	96484123	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr10:96484123G>C	ENST00000285979.6	+	7	1181	c.982G>C	c.(982-984)Gaa>Caa	p.E328Q	CYP2C18_ENST00000339022.5_Missense_Mutation_p.E269Q|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		GGAAGAGATTGAATGTGTAGT	0.448000													131	468					0	0	0.014410	0	0
KLHL1	57626	broad.mit.edu	37	13	70535514	70535514	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr13:70535514G>C	ENST00000377844.4	-	3	1502	c.743C>G	c.(742-744)gCc>gGc	p.A248G	KLHL1_ENST00000545028.1_Missense_Mutation_p.A55G	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	248	BTB.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CTCTTGCTTGGCTTCACAAAC	0.413000													25	118					0	0	0.021523	0	0
ALDH3A2	224	broad.mit.edu	37	17	19555060	19555060	+	Silent	SNP	C	C	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr17:19555060C>T	ENST00000176643.6	+	2	800	c.354C>T	c.(352-354)acC>acT	p.T118T	ALDH3A2_ENST00000339618.4_Silent_p.T118T|ALDH3A2_ENST00000581518.1_Silent_p.T118T|ALDH3A2_ENST00000395575.2_Silent_p.T118T|ALDH3A2_ENST00000579855.1_Silent_p.T118T			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	118					cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	TCGTTCTCACCATTCAGCCAC	0.463000													10	33					0	0	0.010729	0	0
CD27	939	broad.mit.edu	37	12	6560159	6560159	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr12:6560159C>T	ENST00000266557.3	+	5	866	c.637C>T	c.(637-639)Caa>Taa	p.Q213*	CD27-AS1_ENST00000399492.2_RNA|CD27-AS1_ENST00000545339.1_RNA|CD27_ENST00000541233.1_3'UTR	NM_001242.4	NP_001233.1	P26842	CD27_HUMAN	CD27 molecule	213					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB	extracellular region|integral to plasma membrane	caspase inhibitor activity|protein binding|transmembrane receptor activity			kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						GTTCCTCCATCAACGAAGGAA	0.547000													62	198					0	0	0.014410	0	0
CDH24	64403	broad.mit.edu	37	14	23522740	23522740	+	Silent	SNP	G	G	C			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr14:23522740G>C	ENST00000397359.3	-	7	1450	c.1191C>G	c.(1189-1191)tcC>tcG	p.S397S	CDH24_ENST00000554034.1_Silent_p.S397S|CDH24_ENST00000487137.2_Silent_p.S397S|CDH24_ENST00000267383.5_Silent_p.S397S	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	397	Cadherin 4.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GGTCAGCCGCGGAGATCTGGC	0.637000													4	17					0	0	0.009096	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433080	73433080	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr3:73433080G>T	ENST00000263666.4	-	10	2751	c.2637C>A	c.(2635-2637)caC>caA	p.H879Q	PDZRN3_ENST00000466780.1_Missense_Mutation_p.H536Q|PDZRN3_ENST00000462146.2_Missense_Mutation_p.H536Q|PDZRN3_ENST00000479530.1_Missense_Mutation_p.H596Q|PDZRN3_ENST00000535920.1_Missense_Mutation_p.H601Q	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	879							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AGCTCTGGTAGTGCTGGGCGT	0.642000													16	36					4.7546e-09	5.78928e-09	0.004007	1	0
TNC	3371	broad.mit.edu	37	9	117791722	117791722	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr9:117791722C>T	ENST00000350763.4	-	25	6497	c.6086G>A	c.(6085-6087)cGc>cAc	p.R2029H	TNC_ENST00000542877.1_Missense_Mutation_p.R1666H|TNC_ENST00000341037.4_Missense_Mutation_p.R1847H|TNC_ENST00000537320.1_Missense_Mutation_p.R1392H|TNC_ENST00000346706.3_Missense_Mutation_p.R1483H|TNC_ENST00000423613.2_Missense_Mutation_p.R1756H|TNC_ENST00000535648.1_Missense_Mutation_p.R1574H|TNC_ENST00000340094.3_Missense_Mutation_p.R1665H|TNC_ENST00000345230.3_Missense_Mutation_p.R1392H	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2029	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCCGTTTTTGCGTCTCAGGAA	0.488000													5	247					0	0	0.001168	0	0
ZNF66	7617	broad.mit.edu	37	19	20975389	20975389	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr19:20975389G>T	ENST00000344519.8	+	2	98	c.75G>T	c.(73-75)caG>caT	p.Q25H	ZNF66_ENST00000594534.1_Missense_Mutation_p.Q25H|ZNF66_ENST00000360204.5_Missense_Mutation_p.Q3H|ZNF66_ENST00000425625.1_Missense_Mutation_p.Q71H																							ACATGGCACAGCGGAATTTAT	0.383000													21	108					3.85864e-22	5.8502e-22	0.016522	1	0
SELE	6401	broad.mit.edu	37	1	169699641	169699641	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr1:169699641G>T	ENST00000333360.7	-	5	786	c.647C>A	c.(646-648)cCa>cAa	p.P216Q	SELE_ENST00000367782.4_Missense_Mutation_p.P216Q|SELE_ENST00000367774.1_Missense_Mutation_p.P216Q|SELE_ENST00000367781.4_Missense_Mutation_p.P216Q|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367777.1_Missense_Mutation_p.P216Q|SELE_ENST00000367780.4_Intron|SELE_ENST00000367779.4_Missense_Mutation_p.P216Q|SELE_ENST00000367776.1_Missense_Mutation_p.P216Q|SELE_ENST00000367775.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	216	Sushi 1.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					CATGCTGCTTGGCAGGTAACC	0.507000													46	208					6.03219e-31	9.6433e-31	0.014410	1	0
ZP4	57829	broad.mit.edu	37	1	238049185	238049185	+	Splice_Site	SNP	G	G	T	rs147732809		TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr1:238049185G>T	ENST00000366570.4	-	7	999	c.839_splice	c.e7-1	p.L281_splice	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	281	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CTGACATGGAGCCTGCAGAGA	0.468000													23	39					9.86323e-18	1.41333e-17	0.021523	1	0
