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
ORC5	5001	broad.mit.edu	37	7	103808892	103808892	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:103808892G>C	ENST00000447452.2	-	9	958	c.906C>G	c.(904-906)acC>acG	p.T302T	ORC5_ENST00000297431.4_Intron|ORC5_ENST00000545943.1_Intron	NM_181747.3	NP_859531.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	0					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						AAGTATCTCCGGTAACTGTCT	0.358000													5	127					0	0	0.000602214	0	0
PTPN22	26191	broad.mit.edu	37	1	114402026	114402026	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:114402026C>G	ENST00000359785.5	-	2	279	c.144G>C	c.(142-144)gtG>gtC	p.V48V	PTPN22_ENST00000460620.1_Silent_p.V48V|PTPN22_ENST00000528414.1_Silent_p.V48V|PTPN22_ENST00000525799.1_Silent_p.V48V|PTPN22_ENST00000534519.1_5'UTR|PTPN22_ENST00000538253.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA|PTPN22_ENST00000420377.2_Silent_p.V48V	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	48	Tyrosine-protein phosphatase.				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTTCTCAGCCACAGTTGTAG	0.348000													4	190					0	0	0.000602214	0	0
GRIA3	2892	broad.mit.edu	37	X	122551581	122551581	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:122551581G>T	ENST00000264357.5	+	11	2121	c.1829G>T	c.(1828-1830)tGg>tTg	p.W610L	GRIA3_ENST00000542149.1_Missense_Mutation_p.W610L|GRIA3_ENST00000371251.1_Missense_Mutation_p.W610L|GRIA3_ENST00000371256.5_Missense_Mutation_p.W610L|GRIA3_ENST00000541091.1_Missense_Mutation_p.W594L	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	610					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	AACAGTCTTTGGTTTTCCTTG	0.408000													11	145					4.3838e-07	8.16657e-06	0.000151284	1	0
GLDC	2731	broad.mit.edu	37	9	6645247	6645247	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:6645247C>T	ENST00000321612.6	-	1	403	c.253G>A	c.(253-255)Gcg>Acg	p.A85T		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	85					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	GTCCTTACCGCCAGCCCCAAG	0.706000													3	3					0	0	6.4e-05	0	0
SAMM50	25813	broad.mit.edu	37	22	44364650	44364650	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:44364650C>A	ENST00000350028.4	+	4	431	c.274C>A	c.(274-276)Cgt>Agt	p.R92S	SAMM50_ENST00000396202.3_5'UTR|SAMM50_ENST00000493161.1_3'UTR	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	92					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				AAAATTGCTCCGTCTTGGAAT	0.363000													6	169					0.000274275	0.0038898	0.000274275	1	0
LRP1B	53353	broad.mit.edu	37	2	141641395	141641395	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:141641395G>T	ENST00000389484.3	-	25	5131	c.4160C>A	c.(4159-4161)cCa>cAa	p.P1387Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1387					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCCATATCTTGGGTCCAAAGC	0.378000										TSP Lung(27;0.18)			6	101					0.000274275	0.0038898	0.000274275	1	0
WDR55	54853	broad.mit.edu	37	5	140048015	140048015	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:140048015C>G	ENST00000358337.5	+	3	545	c.308C>G	c.(307-309)tCc>tGc	p.S103C		NM_017706.4	NP_060176.2	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	103					rRNA processing	cytoplasm|nucleolus				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTACTGTCTCCAAGGACAAA	0.527000													4	173					0	0	3.59834e-05	0	0
TC2N	123036	broad.mit.edu	37	14	92249550	92249550	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:92249550C>A	ENST00000435962.2	-	12	1690	c.1367G>T	c.(1366-1368)tGg>tTg	p.W456L	TC2N_ENST00000360594.5_Missense_Mutation_p.W456L|TC2N_ENST00000340892.5_Missense_Mutation_p.W456L|TC2N_ENST00000556018.1_Missense_Mutation_p.W392L	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	456	C2.					nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TTCACTTATCCAAATCTGTAA	0.323000													9	103					9.31168e-06	0.000163173	0.000151284	1	0
CDC42BPB	9578	broad.mit.edu	37	14	103434927	103434927	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:103434927G>C	ENST00000361246.2	-	15	2410	c.2122C>G	c.(2122-2124)Cat>Gat	p.H708D		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	708					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TCTAGCACATGGGAGGCCTCA	0.428000													6	187					0	0	0.000274275	0	0
PPL	5493	broad.mit.edu	37	16	4933624	4933624	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:4933624C>G	ENST00000345988.2	-	22	5121	c.5032G>C	c.(5032-5034)Ggg>Cgg	p.G1678R	PPL_ENST00000590782.2_Missense_Mutation_p.G1676R	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1678					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCAATGAGCCCGGCACGGTGG	0.612000													4	103					0	0	8.12818e-05	0	0
FAM227B	196951	broad.mit.edu	37	15	49860534	49860534	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:49860534C>T	ENST00000299338.6	-	9	958	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	FAM227B_ENST00000561064.1_Intron	NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		TCTTGGTTTTCTCTGTCAGGC	0.308000													6	38					0	0	0.000157383	0	0
ZNF254	9534	broad.mit.edu	37	19	24310186	24310186	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:24310186T>C	ENST00000357002.4	+	4	1499	c.1384T>C	c.(1384-1386)Tac>Cac	p.Y462H	ZNF254_ENST00000342944.6_Missense_Mutation_p.Y377H	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	462					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AGAGAAACCCTACAAATGTGA	0.398000													9	62					0	0	0.000274275	0	0
TFIP11	24144	broad.mit.edu	37	22	26899725	26899725	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:26899725C>A	ENST00000407690.1	-	7	838	c.555G>T	c.(553-555)aaG>aaT	p.K185N	TFIP11_ENST00000407431.1_Missense_Mutation_p.K185N|TFIP11_ENST00000405938.1_Missense_Mutation_p.K185N|TFIP11_ENST00000496523.1_5'UTR|TFIP11_ENST00000407148.1_Missense_Mutation_p.K185N	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	185	G-patch.				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CACCTTTTCCCTTTCTCTGCT	0.458000													7	88					0.000442599	0.00584094	0.000442599	1	0
SENP8	123228	broad.mit.edu	37	15	72432142	72432142	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:72432142C>T	ENST00000544411.1	+	3	665	c.178C>T	c.(178-180)Cag>Tag	p.Q60*	SENP8_ENST00000542035.2_Nonsense_Mutation_p.Q60*|SENP8_ENST00000544171.1_Nonsense_Mutation_p.Q60*|SENP8_ENST00000340912.4_Nonsense_Mutation_p.Q60*	NM_001172109.1|NM_001172110.1	NP_001165580.1|NP_001165581.1	Q96LD8	SENP8_HUMAN	SUMO/sentrin specific peptidase family member 8	60	Protease.				proteolysis		cysteine-type peptidase activity|protein binding			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						TGAAGTCACCCAGTTCATCAA	0.448000													6	194					0	0	3.59834e-05	0	0
TENM2	57451	broad.mit.edu	37	5	167687348	167687348	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:167687348C>G	ENST00000519204.1	+	27	7248	c.7130C>G	c.(7129-7131)cCg>cGg	p.P2377R	TENM2_ENST00000520394.1_Missense_Mutation_p.P2259R|TENM2_ENST00000545108.1_Missense_Mutation_p.P2497R|TENM2_ENST00000518659.1_Missense_Mutation_p.P2498R|TENM2_ENST00000403607.2_Missense_Mutation_p.P2322R					teneurin transmembrane protein 2																		CCTGGCTTCCCGAGAGCCAAA	0.423000													5	141					0	0	3.59834e-05	0	0
HCFC1	3054	broad.mit.edu	37	X	153220600	153220600	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:153220600C>T	ENST00000310441.7	-	17	4216	c.3250G>A	c.(3250-3252)Gag>Aag	p.E1084K	HCFC1_ENST00000354233.3_Missense_Mutation_p.E1015K|HCFC1_ENST00000369984.4_Missense_Mutation_p.E1084K	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1084					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					gtgCCCGTCTCGTGGGTCTCG	0.647000													7	72					0	0	8.12818e-05	0	0
LETM2	137994	broad.mit.edu	37	8	38250102	38250102	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:38250102C>T	ENST00000519476.2	+	3	390	c.90C>T	c.(88-90)tcC>tcT	p.S30S	LETM2_ENST00000379957.4_Silent_p.S30S|LETM2_ENST00000523983.2_Intron|LETM2_ENST00000524874.1_Silent_p.S30S|LETM2_ENST00000297720.5_Intron			Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	30						integral to membrane|mitochondrial inner membrane				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			CTTCTTATTCCCCATCATGTG	0.403000													6	228					0	0	0.000157383	0	0
CCDC146	57639	broad.mit.edu	37	7	76888342	76888342	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:76888342G>C	ENST00000285871.4	+	7	842	c.715G>C	c.(715-717)Gta>Cta	p.V239L	CCDC146_ENST00000431197.1_5'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	239										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AACCATTCCAGTACAAATTGG	0.343000													4	88					0	0	0.00024832	0	0
LRRC16B	90668	broad.mit.edu	37	14	24523675	24523675	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:24523675C>A	ENST00000342740.5	+	5	471	c.317C>A	c.(316-318)aCa>aAa	p.T106K	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	106										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GACCAGGTGACACGACATGTG	0.577000													6	69					3.59834e-05	0.000600898	3.59834e-05	1	0
KIAA1199	57214	broad.mit.edu	37	15	81171147	81171147	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:81171147G>C	ENST00000394685.3	+	4	599	c.180G>C	c.(178-180)caG>caC	p.Q60H	KIAA1199_ENST00000356249.5_Missense_Mutation_p.Q60H|KIAA1199_ENST00000220244.3_Missense_Mutation_p.Q60H			Q8WUJ3	K1199_HUMAN	KIAA1199	60	G8.									breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ATATCGGCCAGGGCAAGACAC	0.587000													4	100					0	0	0.00024832	0	0
CHP1	11261	broad.mit.edu	37	15	41562799	41562799	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:41562799C>G	ENST00000334660.5	+	5	634	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	CHP1_ENST00000558351.1_3'UTR|CHP1_ENST00000560397.1_Missense_Mutation_p.R132G	NM_007236.4	NP_009167.1	Q99653	CHP1_HUMAN	calcineurin-like EF-hand protein 1	132	EF-hand 3.				potassium ion transport|small GTPase mediated signal transduction		potassium channel regulator activity										AAAGATCTCCCGTGATGAGCT	0.413000													4	145					0	0	8.12818e-05	0	0
TRAM1	23471	broad.mit.edu	37	8	71495998	71495998	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:71495998C>A	ENST00000521425.1	-	9	1555	c.519G>T	c.(517-519)ttG>ttT	p.L173F	TRAM1_ENST00000262213.2_Missense_Mutation_p.L259F|TRAM1_ENST00000521049.1_5'UTR|TRAM1_ENST00000536748.1_Missense_Mutation_p.L228F			Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	259	TLC.				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			GAAGTCTTCCCAAAACAAAAA	0.368000													7	141					0.000157383	0.00236471	0.000157383	1	0
RIOK1	83732	broad.mit.edu	37	6	7396959	7396959	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:7396959G>C	ENST00000379834.2	+	4	898	c.391G>C	c.(391-393)Gtc>Ctc	p.V131L		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	131							ATP binding|protein serine/threonine kinase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					TACTGATTCCGTCATAAATAA	0.313000													4	306					0	0	0.000157383	0	0
METTL6	131965	broad.mit.edu	37	3	15466506	15466506	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:15466506C>A	ENST00000443029.1	-	3	556	c.316G>T	c.(316-318)Gcc>Tcc	p.A106S	METTL6_ENST00000383789.5_Missense_Mutation_p.A106S|METTL6_ENST00000450816.2_Intron|METTL6_ENST00000383790.3_Missense_Mutation_p.A106S			Q8TCB7	METL6_HUMAN	methyltransferase like 6	106							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						CAGGCATAGGCAAAGATATTC	0.398000													5	89					8.12818e-05	0.00129777	8.12818e-05	1	0
KIF4B	285643	broad.mit.edu	37	5	154394324	154394324	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:154394324G>A	ENST00000435029.4	+	1	1065	c.905G>A	c.(904-906)gGa>gAa	p.G302E		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	302	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GATTCTCTAGGAGGTAACAGC	0.448000													59	160					0	0	0.000781405	0	0
NDUFB2	4708	broad.mit.edu	37	7	140402763	140402763	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:140402763T>C	ENST00000476279.1	+	2	270	c.196T>C	c.(196-198)Tgg>Cgg	p.W66R	NDUFB2_ENST00000247866.4_Missense_Mutation_p.W66R|NDUFB2_ENST00000471136.1_Missense_Mutation_p.W54R|NDUFB2_ENST00000482954.1_Missense_Mutation_p.W2R|NDUFB2_ENST00000461457.1_Intron|NDUFB2_ENST00000464564.2_3'UTR|NDUFB2_ENST00000204307.5_Missense_Mutation_p.W56R|NDUFB2_ENST00000472695.1_Missense_Mutation_p.W2R|NDUFB2_ENST00000460088.1_Missense_Mutation_p.W2R|NDUFB2_ENST00000476470.1_Missense_Mutation_p.W2R|NDUFB2_ENST00000465506.1_Missense_Mutation_p.W66R|NDUFB2_ENST00000475276.1_Missense_Mutation_p.W39R			O95178	NDUB2_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa	66					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|stomach(1)	10	Melanoma(164;0.00956)				NADH(DB00157)	CGGACTCATGTGGTTCTGGAT	0.557000													6	223					0	0	3.59834e-05	0	0
NOP2	4839	broad.mit.edu	37	12	6666414	6666414	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:6666414C>G	ENST00000541778.1	-	16	2660	c.2172G>C	c.(2170-2172)ccG>ccC	p.P724P	NOP2_ENST00000399466.2_Silent_p.P724P|NOP2_ENST00000545200.1_3'UTR|NOP2_ENST00000537442.1_Silent_p.P728P|NOP2_ENST00000542015.1_5'UTR|NOP2_ENST00000382421.3_Silent_p.P761P|NOP2_ENST00000322166.5_Silent_p.P728P			P46087	NOP2_HUMAN	NOP2 nucleolar protein	728					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						ATAACACAGCCGGTGTTTGTG	0.537000													5	245					0	0	0.000157383	0	0
KDM5B	10765	broad.mit.edu	37	1	202702639	202702639	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:202702639G>T	ENST00000367265.3	-	23	4963	c.3799C>A	c.(3799-3801)Cag>Aag	p.Q1267K	KDM5B_ENST00000367264.2_Missense_Mutation_p.Q1303K	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1267					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.Q1267*(2)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AGCAGTTGCTGGGCTCTGTGC	0.522000													7	146					0.000274275	0.0038898	0.000274275	1	0
PNLIPRP3	119548	broad.mit.edu	37	10	118203952	118203952	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:118203952G>C	ENST00000369230.3	+	4	529	c.383G>C	c.(382-384)cGg>cCg	p.R128P		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	128					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AACGGTTCACGGGAATACATC	0.328000													4	94					0	0	0.00024832	0	0
SCD	6319	broad.mit.edu	37	10	102108059	102108059	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:102108059G>T	ENST00000370355.2	+	2	647	c.266G>T	c.(265-267)gGg>gTg	p.G89V		NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	89					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		GCCCTGTATGGGATCACTTTG	0.507000													8	122					0.000274275	0.0038898	0.000274275	1	0
ZNF362	149076	broad.mit.edu	37	1	33760881	33760881	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:33760881G>A	ENST00000539719.1	+	8	1291	c.1121G>A	c.(1120-1122)aGc>aAc	p.S374N	ZNF362_ENST00000373428.5_Missense_Mutation_p.S374N	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TACTGCTGCAGCATGTGTGGG	0.632000											OREG0013342	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	25					0	0	0.000274275	0	0
GPLD1	2822	broad.mit.edu	37	6	24436820	24436820	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:24436820G>T	ENST00000230036.1	-	22	2452	c.2342C>A	c.(2341-2343)cCa>cAa	p.P781Q		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	781						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						TTCTGGACATGGAGTTATCCA	0.398000													8	137					0.000442599	0.00584094	0.000442599	1	0
PSMD7	5713	broad.mit.edu	37	16	74335514	74335514	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:74335514C>A	ENST00000219313.4	+	4	461	c.321C>A	c.(319-321)gcC>gcA	p.A107A	PSMD7_ENST00000540379.1_Silent_p.A30A|PSMD7_ENST00000568615.2_Silent_p.A107A|PSMD7_ENST00000567958.1_Silent_p.A107A	NM_002811.4	NP_002802.2	P51665	PSD7_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 7	107	MPN.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						ATGACATTGCCATCAACGAAC	0.388000													7	149					1.33987e-11	2.63252e-10	0.000673444	1	0
SEL1L	6400	broad.mit.edu	37	14	81993128	81993128	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:81993128G>C	ENST00000336735.4	-	3	405	c.289C>G	c.(289-291)Cca>Gca	p.P97A	SEL1L_ENST00000555824.1_Missense_Mutation_p.P97A	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	97	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TCTGGATTTGGAGACTCTAGA	0.408000													4	163					0	0	0.00024832	0	0
GEMIN6	79833	broad.mit.edu	37	2	39008704	39008704	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:39008704C>G	ENST00000281950.2	+	3	290	c.174C>G	c.(172-174)acC>acG	p.T58T	GEMIN6_ENST00000409566.1_3'UTR|GEMIN6_ENST00000409011.1_3'UTR	NM_024775.9	NP_079051.9	Q8WXD5	GEMI6_HUMAN	gem (nuclear organelle) associated protein 6	58					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding			kidney(1)|large_intestine(3)|pancreas(1)	5		all_hematologic(82;0.21)				TGTCTGTGACCGGAATTATGG	0.443000													4	163					0	0	0.00024832	0	0
SPARCL1	8404	broad.mit.edu	37	4	88411453	88411453	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:88411453G>T	ENST00000418378.1	-	8	2074	c.1503C>A	c.(1501-1503)ctC>ctA	p.L501L	SPARCL1_ENST00000503414.1_Silent_p.L376L|SPARCL1_ENST00000282470.6_Silent_p.L501L	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	501	Kazal-like.				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		AATCCAGCTGGAGTTGATGCC	0.463000													8	164					0.000442599	0.00584094	0.000442599	1	0
C10orf68	79741	broad.mit.edu	37	10	33017835	33017835	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:33017835G>A	ENST00000375030.2	+	12	1252	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K	C10orf68_ENST00000375025.4_Missense_Mutation_p.E204K|C10orf68_ENST00000375028.3_Missense_Mutation_p.E180K			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	204										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						AGTACCAAATGAAAATGTGAT	0.294000													9	74					0	0	0.000274275	0	0
THUMPD2	80745	broad.mit.edu	37	2	39983097	39983097	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:39983097C>G	ENST00000505747.1	-	7	922	c.895G>C	c.(895-897)Ggt>Cgt	p.G299R	THUMPD2_ENST00000260619.6_Missense_Mutation_p.G269R	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	299							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				ACAAATGCACCAGCCTGCAGA	0.338000													4	82					0	0	0.00024832	0	0
FCGR3A	2214	broad.mit.edu	37	1	161518234	161518234	+	Missense_Mutation	SNP	G	G	C	rs145557772		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:161518234G>C	ENST00000367969.3	-	3	587	c.404C>G	c.(403-405)cCg>cGg	p.P135R	FCGR3A_ENST00000443193.1_Missense_Mutation_p.P134R|FCGR3A_ENST00000540048.1_Missense_Mutation_p.P99R|FCGR3A_ENST00000436743.1_Missense_Mutation_p.P99R|FCGR3A_ENST00000476031.1_5'UTR	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	99	Ig-like C2-type 2.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TAGCTGCACCGGGTCACTGAG	0.512000													4	102					0	0	3.59834e-05	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50664313	50664313	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:50664313C>T	ENST00000439308.2	-	10	2385	c.1893G>A	c.(1891-1893)gaG>gaA	p.E631E	TUBGCP6_ENST00000248846.5_Silent_p.E631E|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	631					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CCTTCAACTCCTCAAGGGAGA	0.597000													4	58					0	0	3.59834e-05	0	0
PTPRF	5792	broad.mit.edu	37	1	44069168	44069168	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:44069168C>G	ENST00000359947.4	+	15	2762	c.2422C>G	c.(2422-2424)Cgc>Ggc	p.R808G	PTPRF_ENST00000422171.2_Missense_Mutation_p.R156G|PTPRF_ENST00000438120.1_Missense_Mutation_p.R799G|PTPRF_ENST00000372414.3_Missense_Mutation_p.R808G|PTPRF_ENST00000372413.3_Missense_Mutation_p.R799G|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	808	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGATGGTGCCCGCAGCAAGCC	0.627000													5	77					0	0	0.000602214	0	0
AEN	64782	broad.mit.edu	37	15	89173301	89173301	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:89173301G>A	ENST00000332810.3	+	4	905	c.754G>A	c.(754-756)Ggg>Agg	p.G252R	AEN_ENST00000379231.3_Missense_Mutation_p.G252R	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	252	Exonuclease.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						GGGCCAGCACGGGCACTCATC	0.617000													5	108					0	0	8.12818e-05	0	0
TUBD1	51174	broad.mit.edu	37	17	57958453	57958453	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:57958453G>T	ENST00000325752.3	-	4	616	c.339C>A	c.(337-339)ccC>ccA	p.P113P	TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000376094.4_Silent_p.P113P|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000340993.6_Silent_p.P113P|TUBD1_ENST00000394239.3_Silent_p.P113P|TUBD1_ENST00000592426.1_Silent_p.P113P|TUBD1_ENST00000591611.1_Intron	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	113					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			CTTCATGCCTGGGTCCATGAA	0.378000													7	155					0.000274275	0.0038898	0.000274275	1	0