LRRC4C	57689	broad.mit.edu	37	11	40136654	40136654	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr11:40136654C>G	ENST00000278198.2	-	2	3152	c.1189G>C	c.(1189-1191)Ggg>Cgg	p.G397R	LRRC4C_ENST00000528697.1_Missense_Mutation_p.G397R|LRRC4C_ENST00000530763.1_Missense_Mutation_p.G397R|LRRC4C_ENST00000527150.1_Missense_Mutation_p.G397R			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	397	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TTGTACGCCCCATGTGTCATG	0.458000													96	365					0	0	0.014410	0	0
RYR2	6262	broad.mit.edu	37	1	237948105	237948105	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr1:237948105G>C	ENST00000366574.2	+	90	13410	c.13093G>C	c.(13093-13095)Gac>Cac	p.D4365H	RYR2_ENST00000360064.6_Missense_Mutation_p.D4371H|RYR2_ENST00000542537.1_Missense_Mutation_p.D4349H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4365					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGATCTGACCGACTTAAAGGA	0.537000													75	152					0	0	0.014410	0	0
STAT3	6774	broad.mit.edu	37	17	40476748	40476748	+	Silent	SNP	T	T	A	rs1141123		TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr17:40476748T>A	ENST00000264657.5	-	17	1893	c.1581A>T	c.(1579-1581)acA>acT	p.T527T	STAT3_ENST00000588969.1_Silent_p.T527T|STAT3_ENST00000389272.3_Silent_p.T429T|STAT3_ENST00000404395.3_Silent_p.T527T|STAT3_ENST00000585517.1_Silent_p.T527T	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	527					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TCTCTGCCAGTGTAGTCAGCT	0.602000									Hyperimmunoglobulin E Recurrent Infection Syndrome				6	17					0	0	0.003080	0	0
ACRV1	56	broad.mit.edu	37	11	125547931	125547931	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr11:125547931T>A	ENST00000533904.1	-	2	656	c.314A>T	c.(313-315)gAa>gTa	p.E105V	ACRV1_ENST00000453509.1_Intron|ACRV1_ENST00000426183.1_Intron|ACRV1_ENST00000425431.1_Intron|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000445562.1_Intron|ACRV1_ENST00000345274.1_Intron|ACRV1_ENST00000348856.3_Missense_Mutation_p.E50V|ACRV1_ENST00000433875.1_Missense_Mutation_p.E105V|ACRV1_ENST00000257382.2_Missense_Mutation_p.E50V			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	105	4 X 4 AA repeats of S-G-E-H.				multicellular organismal development	acrosomal vesicle				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		ATGCTCACCTTCAGCATGTTC	0.542000													52	125					0	0	0.014410	0	0
PEG3	5178	broad.mit.edu	37	19	57335709	57335709	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr19:57335709C>A	ENST00000326441.9	-	4	678	c.315G>T	c.(313-315)tgG>tgT	p.W105C	PEG3_ENST00000598410.1_5'UTR|ZIM2_ENST00000221722.5_5'UTR|ZIM2_ENST00000391708.3_5'UTR|PEG3_ENST00000593695.1_5'UTR|PEG3_ENST00000594706.1_5'UTR|ZIM2_ENST00000601070.1_5'UTR|PEG3_ENST00000423103.2_Missense_Mutation_p.W105C|ZIM2_ENST00000599935.1_5'UTR|ZIM2_ENST00000593711.1_5'UTR	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	105	SCAN box.				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)		TTGCTCGCACCCAAGGCTTGA	0.537000													33	108					1.04352e-10	1.32555e-10	0.017118	1	0
ZKSCAN8	7745	broad.mit.edu	37	6	28121477	28121477	+	Silent	SNP	G	G	C			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr6:28121477G>C	ENST00000330236.6	+	6	1603	c.1419G>C	c.(1417-1419)cgG>cgC	p.R473R	ZKSCAN8_ENST00000457389.2_Silent_p.R473R	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2			zinc finger with KRAB and SCAN domains 8																		CCTTCAGGCGGAGCTCACATC	0.502000													36	97					0	0	0.013726	0	0
MYH6	4624	broad.mit.edu	37	14	23863422	23863422	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr14:23863422G>A	ENST00000405093.3	-	21	2610	c.2540C>T	c.(2539-2541)aCg>aTg	p.T847M	MYH6_ENST00000356287.3_Missense_Mutation_p.T847M	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	847					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTCCTTCTCCGTCTCTGCGCT	0.562000													22	40					0	0	0.014323	0	0
WNT10B	7480	broad.mit.edu	37	12	49359953	49359953	+	Silent	SNP	A	A	G			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr12:49359953A>G	ENST00000301061.4	-	5	1443	c.1095T>C	c.(1093-1095)caT>caC	p.H365H	WNT10B_ENST00000403957.1_3'UTR|WNT10B_ENST00000407467.1_3'UTR	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	365					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						GGAAGCGGCAATGGCAGCGCT	0.602000													9	30					0	0	0.013537	0	0
GABRA2	2555	broad.mit.edu	37	4	46390669	46390669	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr4:46390669C>A	ENST00000507460.1	-	2	387	c.55G>T	c.(55-57)Gtg>Ttg	p.V19L	GABRA2_ENST00000381620.4_Missense_Mutation_p.V19L|GABRA2_ENST00000540012.1_5'UTR|GABRA2_ENST00000514090.1_Missense_Mutation_p.V19L|GABRA2_ENST00000515082.1_Missense_Mutation_p.V19L|GABRA2_ENST00000507069.1_Missense_Mutation_p.V19L|GABRA2_ENST00000510861.1_Missense_Mutation_p.V19L|GABRA2_ENST00000509716.1_5'UTR|GABRA2_ENST00000356504.1_Missense_Mutation_p.V19L			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	19					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGGTCCCACACCAAGAAAACA	0.373000													22	84					7.87624e-14	1.03984e-13	0.016522	1	0
TDO2	6999	broad.mit.edu	37	4	156841072	156841072	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr4:156841072C>G	ENST00000536354.2	+	12	1215	c.1151C>G	c.(1150-1152)aCc>aGc	p.T384S		NM_005651.3	NP_005642.1	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	384					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	ATGAACCCAACCATTCACAAA	0.358000													15	53					0	0	0.003163	0	0
ZNF426	79088	broad.mit.edu	37	19	9639758	9639758	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr19:9639758G>C	ENST00000593003.1	-	6	1326	c.849C>G	c.(847-849)aaC>aaG	p.N283K	ZNF426_ENST00000535489.1_Missense_Mutation_p.N321K|ZNF426_ENST00000253115.2_Missense_Mutation_p.N321K			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TCTGAAATGAGTTGGAATAAT	0.443000													4	115					0	0	0.009096	0	0
ACVRL1	94	broad.mit.edu	37	12	52314647	52314647	+	Silent	SNP	C	C	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr12:52314647C>T	ENST00000550683.1	+	9	1625	c.1524C>T	c.(1522-1524)aaC>aaT	p.N508N	ACVRL1_ENST00000388922.4_Silent_p.N494N|ACVRL1_ENST00000419526.2_Silent_p.N320N	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	494					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	AAATTAGCAACAGTCCAGAGA	0.567000													3	29					0	0	0.009096	0	0
JAK3	3718	broad.mit.edu	37	19	17954675	17954675	+	Silent	SNP	C	C	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr19:17954675C>A	ENST00000458235.1	-	3	318	c.219G>T	c.(217-219)ctG>ctT	p.L73L	JAK3_ENST00000534444.1_Silent_p.L73L|JAK3_ENST00000527670.1_Silent_p.L73L|JAK3_ENST00000526008.1_5'UTR	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	73	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						CCTCCGTGGCCAGAGCAAAGA	0.612000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								4	9					3.59834e-05	4.04598e-05	0.001168	1	0
ARID1A	8289	broad.mit.edu	37	1	27102066	27102066	+	Splice_Site	SNP	A	A	G			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr1:27102066A>G	ENST00000324856.7	+	19	5364		c.e19-1		ARID1A_ENST00000457599.2_Splice_Site|ARID1A_ENST00000540690.1_Splice_Site|ARID1A_ENST00000374152.2_Splice_Site	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)						androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGTTTATTTCAGGAACCCCGG	0.532000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								7	41					0	0	0.004482	0	0
TBPL2	387332	broad.mit.edu	37	14	55900394	55900394	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr14:55900394C>T	ENST00000247219.5	-	4	812	c.742G>A	c.(742-744)Gcc>Acc	p.A248T		NM_199047.2	NP_950248.1	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	248					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						AATATAAGGGCTGTTGTCCTG	0.453000													33	101					0	0	0.019004	0	0
KIF1B	23095	broad.mit.edu	37	1	10397177	10397177	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr1:10397177G>A	ENST00000377086.1	+	30	3377	c.3175G>A	c.(3175-3177)Gag>Aag	p.E1059K	KIF1B_ENST00000377081.1_Missense_Mutation_p.E1059K|KIF1B_ENST00000263934.6_Missense_Mutation_p.E1013K			O60333	KIF1B_HUMAN	kinesin family member 1B	1059					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TCTGTCCTTGGAGGAGTTGAG	0.423000													94	368					0	0	0.014410	0	0
SLIT2	9353	broad.mit.edu	37	4	20255448	20255448	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr4:20255448G>T	ENST00000504154.1	+	1	262	c.10G>T	c.(10-12)Gtt>Ttt	p.V4F	SLIT2_ENST00000503837.1_Missense_Mutation_p.V4F|SLIT2_ENST00000503823.1_Missense_Mutation_p.V4F|SLIT2_ENST00000273739.5_Missense_Mutation_p.V4F	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	4					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GATGCGCGGCGTTGGCTGGCA	0.672000													7	37					1.58986e-06	1.83146e-06	0.008291	1	0
SNTG1	54212	broad.mit.edu	37	8	51351125	51351125	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr8:51351125G>T	ENST00000522124.1	+	5	846	c.185G>T	c.(184-186)aGa>aTa	p.R62I	SNTG1_ENST00000517473.1_Missense_Mutation_p.R62I|SNTG1_ENST00000518864.1_Missense_Mutation_p.R62I|SNTG1_ENST00000276467.5_Missense_Mutation_p.R62I	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	62	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				ACCATCAGAAGACAAACAGTA	0.378000													18	85					1.45105e-14	1.95975e-14	0.006122	1	0
ITPR3	3710	broad.mit.edu	37	6	33626578	33626578	+	Silent	SNP	C	C	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr6:33626578C>T	ENST00000374316.5	+	6	1561	c.501C>T	c.(499-501)ttC>ttT	p.F167F	ITPR3_ENST00000605930.1_Silent_p.F167F			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	167	MIR 1.				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						TCCAGCCCTTCTGGAAGCTGC	0.637000													33	84					0	0	0.015359	0	0
ATP1A2	477	broad.mit.edu	37	1	160105634	160105634	+	Silent	SNP	C	C	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr1:160105634C>T	ENST00000361216.3	+	17	2379	c.2290C>T	c.(2290-2292)Ctg>Ttg	p.L764L	ATP1A2_ENST00000392233.3_Silent_p.L764L|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	764			L -> P (in FHM2; loss of function; dbSNP:rs28933398).		ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CACAGGCCGCCTGATCTTTGA	0.572000													48	255					0	0	0.014410	0	0
METTL25	84190	broad.mit.edu	37	12	82796795	82796795	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr12:82796795G>C	ENST00000248306.3	+	5	1234	c.1165G>C	c.(1165-1167)Gat>Cat	p.D389H	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2			methyltransferase like 25																		CACTTGTGGTGATCTGGCTCC	0.343000													20	147					0	0	0.018920	0	0