CR1L	1379	broad.mit.edu	37	1	207818628	207818628	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:207818628C>G	ENST00000508064.2	+	1	110	c.50C>G	c.(49-51)cCt>cGt	p.P17R		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	17						cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CGGCGCTTTCCTGGGTTGCTT	0.662000													4	119					0	0	3.59834e-05	0	0
CCNA1	8900	broad.mit.edu	37	13	37016407	37016407	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:37016407C>A	ENST00000418263.1	+	8	1659	c.1309C>A	c.(1309-1311)Cag>Aag	p.Q437K	CCNA1_ENST00000440264.1_Missense_Mutation_p.Q394K|CCNA1_ENST00000255465.4_Missense_Mutation_p.Q438K|CCNA1_ENST00000449823.1_Missense_Mutation_p.Q394K	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	438					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CCATCGACCTCAGCAAGCAAT	0.398000													7	110					0.000157383	0.00236471	0.000157383	1	0
GLIPR1L2	144321	broad.mit.edu	37	12	75807385	75807385	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:75807385G>T	ENST00000550916.1	+	3	535	c.488G>T	c.(487-489)tGg>tTg	p.W163L	GLIPR1L2_ENST00000435775.1_Intron|GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.W163L|GLIPR1L2_ENST00000547164.1_Intron|GLIPR1L2_ENST00000441218.1_Missense_Mutation_p.W98L|GLIPR1L2_ENST00000378692.3_Missense_Mutation_p.W56L	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	163						integral to membrane				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						TAGCTTGTTTGGGACCACTCT	0.294000													9	140					0.000442599	0.00584094	0.000442599	1	0
ANKRD17	26057	broad.mit.edu	37	4	73941991	73941991	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:73941991C>G	ENST00000358602.4	-	34	7885	c.7769G>C	c.(7768-7770)tGg>tCg	p.W2590S	ANKRD17_ENST00000330838.6_Missense_Mutation_p.W2339S|ANKRD17_ENST00000509867.2_Missense_Mutation_p.W2477S	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2590					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTGAGGTGCCCAGGGTCCAGT	0.373000													4	86					0	0	8.12818e-05	0	0
RELN	5649	broad.mit.edu	37	7	103236920	103236920	+	Silent	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:103236920T>C	ENST00000424685.2	-	25	3681	c.3522A>G	c.(3520-3522)tcA>tcG	p.S1174S	RELN_ENST00000428762.1_Silent_p.S1174S|RELN_ENST00000343529.5_Silent_p.S1174S			P78509	RELN_HUMAN	reelin	1174					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)		TGCTGAAGTCTGAAAAGTACA	0.473000													4	138					0	0	3.59834e-05	0	0
LPAL2	80350	broad.mit.edu	37	6	160921913	160921913	+	RNA	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:160921913G>A	ENST00000335388.5	-	0	225					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		TATGTGCCTCGATAACTCTGT	0.463000													39	145					0	0	0.000191422	0	0
RP11-50E11.3	0	broad.mit.edu	37	10	52390485	52390485	+	RNA	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:52390485G>A	ENST00000443374.1	+	0	1178																											CTGCAGGGATGAAATCTGGAT	0.443000													19	86					0	0	0.000132079	0	0
PDIA4	9601	broad.mit.edu	37	7	148701264	148701264	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:148701264G>T	ENST00000286091.4	-	10	1792	c.1560C>A	c.(1558-1560)ccC>ccA	p.P520P		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	520	Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			TGTTGTTCTTGGGCACTGGCT	0.557000													9	223					0.000219431	0.00327883	0.000219431	1	0
JPH4	84502	broad.mit.edu	37	14	24040151	24040151	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:24040151T>C	ENST00000397118.3	-	6	2691	c.1789A>G	c.(1789-1791)Agg>Ggg	p.R597G	JPH4_ENST00000544177.1_Missense_Mutation_p.R262G|JPH4_ENST00000356300.4_Missense_Mutation_p.R597G	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	597					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		TGGGCAGGCCTCTCGGTTGCA	0.657000													4	33					0	0	0.00024832	0	0
FAM126B	285172	broad.mit.edu	37	2	201857033	201857033	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:201857033G>T	ENST00000418596.2	-	10	989	c.802C>A	c.(802-804)Cag>Aag	p.Q268K	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	268						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						AGCTCTAGCTGGGCTCTATAA	0.333000													8	159					0.000442599	0.00584094	0.000442599	1	0
ZC3H13	23091	broad.mit.edu	37	13	46594628	46594628	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:46594628G>C	ENST00000242848.4	-	5	752	c.404C>G	c.(403-405)cCa>cGa	p.P135R	ZC3H13_ENST00000282007.3_Missense_Mutation_p.P135R			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	135							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TTCACTTTCTGGAGTTCTTTC	0.318000													4	98					0	0	3.59834e-05	0	0
ACOX1	51	broad.mit.edu	37	17	73951755	73951755	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:73951755G>C	ENST00000537812.1	-	6	1200	c.552C>G	c.(550-552)acC>acG	p.T184T	ACOX1_ENST00000301608.4_Silent_p.T222T|ACOX1_ENST00000293217.5_Silent_p.T222T	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	222					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						TGTCACCAACGGTAATTCCTA	0.443000													4	72					0	0	3.59834e-05	0	0
OR5P3	120066	broad.mit.edu	37	11	7847334	7847334	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:7847334G>A	ENST00000328375.1	-	1	185	c.186C>T	c.(184-186)ttC>ttT	p.F62F	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AATGGCAGAGGAAAATGTACA	0.408000													11	90					0	0	6.40141e-05	0	0
MYH4	4622	broad.mit.edu	37	17	10346754	10346754	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:10346754G>C	ENST00000255381.2	-	40	5868	c.5758C>G	c.(5758-5760)Caa>Gaa	p.Q1920E	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1920					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTGTTGACTTGGGACTCAGCA	0.468000													4	132					0	0	0.00024832	0	0
AFF4	27125	broad.mit.edu	37	5	132228022	132228022	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:132228022G>T	ENST00000265343.5	-	13	2850	c.2471C>A	c.(2470-2472)cCa>cAa	p.P824Q	AFF4_ENST00000378595.3_Missense_Mutation_p.P824Q	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	824					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCTGTTTTTGGATCTTTTGA	0.463000													9	175					0.000673444	0.0084606	0.000673444	1	0
MIA3	375056	broad.mit.edu	37	1	222803493	222803493	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:222803493G>T	ENST00000344922.5	+	4	2956	c.2931G>T	c.(2929-2931)aaG>aaT	p.K977N	MIA3_ENST00000344441.6_Missense_Mutation_p.K977N|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	977					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TCCTAGATAAGGTCTTCCGTG	0.423000													11	471					9.31168e-06	0.000163173	0.000151284	1	0
TCTN3	26123	broad.mit.edu	37	10	97442448	97442448	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:97442448C>A	ENST00000265993.8	-	12	1655	c.1412G>T	c.(1411-1413)gGa>gTa	p.G471V	TCTN3_ENST00000430368.1_Missense_Mutation_p.G323V|TCTN3_ENST00000371217.4_Missense_Mutation_p.G484V	NM_015631.5	NP_056446.4	Q6NUS6	TECT3_HUMAN	tectonic family member 3	471					apoptosis	integral to membrane				breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		GGTCCACCCTCCTTTCTGGGC	0.468000													8	146					0.000442599	0.00584094	0.000442599	1	0
AKT2	208	broad.mit.edu	37	19	40745986	40745986	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:40745986C>G	ENST00000392038.2	-	7	903	c.605G>C	c.(604-606)cGg>cCg	p.R202P	AKT2_ENST00000424901.1_Missense_Mutation_p.R202P|AKT2_ENST00000579047.1_Missense_Mutation_p.R140P|AKT2_ENST00000311278.6_Missense_Mutation_p.R202P	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	202	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			CTGGAGGACCCGGCTCTCGGT	0.637000			A		"""ovarian, pancreatic """								5	155					0	0	0.000442599	0	0
ITGA6	3655	broad.mit.edu	37	2	173292637	173292637	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:173292637G>T	ENST00000375221.2	+	1	324	c.121G>T	c.(121-123)Ggg>Tgg	p.G41W	ITGA6_ENST00000409532.1_Intron|ITGA6_ENST00000409080.1_Missense_Mutation_p.G41W|ITGA6_ENST00000343713.4_Missense_Mutation_p.G41W|ITGA6_ENST00000264106.6_Missense_Mutation_p.G41W|ITGA6_ENST00000264107.7_Missense_Mutation_p.G41W|AC078883.4_ENST00000441212.1_RNA			P23229	ITA6_HUMAN	integrin, alpha 6	41					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TGGAGACCCCGGGAGCCTCTT	0.657000													4	47					3.59834e-05	0.000600898	3.59834e-05	1	0
PRR12	57479	broad.mit.edu	37	19	50097748	50097748	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:50097748G>C	ENST00000418929.2	+	3	249	c.237G>C	c.(235-237)gcG>gcC	p.A79A		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	480	Pro-rich.						DNA binding	p.A79A(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TCCACCACGCGGGCTCAGCAG	0.657000													5	106					0	0	0.000157383	0	0
DYNAP	284254	broad.mit.edu	37	18	52258570	52258570	+	Splice_Site	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:52258570G>C	ENST00000321600.1	+	1	181	c.135_splice	c.e1+1	p.P45_splice	DYNAP_ENST00000585973.1_Splice_Site_p.P48_splice	NM_173629.1	NP_775900.1			dynactin associated protein																		AAAACCAGCCGGTGAGTGTCC	0.368000													4	101					0	0	3.59834e-05	0	0
SQLE	6713	broad.mit.edu	37	8	126017790	126017790	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:126017790C>G	ENST00000265896.5	+	3	1466	c.568C>G	c.(568-570)Cag>Gag	p.Q190E	SQLE_ENST00000523430.1_Missense_Mutation_p.Q95E	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	190					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TCTTGATGCCCAGGTTGTAAA	0.413000													5	206					0	0	8.12818e-05	0	0
CCNE2	9134	broad.mit.edu	37	8	95897703	95897703	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:95897703G>T	ENST00000520509.1	-	8	936	c.684C>A	c.(682-684)ctC>ctA	p.L228L	CCNE2_ENST00000308108.4_Silent_p.L228L|CCNE2_ENST00000523476.1_5'UTR|CCNE2_ENST00000396133.3_Silent_p.L228L			O96020	CCNE2_HUMAN	cyclin E2	228					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					TTAATATAATGAGTTCCATCC	0.299000													17	408					0.000295444	0.00418604	0.000295444	1	0
TMEM130	222865	broad.mit.edu	37	7	98453743	98453743	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:98453743G>C	ENST00000450876.1	-	4	1678	c.363C>G	c.(361-363)acC>acG	p.T121T	TMEM130_ENST00000345589.4_Silent_p.T103T|TMEM130_ENST00000546258.1_Silent_p.T186T|TMEM130_ENST00000416379.2_Silent_p.T205T|TMEM130_ENST00000339375.4_Silent_p.T205T			Q8N3G9	TM130_HUMAN	transmembrane protein 130	205						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGAGCTTCACGGTGAAGGTCC	0.572000													4	97					0	0	0.00024832	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54604103	54604103	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:54604103G>T	ENST00000474759.1	+	8	908	c.860G>T	c.(859-861)gGg>gTg	p.G287V	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.G193V|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.G287V|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.G287V	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	287	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GATACACTTGGGGATGATGAC	0.443000													9	140					0.000673444	0.0084606	0.000673444	1	0
PTPRM	5797	broad.mit.edu	37	18	8387086	8387086	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:8387086G>C	ENST00000332175.8	+	29	5059	c.4022G>C	c.(4021-4023)cGg>cCg	p.R1341P	PTPRM_ENST00000400053.4_Missense_Mutation_p.R1279P|PTPRM_ENST00000444013.1_Missense_Mutation_p.R1128P|PTPRM_ENST00000580170.1_Missense_Mutation_p.R1354P|PTPRM_ENST00000400060.4_Missense_Mutation_p.R1355P	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1341	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GATGGATATCGGATGGTGCAG	0.502000													4	127					0	0	3.59834e-05	0	0
OR5D16	390144	broad.mit.edu	37	11	55607046	55607046	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:55607046C>T	ENST00000378396.1	+	1	819	c.819C>T	c.(817-819)gtC>gtT	p.V273V		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GGCACACAGTCAAAGTGGCCT	0.478000													6	64					0	0	0.000157383	0	0
SSB	6741	broad.mit.edu	37	2	170664991	170664991	+	Splice_Site	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:170664991G>T	ENST00000409333.1	+	7	801		c.e7-1		SSB_ENST00000260956.4_Splice_Site			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)						histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GTGTTCTTTAGGGACGATTAC	0.338000													9	174					3.07112e-06	5.5112e-05	6.40141e-05	1	0
RPA2	6118	broad.mit.edu	37	1	28233734	28233734	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:28233734C>A	ENST00000373912.3	-	3	476	c.177G>T	c.(175-177)ttG>ttT	p.L59F	RPA2_ENST00000313433.7_Missense_Mutation_p.L147F|RPA2_ENST00000373909.3_Missense_Mutation_p.L67F	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa	59					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body	protein phosphatase binding|single-stranded DNA binding	p.L147F(1)|p.L59F(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCATCAACCAAAGTGGCAG	0.353000								Direct reversal of damage;Nucleotide excision repair (NER)					10	293					1.5842e-08	3.05422e-07	0.000151284	1	0
MUSK	4593	broad.mit.edu	37	9	113510077	113510077	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:113510077G>A	ENST00000416899.2	+	7	1036	c.910G>A	c.(910-912)Gca>Aca	p.A304T	MUSK_ENST00000189978.5_Missense_Mutation_p.A304T|MUSK_ENST00000374448.4_Missense_Mutation_p.A304T			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	304					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CATCAGCATAGCAGGTAGGAT	0.468000													5	48					0	0	0.000602214	0	0
APOB	338	broad.mit.edu	37	2	21252533	21252533	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:21252533C>G	ENST00000233242.1	-	12	1722	c.1595G>C	c.(1594-1596)cGg>cCg	p.R532P	APOB_ENST00000399256.4_Missense_Mutation_p.R532P	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	532	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTCCATTTTCCGCAGAGCCTG	0.428000													5	396					0	0	0.000442599	0	0
GRIN2A	2903	broad.mit.edu	37	16	9916226	9916226	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:9916226C>T	ENST00000396573.2	-	11	2372	c.2063G>A	c.(2062-2064)gGa>gAa	p.G688E	GRIN2A_ENST00000404927.2_Missense_Mutation_p.G688E|GRIN2A_ENST00000396575.2_Missense_Mutation_p.G688E|GRIN2A_ENST00000330684.3_Missense_Mutation_p.G688E|GRIN2A_ENST00000535259.1_Missense_Mutation_p.G531E|GRIN2A_ENST00000562109.1_Missense_Mutation_p.G688E	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	688					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTCCGTGCTTCCATTAGGCAC	0.443000													6	68					0	0	3.59834e-05	0	0
MYCBP2	23077	broad.mit.edu	37	13	77835375	77835375	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:77835375G>A	ENST00000407578.2	-	12	2049	c.1783C>T	c.(1783-1785)Ctt>Ttt	p.L595F	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.L557F|MYCBP2_ENST00000357337.6_Missense_Mutation_p.L557F	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	557					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCAACTAAAAGGGCGTGAGAG	0.408000													12	86					0	0	0.00010058	0	0
ITIH2	3698	broad.mit.edu	37	10	7769728	7769728	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:7769728G>T	ENST00000358415.4	+	11	1382	c.1216G>T	c.(1216-1218)Gga>Tga	p.G406*	ITIH2_ENST00000379587.4_Nonsense_Mutation_p.G395*	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	406	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CAATAACTTGGGACTGTTAGA	0.448000													7	50					0.000442599	0.00584094	0.000442599	1	0
TBC1D5	9779	broad.mit.edu	37	3	17447927	17447927	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:17447927G>C	ENST00000253692.7	-	5	1923	c.259C>G	c.(259-261)Cgc>Ggc	p.R87G	TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000429383.4_Missense_Mutation_p.R87G|TBC1D5_ENST00000446818.2_Missense_Mutation_p.R87G|TBC1D5_ENST00000429924.2_Missense_Mutation_p.R39G	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	87	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						CAAATGCTGCGGAACCTGCTG	0.398000													4	43					0	0	0.000157383	0	0
FER	2241	broad.mit.edu	37	5	108203558	108203558	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:108203558G>A	ENST00000281092.4	+	6	956	c.572G>A	c.(571-573)gGg>gAg	p.G191E	FER_ENST00000438717.2_Missense_Mutation_p.G16E|FER_ENST00000536402.1_Missense_Mutation_p.G191E	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	191	Important for interaction with membranes containing phosphoinositides.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GCGTTGAAAGGGGCACAGCTC	0.398000													4	47					0	0	0.00024832	0	0
CHD7	55636	broad.mit.edu	37	8	61773534	61773534	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:61773534C>A	ENST00000423902.2	+	35	8159	c.7680C>A	c.(7678-7680)ccC>ccA	p.P2560P	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2560					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.P2560P(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TTCCTTCTCCCGGACAGCTGG	0.453000													7	123					0.000442599	0.00584094	0.000442599	1	0
HTR4	3360	broad.mit.edu	37	5	147830817	147830817	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:147830817C>G	ENST00000354217.2	-	7	1258	c.1095G>C	c.(1093-1095)agG>agC	p.R365S	HTR4_ENST00000314512.6_3'UTR|HTR4_ENST00000521530.1_Missense_Mutation_p.R365S|HTR4_ENST00000521735.1_3'UTR			Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	0					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	GATGATGTCCCCTGTGCAGAA	0.478000													4	156					0	0	3.59834e-05	0	0
PRRG3	79057	broad.mit.edu	37	X	150869165	150869165	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:150869165G>A	ENST00000370353.3	+	4	746	c.356G>A	c.(355-357)cGg>cAg	p.R119Q	PRRG3_ENST00000370354.1_3'UTR|PRRG3_ENST00000538575.1_Missense_Mutation_p.R119Q			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	119						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCAGAACCGGTACCTAGCC	0.632000													28	92					0	0	0.000720815	0	0
TXNDC16	57544	broad.mit.edu	37	14	52985899	52985899	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:52985899C>A	ENST00000281741.4	-	7	876	c.505G>T	c.(505-507)Gga>Tga	p.G169*	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	169					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					CCTGGTATTCCAATGGCTCTT	0.318000													7	179					0.000274275	0.0038898	0.000274275	1	0
SMG6	23293	broad.mit.edu	37	17	2202583	2202583	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:2202583C>G	ENST00000544865.1	-	2	1881	c.1371G>C	c.(1369-1371)tgG>tgC	p.W457C	SMG6_ENST00000263073.5_Missense_Mutation_p.W488C			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	488	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTGAGTCACCCCAAGATGTAG	0.507000													5	261					0	0	0.000157383	0	0
KIF11	3832	broad.mit.edu	37	10	94393495	94393495	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:94393495G>T	ENST00000260731.3	+	14	1908	c.1818G>T	c.(1816-1818)atG>atT	p.M606I		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	606					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTTTTAATATGATACTAAAAG	0.328000													15	563					3.52763e-06	6.31522e-05	0.000566183	1	0
AGPS	8540	broad.mit.edu	37	2	178301552	178301552	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:178301552C>A	ENST00000264167.4	+	4	648	c.502C>A	c.(502-504)Ctt>Att	p.L168I	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	168					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TCTTCATGACCTTAAAGAAAC	0.289000													9	259					5.50884e-06	9.71621e-05	0.00010058	1	0
MAP4	4134	broad.mit.edu	37	3	48040154	48040154	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:48040154G>T	ENST00000426837.2	-	2	284	c.197C>A	c.(196-198)cCg>cAg	p.P66Q	MAP4_ENST00000383737.4_Missense_Mutation_p.P66Q|MAP4_ENST00000434267.1_Missense_Mutation_p.P66Q|MAP4_ENST00000360240.6_Missense_Mutation_p.P66Q|MAP4_ENST00000439356.1_Missense_Mutation_p.P66Q|MAP4_ENST00000395734.3_Missense_Mutation_p.P66Q			P27816	MAP4_HUMAN	microtubule-associated protein 4	66					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TTCTGAGCACGGTTTCTTCTT	0.403000													5	162					0.000157383	0.00236471	0.000157383	1	0
PCDHGA2	56113	broad.mit.edu	37	5	140719905	140719905	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:140719905C>T	ENST00000394576.2	+	1	1367	c.1367C>T	c.(1366-1368)tCc>tTc	p.S456F	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCGCACATCCTACTCCACC	0.557000													16	155					0	0	0.000308642	0	0
NLRP13	126204	broad.mit.edu	37	19	56424604	56424604	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:56424604G>T	ENST00000588751.1	-	5	603	c.579C>A	c.(577-579)gaC>gaA	p.D193E	NLRP13_ENST00000342929.3_Missense_Mutation_p.D193E			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	193							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AACTGATGTTGTCCCATGTCT	0.453000													6	159					1.06961e-07	2.02547e-06	0.000157383	1	0