NAP1L1	4673	broad.mit.edu	37	12	76444323	76444323	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr12:76444323A>T	ENST00000261182.8	-	12	1533	c.1047T>A	c.(1045-1047)gaT>gaA	p.D349E	NAP1L1_ENST00000393263.3_Missense_Mutation_p.D349E|NAP1L1_ENST00000548044.1_Missense_Mutation_p.D308E|NAP1L1_ENST00000544816.1_Missense_Mutation_p.D166E|NAP1L1_ENST00000535020.2_Missense_Mutation_p.D349E|NAP1L1_ENST00000542344.1_Missense_Mutation_p.D307E|NAP1L1_ENST00000549596.1_Missense_Mutation_p.D349E|NAP1L1_ENST00000547993.1_Missense_Mutation_p.D166E|NAP1L1_ENST00000552342.1_Missense_Mutation_p.D360E|NAP1L1_ENST00000547773.1_Missense_Mutation_p.D286E|NAP1L1_ENST00000431879.3_Missense_Mutation_p.D281E	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	349	Asp/Glu-rich (acidic).				DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				CATCATCATCATCTTCAATAG	0.358000													4	118					0	0	0.001984	0	0
SERPINE1	5054	broad.mit.edu	37	7	100773718	100773718	+	Silent	SNP	C	C	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr7:100773718C>A	ENST00000223095.4	+	3	445	c.288C>A	c.(286-288)ccC>ccA	p.P96P	SERPINE1_ENST00000445463.2_Silent_p.P81P	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	96					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	GCATGGCCCCCGCCCTCCGGC	0.607000													62	205					9.61844e-40	1.55885e-39	0.014410	1	0
PDZD8	118987	broad.mit.edu	37	10	119043306	119043306	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr10:119043306T>C	ENST00000334464.5	-	5	3177	c.2938A>G	c.(2938-2940)Agt>Ggt	p.S980G		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	980					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TCCGTGTCACTGCCTTCGTTG	0.468000													198	605					0	0	0.014410	0	0
RUSC1	23623	broad.mit.edu	37	1	155294237	155294237	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr1:155294237G>A	ENST00000368347.4	+	1	510	c.29G>A	c.(28-30)cGc>cAc	p.R10H	RUSC1_ENST00000368354.3_Intron|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368352.5_Intron	NM_001105205.1	NP_001098675.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	0						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CCGGGGCTCCGCAGGCAGGAC	0.721000													4	97					0	0	0.014758	0	0
FGD3	89846	broad.mit.edu	37	9	95766312	95766312	+	Silent	SNP	G	G	C			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr9:95766312G>C	ENST00000375482.3	+	5	1069	c.573G>C	c.(571-573)ggG>ggC	p.G191G	FGD3_ENST00000337352.6_Silent_p.G191G|FGD3_ENST00000416701.2_Silent_p.G191G	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	191	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CGGATGCGGGGATCCCTCCAG	0.602000											OREG0019318	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	72					0	0	0.008291	0	0
ELMO2	63916	broad.mit.edu	37	20	45000483	45000483	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr20:45000483C>A	ENST00000372176.1	-	17	1746	c.1278G>T	c.(1276-1278)gaG>gaT	p.E426D	ELMO2_ENST00000396391.1_Missense_Mutation_p.E514D|ELMO2_ENST00000290246.6_Missense_Mutation_p.E514D|ELMO2_ENST00000445496.2_Missense_Mutation_p.E331D|ELMO2_ENST00000352077.2_Missense_Mutation_p.E512D|ELMO2_ENST00000439931.2_Missense_Mutation_p.E526D|ELMO2_ENST00000454865.2_Missense_Mutation_p.E246D			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	514	ELMO.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				GACTCATCCTCTCAGACTGGC	0.542000													9	134					2.17888e-05	2.48561e-05	0.006214	1	0
COLEC12	81035	broad.mit.edu	37	18	334871	334871	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr18:334871C>A	ENST00000400256.3	-	6	1894	c.1687G>T	c.(1687-1689)Gga>Tga	p.G563*		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	563	Collagen-like 3.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CCTGGCAGTCCCCGAGGTCCA	0.726000													3	9					0.004672	0.00501333	0.004672	1	0
TTN	7273	broad.mit.edu	37	2	179575543	179575543	+	Silent	SNP	C	C	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr2:179575543C>T	ENST00000589042.1	-	98	28505	c.28281G>A	c.(28279-28281)aaG>aaA	p.K9427K	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.K9110K|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.K8183K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9110	Ig-like 77.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCAGCTGACCTTTATCGGTT	0.517000													28	85					0	0	0.008361	0	0
KAT2A	2648	broad.mit.edu	37	17	40271354	40271354	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr17:40271354C>T	ENST00000225916.5	-	6	1035	c.982G>A	c.(982-984)Gtt>Att	p.V328I		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	328					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CGGCGGGTAACGGTGAAAATG	0.567000													35	114					0	0	0.009718	0	0
LCT	3938	broad.mit.edu	37	2	136566483	136566483	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr2:136566483C>T	ENST00000264162.2	-	8	3444	c.3434G>A	c.(3433-3435)cGa>cAa	p.R1145Q		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1145	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTGCAGCATTCGGTCAGCGGC	0.562000													18	51					0	0	0.014323	0	0
CALB2	794	broad.mit.edu	37	16	71408698	71408698	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr16:71408698G>C	ENST00000302628.4	+	3	299	c.222G>C	c.(220-222)aaG>aaC	p.K74N	CALB2_ENST00000349553.5_Missense_Mutation_p.K74N	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	74	EF-hand 2.						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)				TCATGCAGAAGTATGATAAAA	0.493000													31	82					0	0	0.010818	0	0
ZNF676	163223	broad.mit.edu	37	19	22363074	22363074	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr19:22363074C>T	ENST00000397121.2	-	3	1762	c.1445G>A	c.(1444-1446)tGt>tAt	p.C482Y		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	482					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GCCTTTGCCACATTCTTCACA	0.393000													42	148					0	0	0.010771	0	0