RPAP1	26015	broad.mit.edu	37	15	41821679	41821679	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:41821679C>G	ENST00000304330.4	-	9	1263	c.1147G>C	c.(1147-1149)Gag>Cag	p.E383Q	RPAP1_ENST00000568413.1_5'UTR|RPAP1_ENST00000561603.1_Missense_Mutation_p.E383Q	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	383						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TCTGCCTCCTCTCCATGGTGG	0.562000													4	14					0	0	0.00024832	0	0
C1QL2	165257	broad.mit.edu	37	2	119915809	119915809	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:119915809G>T	ENST00000272520.3	-	1	656	c.37C>A	c.(37-39)Ctg>Atg	p.L13M		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	13						collagen				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						GCCGCCTGCAGCAGCAGCGGC	0.756000										HNSCC(49;0.14)			4	12					6.5536e-12	1.29102e-10	0.000157383	1	0
ZZEF1	23140	broad.mit.edu	37	17	3999945	3999945	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:3999945G>C	ENST00000381638.2	-	10	1846	c.1722C>G	c.(1720-1722)acC>acG	p.T574T	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	574							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ATTCAGTTCCGGTAGAAAAAA	0.353000													5	213					0	0	8.12818e-05	0	0
CELSR2	1952	broad.mit.edu	37	1	109792765	109792765	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:109792765C>T	ENST00000271332.3	+	1	125	c.64C>T	c.(64-66)Ctg>Ttg	p.L22L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	22					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		gctgctgttgctgctgctgct	0.746000													7	119					0	0	8.12818e-05	0	0
DMBT1	1755	broad.mit.edu	37	10	124380664	124380664	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:124380664C>G	ENST00000368909.3	+	41	5095	c.4989C>G	c.(4987-4989)acC>acG	p.T1663T	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Silent_p.T1035T|DMBT1_ENST00000368955.3_Silent_p.T1653T|DMBT1_ENST00000338354.3_Silent_p.T1663T|DMBT1_ENST00000344338.3_Silent_p.T1653T|DMBT1_ENST00000368956.2_Silent_p.T1035T	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1663	SRCR 13.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.T1663T(2)|p.T1792T(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCTGGGGAACCGTGTGTGATG	0.607000													4	175					0	0	3.59834e-05	0	0
SRSF3	6428	broad.mit.edu	37	6	36569747	36569747	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:36569747G>C	ENST00000373715.6	+	6	592	c.476G>C	c.(475-477)aGg>aCg	p.R159T		NM_003017.4	NP_003008.1	P84103	SRSF3_HUMAN	serine/arginine-rich splicing factor 3	159	2 X approximate repeats, basic.|Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						AGTCGATCTAGGTCAAATGAA	0.299000													5	221					0	0	8.12818e-05	0	0
CCDC23	374969	broad.mit.edu	37	1	43282134	43282134	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:43282134G>T	ENST00000372521.4	-	2	180	c.82C>A	c.(82-84)Cag>Aag	p.Q28K	CCDC23_ENST00000497437.1_5'UTR|CCDC23_ENST00000372522.1_Missense_Mutation_p.Q28K|CCDC23_ENST00000537227.1_Missense_Mutation_p.Q28K	NM_199342.3	NP_955374.1	Q8N300	CCD23_HUMAN	coiled-coil domain containing 23	28										large_intestine(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGCTCCTGCTGGGCTGATTTC	0.468000													10	202					1.99824e-07	3.76484e-06	0.000566183	1	0
GNA12	2768	broad.mit.edu	37	7	2771073	2771073	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:2771073G>T	ENST00000275364.3	-	4	1050	c.888C>A	c.(886-888)aaC>aaA	p.N296K	GNA12_ENST00000407653.1_Missense_Mutation_p.N220K|AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000396960.3_Missense_Mutation_p.N148K|GNA12_ENST00000491117.1_5'UTR|GNA12_ENST00000407904.3_Missense_Mutation_p.N237K|GNA12_ENST00000544127.1_Missense_Mutation_p.N203K	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	296					G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		GGTCCATCTTGTTGAGGAAGA	0.562000													7	107					0.000673444	0.0084606	0.000673444	1	0
PRPS2	5634	broad.mit.edu	37	X	12840891	12840891	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:12840891C>A	ENST00000380668.5	+	7	1061	c.933C>A	c.(931-933)taC>taA	p.Y311*	PRPS2_ENST00000398491.2_Nonsense_Mutation_p.Y314*	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	311					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						CCGTGTCCTACCTGTTCAGCC	0.448000													5	69					2.7689e-08	5.32103e-07	8.12818e-05	1	0
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31726371	31726371	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:31726371C>G	ENST00000493662.2	+	14	1297	c.1241C>G	c.(1240-1242)cCc>cGc	p.P414R	MSH5_ENST00000534153.4_Missense_Mutation_p.P414R|MSH5_ENST00000375750.3_Missense_Mutation_p.P397R|MSH5_ENST00000375703.3_Missense_Mutation_p.P397R|MSH5_ENST00000375742.3_Missense_Mutation_p.P414R|MSH5_ENST00000375755.3_Missense_Mutation_p.P397R|MSH5_ENST00000395853.1_Missense_Mutation_p.P71R|MSH5_ENST00000375740.3_Missense_Mutation_p.P414R|MSH5_ENST00000431848.2_Missense_Mutation_p.P96R														p.P397R(1)|p.P414R(1)									ACAGTCCTCCCCAACATAGAT	0.532000													5	272					0	0	0.000157383	0	0
MDC1	9656	broad.mit.edu	37	6	30671266	30671266	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:30671266C>A	ENST00000376406.3	-	11	6258	c.5611G>T	c.(5611-5613)Gag>Tag	p.E1871*	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Nonsense_Mutation_p.E1607*	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1871	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TTGGGCTCCTCCTCTGCCTGG	0.493000								Other conserved DNA damage response genes					8	207					6.40141e-05	0.00104902	6.40141e-05	1	0
TSC1	7248	broad.mit.edu	37	9	135786955	135786955	+	Splice_Site	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:135786955C>G	ENST00000298552.3	-	10	1135	c.913_splice	c.e10-1	p.G305_splice	TSC1_ENST00000403810.1_Splice_Site_p.G305_splice|TSC1_ENST00000545250.1_Splice_Site_p.G254_splice|TSC1_ENST00000440111.2_Splice_Site_p.G305_splice	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	305					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		AGTAGCACACCCTAAAATGGA	0.408000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				4	75					0	0	3.59834e-05	0	0
HS3ST1	9957	broad.mit.edu	37	4	11400941	11400941	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:11400941T>C	ENST00000002596.5	-	2	1863	c.689A>G	c.(688-690)aAg>aGg	p.K230R		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	230						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CCTCTCGACCTTTTGGATCTC	0.567000													3	69					0	0	6.4e-05	0	0
ANAPC1	64682	broad.mit.edu	37	2	112622510	112622510	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:112622510C>G	ENST00000341068.3	-	8	1476	c.704G>C	c.(703-705)cGg>cCg	p.R235P		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	235					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|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	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						ATATTGCACCCGTGATGAACC	0.328000													4	160					0	0	0.000602214	0	0
DIO1	1733	broad.mit.edu	37	1	54370352	54370352	+	Translation_Start_Site	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:54370352G>A	ENST00000524406.1	+	0	227				DIO1_ENST00000361921.3_Silent_p.L117L|DIO1_ENST00000532493.1_Intron|DIO1_ENST00000388876.3_Intron|DIO1_ENST00000525202.1_Silent_p.L53L|DIO1_ENST00000322679.6_Silent_p.L117L|DIO1_ENST00000534069.1_3'UTR			P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I						hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						ATAGGCCACTGGTGCTGAATT	0.388000													15	193					0	0	0.00074312	0	0
PTPN11	5781	broad.mit.edu	37	12	112888162	112888162	+	Missense_Mutation	SNP	G	G	C	rs121918471		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:112888162G>C	ENST00000351677.2	+	3	376	c.178G>C	c.(178-180)Ggt>Cgt	p.G60R	PTPN11_ENST00000392597.1_Missense_Mutation_p.G60R	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	60	SH2 1.		G -> A (in NS1).|G -> V (in myelodysplastic syndrome).		axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.G60R(3)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						TCAGAACACTGGTGATTACTA	0.418000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				4	140					0	0	0.000602214	0	0
UNC93B1	81622	broad.mit.edu	37	11	67765893	67765893	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:67765893C>A	ENST00000227471.2	-	6	796	c.717G>T	c.(715-717)atG>atT	p.M239I	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	239					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome											GGAAATAAATCATGGGCAGCT	0.567000													9	170					6.40141e-05	0.00104902	6.40141e-05	1	0
DDX1	1653	broad.mit.edu	37	2	15758308	15758308	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:15758308G>C	ENST00000381341.2	+	17	1509	c.1120G>C	c.(1120-1122)Ggg>Cgg	p.G374R	DDX1_ENST00000233084.3_Missense_Mutation_p.G374R			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	374	Helicase ATP-binding.|Necessary for interaction with RELA.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		CATGCAGGATGGGCTTCTTTC	0.289000													7	263					0	0	0.000442599	0	0
XIST	7503	broad.mit.edu	37	X	73064054	73064054	+	RNA	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:73064054G>C	ENST00000429829.1	-	0	8534					NR_001564.2																						GCAAATGGAGGGTGAGAAGGT	0.408000													6	192					0	0	3.59834e-05	0	0
LARP4B	23185	broad.mit.edu	37	10	866766	866766	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:866766G>C	ENST00000316157.3	-	13	1544	c.1504C>G	c.(1504-1506)Cgg>Ggg	p.R502G		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	502							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CTTTTCTTCCGGTAGCCAAAG	0.343000													4	111					0	0	0.000602214	0	0
LRRC18	474354	broad.mit.edu	37	10	50121549	50121549	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:50121549G>C	ENST00000374160.3	-	1	728	c.652C>G	c.(652-654)Cgg>Ggg	p.R218G	RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000325239.5_Intron|LRRC18_ENST00000298124.3_Missense_Mutation_p.R218G|WDFY4_ENST00000413659.2_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	218						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						AGGTTGTCCCGGGCGTTTTGG	0.498000													4	151					0	0	0.000157383	0	0
SVEP1	79987	broad.mit.edu	37	9	113217905	113217905	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:113217905C>G	ENST00000401783.2	-	22	4088	c.3752G>C	c.(3751-3753)gGg>gCg	p.G1251A	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.G1228A|SVEP1_ENST00000302728.8_Missense_Mutation_p.G1251A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1251	EGF-like 2; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AATGAATTCCCCAACTAGGTC	0.413000													3	37					0	0	3.59834e-05	0	0
MARK1	4139	broad.mit.edu	37	1	220771703	220771703	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:220771703C>A	ENST00000366918.4	+	4	937	c.340C>A	c.(340-342)Ctg>Atg	p.L114M	MARK1_ENST00000366917.4_Missense_Mutation_p.L114M|MARK1_ENST00000402574.1_5'UTR			Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	114	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AATGAAGATACTGAATCATCC	0.239000													7	237					0.000673444	0.0084606	0.000673444	1	0
MUC16	94025	broad.mit.edu	37	19	9063558	9063558	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:9063558G>T	ENST00000397910.4	-	3	24091	c.23888C>A	c.(23887-23889)cCc>cAc	p.P7963H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7965	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCCAGAAGGGGAGGGCTCAT	0.458000													13	64					6.71089e-19	1.32903e-17	0.00010058	1	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	158980379	158980379	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:158980379C>G	ENST00000485419.1	+	4	367	c.198C>G	c.(196-198)ccC>ccG	p.P66P	IQCJ-SCHIP1_ENST00000467442.1_3'UTR|IQCJ_ENST00000397832.2_Silent_p.P66P|IQCJ_ENST00000481796.1_3'UTR|IQCJ_ENST00000482126.1_Silent_p.P39P|IQCJ_ENST00000451172.1_Silent_p.P66P|IQCJ-SCHIP1_ENST00000476809.1_Silent_p.P39P	NM_001197113.1	NP_001184042.1	Q9P0W5	SCHI1_HUMAN		0	Ser-rich.					cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						GGCAGGAGCCCCTGGGGAAGA	0.537000													4	97					0	0	0.00024832	0	0
CEACAM5	1048	broad.mit.edu	37	19	42224968	42224968	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:42224968C>G	ENST00000221992.6	+	8	2012	c.1898C>G	c.(1897-1899)cCg>cGg	p.P633R	CEACAM5_ENST00000405816.1_Missense_Mutation_p.P633R|CEACAM5_ENST00000398599.4_Missense_Mutation_p.P632R|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	633	Ig-like 7.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		p.P633L(1)		breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		AATGGGATACCGCAGCAACAC	0.507000													4	143					0	0	0.000157383	0	0
PIGM	93183	broad.mit.edu	37	1	160001019	160001019	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:160001019C>G	ENST00000368090.2	-	1	764	c.511G>C	c.(511-513)Gta>Cta	p.V171L		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	171					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCATAGAATACAGCTGCACAC	0.493000													4	172					0	0	3.59834e-05	0	0
UBQLNL	143630	broad.mit.edu	37	11	5536305	5536305	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:5536305C>G	ENST00000380184.1	-	1	1630	c.1367G>C	c.(1366-1368)tGg>tCg	p.W456S	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	456										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CTGCTGCCTCCACTGTTCACT	0.493000													4	116					0	0	3.59834e-05	0	0
MYH4	4622	broad.mit.edu	37	17	10358500	10358500	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:10358500C>G	ENST00000255381.2	-	20	2397	c.2287G>C	c.(2287-2289)Ggt>Cgt	p.G763R	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	763	Actin-binding (By similarity).|Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTGGTATGACCGAATTTGTAC	0.383000													4	113					0	0	0.00024832	0	0
PDE8B	8622	broad.mit.edu	37	5	76621534	76621534	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:76621534C>G	ENST00000264917.5	+	3	615	c.570C>G	c.(568-570)ttC>ttG	p.F190L	PDE8B_ENST00000346042.3_Missense_Mutation_p.F190L|PDE8B_ENST00000342343.4_Missense_Mutation_p.F170L|PDE8B_ENST00000340978.3_Missense_Mutation_p.F190L|PDE8B_ENST00000333194.4_Missense_Mutation_p.F190L	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	190					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CTCAGAACTTCGATGCAGAAG	0.333000													5	302					0	0	0.000602214	0	0
ACVR2B	93	broad.mit.edu	37	3	38519382	38519382	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:38519382C>G	ENST00000352511.3	+	3	763	c.291C>G	c.(289-291)ccC>ccG	p.P97P		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	97					activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		AGGAGAACCCCCAGGTGTACT	0.592000													4	164					0	0	0.000157383	0	0
CELSR2	1952	broad.mit.edu	37	1	109792762	109792762	+	Silent	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:109792762T>C	ENST00000271332.3	+	1	122	c.61T>C	c.(61-63)Ttg>Ctg	p.L21L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	21					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		gctgctgctgttgctgctgct	0.746000													7	118					0	0	8.12818e-05	0	0
BTBD16	118663	broad.mit.edu	37	10	124034614	124034614	+	Splice_Site	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:124034614G>C	ENST00000368994.2	+	2	269	c.18_splice	c.e2+1	p.T6_splice	BTBD16_ENST00000260723.4_Splice_Site_p.T6_splice			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	6										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				TGTCGAACACGGTGAGTAGAT	0.413000													4	114					0	0	8.12818e-05	0	0
EPS8	2059	broad.mit.edu	37	12	15811501	15811501	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:15811501C>G	ENST00000281172.5	-	11	1392	c.956G>C	c.(955-957)cGg>cCg	p.R319P	EPS8_ENST00000543612.1_Missense_Mutation_p.R319P|EPS8_ENST00000540613.1_Missense_Mutation_p.R59P|EPS8_ENST00000542903.1_Missense_Mutation_p.R59P|EPS8_ENST00000543523.1_Missense_Mutation_p.R319P	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	319					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity	p.R319L(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		AGGTTTTGCCCGCAGCGTTAA	0.348000													6	146					0	0	0.000442599	0	0
DNAJC11	55735	broad.mit.edu	37	1	6711618	6711618	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:6711618G>T	ENST00000377577.5	-	7	798	c.675C>A	c.(673-675)ctC>ctA	p.L225L	DNAJC11_ENST00000294401.7_Silent_p.L225L|DNAJC11_ENST00000349363.6_Silent_p.L187L|DNAJC11_ENST00000377573.5_Silent_p.L135L|DNAJC11_ENST00000542246.1_Silent_p.L187L	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	225					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		GGAACAGCTTGAGACCGAACA	0.438000													5	56					0.000274275	0.0038898	0.000274275	1	0
A2ML1	144568	broad.mit.edu	37	12	9013834	9013834	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:9013834G>C	ENST00000299698.7	+	28	3623	c.3443G>C	c.(3442-3444)gGg>gCg	p.G1148A	A2ML1_ENST00000539547.1_Missense_Mutation_p.G657A	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	992						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TCCCTGGCTGGGGAAATGGAC	0.468000													4	200					0	0	0.000157383	0	0
RFC1	5981	broad.mit.edu	37	4	39306456	39306456	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:39306456G>C	ENST00000381897.1	-	15	2224	c.2091C>G	c.(2089-2091)acC>acG	p.T697T	RFC1_ENST00000349703.2_Silent_p.T696T	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	697					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CTTTGATGCTGGTATTGTTCA	0.388000													5	250					0	0	0.000157383	0	0
MUC7	4589	broad.mit.edu	37	4	71347008	71347008	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:71347008T>C	ENST00000413702.1	+	4	835	c.547T>C	c.(547-549)Tca>Cca	p.S183P	MUC7_ENST00000304887.5_Missense_Mutation_p.S183P|MUC7_ENST00000456088.1_Missense_Mutation_p.S183P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	183	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCATCTTCCTCAGCTCCACC	0.572000													6	176					0	0	0.000274275	0	0
LARP7	51574	broad.mit.edu	37	4	113570813	113570813	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:113570813C>A	ENST00000509061.1	+	11	1589	c.1286C>A	c.(1285-1287)cCt>cAt	p.P429H	MIR302B_ENST00000510655.1_RNA|LARP7_ENST00000344442.5_Missense_Mutation_p.P422H|LARP7_ENST00000324052.6_Missense_Mutation_p.P422H	NM_001267039.1	NP_001253968.1	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	422					RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		AGTGGAGTACCTCAAAACACT	0.303000													6	43					0.000673444	0.0084606	0.000673444	1	0
PPP1R16A	84988	broad.mit.edu	37	8	145724424	145724424	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:145724424G>A	ENST00000292539.4	+	4	1373	c.456G>A	c.(454-456)ctG>ctA	p.L152L	PPP1R16A_ENST00000435887.1_Silent_p.L152L|CTD-2517M14.5_ENST00000569326.1_RNA|CTD-2517M22.14_ENST00000532766.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	152						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			ACCTGCACCTGGTGGAGCTGC	0.642000													4	48					0	0	0.00024832	0	0
FCAR	2204	broad.mit.edu	37	19	55401189	55401189	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:55401189C>G	ENST00000355524.3	+	5	834	c.824C>G	c.(823-825)cCa>cGa	p.P275R	FCAR_ENST00000391724.3_Missense_Mutation_p.P241R|FCAR_ENST00000391725.3_Missense_Mutation_p.P253R|FCAR_ENST00000391726.3_Missense_Mutation_p.P167R|FCAR_ENST00000391723.3_3'UTR|FCAR_ENST00000359272.4_Missense_Mutation_p.P263R|FCAR_ENST00000353758.4_Missense_Mutation_p.P166R|FCAR_ENST00000345937.4_Missense_Mutation_p.P179R|FCAR_ENST00000482092.2_3'UTR	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	275					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		ATGTGTCAGCCAGGATTGACC	0.527000													4	154					0	0	0.00024832	0	0
SPAST	6683	broad.mit.edu	37	2	32312611	32312611	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:32312611C>A	ENST00000315285.3	+	2	591	c.466C>A	c.(466-468)Ctg>Atg	p.L156M	SPAST_ENST00000345662.1_Missense_Mutation_p.L156M	NM_014946.3	NP_055761.2	Q9UBP0	SPAST_HUMAN	spastin	156	MIT.|Required for interaction with RTN1.|Required for interaction with microtubules.|Required for midbody localization.|Sufficient for interaction with CHMP1B.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TATTGAAGAACTGGAAAAAGG	0.318000													8	264					0.000673444	0.0084606	0.000673444	1	0
MASTL	84930	broad.mit.edu	37	10	27470490	27470490	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:27470490C>A	ENST00000375946.4	+	11	3062	c.2459C>A	c.(2458-2460)aCa>aAa	p.T820K	MASTL_ENST00000477034.1_Intron|MASTL_ENST00000342386.6_Missense_Mutation_p.T782K|MASTL_ENST00000375940.4_Missense_Mutation_p.T821K	NM_001172303.1|NM_032844.3	NP_001165774.1|NP_116233.2	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	821	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATTGATGATACAAAGAGAGCT	0.313000													8	152					0.000274275	0.0038898	0.000274275	1	0
AP2A2	161	broad.mit.edu	37	11	1006548	1006548	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:1006548G>T	ENST00000448903.2	+	17	2368	c.2227G>T	c.(2227-2229)Ggt>Tgt	p.G743C	AP2A2_ENST00000525891.1_3'UTR|AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000332231.5_Missense_Mutation_p.G744C	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	743					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TATCTTTTATGGTAATAAGAC	0.423000													7	122					0.000442599	0.00584094	0.000442599	1	0
IGHMBP2	3508	broad.mit.edu	37	11	68704052	68704052	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:68704052C>T	ENST00000255078.3	+	13	2215	c.2104C>T	c.(2104-2106)Ctg>Ttg	p.L702L		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	702					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TGGGAAGTCTCTGGCCTCTGA	0.652000													6	42					0	0	0.000157383	0	0
YWHAB	7529	broad.mit.edu	37	20	43530320	43530320	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:43530320C>T	ENST00000372839.3	+	3	420	c.146C>T	c.(145-147)gCc>gTc	p.A49V	YWHAB_ENST00000353703.4_Missense_Mutation_p.A49V|YWHAB_ENST00000479421.1_3'UTR	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide	49					activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				CTCTCTGTTGCCTACAAGAAT	0.522000													13	86					0	0	0.00010058	0	0
NEO1	4756	broad.mit.edu	37	15	73575396	73575396	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:73575396G>C	ENST00000339362.5	+	24	3801	c.3354G>C	c.(3352-3354)gtG>gtC	p.V1118V	NEO1_ENST00000560262.1_Silent_p.V1118V|NEO1_ENST00000261908.6_Silent_p.V1118V|NEO1_ENST00000558964.1_Silent_p.V1107V			Q92859	NEO1_HUMAN	neogenin 1	1118	Poly-Val.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TCACCATCGTGGTGGTTGTGA	0.493000													6	263					0	0	3.59834e-05	0	0
TRIP4	9325	broad.mit.edu	37	15	64710742	64710742	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:64710742G>C	ENST00000261884.3	+	9	1233	c.1173G>C	c.(1171-1173)tgG>tgC	p.W391C		NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	391					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						CTGTGTAGTGGGTTGACCACA	0.418000													4	67					0	0	0.00024832	0	0
C1QTNF7	114905	broad.mit.edu	37	4	15443813	15443813	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:15443813C>A	ENST00000295297.4	+	3	540	c.281C>A	c.(280-282)cCg>cAg	p.P94Q	C1QTNF7_ENST00000429690.1_Missense_Mutation_p.P87Q|C1QTNF7_ENST00000444304.2_Missense_Mutation_p.P87Q	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	87	Collagen-like.					collagen		p.P87Q(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						AAGACTGGACCGCTAGGTCTT	0.448000													6	183					0.000442599	0.00584094	0.000442599	1	0
PHLDB2	90102	broad.mit.edu	37	3	111681011	111681011	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:111681011C>G	ENST00000431670.2	+	13	3340	c.2929C>G	c.(2929-2931)Cgc>Ggc	p.R977G	PHLDB2_ENST00000481953.1_Missense_Mutation_p.R934G|PHLDB2_ENST00000470699.2_3'UTR|PHLDB2_ENST00000495180.1_Missense_Mutation_p.R468G|PHLDB2_ENST00000393923.3_Missense_Mutation_p.R961G|PHLDB2_ENST00000412622.1_Missense_Mutation_p.R934G|PHLDB2_ENST00000393925.3_Missense_Mutation_p.R977G	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	977						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						ATTTTATAACCGCACAGCATC	0.403000													4	100					0	0	0.00024832	0	0
CATSPER4	378807	broad.mit.edu	37	1	26527421	26527421	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:26527421G>A	ENST00000456354.2	+	8	1155	c.1088G>A	c.(1087-1089)gGa>gAa	p.G363E		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	363					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCTTGCGGGAGGCCCCCTG	0.562000													11	54					0	0	6.40141e-05	0	0
ZNF675	171392	broad.mit.edu	37	19	23836475	23836475	+	Silent	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:23836475T>C	ENST00000359788.4	-	4	1428	c.1260A>G	c.(1258-1260)ggA>ggG	p.G420G	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	420					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AGGGTTTCTCTCCAGTGTGAA	0.373000													4	125					0	0	0.00024832	0	0
HTR2C	3358	broad.mit.edu	37	X	113965819	113965819	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:113965819G>C	ENST00000276198.1	+	4	880	c.152G>C	c.(151-153)gGg>gCg	p.G51A	HTR2C_ENST00000371951.1_Missense_Mutation_p.G51A|HTR2C_ENST00000371950.3_Missense_Mutation_p.G51A	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	51					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TTCCCAGACGGGGTACAAAAC	0.428000													5	265					0	0	3.59834e-05	0	0
TMTC4	84899	broad.mit.edu	37	13	101315391	101315391	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:101315391G>A	ENST00000342624.5	-	5	637	c.379C>T	c.(379-381)Cac>Tac	p.H127Y	TMTC4_ENST00000328767.5_Intron|TMTC4_ENST00000376234.3_Missense_Mutation_p.H108Y	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	108						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTGACCACGTGAAAGCCCACG	0.577000													15	55					0	0	0.000566183	0	0
ARMCX5	64860	broad.mit.edu	37	X	101858161	101858161	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:101858161C>A	ENST00000604957.1	+	1	3714	c.1092C>A	c.(1090-1092)ccC>ccA	p.P364P	ARMCX5_ENST00000372742.1_Silent_p.P364P|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000246174.2_Silent_p.P364P|ARMCX5_ENST00000537008.1_Silent_p.P364P|RP4-769N13.6_ENST00000476910.1_RNA|ARMCX5_ENST00000536530.1_Silent_p.P364P|ARMCX5_ENST00000541409.1_Silent_p.P364P	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	364							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						TCAATAATCCCAATGTTAAAG	0.368000													9	225					4.3838e-07	8.16657e-06	0.000151284	1	0
RAB8A	4218	broad.mit.edu	37	19	16238834	16238834	+	Splice_Site	SNP	A	A	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:16238834A>G	ENST00000300935.3	+	6	687		c.e6-1		CTD-2231E14.8_ENST00000597983.1_RNA|RAB8A_ENST00000586682.1_Splice_Site	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family						cilium assembly|Golgi vesicle fusion to target membrane|protein transport|small GTPase mediated signal transduction|vesicle docking involved in exocytosis	Golgi apparatus|nonmotile primary cilium|perinuclear region of cytoplasm|plasma membrane	GTP binding|protein binding			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						CCTCTCTCACAGCTGGCCCTC	0.612000													4	58					0	0	0.00024832	0	0
PRSS35	167681	broad.mit.edu	37	6	84233616	84233616	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:84233616G>C	ENST00000536636.1	+	3	801	c.456G>C	c.(454-456)acG>acC	p.T152T	PRSS35_ENST00000369700.3_Silent_p.T152T	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	152	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		AGCTTTCCACGGGCTGTAGTG	0.478000													4	111					0	0	0.000157383	0	0
PCDHB12	56124	broad.mit.edu	37	5	140588603	140588603	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:140588603G>T	ENST00000239450.2	+	1	313	c.124G>T	c.(124-126)Ggg>Tgg	p.G42W	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		42	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.G42W(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTGCAGAGCGGGAGCTTTGT	0.498000													7	164					0.000442599	0.00584094	0.000442599	1	0
PROKR1	10887	broad.mit.edu	37	2	68882178	68882178	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:68882178G>C	ENST00000303786.3	+	3	1072	c.652G>C	c.(652-654)Ggc>Cgc	p.G218R	PROKR1_ENST00000394342.2_Missense_Mutation_p.G218R			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	218						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GATCTTCTGCGGCCAGATCTG	0.552000													4	102					0	0	3.59834e-05	0	0
PIK3CB	5291	broad.mit.edu	37	3	138431130	138431130	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:138431130C>G	ENST00000477593.1	-	9	1392	c.1319G>C	c.(1318-1320)tGg>tCg	p.W440S	PIK3CB_ENST00000289153.2_Missense_Mutation_p.W440S|PIK3CB_ENST00000544716.1_5'UTR			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	440	C2 PI3K-type.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CGTATTTACCCACGCTACAGG	0.333000													9	425					0	0	0.000308642	0	0
ZRANB3	84083	broad.mit.edu	37	2	135985436	135985436	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:135985436C>T	ENST00000401392.1	-	14	2316	c.2104G>A	c.(2104-2106)Gaa>Aaa	p.E702K	ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000264159.6_Missense_Mutation_p.E702K|ZRANB3_ENST00000536680.1_Missense_Mutation_p.E702K			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	702						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GGTGTTTCTTCCTTGCTGTCA	0.418000													4	15					0	0	3.59834e-05	0	0
IQSEC1	9922	broad.mit.edu	37	3	12977071	12977071	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:12977071C>G	ENST00000273221.4	-	3	1703	c.1487G>C	c.(1486-1488)cGg>cCg	p.R496P		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	496					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGTCTGCTCCCGCAGGCTGTC	0.582000													4	90					0	0	0.000157383	0	0
MMP27	64066	broad.mit.edu	37	11	102573542	102573542	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:102573542C>G	ENST00000260229.4	-	4	652	c.561G>C	c.(559-561)ccG>ccC	p.P187P		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	187					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.P187P(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		CACCCAGACCCGGACCAGGAG	0.443000													6	110					0	0	3.59834e-05	0	0
NBEAL1	65065	broad.mit.edu	37	2	203995055	203995055	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:203995055G>T	ENST00000449802.1	+	24	3666	c.3333G>T	c.(3331-3333)ttG>ttT	p.L1111F		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1111							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTGGAATTTTGGACGTGCTCT	0.378000													9	248					9.70103e-10	1.89354e-08	0.000673444	1	0
IL3RA	3563	broad.mit.edu	37	X	1464266	1464266	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:1464266G>C	ENST00000331035.4	+	3	471	c.122G>C	c.(121-123)tGg>tCg	p.W41S	IL3RA_ENST00000381469.2_Intron	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	41						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)	CAGTTGACCTGGGACCTTAAC	0.398000													6	289					0	0	0.000442599	0	0
PCDHA1	56147	broad.mit.edu	37	5	140166993	140166993	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:140166993C>T	ENST00000504120.2	+	1	1118	c.1118C>T	c.(1117-1119)aCc>aTc	p.T373I	PCDHA1_ENST00000394633.3_Missense_Mutation_p.T373I|PCDHA1_ENST00000378133.3_Missense_Mutation_p.T373I	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTCATCACCGTGTCTGAC	0.532000													16	84					0	0	0.000422831	0	0
HSF5	124535	broad.mit.edu	37	17	56565248	56565248	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:56565248G>A	ENST00000323777.3	-	1	497	c.388C>T	c.(388-390)Ctc>Ttc	p.L130F		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	130						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCGCTGGTGAGGCGCTTGAGG	0.721000													4	45					0	0	0.00024832	0	0
ABCC9	10060	broad.mit.edu	37	12	21970158	21970158	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:21970158G>C	ENST00000261200.4	-	31	3854	c.3855C>G	c.(3853-3855)ttC>ttG	p.F1285L	ABCC9_ENST00000345162.2_Missense_Mutation_p.F1249L|ABCC9_ENST00000261201.4_Missense_Mutation_p.F1285L	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1285					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCATAGTCAGGAAACTGTTCA	0.373000													5	162					0	0	0.000602214	0	0
SSU72	29101	broad.mit.edu	37	1	1500230	1500230	+	Silent	SNP	G	G	C	rs150412235		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:1500230G>C	ENST00000359060.4	-	2	173	c.147C>G	c.(145-147)ccC>ccG	p.P49P	SSU72_ENST00000291386.3_Silent_p.P49P			Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)	49					mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity			large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		TGGGCTTGTCGGGAGCTGGTC	0.458000													4	111					0	0	0.00024832	0	0
GFM1	85476	broad.mit.edu	37	3	158384175	158384175	+	Splice_Site	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:158384175C>A	ENST00000486715.1	+	13	1958	c.1601_splice	c.e13+1	p.P534_splice	GFM1_ENST00000264263.5_Splice_Site_p.P553_splice|GFM1_ENST00000478576.1_Splice_Site_p.P534_splice	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1	534					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GCCCCTGTCCCGTAAGTATGC	0.378000													5	64					0.000157383	0.00236471	0.000157383	1	0
IL7	3574	broad.mit.edu	37	8	79652318	79652318	+	Splice_Site	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:79652318C>G	ENST00000263851.4	-	3	748		c.e3-1		IL7_ENST00000520269.1_Splice_Site	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7						bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding			endometrium(2)|large_intestine(2)|lung(1)	5						TCATGCTGTCCTGTAATAAAT	0.219000													4	103					0	0	3.59834e-05	0	0
DHX8	1659	broad.mit.edu	37	17	41585853	41585853	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:41585853C>G	ENST00000262415.3	+	16	2539	c.2467C>G	c.(2467-2469)Cga>Gga	p.R823G	DHX8_ENST00000540306.1_Missense_Mutation_p.R823G	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	823	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GATGCAGACCCGAATCTTTGA	0.488000													4	81					0	0	3.59834e-05	0	0
NDRG3	57446	broad.mit.edu	37	20	35315939	35315939	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:35315939C>A	ENST00000373803.2	-	5	332	c.276G>T	c.(274-276)gtG>gtT	p.V92V	NDRG3_ENST00000349004.1_Silent_p.V92V|NDRG3_ENST00000359675.2_Silent_p.V80V|NDRG3_ENST00000373773.3_Intron|NDRG3_ENST00000540765.1_Intron			Q9UGV2	NDRG3_HUMAN	NDRG family member 3	92					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				CTGGGGCATCCACATGACAGA	0.458000													6	82					0.000157383	0.00236471	0.000157383	1	0
PCDHB4	56131	broad.mit.edu	37	5	140501710	140501710	+	Missense_Mutation	SNP	G	G	T	rs77188774	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:140501710G>T	ENST00000194152.1	+	1	130	c.130G>T	c.(130-132)Gta>Tta	p.V44L		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		44	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCTCCTTTGTAGCCCATCT	0.552000													6	111					0.000442599	0.00584094	0.000442599	1	0
USP49	25862	broad.mit.edu	37	6	41773948	41773948	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:41773948C>G	ENST00000394253.3	-	3	1103	c.774G>C	c.(772-774)ctG>ctC	p.L258L	USP49_ENST00000373010.1_Silent_p.L258L|USP49_ENST00000373009.3_Silent_p.L258L|USP49_ENST00000373006.1_Silent_p.L258L|USP49_ENST00000297229.2_Silent_p.L258L			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	258					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGGTGTTGCCCAGGTTGCGCA	0.637000													4	98					0	0	3.59834e-05	0	0
ZNF197	10168	broad.mit.edu	37	3	44673611	44673611	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:44673611G>T	ENST00000396058.1	+	3	732	c.565G>T	c.(565-567)Gaa>Taa	p.E189*	ZNF197_ENST00000383744.4_Nonsense_Mutation_p.E189*|ZNF197_ENST00000383745.2_Nonsense_Mutation_p.E189*|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Nonsense_Mutation_p.E189*			O14709	ZN197_HUMAN	zinc finger protein 197	189					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		TCCTGCCCCTGAAGCTTCTGC	0.483000													11	264					3.27435e-08	6.28832e-07	0.000219431	1	0
ZC3H11A	9877	broad.mit.edu	37	1	203786249	203786249	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:203786249C>A	ENST00000545588.1	+	2	3878	c.51C>A	c.(49-51)acC>acA	p.T17T	ZC3H11A_ENST00000367214.1_Silent_p.T17T|ZC3H11A_ENST00000367212.3_Silent_p.T17T|ZC3H11A_ENST00000332127.4_Silent_p.T17T|ZC3H11A_ENST00000367210.1_Silent_p.T17T	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	17							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCACATGTACCAAAGTAAGAA	0.313000													7	175					0.000274275	0.0038898	0.000274275	1	0
UBR4	23352	broad.mit.edu	37	1	19491828	19491828	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:19491828C>A	ENST00000375267.2	-	31	4230	c.4227G>T	c.(4225-4227)caG>caT	p.Q1409H	UBR4_ENST00000375254.3_Missense_Mutation_p.Q1409H|UBR4_ENST00000375226.2_Missense_Mutation_p.Q1409H|UBR4_ENST00000375217.2_Missense_Mutation_p.Q1409H			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1409					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCATCATGATCTGTACAAGTT	0.418000													9	256					2.31682e-05	0.000393952	0.000308642	1	0
DCUN1D4	23142	broad.mit.edu	37	4	52752797	52752797	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:52752797C>A	ENST00000334635.5	+	6	587	c.407C>A	c.(406-408)cCa>cAa	p.P136Q	DCUN1D4_ENST00000451288.2_Missense_Mutation_p.P180Q|DCUN1D4_ENST00000381441.3_Missense_Mutation_p.P136Q|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.P76Q	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	136	DCUN1.									endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			GGTGTTGAACCAGAAAACGTG	0.328000													7	61					0.000673444	0.0084606	0.000673444	1	0
GKAP1	80318	broad.mit.edu	37	9	86356937	86356937	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:86356937G>A	ENST00000376371.2	-	12	1383	c.983C>T	c.(982-984)tCa>tTa	p.S328L	GKAP1_ENST00000376362.1_5'UTR|GKAP1_ENST00000376365.3_Missense_Mutation_p.S277L	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	328					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						AGCATGAAGTGAAGTCACCTA	0.299000													19	65					0	0	0.00047179	0	0
ATAD2	29028	broad.mit.edu	37	8	124335205	124335205	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:124335205C>G	ENST00000287394.5	-	27	4211	c.4104G>C	c.(4102-4104)aaG>aaC	p.K1368N	ATAD2_ENST00000521903.1_Missense_Mutation_p.K686N	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1368					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)			TATCATGGTCCTTGCGATGCC	0.318000													5	169					0	0	0.000602214	0	0
PRAME	23532	broad.mit.edu	37	22	22890547	22890547	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:22890547C>G	ENST00000543184.1	-	5	2334	c.1472G>C	c.(1471-1473)gGg>gCg	p.G491A	PRAME_ENST00000405655.3_Missense_Mutation_p.G491A|PRAME_ENST00000424204.2_Missense_Mutation_p.G475A|PRAME_ENST00000398741.1_Missense_Mutation_p.G491A|PRAME_ENST00000398743.2_Missense_Mutation_p.G491A|PRAME_ENST00000539862.1_Missense_Mutation_p.G475A|PRAME_ENST00000402697.1_Missense_Mutation_p.G491A	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	491	Mediates interaction with RARA.				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		GGTTCTGTCCCCACAGTGAGG	0.557000													4	110					0	0	3.59834e-05	0	0
DCX	1641	broad.mit.edu	37	X	110574132	110574132	+	Splice_Site	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:110574132C>G	ENST00000356915.2	-	5	1008	c.946_splice	c.e5+1	p.A316_splice	DCX_ENST00000338081.3_Intron|DCX_ENST00000488120.1_Intron|DCX_ENST00000371993.2_Intron|DCX_ENST00000356220.3_Splice_Site_p.A316_splice|DCX_ENST00000496551.1_5'UTR	NM_001195553.1|NM_178152.2|NM_178153.2	NP_001182482.1|NP_835365.1|NP_835366.1	O43602	DCX_HUMAN	doublecortin	392	Doublecortin 2.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	p.A316S(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GAGCACTCACCGTCTTGGTCG	0.512000													5	172					0	0	0.000157383	0	0
TARDBP	23435	broad.mit.edu	37	1	11073977	11073977	+	Missense_Mutation	SNP	G	G	T	rs35714982		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:11073977G>T	ENST00000240185.3	+	2	307	c.193G>T	c.(193-195)Gat>Tat	p.D65Y	TARDBP_ENST00000439080.2_Missense_Mutation_p.Q3H|TARDBP_ENST00000315091.3_Missense_Mutation_p.D65Y	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	65					3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		GCATGCCCCAGATGCTGGCTG	0.488000													8	142					0.000442599	0.00584094	0.000442599	1	0
ZNF280D	54816	broad.mit.edu	37	15	56958672	56958672	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:56958672G>T	ENST00000559237.1	-	15	2559	c.1876C>A	c.(1876-1878)Cac>Aac	p.H626N	ZNF280D_ENST00000267807.7_Missense_Mutation_p.H639N|ZNF280D_ENST00000396245.1_Missense_Mutation_p.H343N|ZNF280D_ENST00000559000.1_Missense_Mutation_p.H626N	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	639					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		GTAGGAAAGTGGTTTGCAAAA	0.338000													6	111					0.000157383	0.00236471	0.000157383	1	0
WDR60	55112	broad.mit.edu	37	7	158704364	158704364	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:158704364C>A	ENST00000407559.3	+	12	1742	c.1584C>A	c.(1582-1584)acC>acA	p.T528T		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	528										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AAAAAAATACCAAGCAGGTAA	0.323000													12	198					0.000151284	0.00236471	0.000151284	1	0