RGL1	23179	broad.mit.edu	37	1	183869311	183869311	+	Silent	SNP	C	C	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr1:183869311C>T	ENST00000304685.3	+	12	1824	c.1363C>T	c.(1363-1365)Ctg>Ttg	p.L455L	RGL1_ENST00000539189.1_Intron|RGL1_ENST00000360851.3_Silent_p.L420L|RGL1_ENST00000367531.1_Silent_p.L455L|RGL1_ENST00000536277.1_Silent_p.L418L	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	420	Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TGTGCCCTACCTGGGCACCTT	0.512000													76	276					0	0	0.014410	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41739445	41739445	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr22:41739445C>T	ENST00000352645.4	+	13	1581	c.1324C>T	c.(1324-1326)Cgt>Tgt	p.R442C	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.R442C	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	458					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTACACCTACCGTGAGGGCCT	0.637000													7	46					0	0	0.006214	0	0
CACNA1S	779	broad.mit.edu	37	1	201022390	201022390	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr1:201022390C>T	ENST00000362061.3	-	31	4034	c.3808G>A	c.(3808-3810)Gtg>Atg	p.V1270M	CACNA1S_ENST00000367338.3_Missense_Mutation_p.V1251M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1270					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGCAGAGCCACGTAGGGTAGG	0.622000													5	141					0	0	0.014758	0	0
STAB1	23166	broad.mit.edu	37	3	52529465	52529465	+	Silent	SNP	C	C	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr3:52529465C>T	ENST00000321725.6	+	1	112	c.36C>T	c.(34-36)ctC>ctT	p.L12L		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	12					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CACTCTGCCTCCTGGCCTTCT	0.701000													3	6					0	0	0.009096	0	0
TTN	7273	broad.mit.edu	37	2	179449101	179449101	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr2:179449101T>G	ENST00000589042.1	-	311	65401	c.65177A>C	c.(65176-65178)gAa>gCa	p.E21726A	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E20085A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E12853A|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E19158A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E12661A|TTN_ENST00000359218.5_Missense_Mutation_p.E12786A|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20085	Ig-like 114.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCAAGACCTTCTACAAGGCC	0.448000													7	218					0	0	0.003080	0	0
TRH	7200	broad.mit.edu	37	3	129695748	129695748	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr3:129695748C>T	ENST00000302649.3	+	3	945	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	TRH_ENST00000507066.1_Missense_Mutation_p.R136C	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	140					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						TCCTGGCCGGCGCTCCCCCTG	0.627000													4	91					0	0	0.009096	0	0
DSC2	1824	broad.mit.edu	37	18	28672145	28672145	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr18:28672145C>A	ENST00000280904.6	-	3	716	c.273G>T	c.(271-273)aaG>aaT	p.K91N	DSC2_ENST00000251081.6_Missense_Mutation_p.K91N	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	91					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TAAAACTTCTCTTCTCCGAGG	0.338000													30	118					2.70662e-09	3.33013e-09	0.009535	1	0
WDR49	151790	broad.mit.edu	37	3	167277872	167277872	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr3:167277872T>A	ENST00000308378.3	-	5	936	c.631A>T	c.(631-633)Agc>Tgc	p.S211C	WDR49_ENST00000476376.1_Missense_Mutation_p.S36C|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.S264C	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	211										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CCATCTGTGCTGCCAGTCAAA	0.443000													65	255					0	0	0.014410	0	0
RNF17	56163	broad.mit.edu	37	13	25338423	25338423	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr13:25338423G>A	ENST00000255324.5	+	1	134	c.82G>A	c.(82-84)Gct>Act	p.A28T	RNF17_ENST00000255325.5_Missense_Mutation_p.A28T|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Missense_Mutation_p.A28T	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	28					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CTGGGGTGCCGCTGAAATCCA	0.622000													3	19					0	0	0.004672	0	0
MAD2L1	4085	broad.mit.edu	37	4	120981278	120981278	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr4:120981278C>T	ENST00000296509.5	-	5	952	c.613G>A	c.(613-615)Gac>Aac	p.D205N		NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)	205	Required for assuming the closed conformation and for interaction with CDC20.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity			breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						CATCCTCAGTCATTGACAGGA	0.338000													23	119					0	0	0.005443	0	0
TRPM4	54795	broad.mit.edu	37	19	49671336	49671336	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr19:49671336C>T	ENST00000252826.5	+	4	556	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	TRPM4_ENST00000355712.5_Intron|TRPM4_ENST00000427978.2_Missense_Mutation_p.R144W	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	144					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TGGGCTGGTGCGGGCTGCCCA	0.731000													3	47					0	0	0.004672	0	0