TCOF1	6949	broad.mit.edu	37	5	149754676	149754676	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:149754676G>C	ENST00000451292.1	+	10	1546	c.1438G>C	c.(1438-1440)Gag>Cag	p.E480Q	TCOF1_ENST00000513346.1_Missense_Mutation_p.E480Q|TCOF1_ENST00000323668.7_Missense_Mutation_p.E403Q|TCOF1_ENST00000439160.2_Missense_Mutation_p.E480Q|TCOF1_ENST00000394269.3_Missense_Mutation_p.E480Q|TCOF1_ENST00000504761.2_Missense_Mutation_p.E480Q|TCOF1_ENST00000445265.2_Missense_Mutation_p.E403Q|TCOF1_ENST00000377797.3_Missense_Mutation_p.E480Q			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	480					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCAGCAGCGAGGAGTCAGA	0.632000													3	49					0	0	0.000602214	0	0
SLC15A3	51296	broad.mit.edu	37	11	60714272	60714272	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:60714272C>A	ENST00000227880.3	-	2	813	c.580G>T	c.(580-582)Gcc>Tcc	p.A194S		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	194					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						CGGCGGGTGGCGTCGCGGCCG	0.592000													6	118					3.59834e-05	0.000600898	3.59834e-05	1	0
CD55	1604	broad.mit.edu	37	1	207495859	207495859	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:207495859C>A	ENST00000367064.3	+	2	491	c.233C>A	c.(232-234)tCa>tAa	p.S78*	CD55_ENST00000314754.8_Nonsense_Mutation_p.S78*|CD55_ENST00000367063.2_Nonsense_Mutation_p.S78*|CD55_ENST00000367065.5_Nonsense_Mutation_p.S78*|CD55_ENST00000391921.4_Nonsense_Mutation_p.S78*|CD55_ENST00000367067.4_Nonsense_Mutation_p.S78*|CD55_ENST00000391920.4_Nonsense_Mutation_p.S78*|CD55_ENST00000367062.4_Nonsense_Mutation_p.S78*	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	78	Sushi 1.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	GAGAAGGACTCAGTGATCTGC	0.423000													9	110					0.000151284	0.00236471	0.000151284	1	0
SPTLC2	9517	broad.mit.edu	37	14	78021666	78021666	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:78021666C>A	ENST00000216484.2	-	8	1346	c.1153G>T	c.(1153-1155)Gga>Tga	p.G385*		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	385						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	ATATATCCTCCAGAAGCACCA	0.502000													8	193					0.000157383	0.00236471	0.000157383	1	0
MGA	23269	broad.mit.edu	37	15	42058824	42058824	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:42058824C>G	ENST00000219905.7	+	24	8725	c.8544C>G	c.(8542-8544)ccC>ccG	p.P2848P	MGA_ENST00000389936.4_Silent_p.P2809P|MGA_ENST00000566586.1_Silent_p.P2639P|MGA_ENST00000570161.1_Silent_p.P2848P|MGA_ENST00000545763.1_Silent_p.P2639P	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2809						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CTGAACTACCCAGCTCTATGG	0.463000													6	186					0	0	8.12818e-05	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14977471	14977471	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:14977471G>T	ENST00000453695.2	-	6	539	c.95C>A	c.(94-96)tCc>tAc	p.S32Y	DCLRE1C_ENST00000396817.2_Missense_Mutation_p.S32Y|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.S37Y|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.S32Y|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.S32Y|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.S32Y|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.S152Y|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.S37Y|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.S37Y|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.S152Y	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	152					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						CCTGCCCCCGGAGTGCAGAAG	0.438000								Non-homologous end-joining					7	182					0.000673444	0.0084606	0.000673444	1	0
PIGB	9488	broad.mit.edu	37	15	55613524	55613524	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:55613524C>A	ENST00000164305.5	+	3	644	c.353C>A	c.(352-354)cCc>cAc	p.P118H	PIGB_ENST00000539642.1_Intron	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	118					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		TACACTTATCCCTTAATCTTT	0.323000													7	71					0.000442599	0.00584094	0.000442599	1	0
NFE2L3	9603	broad.mit.edu	37	7	26217610	26217610	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:26217610C>G	ENST00000056233.3	+	2	877	c.618C>G	c.(616-618)tcC>tcG	p.S206S		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	206					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						ATCATAGTTCCCAGCATGAGG	0.398000													4	122					0	0	0.00024832	0	0
IGHG4	3503	broad.mit.edu	37	14	106091268	106091268	+	RNA	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:106091268G>C	ENST00000390543.2	-	0	625																											GATGGAGGACGGGAGGCCTTT	0.612000													4	279					0	0	0.000157383	0	0
FGF21	26291	broad.mit.edu	37	19	49261218	49261218	+	Missense_Mutation	SNP	G	G	C	rs142980324		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:49261218G>C	ENST00000593756.1	+	4	943	c.371G>C	c.(370-372)cGg>cCg	p.R124P	FGF21_ENST00000222157.3_Missense_Mutation_p.R124P			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	124					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TGCAGCTTCCGGGAGCTGCTT	0.582000													5	194					0	0	0.000274275	0	0
TREML2	79865	broad.mit.edu	37	6	41166078	41166078	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:41166078G>C	ENST00000483722.1	-	2	330	c.145C>G	c.(145-147)Cgc>Ggc	p.R49G		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	49	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCCTCCACGCGGTTTTTGTAG	0.547000													5	251					0	0	3.59834e-05	0	0
F5	2153	broad.mit.edu	37	1	169555508	169555508	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:169555508C>G	ENST00000367796.3	-	1	318	c.117G>C	c.(115-117)caG>caC	p.Q39H	F5_ENST00000367797.3_Missense_Mutation_p.Q39H|F5_ENST00000546081.1_5'UTR			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	39	F5/8 type A 1.|Plastocyanin-like 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AACTGATGCCCTGAGCAGCCA	0.572000													4	46					0	0	0.00024832	0	0
GPR52	9293	broad.mit.edu	37	1	174418121	174418121	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:174418121G>C	ENST00000367685.2	+	1	910	c.872G>C	c.(871-873)cGg>cCg	p.R291P	RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	291						integral to plasma membrane	G-protein coupled receptor activity			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						GAAAGCTCCCGGGTCTTGGAC	0.418000													5	220					0	0	0.000157383	0	0
TTC37	9652	broad.mit.edu	37	5	94876527	94876527	+	Missense_Mutation	SNP	C	C	G	rs145559959	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:94876527C>G	ENST00000358746.2	-	8	708	c.410G>C	c.(409-411)cGa>cCa	p.R137P		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	137							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						GTGCCATGTTCGAGCCACCTA	0.323000													4	186					0	0	3.59834e-05	0	0
ANLN	54443	broad.mit.edu	37	7	36492118	36492118	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:36492118G>C	ENST00000265748.2	+	24	3505	c.3284G>C	c.(3283-3285)cGg>cCg	p.R1095P	ANLN_ENST00000396068.2_Missense_Mutation_p.R1058P	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	1095	Localization to the cleavage furrow.|PH.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AAAGAAGAGCGGGATCTCTGG	0.448000													5	213					0	0	3.59834e-05	0	0
ZBTB39	9880	broad.mit.edu	37	12	57398515	57398515	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:57398515C>G	ENST00000300101.2	-	2	272	c.187G>C	c.(187-189)Ggg>Cgg	p.G63R		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	63	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GCATCAAGCCCAGTATTCAGG	0.557000													5	179					0	0	0.000274275	0	0
CYP27A1	1593	broad.mit.edu	37	2	219677416	219677416	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:219677416C>G	ENST00000258415.4	+	4	1215	c.788C>G	c.(787-789)cCc>cGc	p.P263R		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	263					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	TGGACTCGCCCCGTGCTGCCT	0.567000													5	251					0	0	8.12818e-05	0	0
LAMB4	22798	broad.mit.edu	37	7	107710211	107710211	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:107710211C>G	ENST00000388781.3	-	18	2327	c.2244G>C	c.(2242-2244)ccG>ccC	p.P748P	LAMB4_ENST00000205386.4_Silent_p.P748P|LAMB4_ENST00000388780.3_Silent_p.P748P	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	748	Laminin IV type B.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CACAGGCACCCGGGAGCACTT	0.488000													4	125					0	0	0.000602214	0	0
MAST2	23139	broad.mit.edu	37	1	46501170	46501170	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:46501170C>T	ENST00000361297.2	+	29	5112	c.4829C>T	c.(4828-4830)cCc>cTc	p.P1610L	MAST2_ENST00000372009.2_Missense_Mutation_p.P1420L|MAST2_ENST00000372008.1_Intron	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	1610					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GCCACAGACCCCATCCCTCCT	0.632000													4	65					0	0	0.00024832	0	0
TRIP13	9319	broad.mit.edu	37	5	914637	914637	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:914637G>T	ENST00000166345.3	+	11	1434	c.1078G>T	c.(1078-1080)Ggc>Tgc	p.G360C		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	360					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			AGAGATGATTGGCTTCATTGA	0.448000													11	444					7.93312e-07	1.45693e-05	0.000219431	1	0
RPGRIP1L	23322	broad.mit.edu	37	16	53672265	53672265	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:53672265G>T	ENST00000379925.3	-	20	3067	c.3017C>A	c.(3016-3018)cCa>cAa	p.P1006Q	RPGRIP1L_ENST00000568009.1_5'UTR|RPGRIP1L_ENST00000262135.4_Intron|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.P1006Q|RPGRIP1L_ENST00000563746.1_Intron	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	1006					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TTCTATTTCTGGTATATGCTC	0.328000													14	311					0.000175454	0.00263491	0.000175454	1	0
BAG6	7917	broad.mit.edu	37	6	31615554	31615554	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:31615554G>A	ENST00000404765.2	-	7	891	c.602C>T	c.(601-603)cCg>cTg	p.P201L	BAG6_ENST00000362049.6_Missense_Mutation_p.P201L|BAG6_ENST00000211379.5_Missense_Mutation_p.P201L|BAG6_ENST00000439687.2_Missense_Mutation_p.P201L|BAG6_ENST00000375976.4_Missense_Mutation_p.P201L|BAG6_ENST00000375964.6_Missense_Mutation_p.P207L			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	207	Pro-rich.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GGTCACAGCCGGTGGCTGCGG	0.612000													7	312					0	0	8.12818e-05	0	0
PIP4K2A	5305	broad.mit.edu	37	10	22880591	22880591	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:22880591G>T	ENST00000376573.4	-	4	687	c.459C>A	c.(457-459)gcC>gcA	p.A153A	PIP4K2A_ENST00000323883.7_5'UTR|PIP4K2A_ENST00000545335.1_Silent_p.A94A|PIP4K2A_ENST00000422321.1_5'UTR	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	153	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						TGTGCATTTCGGCCACGTCTT	0.453000													7	152					0.000673444	0.0084606	0.000673444	1	0
LRRIQ1	84125	broad.mit.edu	37	12	85518214	85518214	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:85518214C>A	ENST00000393217.2	+	17	3985	c.3924C>A	c.(3922-3924)ccC>ccA	p.P1308P		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1308										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GCAGTATTCCCACCATAAGAA	0.358000													9	295					3.86212e-05	0.000638159	0.000673444	1	0
MKI67	4288	broad.mit.edu	37	10	129903076	129903076	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:129903076T>C	ENST00000368654.3	-	13	7403	c.7028A>G	c.(7027-7029)aAa>aGa	p.K2343R	MKI67_ENST00000368653.3_Missense_Mutation_p.K1983R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2343	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTGTGGAGATTTGCAGGCTAT	0.517000													5	259					0	0	6.40141e-05	0	0
ADSS	159	broad.mit.edu	37	1	244601071	244601071	+	Splice_Site	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:244601071C>A	ENST00000366535.3	-	2	500		c.e2-1			NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	adenylosuccinate synthase						AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	TATTTCCTCCCTAAAATGTAA	0.373000													11	211					0.000422831	0.00584094	0.000422831	1	0
ATAD2	29028	broad.mit.edu	37	8	124349872	124349872	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:124349872G>C	ENST00000287394.5	-	21	3151	c.3044C>G	c.(3043-3045)cCt>cGt	p.P1015R	ATAD2_ENST00000521903.1_Missense_Mutation_p.P333R	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1015	Bromo.				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)			TACCTCATCAGGGTCAACAGG	0.368000													5	102					0	0	8.12818e-05	0	0
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31726610	31726610	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:31726610G>T	ENST00000493662.2	+	15	1391	c.1335G>T	c.(1333-1335)ctG>ctT	p.L445L	MSH5_ENST00000534153.4_Silent_p.L445L|MSH5_ENST00000375750.3_Silent_p.L428L|MSH5_ENST00000375703.3_Silent_p.L428L|MSH5_ENST00000375742.3_Silent_p.L445L|MSH5_ENST00000375755.3_Silent_p.L428L|MSH5_ENST00000395853.1_Silent_p.L102L|MSH5_ENST00000375740.3_Silent_p.L445L|MSH5_ENST00000431848.2_Silent_p.L127L																							TGGAGAATCTGGACTCCCGTA	0.507000													10	250					0.000673444	0.0084606	0.000673444	1	0
ATAD1	84896	broad.mit.edu	37	10	89550073	89550073	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:89550073G>A	ENST00000308448.7	-	4	754	c.376C>T	c.(376-378)Cca>Tca	p.P126S	ATAD1_ENST00000328142.3_Missense_Mutation_p.P126S|ATAD1_ENST00000400215.3_Missense_Mutation_p.P68S|ATAD1_ENST00000495903.1_5'UTR|ATAD1_ENST00000541004.1_Missense_Mutation_p.P126S	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	126						peroxisome	ATP binding|nucleoside-triphosphatase activity			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		ATACCTTTTGGAGGCTGCAGA	0.348000													5	72					0	0	0.000602214	0	0
WDR3	10885	broad.mit.edu	37	1	118501574	118501574	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:118501574C>G	ENST00000349139.4	+	26	2671	c.2624C>G	c.(2623-2625)cCa>cGa	p.P875R	SPAG17_ENST00000336338.5_Intron	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	875						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		ATGCTTGTGCCAGTGATAGAA	0.383000													7	101					0	0	6.40141e-05	0	0
GPN2	54707	broad.mit.edu	37	1	27215461	27215461	+	Splice_Site	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:27215461C>G	ENST00000374135.4	-	2	767	c.568_splice	c.e2+1	p.L189_splice		NM_018066.3	NP_060536.3	Q9H9Y4	GPN2_HUMAN	GPN-loop GTPase 2	189							GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						AGCTCTTACCCAGCTTCCCAT	0.547000													6	245					0	0	0.000157383	0	0
C5orf24	134553	broad.mit.edu	37	5	134190668	134190668	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:134190668G>T	ENST00000394976.3	+	2	306	c.78G>T	c.(76-78)atG>atT	p.M26I	C5orf24_ENST00000435259.2_Missense_Mutation_p.M26I|C5orf24_ENST00000338051.4_Missense_Mutation_p.M26I|C5orf24_ENST00000504727.1_Missense_Mutation_p.M26I	NM_001135586.1	NP_001129058.1	Q7Z6I8	CE024_HUMAN	chromosome 5 open reading frame 24	26										breast(2)|endometrium(2)|lung(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAGATGCCATGAGAGCTGCTG	0.448000													9	233					0.000274275	0.0038898	0.000274275	1	0
LRIG3	121227	broad.mit.edu	37	12	59274658	59274658	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:59274658C>G	ENST00000320743.3	-	13	1792	c.1506G>C	c.(1504-1506)acG>acC	p.T502T	LRIG3_ENST00000379141.4_Silent_p.T442T	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	502	Ig-like C2-type 1.					integral to membrane		p.T502T(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CTGGCTGAACCGTGATCTGGG	0.423000			T	ROS1	NSCLC								4	169					0	0	3.59834e-05	0	0
RARS2	57038	broad.mit.edu	37	6	88229410	88229410	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:88229410G>C	ENST00000369536.5	-	14	1173	c.1128C>G	c.(1126-1128)ccC>ccG	p.P376P		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	376					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		CTACTCCAAAGGGCACGTGCT	0.418000													4	80					0	0	3.59834e-05	0	0
GGNBP2	79893	broad.mit.edu	37	17	34937857	34937857	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:34937857C>A	ENST00000304718.4	+	9	1420	c.1104C>A	c.(1102-1104)ctC>ctA	p.L368L		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	368					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TAAGAGAACTCAAGCAAGAAA	0.363000													9	143					0.000673444	0.0084606	0.000673444	1	0
C9orf43	257169	broad.mit.edu	37	9	116176160	116176160	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:116176160C>A	ENST00000288462.4	+	3	719	c.273C>A	c.(271-273)tcC>tcA	p.S91S	C9orf43_ENST00000374165.1_Silent_p.S91S|C9orf43_ENST00000490544.1_3'UTR	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	91										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						AGTTTTACTCCAAATTTCATG	0.353000													7	132					0.000673444	0.0084606	0.000673444	1	0
DOCK3	1795	broad.mit.edu	37	3	51370665	51370665	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:51370665G>A	ENST00000266037.9	+	35	3615	c.3592G>A	c.(3592-3594)Gaa>Aaa	p.E1198K		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1198	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCGCCTCATGGAACGTCTTCT	0.542000													7	101					0	0	0.000442599	0	0
KIAA0232	9778	broad.mit.edu	37	4	6826400	6826400	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:6826400C>T	ENST00000307659.5	+	3	675	c.220C>T	c.(220-222)Ctg>Ttg	p.L74L	KIAA0232_ENST00000425103.1_Silent_p.L74L	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	74							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TGACTACGACCTGCAGGAACA	0.393000													7	65					0	0	0.000274275	0	0
TRPM1	4308	broad.mit.edu	37	15	31319142	31319142	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:31319142G>T	ENST00000542188.1	-	25	3836	c.3523C>A	c.(3523-3525)Caa>Aaa	p.Q1175K	RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000256552.6_Missense_Mutation_p.Q1158K|TRPM1_ENST00000397795.2_Missense_Mutation_p.Q1136K|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1136					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CGTTCCTCTTGGTCCCCTTCT	0.478000													7	122					3.86212e-05	0.000638159	0.000673444	1	0
DRAM2	128338	broad.mit.edu	37	1	111668909	111668909	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:111668909C>G	ENST00000286692.4	-	4	756	c.139G>C	c.(139-141)Ggt>Cgt	p.G47R	DRAM2_ENST00000539140.1_Missense_Mutation_p.G47R|DRAM2_ENST00000484310.1_5'UTR			Q6UX65	DRAM2_HUMAN	DNA-damage regulated autophagy modulator 2	47					apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane				endometrium(1)|large_intestine(5)|lung(3)	9						GCTACTGTACCAGTGTCACTG	0.318000													4	100					0	0	3.59834e-05	0	0
KRTAP10-12	386685	broad.mit.edu	37	21	46117695	46117695	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:46117695C>A	ENST00000400365.3	+	1	609	c.579C>A	c.(577-579)tcC>tcA	p.S193S	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	193	19 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(8)	9						GACCCTCCTCCTCCGTGTCCC	0.692000													8	174					1.12685e-05	0.000195397	0.000274275	1	0
MAP3K10	4294	broad.mit.edu	37	19	40715033	40715033	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:40715033C>G	ENST00000253055.3	+	6	1747	c.1459C>G	c.(1459-1461)Cag>Gag	p.Q487E		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	487					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GATCACAGTCCAGGCCTCTCC	0.527000													4	177					0	0	3.59834e-05	0	0
FGD5	152273	broad.mit.edu	37	3	14862951	14862951	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:14862951C>G	ENST00000285046.5	+	1	2483	c.2373C>G	c.(2371-2373)ccC>ccG	p.P791P	FGD5_ENST00000543601.1_Silent_p.P550P	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	791					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AGATTCCACCCCGGAGACCTG	0.537000													5	168					0	0	3.59834e-05	0	0
CCT2	10576	broad.mit.edu	37	12	69985849	69985849	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:69985849G>T	ENST00000543146.2	+	8	1001	c.519G>T	c.(517-519)ttG>ttT	p.L173F	CCT2_ENST00000544368.2_Missense_Mutation_p.L220F|CCT2_ENST00000299300.6_Missense_Mutation_p.L220F	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	220					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GCTTCCTGTTGGATAAAAAAA	0.284000													9	225					7.93312e-07	1.45693e-05	0.000219431	1	0
MYH9	4627	broad.mit.edu	37	22	36690179	36690179	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:36690179G>T	ENST00000216181.5	-	28	4026	c.3796C>A	c.(3796-3798)Cgc>Agc	p.R1266S		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1266					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GTGCGCACGCGCTCTCCCTCG	0.657000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				5	97					0.000442599	0.00584094	0.000442599	1	0
NEFM	4741	broad.mit.edu	37	8	24775234	24775234	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:24775234G>T	ENST00000221166.5	+	3	2648	c.1866G>T	c.(1864-1866)gtG>gtT	p.V622V	NEFM_ENST00000518131.1_Intron|NEFM_ENST00000433454.2_Silent_p.V246V|NEFM_ENST00000521540.1_Intron|NEFM_ENST00000437366.2_Silent_p.V622V			P07197	NFM_HUMAN	neurofilament, medium polypeptide	622	6 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK].|Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AATCACCAGTGGAAGAGAAAG	0.522000													6	79					0.000157383	0.00236471	0.000157383	1	0
CACNA1D	776	broad.mit.edu	37	3	53760925	53760925	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:53760925G>A	ENST00000288139.3	+	16	2298	c.2180G>A	c.(2179-2181)tGg>tAg	p.W727*	CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.W707*|CACNA1D_ENST00000350061.5_Nonsense_Mutation_p.W707*	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	707					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)	GGCGAAGACTGGAATGCTGTG	0.517000													18	140					0	0	0.000229342	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99128823	99128823	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:99128823C>A	ENST00000394170.2	+	7	1722	c.1471C>A	c.(1471-1473)Caa>Aaa	p.Q491K	ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.Q491K|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.Q491K	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	491					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TGGAAAAACCCAAAGAAATGT	0.358000													14	370					0.00074312	0.0093281	0.00074312	1	0
GPATCH1	55094	broad.mit.edu	37	19	33587157	33587157	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:33587157C>A	ENST00000170564.2	+	7	971	c.657C>A	c.(655-657)ccC>ccA	p.P219P		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	219						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					CCTTTGCACCCAAAGATGTCA	0.458000													9	118					0.000673444	0.0084606	0.000673444	1	0
KRT25	147183	broad.mit.edu	37	17	38910645	38910645	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:38910645T>C	ENST00000312150.4	-	2	565	c.505A>G	c.(505-507)Aga>Gga	p.R169G		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	169	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TACTTGAGTCTGAAATCATCA	0.378000													4	150					0	0	0.000157383	0	0
CCDC34	91057	broad.mit.edu	37	11	27360394	27360394	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:27360394C>A	ENST00000328697.6	-	6	1769	c.1096G>T	c.(1096-1098)Gga>Tga	p.G366*	CCDC34_ENST00000529615.1_Intron	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	366										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						CACAGAGTTCCAAGGCAAAGA	0.363000													7	148					2.17888e-05	0.00037262	0.000442599	1	0
PDE4C	5143	broad.mit.edu	37	19	18330174	18330174	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:18330174G>T	ENST00000355502.3	-	12	1707	c.836C>A	c.(835-837)aCc>aAc	p.T279N	PDE4C_ENST00000594465.2_Missense_Mutation_p.T279N|PDE4C_ENST00000594617.2_Missense_Mutation_p.T279N|PDE4C_ENST00000262805.11_Missense_Mutation_p.T247N|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000539010.1_Missense_Mutation_p.T48N|PDE4C_ENST00000447275.2_Missense_Mutation_p.T173N			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	279					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	CTCCTCAGCGGTCACCTTGGG	0.652000													4	54					3.59834e-05	0.000600898	3.59834e-05	1	0
IVNS1ABP	10625	broad.mit.edu	37	1	185269201	185269201	+	Silent	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:185269201T>C	ENST00000367498.3	-	13	2053	c.1431A>G	c.(1429-1431)aaA>aaG	p.K477K	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Silent_p.K259K	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	477					interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						TTTTCAGTCCTTTTTGACCAT	0.323000													4	67					0	0	0.00024832	0	0
REXO1	57455	broad.mit.edu	37	19	1820371	1820371	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:1820371G>A	ENST00000170168.4	-	6	2512	c.2418C>T	c.(2416-2418)ccC>ccT	p.P806P		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	806						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAACTCTTTGGGGATAATGG	0.567000													5	101					0	0	3.59834e-05	0	0
EXT2	2132	broad.mit.edu	37	11	44148448	44148448	+	Missense_Mutation	SNP	C	C	G	rs141035971	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:44148448C>G	ENST00000395673.3	+	6	1177	c.1121C>G	c.(1120-1122)cCg>cGg	p.P374R	EXT2_ENST00000358681.4_Missense_Mutation_p.P341R|EXT2_ENST00000343631.3_Missense_Mutation_p.P341R|EXT2_ENST00000533608.1_Missense_Mutation_p.P341R	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	341					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GGCTGTGTCCCGGTTGTCATT	0.498000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				5	161					0	0	8.12818e-05	0	0
RCAN3	11123	broad.mit.edu	37	1	24859595	24859595	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:24859595G>C	ENST00000374395.4	+	4	705	c.392G>C	c.(391-393)cGg>cCg	p.R131P	RCAN3_ENST00000538532.1_Missense_Mutation_p.R73P|RCAN3_ENST00000412742.2_Intron|RCAN3_ENST00000436717.2_Intron|RCAN3_ENST00000374393.2_Intron	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	131					anatomical structure morphogenesis|calcium-mediated signaling		nucleotide binding|RNA binding|troponin I binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		GGCGAAGTGCGGGACAAGTCC	0.567000													3	46					0	0	6.4e-05	0	0
RYR1	6261	broad.mit.edu	37	19	39008294	39008294	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:39008294G>T	ENST00000355481.4	+	66	10112	c.9981G>T	c.(9979-9981)ctG>ctT	p.L3327L	RYR1_ENST00000360985.3_Silent_p.L3327L|RYR1_ENST00000359596.3_Silent_p.L3327L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3327					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)	TCAACAACCTGGGCATTGACG	0.667000													6	69					0.000274275	0.0038898	0.000274275	1	0
CHGB	1114	broad.mit.edu	37	20	5904518	5904518	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:5904518C>T	ENST00000378961.4	+	4	1932	c.1728C>T	c.(1726-1728)ttC>ttT	p.F576F		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	576						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AAAAGCCCTTCTCTGAGGATG	0.498000													11	74					0	0	0.000673444	0	0
LIPH	200879	broad.mit.edu	37	3	185251416	185251416	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:185251416C>A	ENST00000296252.4	-	3	610	c.469G>T	c.(469-471)Gcc>Tcc	p.A157S	LIPH_ENST00000424591.2_Missense_Mutation_p.A157S	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	157					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GATATGTGGGCTCCTAGACTT	0.483000													9	361					0.000422831	0.00584094	0.000422831	1	0
TIMM22	29928	broad.mit.edu	37	17	904266	904266	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:904266G>C	ENST00000327158.3	+	4	549	c.523G>C	c.(523-525)Ggg>Cgg	p.G175R		NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22 homolog (yeast)	175					transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity			breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CTTAAAGGCTGGGGCCATTGG	0.532000													5	235					0	0	3.59834e-05	0	0
TRBV5-7	28608	broad.mit.edu	37	7	142111646	142111646	+	RNA	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:142111646C>T	ENST00000390378.1	-	0	89																											TCGTTTTGATCAGGTGTGTGG	0.577000													28	92					0	0	0.000147802	0	0
STRN3	29966	broad.mit.edu	37	14	31420082	31420082	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:31420082G>C	ENST00000355683.5	-	4	744	c.529C>G	c.(529-531)Cag>Gag	p.Q177E	STRN3_ENST00000357479.5_Missense_Mutation_p.Q177E	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	177	Calmodulin-binding (Potential).				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		CTTAAAAGCTGTCTGCCTTGC	0.338000													6	158					0	0	3.59834e-05	0	0
AGAP3	116988	broad.mit.edu	37	7	150814734	150814734	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:150814734G>C	ENST00000397238.2	+	5	576	c.576G>C	c.(574-576)tgG>tgC	p.W192C	AGAP3_ENST00000463381.1_5'UTR|AGAP3_ENST00000335367.3_Missense_Mutation_p.W372C|AGAP3_ENST00000473312.1_Missense_Mutation_p.W192C|AGAP3_ENST00000476375.1_3'UTR|AGAP3_ENST00000479901.1_Missense_Mutation_p.W192C	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	156	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TTGCTGCCTGGGTGGATGCAG	0.537000													4	180					0	0	3.59834e-05	0	0
SMC1B	27127	broad.mit.edu	37	22	45754594	45754594	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:45754594G>T	ENST00000357450.4	-	19	2943	c.2944C>A	c.(2944-2946)Cta>Ata	p.L982I	SMC1B_ENST00000404354.3_Missense_Mutation_p.L982I	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	982					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCCTCTTTTAGAGAGCTGTAG	0.338000													7	144					1.08611e-07	2.0528e-06	6.40141e-05	1	0
AKR1A1	10327	broad.mit.edu	37	1	46027497	46027497	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:46027497G>C	ENST00000372070.3	+	3	778	c.31G>C	c.(31-33)Ggg>Cgg	p.G11R	AKR1A1_ENST00000351829.4_Missense_Mutation_p.G11R|AKR1A1_ENST00000471651.1_3'UTR	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	11					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)					ACTGCACACTGGGCAGAAGAT	0.527000													4	112					0	0	3.59834e-05	0	0
SMC1B	27127	broad.mit.edu	37	22	45750932	45750932	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:45750932G>T	ENST00000357450.4	-	20	3024	c.3025C>A	c.(3025-3027)Cag>Aag	p.Q1009K	SMC1B_ENST00000404354.3_Missense_Mutation_p.Q1009K	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	1009					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ATATCTTCCTGGGATGCTACT	0.453000													8	147					3.09899e-07	5.78755e-06	0.000274275	1	0
FBLN7	129804	broad.mit.edu	37	2	112944979	112944979	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:112944979C>A	ENST00000331203.2	+	8	1487	c.1216C>A	c.(1216-1218)Cag>Aag	p.Q406K	FBLN7_ENST00000409903.1_Silent_p.L321L|FBLN7_ENST00000409450.3_Missense_Mutation_p.Q360K|FBLN7_ENST00000409667.3_Missense_Mutation_p.Q272K	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	406					cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGAGGGGCCTCAGACGCTGGA	0.587000													6	89					0.000442599	0.00584094	0.000442599	1	0
IGLC2	3538	broad.mit.edu	37	22	23243367	23243367	+	RNA	SNP	T	T	C	rs8033	by1000genomes	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:23243367T>C	ENST00000390323.2	+	0	212																											CCAGCAGCTATCTGAGCCTGA	0.587000													6	35					0	0	3.59834e-05	0	0
XKR9	389668	broad.mit.edu	37	8	71646393	71646393	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:71646393C>T	ENST00000408926.3	+	5	1390	c.856C>T	c.(856-858)Cca>Tca	p.P286S	XKR9_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Missense_Mutation_p.P286S	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	286						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TACCAAGTGTCCAATGTCTTG	0.323000													10	60					0	0	6.40141e-05	0	0
ENTPD8	377841	broad.mit.edu	37	9	140332516	140332516	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:140332516C>G	ENST00000371506.2	-	3	330	c.147G>C	c.(145-147)gcG>gcC	p.A49A	ENTPD8_ENST00000344119.2_Silent_p.A49A|ENTPD8_ENST00000472938.1_Silent_p.A49A	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	49						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GGGAGGAGCCCGCATCAAACA	0.647000													3	33					0	0	0.000602214	0	0
HMCN1	83872	broad.mit.edu	37	1	186158700	186158700	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:186158700C>T	ENST00000271588.4	+	107	16827	c.16598C>T	c.(16597-16599)gCc>gTc	p.A5533V	HMCN1_ENST00000367492.2_Missense_Mutation_p.A5416V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5533					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGCCCATATGCCTTGGAATAC	0.448000													8	68					0	0	0.000442599	0	0
DHX15	1665	broad.mit.edu	37	4	24534619	24534619	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:24534619G>C	ENST00000336812.4	-	12	2124	c.1968C>G	c.(1966-1968)tcC>tcG	p.S656S	DHX15_ENST00000508032.1_5'UTR	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	656					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				CATTGTCTGCGGACATCAGGG	0.408000													5	283					0	0	0.000274275	0	0
INSR	3643	broad.mit.edu	37	19	7168046	7168046	+	Nonsense_Mutation	SNP	T	T	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:7168046T>A	ENST00000341500.5	-	7	1582	c.1543A>T	c.(1543-1545)Aga>Tga	p.R515*	INSR_ENST00000302850.5_Nonsense_Mutation_p.R515*	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	515					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGCTCCCATCTCAGCAAGATC	0.438000													50	354					0	0	0.000781405	0	0
PDS5A	23244	broad.mit.edu	37	4	39875996	39875996	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:39875996C>G	ENST00000303538.8	-	20	2729	c.2190G>C	c.(2188-2190)agG>agC	p.R730S		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	730					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						GTGGAGTACCCCTCTTTGCTT	0.348000													4	97					0	0	0.000157383	0	0
MUC17	140453	broad.mit.edu	37	7	100682276	100682276	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:100682276G>T	ENST00000306151.4	+	3	7643	c.7579G>T	c.(7579-7581)Gtg>Ttg	p.V2527L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2527	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACCACGCCAGTGGCCAGTCC	0.478000													7	310					2.17888e-05	0.00037262	0.000442599	1	0
TAS2R14	50840	broad.mit.edu	37	12	11091113	11091113	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:11091113T>C	ENST00000537503.1	-	1	749	c.694A>G	c.(694-696)Agt>Ggt	p.S232G	TAS2R14_ENST00000381852.4_5'UTR|PRR4_ENST00000536668.1_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	232					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						GTGATCACACTTTTAACTCCT	0.418000													3	67					0	0	0.00024832	0	0
DOCK8	81704	broad.mit.edu	37	9	463586	463586	+	Silent	SNP	C	C	A	rs139515839	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:463586C>A	ENST00000432829.2	+	47	6250	c.5934C>A	c.(5932-5934)ctC>ctA	p.L1978L	DOCK8_ENST00000469391.1_Silent_p.L1946L|RP11-165F24.3_ENST00000586805.1_RNA|RP11-165F24.3_ENST00000592805.1_RNA|RP11-165F24.3_ENST00000589387.1_RNA|RP11-165F24.3_ENST00000415004.2_RNA|RP11-165F24.3_ENST00000588474.1_RNA|RP11-165F24.3_ENST00000590518.1_RNA|RP11-165F24.3_ENST00000591577.1_RNA|RP11-165F24.3_ENST00000589287.1_RNA|RP11-165F24.3_ENST00000585819.1_RNA|DOCK8_ENST00000453981.1_Silent_p.L2046L|RP11-165F24.3_ENST00000593137.1_RNA|RP11-165F24.3_ENST00000588989.1_RNA|DOCK8_ENST00000382329.1_Silent_p.L1513L	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	2046					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGCAGGAACTCAAAAAGAACT	0.413000													7	67					8.12818e-05	0.00129777	8.12818e-05	1	0
CDH9	1007	broad.mit.edu	37	5	26886162	26886162	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:26886162C>T	ENST00000231021.4	-	10	1715	c.1543G>A	c.(1543-1545)Gat>Aat	p.D515N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	515	Cadherin 5.				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						GGAGGGTCATCCTTATCCATG	0.323000													22	159					0	0	0.00047179	0	0
DHTKD1	55526	broad.mit.edu	37	10	12142224	12142224	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:12142224C>G	ENST00000263035.4	+	9	1781	c.1719C>G	c.(1717-1719)acC>acG	p.T573T		NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	573					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			ACTGGGCCACCGCGGAAGCTC	0.413000													10	735					0	0	0.000151284	0	0
CASKIN1	57524	broad.mit.edu	37	16	2230323	2230323	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:2230323C>T	ENST00000343516.6	-	18	3138	c.3046G>A	c.(3046-3048)Ggg>Agg	p.G1016R		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	1016	Pro-rich.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GCCCGGCCCCCACCCCCAATG	0.731000													3	5					0	0	0.00024832	0	0
SNAI2	6591	broad.mit.edu	37	8	49831547	49831547	+	Splice_Site	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:49831547C>G	ENST00000396822.1	-	4	983	c.625_splice	c.e4-1	p.G209_splice	SNAI2_ENST00000020945.1_Splice_Site_p.G209_splice			O43623	SNAI2_HUMAN	snail family zinc finger 2	209					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				AGGCTTCTCCCCTGGGGGTGG	0.408000													4	74					0	0	0.00024832	0	0
DBF4	10926	broad.mit.edu	37	7	87507434	87507434	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:87507434C>A	ENST00000265728.1	+	2	617	c.113C>A	c.(112-114)cCa>cAa	p.P38Q		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	38					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				GATAACAGGCCAGAAAAATCC	0.343000													10	352					3.45872e-05	0.000585782	0.000422831	1	0
IGHV2-26	28455	broad.mit.edu	37	14	106757668	106757668	+	RNA	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:106757668T>C	ENST00000390611.2	-	0	362																											CACAGTAATATGTGGCTGTGT	0.542000													5	92					0	0	8.12818e-05	0	0
HDAC1	3065	broad.mit.edu	37	1	32782337	32782337	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:32782337C>A	ENST00000373548.3	+	3	318	c.234C>A	c.(232-234)tcC>tcA	p.S78S	HDAC1_ENST00000373541.2_5'UTR	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1	78	Histone deacetylase.				anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytosol|NuRD complex|Sin3 complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	TCTTGCGCTCCATCCGTCCAG	0.507000													8	182					0.000157383	0.00236471	0.000157383	1	0
TMEM194A	23306	broad.mit.edu	37	12	57458523	57458523	+	Splice_Site	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:57458523C>A	ENST00000300128.4	-	5	569		c.e5-1		TMEM194A_ENST00000379391.3_Splice_Site	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A							integral to membrane				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AATTTGACTTCTGCAGGAAAA	0.348000													7	154					8.12818e-05	0.00129777	8.12818e-05	1	0
MLLT3	4300	broad.mit.edu	37	9	20346498	20346498	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:20346498C>G	ENST00000380338.4	-	11	1936	c.1650G>C	c.(1648-1650)ctG>ctC	p.L550L	MLLT3_ENST00000355930.6_Silent_p.L120L|MLLT3_ENST00000429426.2_Silent_p.L547L|MLLT3_ENST00000380321.1_Silent_p.L144L	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	550					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TGGTTTTGTCCAGCGAGCAAA	0.373000			T	MLL	ALL								4	80					0	0	3.59834e-05	0	0
LRP2	4036	broad.mit.edu	37	2	170115625	170115625	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:170115625A>T	ENST00000263816.3	-	17	2708	c.2423T>A	c.(2422-2424)aTc>aAc	p.I808N	LRP2_ENST00000443831.1_Missense_Mutation_p.I671N	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	808					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CATGACACTGATACTCTTGTA	0.413000													5	63					0	0	0.000602214	0	0
RIOK1	83732	broad.mit.edu	37	6	7393457	7393457	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:7393457A>T	ENST00000379834.2	+	2	704	c.197A>T	c.(196-198)gAt>gTt	p.D66V		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	66							ATP binding|protein serine/threonine kinase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					tatgacgatgatgatgatgaC	0.438000													36	117					0	0	0.000491102	0	0
MAEL	84944	broad.mit.edu	37	1	166987192	166987192	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:166987192A>G	ENST00000367872.4	+	10	1281	c.1037A>G	c.(1036-1038)tAc>tGc	p.Y346C	MAEL_ENST00000367870.2_Missense_Mutation_p.Y315C|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	346					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GCAGGGCGTTACCAGGTAAGG	0.443000													3	56					0	0	0.00024832	0	0
RTN3	10313	broad.mit.edu	37	11	63486865	63486865	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:63486865G>T	ENST00000377819.5	+	3	1045	c.891G>T	c.(889-891)ctG>ctT	p.L297L	RTN3_ENST00000540798.1_Silent_p.L185L|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000339997.4_Silent_p.L278L	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	297					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TTTTTCCACTGAGAAATAAAG	0.438000													7	106					0.000442599	0.00584094	0.000442599	1	0
NEK11	79858	broad.mit.edu	37	3	130947505	130947505	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:130947505C>T	ENST00000383366.4	+	15	1826	c.1533C>T	c.(1531-1533)tcC>tcT	p.S511S	NEK11_ENST00000429253.2_Silent_p.S511S|NEK11_ENST00000510688.1_Silent_p.S511S|NEK11_ENST00000412440.2_Silent_p.S327S|NEK11_ENST00000508196.1_Silent_p.S511S|NEK11_ENST00000510769.1_Silent_p.S406S	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	511					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.S511S(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						ATGAGGGATCCCAGCCTGCTT	0.448000													7	55					0	0	0.000157383	0	0