LIG1	3978	broad.mit.edu	37	19	48654564	48654564	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr19:48654564C>A	ENST00000263274.7	-	7	918	c.499G>T	c.(499-501)Gct>Tct	p.A167S	LIG1_ENST00000536218.1_Intron|LIG1_ENST00000427526.2_Missense_Mutation_p.A136S|LIG1_ENST00000599165.1_5'UTR	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	167					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GCCACTTCAGCCTCTGTGAGG	0.542000								Nucleotide excision repair (NER)					78	253					2.61964e-41	4.27511e-41	0.014410	1	0
TMEM55A	55529	broad.mit.edu	37	8	92008881	92008881	+	Splice_Site	SNP	C	C	G			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr8:92008881C>G	ENST00000285419.3	-	6	945		c.e6+1			NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A							integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			GTAACACTCACAGTTAACCCA	0.438000													9	18					0	0	0.004482	0	0
PSG8	440533	broad.mit.edu	37	19	43269801	43269801	+	Translation_Start_Site	SNP	G	G	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr19:43269801G>T	ENST00000404209.4	-	0	29				PSG8_ENST00000401467.2_Intron|PSG8_ENST00000406636.3_De_novo_Start_OutOfFrame|PSG8_ENST00000306511.4_De_novo_Start_OutOfFrame	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8							extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CCTGAGCACAGCTCTCAGCAG	0.617000													23	57					2.89027e-11	3.71155e-11	0.014323	1	0
TTN	7273	broad.mit.edu	37	2	179622365	179622365	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr2:179622365C>T	ENST00000589042.1	-	45	10806	c.10582G>A	c.(10582-10584)Gat>Aat	p.D3528N	TTN_ENST00000360870.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D3482N|TTN-AS1_ENST00000590773.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3209	Ig-like 21.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGTAAGCATCAACTATAAGC	0.438000													49	176					0	0	0.014410	0	0
PEX5L	51555	broad.mit.edu	37	3	179525576	179525576	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr3:179525576C>T	ENST00000467460.1	-	14	1892	c.1562G>A	c.(1561-1563)gGa>gAa	p.G521E	PEX5L_ENST00000465751.1_Missense_Mutation_p.G497E|PEX5L_ENST00000464614.1_Missense_Mutation_p.G413E|PEX5L_ENST00000392649.3_Missense_Mutation_p.G413E|PEX5L_ENST00000263962.8_Missense_Mutation_p.G519E|PEX5L_ENST00000485199.1_Missense_Mutation_p.G486E|PEX5L_ENST00000476138.1_Missense_Mutation_p.G478E|PEX5L_ENST00000472994.1_Missense_Mutation_p.G462E|PEX5L_ENST00000468741.1_Missense_Mutation_p.G329E|PEX5L_ENST00000467440.2_5'UTR	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	521					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GCTGCGGTCTCCGTTCGCCAA	0.522000													45	127					0	0	0.014410	0	0
PEX13	5194	broad.mit.edu	37	2	61259019	61259019	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr2:61259019G>C	ENST00000295030.4	+	2	596	c.558G>C	c.(556-558)agG>agC	p.R186S		NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	186	Interaction with PEX19.|Targeting to peroxisomes.				cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding			endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			CATTGGTTAGGACTATACGGT	0.418000													42	128					0	0	0.008740	0	0
PPP4R2	151987	broad.mit.edu	37	3	73114652	73114652	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr3:73114652C>G	ENST00000356692.5	+	9	1286	c.1033C>G	c.(1033-1035)Caa>Gaa	p.Q345E	PPP4R2_ENST00000295862.9_Missense_Mutation_p.Q289E|PPP4R2_ENST00000394284.3_Missense_Mutation_p.Q288E			Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	345	Glu-rich.				mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity			breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		GGAAAATAATCAAATGGAGGA	0.373000													9	465					0	0	0.004482	0	0
SETD2	29072	broad.mit.edu	37	3	47164268	47164268	+	Nonsense_Mutation	SNP	G	G	A	rs148810823		TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr3:47164268G>A	ENST00000409792.3	-	3	1900	c.1858C>T	c.(1858-1860)Cga>Tga	p.R620*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	620					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCATTTAATCGATTTGATGGA	0.313000			"""N, F, S, Mis"""		clear cell renal carcinoma								3	48					0	0	0.009096	0	0
NAP1L3	4675	broad.mit.edu	37	X	92927486	92927486	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chrX:92927486G>A	ENST00000373079.3	-	1	1081	c.818C>T	c.(817-819)gCa>gTa	p.A273V	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	273					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TGCAGCCCTTGCCTTAGCCTC	0.448000													4	123					0	0	0.014758	0	0
THSD7A	221981	broad.mit.edu	37	7	11452406	11452406	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr7:11452406G>A	ENST00000423059.3	-	18	3810	c.3559C>T	c.(3559-3561)Cgg>Tgg	p.R1187W	AC004160.4_ENST00000425837.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1187	TSP type-1 11.					integral to membrane		p.R1187W(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GACCTTTGCCGGAAACTGCTT	0.428000										HNSCC(18;0.044)			11	36					0	0	0.010729	0	0
CLEC4M	10332	broad.mit.edu	37	19	7832417	7832417	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr19:7832417C>T	ENST00000327325.5	+	6	1070	c.952C>T	c.(952-954)Cag>Tag	p.Q318*	CLEC4M_ENST00000595496.1_Nonsense_Mutation_p.Q182*|CLEC4M_ENST00000596707.1_Nonsense_Mutation_p.Q251*|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000357361.2_Intron|CLEC4M_ENST00000248228.4_Nonsense_Mutation_p.Q296*|CLEC4M_ENST00000359059.5_Nonsense_Mutation_p.Q251*|CLEC4M_ENST00000394122.2_Nonsense_Mutation_p.Q306*|CLEC4M_ENST00000334806.5_Nonsense_Mutation_p.Q267*	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	318	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CCTACAGCTGCAGACTTCCAG	0.557000													32	98					0	0	0.010818	0	0
ALDH1A3	220	broad.mit.edu	37	15	101434170	101434170	+	Silent	SNP	C	C	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr15:101434170C>A	ENST00000329841.5	+	6	1081	c.549C>A	c.(547-549)ccC>ccA	p.P183P	RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Intron	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	183					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	GGAACTTCCCCCTGCTGATGC	0.602000													27	84					4.87955e-14	6.4785e-14	0.005443	1	0
PTPDC1	138639	broad.mit.edu	37	9	96859671	96859671	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr9:96859671C>T	ENST00000375360.3	+	7	1001	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	PTPDC1_ENST00000288976.3_Missense_Mutation_p.R273W	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	221	Tyrosine-protein phosphatase.						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R273W(1)|p.R221W(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TATATTTGTGCGGGCAAAGCG	0.418000													4	111					0	0	0.014758	0	0
GUSBP5	441046	broad.mit.edu	37	4	144481231	144481231	+	RNA	SNP	C	C	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr4:144481231C>T	ENST00000510805.1	+	0	607					NR_003675.2																						TGGGTACCATCCTGCTTCCAC	0.542000													3	10					0	0	0.004672	0	0
ACSL6	23305	broad.mit.edu	37	5	131310609	131310609	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr5:131310609G>C	ENST00000379264.2	-	11	1153	c.1045C>G	c.(1045-1047)Cac>Gac	p.H349D	ACSL6_ENST00000544770.1_Missense_Mutation_p.H233D|ACSL6_ENST00000379240.1_Missense_Mutation_p.H324D|ACSL6_ENST00000379244.1_Intron|ACSL6_ENST00000357096.1_Intron|ACSL6_ENST00000543479.1_Intron|ACSL6_ENST00000379272.2_Missense_Mutation_p.H339D|ACSL6_ENST00000379246.1_Missense_Mutation_p.H335D|ACSL6_ENST00000379249.3_Intron|ACSL6_ENST00000379255.1_Intron|ACSL6_ENST00000296869.4_Intron|ACSL6_ENST00000431707.1_Missense_Mutation_p.H304D	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	324					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCAAACATGTGAGCCAGAGGC	0.527000													9	40					0	0	0.004482	0	0
AQP10	89872	broad.mit.edu	37	1	154293705	154293705	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr1:154293705T>A	ENST00000484864.1	+	1	110	c.74T>A	c.(73-75)cTg>cAg	p.L25Q	AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000324978.3_Missense_Mutation_p.L25Q			Q96PS8	AQP10_HUMAN	aquaporin 10	25					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CGGCAGTGCCTGGCAGAGTTT	0.557000													12	54					0	0	0.020292	0	0
GPX8	493869	broad.mit.edu	37	5	54456954	54456954	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr5:54456954G>A	ENST00000503787.1	+	2	412	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	CDC20B_ENST00000334206.5_Intron|GPX8_ENST00000506123.1_3'UTR|CDC20B_ENST00000381375.2_Intron|CDC20B_ENST00000331730.3_Intron|CDC20B_ENST00000296733.1_Intron|GPX8_ENST00000515370.1_Missense_Mutation_p.E62K|CDC20B_ENST00000322374.6_Intron|GPX8_ENST00000296734.6_Intron	NM_001008397.2	NP_001008398.2	Q8TED1	GPX8_HUMAN	glutathione peroxidase 8 (putative)	113					response to oxidative stress	integral to membrane	glutathione peroxidase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	TCAGTTTGGAGAATCGGAGCC	0.453000													4	81					0	0	0.014758	0	0
TTN	7273	broad.mit.edu	37	2	179481280	179481280	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr2:179481280C>A	ENST00000589042.1	-	257	48462	c.48238G>T	c.(48238-48240)Gat>Tat	p.D16080Y	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D14439Y|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D7207Y|TTN_ENST00000342992.6_Missense_Mutation_p.D13512Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D7015Y|TTN_ENST00000359218.5_Missense_Mutation_p.D7140Y|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14439	Ig-like 99.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCATCATCATCAGGTGGTTCC	0.433000													12	307					0.00136819	0.00147489	0.013537	1	0
KPNA4	3840	broad.mit.edu	37	3	160225999	160225999	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr3:160225999T>C	ENST00000334256.4	-	15	1573	c.1268A>G	c.(1267-1269)aAa>aGa	p.K423R		NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	karyopherin alpha 4 (importin alpha 3)	423					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TTGTGCATCTTTTACAGTCAG	0.338000													19	42					0	0	0.006122	0	0
ODF2L	57489	broad.mit.edu	37	1	86842004	86842004	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr1:86842004G>T	ENST00000359242.3	-	8	1003	c.722C>A	c.(721-723)gCt>gAt	p.A241D	ODF2L_ENST00000317336.7_Missense_Mutation_p.A241D|ODF2L_ENST00000370567.1_Missense_Mutation_p.A241D|ODF2L_ENST00000370566.3_Missense_Mutation_p.A241D|ODF2L_ENST00000394731.1_Missense_Mutation_p.A110D|ODF2L_ENST00000294678.2_Missense_Mutation_p.A241D	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	241						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		CTTTTTTAAAGCTACAGTTTT	0.358000													4	93					0.00909568	0.00967188	0.009096	1	0
APOO	79135	broad.mit.edu	37	X	23897065	23897065	+	Silent	SNP	T	T	C			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chrX:23897065T>C	ENST00000379226.4	-	3	435	c.204A>G	c.(202-204)cgA>cgG	p.R68R	APOO_ENST00000379220.3_Silent_p.R68R	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	68					lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						CGCAATAGTGTCGGAGCTGTG	0.463000													37	38					0	0	0.006999	0	0