HBP1	26959	broad.mit.edu	37	7	106826848	106826848	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:106826848C>G	ENST00000222574.4	+	5	769	c.583C>G	c.(583-585)Ctg>Gtg	p.L195V	HBP1_ENST00000468410.1_Missense_Mutation_p.L195V|HBP1_ENST00000485846.1_Missense_Mutation_p.L195V	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	195					cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						CATGTCCTCCCTGTCAGATGA	0.333000													4	177					0	0	0.000157383	0	0
CENPJ	55835	broad.mit.edu	37	13	25486153	25486153	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:25486153G>T	ENST00000381884.4	-	3	684	c.499C>A	c.(499-501)Caa>Aaa	p.Q167K	CENPJ_ENST00000545981.1_Missense_Mutation_p.Q167K	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	167					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CTCTGTAGTTGCTCCAACTGT	0.403000													6	190					0.000442599	0.00584094	0.000442599	1	0
MYH1	4619	broad.mit.edu	37	17	10406562	10406562	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:10406562C>T	ENST00000226207.5	-	23	2789	c.2695G>A	c.(2695-2697)Gct>Act	p.A899T	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	899						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AAGCTGTCAGCTTCCTGAGAA	0.353000													10	162					0	0	0.000673444	0	0
STIP1	10963	broad.mit.edu	37	11	63967719	63967719	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:63967719G>T	ENST00000358794.5	+	10	1893	c.1340G>T	c.(1339-1341)cGa>cTa	p.R447L	STIP1_ENST00000538945.1_Missense_Mutation_p.R376L|STIP1_ENST00000305218.4_Missense_Mutation_p.R400L			P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	400					axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						TACAGCAATCGAGCTGCCTGC	0.517000													7	194					2.27111e-07	4.26548e-06	0.00010058	1	0
WTIP	126374	broad.mit.edu	37	19	34984430	34984430	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:34984430G>A	ENST00000590071.2	+	5	1271	c.934G>A	c.(934-936)Ggc>Agc	p.G312S	WTIP_ENST00000270288.6_Missense_Mutation_p.G536S	NM_001080436.1	NP_001073905.1			Wilms tumor 1 interacting protein											NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CTACCACCCAGGCTGCTTCCG	0.647000													4	48					0	0	0.00024832	0	0
C14orf37	145407	broad.mit.edu	37	14	58605693	58605693	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:58605693G>C	ENST00000267485.7	-	2	578	c.384C>G	c.(382-384)tcC>tcG	p.S128S	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	128						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CTGGCTGGCTGGAACCAAATA	0.507000													4	88					0	0	0.00024832	0	0
DHX36	170506	broad.mit.edu	37	3	154042037	154042037	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:154042037G>A	ENST00000496811.1	-	1	249	c.169C>T	c.(169-171)Ctg>Ttg	p.L57L	DHX36_ENST00000329463.5_Silent_p.L57L|DHX36_ENST00000544526.1_Silent_p.L57L|DHX36_ENST00000308361.6_Silent_p.L57L	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	57	Gly-rich.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CGGCCTTTCAGGTGCCCGGGA	0.652000													5	78					0	0	0.000602214	0	0
UBASH3A	53347	broad.mit.edu	37	21	43862570	43862570	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:43862570C>A	ENST00000319294.6	+	12	1526	c.1495C>A	c.(1495-1497)Ctg>Atg	p.L499M	UBASH3A_ENST00000291535.6_Missense_Mutation_p.L461M|UBASH3A_ENST00000398367.1_Missense_Mutation_p.L461M	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	499	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						AGAACTCAAACTGGAGAAAAA	0.428000													6	183					0.000442599	0.00584094	0.000442599	1	0
KPNA6	23633	broad.mit.edu	37	1	32620206	32620206	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:32620206G>C	ENST00000373625.3	+	2	115	c.22G>C	c.(22-24)Ggg>Cgg	p.G8R	KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000545542.1_Missense_Mutation_p.G13R|KPNA6_ENST00000537234.1_Missense_Mutation_p.G5R	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	8	IBB.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GGCGAGCCCAGGGAAAGACAA	0.448000													4	70					0	0	3.59834e-05	0	0
LRRC37B	114659	broad.mit.edu	37	17	30362590	30362590	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:30362590G>T	ENST00000327564.7	+	7	2197	c.2136G>T	c.(2134-2136)atG>atT	p.M712I	LRRC37B_ENST00000341671.7_Missense_Mutation_p.M685I|LRRC37B_ENST00000584368.1_Missense_Mutation_p.M646I|LRRC37B_ENST00000394713.3_Missense_Mutation_p.M634I|LRRC37B_ENST00000543378.2_Missense_Mutation_p.M603I			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	685						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TCAGAGACATGGGAACAACAC	0.313000													9	279					0.000673444	0.0084606	0.000673444	1	0
OR6C3	254786	broad.mit.edu	37	12	55725634	55725634	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:55725634C>G	ENST00000379667.1	+	1	150	c.150C>G	c.(148-150)tcC>tcG	p.S50S		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TTGTGGACTCCCATCTGCAGA	0.388000													4	188					0	0	0.000157383	0	0
OXTR	5021	broad.mit.edu	37	3	8794834	8794834	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:8794834C>A	ENST00000316793.3	-	4	1623	c.999G>T	c.(997-999)acG>acT	p.T333T	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	333					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	AGAGGTGGCCCGTGAACAGCA	0.612000													4	42					2.0095e-06	3.63673e-05	8.12818e-05	1	0
UIMC1	51720	broad.mit.edu	37	5	176378527	176378527	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:176378527G>T	ENST00000377219.2	-	9	1557	c.1391C>A	c.(1390-1392)cCa>cAa	p.P464Q	UIMC1_ENST00000506128.1_Missense_Mutation_p.P298Q|UIMC1_ENST00000377227.4_Missense_Mutation_p.P464Q|UIMC1_ENST00000503273.1_5'UTR|UIMC1_ENST00000511320.1_Missense_Mutation_p.P464Q	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	464	Necessary for interaction with NR6A1 C- terminus.				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGCTACCTGGAGAGACTTC	0.353000													9	391					1.49906e-05	0.000258586	0.000219431	1	0
SLFN5	162394	broad.mit.edu	37	17	33586577	33586577	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:33586577C>T	ENST00000299977.4	+	2	1016	c.868C>T	c.(868-870)Cgt>Tgt	p.R290C	SLFN5_ENST00000542451.1_Missense_Mutation_p.R290C|SLFN5_ENST00000592325.1_Missense_Mutation_p.R290C	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	290					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GGGGGCCCTCCGTGGATATGT	0.473000													26	176					0	0	0.000227799	0	0
ECT2	1894	broad.mit.edu	37	3	172480730	172480730	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:172480730C>G	ENST00000417960.1	+	11	1417	c.940C>G	c.(940-942)Cga>Gga	p.R314G	ECT2_ENST00000540509.1_Missense_Mutation_p.R346G|ECT2_ENST00000232458.5_Missense_Mutation_p.R315G|ECT2_ENST00000441497.2_Missense_Mutation_p.R315G|ECT2_ENST00000427830.1_Missense_Mutation_p.R315G|ECT2_ENST00000392692.3_Missense_Mutation_p.R346G	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	315	BRCT 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AATGGATGCCCGAGCTGGAGA	0.328000													4	114					0	0	3.59834e-05	0	0
TMEM67	91147	broad.mit.edu	37	8	94822102	94822102	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:94822102C>A	ENST00000453321.3	+	26	2809	c.2751C>A	c.(2749-2751)agC>agA	p.S917R	TMEM67_ENST00000409623.3_Missense_Mutation_p.S836R	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	917					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TGGAAAAAAGCATCTTTTACA	0.279000													6	144					5.18039e-06	9.2077e-05	0.000157383	1	0
LHX4	89884	broad.mit.edu	37	1	180235663	180235663	+	Missense_Mutation	SNP	G	G	A	rs150875319	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:180235663G>A	ENST00000263726.2	+	3	629	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K		NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	129	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						CACGGGGGACGAATTCTACCT	0.607000													12	59					0	0	0.000151284	0	0
FAM21A	387680	broad.mit.edu	37	10	51863872	51863872	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:51863872T>C	ENST00000351071.6	+	18	1824	c.1706T>C	c.(1705-1707)tTg>tCg	p.L569S	FAM21A_ENST00000399339.2_Missense_Mutation_p.L481S|FAM21A_ENST00000282633.5_Missense_Mutation_p.L569S|FAM21A_ENST00000314664.7_Missense_Mutation_p.L569S			Q641Q2	FA21A_HUMAN	family with sequence similarity 21, member A	569					retrograde transport, endosome to Golgi	early endosome membrane|WASH complex				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						CTCCCCACGTTGGTTTCCCTG	0.388000													5	124					0	0	0.000602214	0	0
MIEF2	125170	broad.mit.edu	37	17	18166425	18166425	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:18166425G>T	ENST00000323019.4	+	3	384	c.173G>T	c.(172-174)cGg>cTg	p.R58L	SMCR7_ENST00000395703.4_Missense_Mutation_p.R58L|SMCR7_ENST00000395706.2_Missense_Mutation_p.R69L|SMCR7_ENST00000578174.1_Missense_Mutation_p.R58L|SMCR7_ENST00000578621.1_Missense_Mutation_p.R58L|SMCR7_ENST00000395704.4_Missense_Mutation_p.R58L|SMCR7_ENST00000577216.1_Intron	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN		58						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					ACTAGCCCGCGGGATGAGGAT	0.577000													5	78					8.12818e-05	0.00129777	8.12818e-05	1	0
KRR1	11103	broad.mit.edu	37	12	75897745	75897745	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:75897745G>A	ENST00000229214.4	-	7	793	c.770C>T	c.(769-771)cCa>cTa	p.P257L	KRR1_ENST00000438169.2_Intron	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	257	Lys-rich.				rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TTTTTTCTTTGGTTCCTTGCG	0.358000													6	95					0	0	3.59834e-05	0	0
CHFR	55743	broad.mit.edu	37	12	133433143	133433143	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:133433143G>T	ENST00000266880.7	-	11	1239	c.1176C>A	c.(1174-1176)ccC>ccA	p.P392P	CHFR_ENST00000315585.7_Silent_p.P351P|CHFR_ENST00000450056.2_Silent_p.P380P|CHFR_ENST00000432561.2_Silent_p.P392P|CHFR_ENST00000443047.2_Silent_p.P300P|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000537522.1_Silent_p.P14P			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	392					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.P351P(1)|p.P392P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		GCCTGACTTTGGGCTGCAGCA	0.463000													9	294					5.50884e-06	9.71621e-05	0.00010058	1	0
KALRN	8997	broad.mit.edu	37	3	124374466	124374466	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:124374466G>C	ENST00000360013.3	+	39	5938	c.5811G>C	c.(5809-5811)ctG>ctC	p.L1937L	KALRN_ENST00000393496.1_Silent_p.L278L|KALRN_ENST00000428018.2_Silent_p.L208L|KALRN_ENST00000291478.4_Silent_p.L240L|KALRN_ENST00000459915.1_Silent_p.L29L	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1936	DH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGAATGAGCTGGTACAGACAG	0.458000													4	166					0	0	0.000157383	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21032535	21032535	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:21032535C>T	ENST00000381545.3	+	11	1520	c.1301C>T	c.(1300-1302)tCa>tTa	p.S434L	LST3_ENST00000540229.1_Missense_Mutation_p.S434L|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.S434L|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.S434L	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	434					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.S434L(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GAAAGCAAATCAGTTGCCGGC	0.313000													13	130					0	0	0.000219431	0	0
ULK1	8408	broad.mit.edu	37	12	132393304	132393304	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:132393304C>T	ENST00000321867.4	+	6	783	c.432C>T	c.(430-432)atC>atT	p.I144I		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	144	Protein kinase.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CGCAGAACATCCTGCTGTCCA	0.692000													6	14					0	0	3.59834e-05	0	0
NEK1	4750	broad.mit.edu	37	4	170523180	170523180	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:170523180G>C	ENST00000439128.2	-	3	833	c.193C>G	c.(193-195)Cag>Gag	p.Q65E	NEK1_ENST00000512193.1_Missense_Mutation_p.Q65E|NEK1_ENST00000507142.1_Missense_Mutation_p.Q65E|NEK1_ENST00000511633.1_Missense_Mutation_p.Q65E|NEK1_ENST00000510533.1_Missense_Mutation_p.Q65E	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	65	Protein kinase.				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCTCTATACTGGACAATATTT	0.318000													10	239					0	0	0.000566183	0	0
NFATC2	4773	broad.mit.edu	37	20	50092014	50092014	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:50092014T>G	ENST00000371564.3	-	4	1735	c.1516A>C	c.(1516-1518)Aaa>Caa	p.K506Q	NFATC2_ENST00000414705.1_Missense_Mutation_p.K486Q|NFATC2_ENST00000396009.3_Missense_Mutation_p.K506Q	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	506	RHD.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	p.K506Q(1)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					ATGTTGTTTTTGGGCTCCAAG	0.577000													4	111					0	0	0.00024832	0	0
MGAM	8972	broad.mit.edu	37	7	141759688	141759688	+	Silent	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:141759688T>C	ENST00000475668.2	+	33	4035	c.3981T>C	c.(3979-3981)ccT>ccC	p.P1327P	MGAM_ENST00000549489.2_Silent_p.P1327P			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1327	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.P1327P(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGACACAGCCTTATCCTGCCT	0.463000													3	28					0	0	6.4e-05	0	0
RORB	6096	broad.mit.edu	37	9	77275561	77275561	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:77275561C>G	ENST00000376896.2	+	5	1278	c.666C>G	c.(664-666)tcC>tcG	p.S222S	RORB_ENST00000396204.2_Silent_p.S233S	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	233	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						TCATTAAGTCCCATTTGGAGA	0.393000													6	169					0	0	3.59834e-05	0	0
TANC2	26115	broad.mit.edu	37	17	61457105	61457105	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:61457105G>C	ENST00000424789.2	+	13	2391	c.2387G>C	c.(2386-2388)tGg>tCg	p.W796S	TANC2_ENST00000389520.4_Missense_Mutation_p.W796S	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	796							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CTTGCCTTCTGGTTTTCCCGC	0.378000													4	98					0	0	0.000157383	0	0
FCF1	51077	broad.mit.edu	37	14	75200809	75200809	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:75200809C>A	ENST00000341162.4	+	7	538	c.484C>A	c.(484-486)Cgg>Agg	p.R162R	FCF1_ENST00000534938.2_Silent_p.R150R|FCF1_ENST00000553615.1_Silent_p.R147R	NM_015962.4	NP_057046.1	Q9Y324	FCF1_HUMAN	FCF1 rRNA-processing protein	162	PINc.				rRNA processing	nucleolus				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		CACAGTTGACCGGGACCTGAA	0.423000													5	85					8.12818e-05	0.00129777	8.12818e-05	1	0
ACO2	50	broad.mit.edu	37	22	41918986	41918986	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:41918986G>C	ENST00000396512.3	+	10	1383	c.1366G>C	c.(1366-1368)Ggc>Cgc	p.G456R	ACO2_ENST00000216254.4_Missense_Mutation_p.G431R			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	431					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						TGAGCGGGACGGCTATGTGAG	0.642000													10	75					0	0	0.000442599	0	0
TTC40	54777	broad.mit.edu	37	10	134647603	134647603	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:134647603G>C	ENST00000368586.5	-	49	6991	c.6891C>G	c.(6889-6891)gcC>gcG	p.A2297A	TTC40_ENST00000263170.5_Silent_p.A458A	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	458										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TCCCTGAATCGGCAACAACCG	0.522000													4	128					0	0	0.00024832	0	0
OR4K5	79317	broad.mit.edu	37	14	20389635	20389635	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:20389635G>A	ENST00000315915.4	+	1	895	c.870G>A	c.(868-870)agG>agA	p.R290R		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATACACTAAGGAATAGGGATA	0.398000													14	154					0	0	9.7654e-05	0	0
GPSM2	29899	broad.mit.edu	37	1	109440160	109440160	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:109440160G>T	ENST00000406462.1	+	5	1098	c.325G>T	c.(325-327)Gga>Tga	p.G109*	GPSM2_ENST00000264126.3_Nonsense_Mutation_p.G109*|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	109					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		TGGTAATCTGGGAAACACCTT	0.373000													9	299					5.50884e-06	9.71621e-05	0.00010058	1	0
MCOLN1	57192	broad.mit.edu	37	19	7595366	7595366	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:7595366C>G	ENST00000264079.6	+	12	1679	c.1554C>G	c.(1552-1554)acC>acG	p.T518T		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	518					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGCTCATCACCGGCGCCTACG	0.622000													4	173					0	0	0.00024832	0	0
ALDH1A1	216	broad.mit.edu	37	9	75524622	75524622	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:75524622G>C	ENST00000297785.3	-	11	1308	c.1254C>G	c.(1252-1254)atC>atG	p.I418M		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	418					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TTGCTCTTTTGATCACGTCAT	0.343000													4	177					0	0	3.59834e-05	0	0
OR8U1	219417	broad.mit.edu	37	11	56143335	56143335	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:56143335C>G	ENST00000302270.1	+	1	236	c.236C>G	c.(235-237)cCc>cGc	p.P79R		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1									p.P79H(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					GTCATTACACCCAAAATGCTT	0.388000													4	94					0	0	3.59834e-05	0	0
TAF2	6873	broad.mit.edu	37	8	120793372	120793372	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:120793372C>A	ENST00000378164.2	-	17	2472	c.2174G>T	c.(2173-2175)aGg>aTg	p.R725M		NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	725					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACAAAACATCCTAGTGAAGAG	0.338000													9	143					9.31168e-06	0.000163173	0.000151284	1	0
ZNF710	374655	broad.mit.edu	37	15	90617430	90617430	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:90617430C>G	ENST00000268154.4	+	4	1984	c.1733C>G	c.(1732-1734)cCc>cGc	p.P578R		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	578					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			TTCAAGTGCCCCTACTGCTCC	0.587000													5	81					0	0	0.000157383	0	0
KAT8	84148	broad.mit.edu	37	16	31138568	31138568	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:31138568G>C	ENST00000543774.2	+	6	910	c.575G>C	c.(574-576)tGg>tCg	p.W192S	KAT8_ENST00000448516.2_Missense_Mutation_p.W192S|KAT8_ENST00000219797.4_Missense_Mutation_p.W192S			Q9H7Z6	MYST1_HUMAN	K(lysine) acetyltransferase 8	192					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding										ATTGATGCCTGGTATTTCTCA	0.517000													4	103					0	0	0.00024832	0	0
MRPL39	54148	broad.mit.edu	37	21	26972170	26972170	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:26972170C>G	ENST00000307301.7	-	5	570	c.529G>C	c.(529-531)Ggt>Cgt	p.G177R	MRPL39_ENST00000352957.4_Missense_Mutation_p.G177R	NM_080794.3	NP_542984.2	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	177						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						CAGAAGGCACCAGAAATTACT	0.343000													5	162					0	0	0.000602214	0	0
ZNF528	84436	broad.mit.edu	37	19	52918958	52918958	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:52918958G>T	ENST00000360465.3	+	7	1279	c.853G>T	c.(853-855)Gca>Tca	p.A285S	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TTCAAAGCTTGCACAACATCA	0.368000													6	226					0.000274275	0.0038898	0.000274275	1	0
A4GNT	51146	broad.mit.edu	37	3	137843679	137843679	+	Silent	SNP	C	C	G	rs146152770		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:137843679C>G	ENST00000236709.3	-	3	651	c.450G>C	c.(448-450)tcG>tcC	p.S150S		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	150					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						GGGATGCATCCGAGCTGATGT	0.567000													4	205					0	0	0.000157383	0	0
SPATA6	54558	broad.mit.edu	37	1	48771468	48771468	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:48771468G>C	ENST00000371847.3	-	12	1441	c.1277C>G	c.(1276-1278)cCc>cGc	p.P426R	SPATA6_ENST00000396199.3_Missense_Mutation_p.P354R|SPATA6_ENST00000371843.3_Missense_Mutation_p.P410R	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	426					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CCTATACTCGGGGTCACTGTC	0.318000													4	155					0	0	0.000602214	0	0
CNIH4	29097	broad.mit.edu	37	1	224559026	224559026	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:224559026C>A	ENST00000465271.1	+	4	368	c.293C>A	c.(292-294)cCa>cAa	p.P98Q	CNIH4_ENST00000468318.1_3'UTR|CNIH4_ENST00000366856.3_Missense_Mutation_p.P98Q|CNIH4_ENST00000366857.5_Intron|CNIH4_ENST00000366858.3_Intron	NM_014184.3	NP_054903.1	Q9P003	CNIH4_HUMAN	cornichon family AMPA receptor auxiliary protein 4	98					intracellular signal transduction	endoplasmic reticulum|integral to membrane	protein binding			kidney(3)|lung(2)|ovary(2)	7				GBM - Glioblastoma multiforme(131;0.00341)		GTGTTTGATCCAACAGAAATA	0.388000													6	126					7.48243e-07	1.3784e-05	0.000442599	1	0