MARK3	4140	broad.mit.edu	37	14	103941476	103941476	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr14:103941476A>T	ENST00000429436.2	+	13	1921	c.1411A>T	c.(1411-1413)Atg>Ttg	p.M471L	MARK3_ENST00000561071.1_Intron|MARK3_ENST00000416682.2_Missense_Mutation_p.M494L|MARK3_ENST00000335102.5_Missense_Mutation_p.M494L|MARK3_ENST00000303622.9_Missense_Mutation_p.M471L|MARK3_ENST00000216288.7_Missense_Mutation_p.M455L|MARK3_ENST00000553942.1_Missense_Mutation_p.M471L|MARK3_ENST00000440884.3_Missense_Mutation_p.M392L	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	471							ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			AGCCAGTCCCATGCTTGGGAA	0.473000													17	45					0	0	0.016522	0	0
THRAP3	9967	broad.mit.edu	37	1	36752273	36752274	+	Frame_Shift_Ins	INS	-	-	AATC			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr1:36752273_36752274insAATC	ENST00000354618.5	+	4	666_667	c.442_443insAATC	c.(442-444)gtcfs	p.V148fs	THRAP3_ENST00000469141.2_Frame_Shift_Ins_p.V148fs	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	148	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAACTCTGATAAGTCGTCTTCT	0.535			T	USP6	aneurysmal bone cysts								9	912	---	---	---	---					
GNG12-AS1	100289178	broad.mit.edu	37	1	68428155	68428156	+	RNA	DEL	TG	TG	-	rs34560712		TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr1:68428155_68428156delTG	ENST00000420587.1	+	0	134				GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000414904.1_RNA	NR_040077.1		Q6ZVV5	Q6ZVV5_HUMAN																			aagatcGCTCtgtgtgtgtgtg	0.480													3	4	---	---	---	---					
FILIP1	27145	broad.mit.edu	37	6	76024430	76024430	+	Frame_Shift_Del	DEL	T	T	-			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr6:76024430delT	ENST00000393004.2	-	5	1339	c.1118delA	c.(1117-1119)acfs	p.N373fs	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Frame_Shift_Del_p.N373fs|FILIP1_ENST00000370020.1_Frame_Shift_Del_p.N274fs			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	373				N -> D (in Ref. 3; BX647178).						breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GAGGCTAGAGTTTCCACATTC	0.413													29	384	---	---	---	---					
PCOLCE	5118	broad.mit.edu	37	7	100205413	100205414	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr7:100205413_100205414insC	ENST00000223061.5	+	8	1446_1447	c.1166_1167insC	c.(1165-1167)tccfs	p.S389fs		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	389	NTR.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	p.M392fs*>59(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGCAAGCAGTGCCCCCCCATGA	0.510													7	111	---	---	---	---					
C9orf152	401546	broad.mit.edu	37	9	112963553	112963554	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr9:112963553_112963554insG	ENST00000400613.4	-	2	1003_1004	c.394_395insC	c.(394-396)ggafs	p.G132fs	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	132										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						ACTGGTGTCCTGGGGGGAGGTT	0.564													7	764	---	---	---	---					
C12orf68	387856	broad.mit.edu	37	12	48578409	48578410	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr12:48578409_48578410insG	ENST00000316554.3	+	1	1044_1045	c.504_505insG	c.(502-507)ctggggfs	p.LG168fs		NM_001013635.3	NP_001013657.3	Q52MB2	CL068_HUMAN	chromosome 12 open reading frame 68	168						cytoplasm		p.D171fs*>25(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						CTGGTCTCCTTGGGGGGGACGG	0.658													3	5	---	---	---	---					
RNF219-AS1	100874222	broad.mit.edu	37	13	79066552	79066554	+	RNA	DEL	AAT	AAT	-	rs75155762		TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr13:79066552_79066554delAAT	ENST00000607862.1	+	0	315				RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000606803.1_RNA|RNF219-AS1_ENST00000605996.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000430549.2_RNA																							TGTGAAAAAAAATAATgaaagaa	0.399													3	6	---	---	---	---					
HS3ST6	64711	broad.mit.edu	37	16	1961899	1961899	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr16:1961899delG	ENST00000454677.2	-	2	837	c.772delC	c.(772-774)tgfs	p.L258fs	HS3ST6_ENST00000443547.1_Frame_Shift_Del_p.L210fs|HS3ST6_ENST00000293937.3_Frame_Shift_Del_p.L241fs			C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	210										endometrium(2)|lung(2)	4						AAGTGGGACAGGGGGAAGTAG	0.706													8	29	---	---	---	---					
CPAMD8	27151	broad.mit.edu	37	19	17039000	17039000	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr19:17039000delG	ENST00000443236.1	-	25	3361	c.3330delC	c.(3328-3330)gcfs	p.A1110fs		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1063						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGAGGGTCCAGGCCACAATGA	0.582													10	52	---	---	---	---					
HPN-AS1	100128675	broad.mit.edu	37	19	35565773	35565774	+	RNA	INS	-	-	C			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chr19:35565773_35565774insC	ENST00000392227.2	-	0	404					NR_024562.1																						CTTCCTCACTTCCCCCAGTTCT	0.644													3	4	---	---	---	---					
FAM47C	442444	broad.mit.edu	37	X	37029390	37029391	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z059-01A-01W-0747-08	TCGA-17-Z059-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88ec6fb4-1b81-422e-8204-ef9e8dbf260c	a7792af9-976e-44a2-b6df-4f450205ec29	g.chrX:37029390_37029391insC	ENST00000358047.3	+	1	2959_2960	c.2907_2908insC	c.(2905-2910)gaccgafs	p.R970fs		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	970										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGCCTGATGAACCCGACATTCT	0.455													23	71	---	---	---	---					