TDRD9	122402	broad.mit.edu	37	14	104481125	104481125	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:104481125C>G	ENST00000409874.4	+	21	2218	c.2170C>G	c.(2170-2172)Cgg>Ggg	p.R724G	TDRD9_ENST00000339063.5_Missense_Mutation_p.R724G	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	724					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TGTTGATTCTCGGCGACCTGT	0.373000													5	121					0	0	8.12818e-05	0	0
INPP5F	22876	broad.mit.edu	37	10	121556256	121556256	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:121556256C>G	ENST00000361976.2	+	7	865	c.699C>G	c.(697-699)ccC>ccG	p.P233P	INPP5F_ENST00000369083.3_Silent_p.P233P	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	233	SAC.						phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		GGATTATCCCCATGATCCAAG	0.413000													4	161					0	0	3.59834e-05	0	0
KMT2C	58508	broad.mit.edu	37	7	151962185	151962185	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:151962185C>G	ENST00000355193.2	-	8	1340	c.1122G>C	c.(1120-1122)gcG>gcC	p.A374A	KMT2C_ENST00000262189.6_Silent_p.A374A					lysine (K)-specific methyltransferase 2C									p.A374A(2)									ATGGAGTAACCGCTATATCCA	0.448000													6	466					0	0	0.000274275	0	0
TRIML1	339976	broad.mit.edu	37	4	189068456	189068456	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:189068456C>T	ENST00000332517.3	+	6	1477	c.1337C>T	c.(1336-1338)tCc>tTc	p.S446F	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	446	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CCTATCTTTTCCCCCTGCCTC	0.562000													22	108					0	0	0.000586117	0	0
SRSF11	9295	broad.mit.edu	37	1	70687416	70687416	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:70687416G>T	ENST00000370950.3	+	2	179	c.97G>T	c.(97-99)Gag>Tag	p.E33*	SRSF11_ENST00000454435.2_Nonsense_Mutation_p.E33*|SRSF11_ENST00000436161.2_Nonsense_Mutation_p.E33*|SRSF11_ENST00000405432.1_Nonsense_Mutation_p.E33*|SRSF11_ENST00000370951.1_Nonsense_Mutation_p.E33*			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	33	RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			large_intestine(3)|ovary(2)|skin(1)	6						cggcggcACCGAGGTAATCCA	0.667000													8	107					0.000442599	0.00584094	0.000442599	1	0
KLRC2	3822	broad.mit.edu	37	12	10588543	10588543	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:10588543G>T	ENST00000381902.2	-	1	49	c.43C>A	c.(43-45)Cag>Aag	p.Q15K	NKG2-E_ENST00000539033.1_Missense_Mutation_p.Q15K|KLRC2_ENST00000381901.1_Missense_Mutation_p.Q15K|KLRC2_ENST00000536833.2_Intron	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C, member 2	15					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						TTTGGGTCCTGGGCCAGACTC	0.428000													9	237					0.00010058	0.00160074	0.00010058	1	0
VWA3B	200403	broad.mit.edu	37	2	98804585	98804585	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:98804585C>G	ENST00000477737.1	+	10	1663	c.1459C>G	c.(1459-1461)Cga>Gga	p.R487G	VWA3B_ENST00000435344.1_Missense_Mutation_p.R487G|VWA3B_ENST00000451075.2_Missense_Mutation_p.R337G	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	487										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GGCCCGGATCCGAAGGAGGTT	0.483000													4	83					0	0	3.59834e-05	0	0
TNPO1	3842	broad.mit.edu	37	5	72178919	72178919	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:72178919C>G	ENST00000337273.5	+	11	1436	c.1010C>G	c.(1009-1011)cCt>cGt	p.P337R	TNPO1_ENST00000447967.2_3'UTR|TNPO1_ENST00000454282.1_Missense_Mutation_p.P287R|TNPO1_ENST00000506351.2_Missense_Mutation_p.P329R|TNPO1_ENST00000523768.1_Missense_Mutation_p.P287R	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	337					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		GAAACGATTCCTGATAGTGAA	0.398000													4	171					0	0	3.59834e-05	0	0
DIRC2	84925	broad.mit.edu	37	3	122591290	122591290	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:122591290G>C	ENST00000261038.5	+	8	1565	c.1167G>C	c.(1165-1167)ctG>ctC	p.L389L		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	389					transport	integral to membrane		p.L389L(1)		endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GTATTCTCCTGGGAGTGTTCT	0.398000													5	214					0	0	0.000274275	0	0
SATB1	6304	broad.mit.edu	37	3	18419777	18419777	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:18419777G>T	ENST00000338745.6	-	9	3194	c.1460C>A	c.(1459-1461)cCa>cAa	p.P487Q	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Missense_Mutation_p.P487Q|SATB1_ENST00000454909.2_Missense_Mutation_p.P487Q	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	487					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						ATTGTTCTCTGGTTTCCCATT	0.383000													8	154					3.07112e-06	5.5112e-05	6.40141e-05	1	0
SLC12A1	6557	broad.mit.edu	37	15	48524941	48524941	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:48524941G>T	ENST00000396577.3	+	8	1208	c.993G>T	c.(991-993)ctG>ctT	p.L331L	SLC12A1_ENST00000559723.1_3'UTR|SLC12A1_ENST00000558405.1_Silent_p.L331L|SLC12A1_ENST00000380993.3_Silent_p.L331L|SLC12A1_ENST00000330289.6_Silent_p.L331L	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	331					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TCATTCTTCTGGTCATTCTTC	0.338000													10	151					0.000151284	0.00236471	0.000151284	1	0
CNDP1	84735	broad.mit.edu	37	18	72247448	72247448	+	Missense_Mutation	SNP	C	C	G	rs144587048		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:72247448C>G	ENST00000582365.1	+	9	1187	c.1121C>G	c.(1120-1122)cCg>cGg	p.P374R	CNDP1_ENST00000358821.3_Missense_Mutation_p.P417R			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	417					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GGACTACACCCGTGGATTGCA	0.443000													3	36					0	0	3.59834e-05	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11858939	11858939	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:11858939G>C	ENST00000396516.2	-	14	1987	c.1790C>G	c.(1789-1791)cCg>cGg	p.P597R	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.P597R			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	597						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						CTTTGTAACCGGGTGAGAACA	0.284000													9	186					0	0	0.00010058	0	0
PANK3	79646	broad.mit.edu	37	5	167990955	167990955	+	Missense_Mutation	SNP	G	G	T	rs146047826	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:167990955G>T	ENST00000239231.6	-	4	1067	c.751C>A	c.(751-753)Cgt>Agt	p.R251S	PANK3_ENST00000520504.1_Intron	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	251					coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		TAAATATCACGGACCAGCTTG	0.393000													6	213					0.000442599	0.00584094	0.000442599	1	0
SMS	6611	broad.mit.edu	37	X	21996107	21996107	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:21996107C>G	ENST00000404933.2	+	6	787	c.535C>G	c.(535-537)Cgg>Ggg	p.R179G	SMS_ENST00000379404.1_Missense_Mutation_p.R126G|SMS_ENST00000478094.1_3'UTR|SMS_ENST00000415881.2_Missense_Mutation_p.R83G	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	179					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	GGCATATACCCGGGCCATCAT	0.473000													4	170					0	0	8.12818e-05	0	0
CLDN17	26285	broad.mit.edu	37	21	31538549	31538549	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:31538549C>G	ENST00000286808.3	-	1	422	c.387G>C	c.(385-387)acG>acC	p.T129T		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	129					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						CGAAGATGCCCGTCAGGATGA	0.507000													4	99					0	0	8.12818e-05	0	0
CEP152	22995	broad.mit.edu	37	15	49088270	49088270	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:49088270G>C	ENST00000380950.2	-	6	815	c.628C>G	c.(628-630)Cag>Gag	p.Q210E	CEP152_ENST00000399334.3_Missense_Mutation_p.Q210E|CEP152_ENST00000325747.5_Missense_Mutation_p.Q117E	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	210					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GTTATCTCCTGGGCTGGTGAG	0.383000													4	93					0	0	0.00024832	0	0
MAN2C1	4123	broad.mit.edu	37	15	75652945	75652945	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:75652945G>A	ENST00000565683.1	-	13	1556	c.1545C>T	c.(1543-1545)ttC>ttT	p.F515F	MAN2C1_ENST00000563622.1_Silent_p.F416F|MAN2C1_ENST00000569482.1_Silent_p.F515F|MAN2C1_ENST00000267978.5_Silent_p.F515F	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	515					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GCAGCTCCAAGAAGAGCTCCC	0.587000													15	68					0	0	0.000566183	0	0
MTHFD1	4522	broad.mit.edu	37	14	64921593	64921593	+	Splice_Site	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:64921593G>T	ENST00000555709.1	+	26	3105	c.2718_splice	c.e26+1	p.T906_splice	MTHFD1_ENST00000545908.1_Splice_Site_p.T962_splice|ZBTB25_ENST00000555424.1_Intron|MTHFD1_ENST00000556284.1_3'UTR|MTHFD1_ENST00000216605.7_Splice_Site_p.T962_splice|ZBTB25_ENST00000555220.1_Intron	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	906	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	TAGTAGGAACGGTAAGTGCAT	0.532000													6	92					0.000157383	0.00236471	0.000157383	1	0
PIWIL2	55124	broad.mit.edu	37	8	22145101	22145101	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:22145101C>G	ENST00000356766.6	+	7	952	c.804C>G	c.(802-804)acC>acG	p.T268T	PIWIL2_ENST00000454009.2_Silent_p.T268T|PIWIL2_ENST00000521356.1_Silent_p.T268T	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	268					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AAGCTGTCACCGGCAACGTCA	0.443000											OREG0018608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	70					0	0	0.00024832	0	0
CDC123	8872	broad.mit.edu	37	10	12279142	12279142	+	Splice_Site	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:12279142G>T	ENST00000281141.4	+	9	845		c.e9-1		CDC123_ENST00000378900.2_Intron|CDC123_ENST00000455773.3_Splice_Site	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123						cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						TTTCTTGTCAGGTATTTCTCA	0.279000													13	465					0.000566183	0.00746526	0.000566183	1	0
GABRA6	2559	broad.mit.edu	37	5	161117342	161117342	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:161117342C>G	ENST00000523217.1	+	7	1021	c.779C>G	c.(778-780)cCa>cGa	p.P260R	GABRA6_ENST00000274545.5_Missense_Mutation_p.P270R	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	270					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GAGTCCGTCCCAGCAAGAACT	0.383000										TCGA Ovarian(5;0.080)			5	145					0	0	0.000274275	0	0
GLRA4	441509	broad.mit.edu	37	X	102974002	102974002	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:102974002G>T	ENST00000372617.4	-	7	1336	c.916C>A	c.(916-918)Cgg>Agg	p.R306R		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	306						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.R306W(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AAAGAGGCCCGGGAGCCAGAG	0.577000													5	125					0.000274275	0.0038898	0.000274275	1	0
UBASH3B	84959	broad.mit.edu	37	11	122650322	122650322	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:122650322G>T	ENST00000284273.5	+	4	895	c.520G>T	c.(520-522)Ggc>Tgc	p.G174C		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	174						cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CAACTTCATCGGCCTCTTTGT	0.572000													5	144					0.000157383	0.00236471	0.000157383	1	0
MBD5	55777	broad.mit.edu	37	2	149226825	149226825	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:149226825C>T	ENST00000407073.1	+	9	2310	c.1313C>T	c.(1312-1314)cCa>cTa	p.P438L	MBD5_ENST00000404807.1_Missense_Mutation_p.P438L	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	438						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TCCCCTTCTCCAGTGACATCC	0.483000													5	34					0	0	8.12818e-05	0	0
CCAR1	55749	broad.mit.edu	37	10	70547683	70547683	+	Splice_Site	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:70547683G>C	ENST00000265872.6	+	22	2999		c.e22-1		CCAR1_ENST00000543719.1_Splice_Site|CCAR1_ENST00000535016.1_Splice_Site	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1						apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						ATGCATAACAGGTAAAGAAGC	0.323000													4	95					0	0	0.00024832	0	0
SDAD1	55153	broad.mit.edu	37	4	76878723	76878723	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:76878723C>G	ENST00000356260.5	-	19	1835	c.1717G>C	c.(1717-1719)Ggg>Cgg	p.G573R	SDAD1_ENST00000395711.4_Missense_Mutation_p.G536R	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	573					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding	p.G573W(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGGGATTTCCCGGGGGCAGCA	0.463000													4	187					0	0	8.12818e-05	0	0
DNAH8	1769	broad.mit.edu	37	6	38802384	38802384	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:38802384C>G	ENST00000359357.3	+	30	3935	c.3681C>G	c.(3679-3681)ccC>ccG	p.P1227P	DNAH8_ENST00000441566.1_Silent_p.P1227P|DNAH8_ENST00000449981.2_Silent_p.P1444P					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATATACCACCCCAAGAAGCTA	0.328000													4	107					0	0	3.59834e-05	0	0
S100PBP	64766	broad.mit.edu	37	1	33318690	33318690	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:33318690G>T	ENST00000373475.5	+	6	1289	c.1035G>T	c.(1033-1035)ggG>ggT	p.G345G	S100PBP_ENST00000373476.1_Silent_p.G345G	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN	S100P binding protein	345						nucleus	calcium-dependent protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GTATCTCGGGGGAGCTTTGTG	0.478000													8	114					6.5536e-12	1.29102e-10	0.000157383	1	0
DPP9	91039	broad.mit.edu	37	19	4683594	4683594	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:4683594G>T	ENST00000262960.9	-	19	2503	c.2226C>A	c.(2224-2226)gcC>gcA	p.A742A	DPP9_ENST00000594671.1_Silent_p.A713A|DPP9_ENST00000598800.1_Silent_p.A713A|DPP9_ENST00000601173.1_5'UTR|AC005594.3_ENST00000381796.1_RNA	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	713					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CATACTTCTCGGCCACGAACT	0.632000													5	84					1.06961e-07	2.02547e-06	0.000157383	1	0
FAM118B	79607	broad.mit.edu	37	11	126110771	126110771	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:126110771C>G	ENST00000533050.1	+	4	664	c.171C>G	c.(169-171)ccC>ccG	p.P57P	FAM118B_ENST00000525728.1_3'UTR|FAM118B_ENST00000360194.4_Silent_p.P57P	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	57										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		CAGTTGCGCCCCAAGTTCCAG	0.438000													5	265					0	0	8.12818e-05	0	0
DNAH6	1768	broad.mit.edu	37	2	84806789	84806789	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:84806789G>A	ENST00000389394.3	+	14	2352	c.2215G>A	c.(2215-2217)Gaa>Aaa	p.E739K	DNAH6_ENST00000398278.2_Missense_Mutation_p.E739K|DNAH6_ENST00000237449.6_Missense_Mutation_p.E739K	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	739	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATTTCTTGATGAAATTCAGGA	0.358000													6	61					0	0	8.12818e-05	0	0
SLC28A3	64078	broad.mit.edu	37	9	86909137	86909137	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:86909137C>G	ENST00000376238.4	-	9	964	c.915G>C	c.(913-915)ctG>ctC	p.L305L	SLC28A3_ENST00000537648.1_Silent_p.L236L	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	305					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GCATCAGTCCCAGGTAGTACA	0.502000													4	117					0	0	3.59834e-05	0	0
G2E3	55632	broad.mit.edu	37	14	31066625	31066625	+	Splice_Site	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:31066625G>T	ENST00000206595.6	+	7	682		c.e7-1		G2E3_ENST00000553504.1_Splice_Site|G2E3_ENST00000544007.1_Splice_Site|G2E3_ENST00000438909.2_Splice_Site	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase						apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TTCCACTGTAGGTTCAAGCAA	0.294000													10	240					3.07112e-06	5.5112e-05	6.40141e-05	1	0
SLC26A2	1836	broad.mit.edu	37	5	149357677	149357677	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:149357677G>T	ENST00000286298.4	+	2	730	c.462G>T	c.(460-462)ttG>ttT	p.L154F		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	154						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ATTTTCTCTTGGGTACCTCCC	0.463000													6	102					1.06961e-07	2.02547e-06	0.000157383	1	0
TXNDC12	51060	broad.mit.edu	37	1	52492996	52492996	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:52492996G>A	ENST00000371626.4	-	4	1310	c.236C>T	c.(235-237)tCt>tTt	p.S79F	TXNDC12_ENST00000472624.1_5'UTR	NM_015913.3	NP_056997.1	O95831	AIFM1_HUMAN	thioredoxin domain containing 12 (endoplasmic reticulum)	0					activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						AATTTCCGTAGATTCTGCAAA	0.343000													17	104					0	0	0.000566183	0	0
TRIM4	89122	broad.mit.edu	37	7	99506320	99506320	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:99506320G>C	ENST00000355947.2	-	4	812	c.683C>G	c.(682-684)aCg>aGg	p.T228R	TRIM4_ENST00000349062.2_Missense_Mutation_p.T202R|TRIM4_ENST00000354241.5_Missense_Mutation_p.T202R	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	228					protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				CTTCTTCTTCGTCTCTTCTTC	0.448000													4	123					0	0	0.00024832	0	0
POU6F2	11281	broad.mit.edu	37	7	39503824	39503824	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:39503824C>A	ENST00000559001.1	+	8	1551	c.1450C>A	c.(1450-1452)Caa>Aaa	p.Q484K	POU6F2_ENST00000403058.1_Missense_Mutation_p.Q539K|POU6F2_ENST00000518318.2_Intron			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	539	POU-specific.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						ACAGGAAGCCCAAGAGAACAC	0.507000													8	202					4.93089e-13	9.74578e-12	0.000219431	1	0
ATL1	51062	broad.mit.edu	37	14	51058270	51058270	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:51058270G>C	ENST00000441560.2	+	5	916	c.435G>C	c.(433-435)atG>atC	p.M145I	ATL1_ENST00000354525.4_Missense_Mutation_p.M145I|ATL1_ENST00000357032.3_Missense_Mutation_p.M145I|ATL1_ENST00000358385.6_Missense_Mutation_p.M145I	NM_001127713.1	NP_001121185.1	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	145					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						TGTTATTGATGGATACTCAGG	0.353000													4	80					0	0	3.59834e-05	0	0
MED13L	23389	broad.mit.edu	37	12	116444179	116444179	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:116444179G>C	ENST00000281928.3	-	12	2482	c.2276C>G	c.(2275-2277)cCa>cGa	p.P759R		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	759					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GGAATGACCTGGTGTAGTGAC	0.418000													4	56					0	0	8.12818e-05	0	0
SYT9	143425	broad.mit.edu	37	11	7334931	7334931	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:7334931G>T	ENST00000318881.6	+	3	1040	c.803G>T	c.(802-804)cGg>cTg	p.R268L	SYT9_ENST00000396716.2_Missense_Mutation_p.R236L	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	268	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CTTCCTGATCGGAAAACAAAA	0.433000													7	165					0.000274275	0.0038898	0.000274275	1	0
ZNF630	57232	broad.mit.edu	37	X	47918962	47918962	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:47918962G>A	ENST00000276054.4	-	5	1431	c.497C>T	c.(496-498)cCa>cTa	p.P166L	ZNF630_ENST00000409324.3_Missense_Mutation_p.P290L|ZNF630_ENST00000442455.3_Missense_Mutation_p.P276L|ZNF630-AS1_ENST00000436124.1_RNA			Q2M218	ZN630_HUMAN	zinc finger protein 630	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						ACATACATATGGTTTCTCTCC	0.403000													17	128					0	0	0.00074312	0	0
ROBO1	6091	broad.mit.edu	37	3	78655978	78655978	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:78655978G>C	ENST00000436010.2	-	27	5529	c.4532C>G	c.(4531-4533)cCc>cGc	p.P1511R	ROBO1_ENST00000495273.1_Missense_Mutation_p.P1505R|ROBO1_ENST00000466906.1_5'UTR|ROBO1_ENST00000464233.1_Missense_Mutation_p.P1550R|ROBO1_ENST00000467549.1_Missense_Mutation_p.P1450R			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1550					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGCTTCTCTGGGATCACCTGG	0.473000													7	245					0	0	0.000274275	0	0
CLMP	79827	broad.mit.edu	37	11	122955376	122955376	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:122955376C>T	ENST00000448775.2	-	3	572	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K		NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	78	Ig-like C2-type 1.					integral to membrane|tight junction				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						CCCTTCTGTTCCTCAGTCAAG	0.532000													14	68					0	0	0.000219431	0	0
PDZD2	23037	broad.mit.edu	37	5	32061112	32061112	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:32061112G>C	ENST00000438447.1	+	14	2711	c.2323G>C	c.(2323-2325)Ggg>Cgg	p.G775R	PDZD2_ENST00000282493.3_Missense_Mutation_p.G775R			O15018	PDZD2_HUMAN	PDZ domain containing 2	775	PDZ 4.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.G775W(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCCTAGCCGCGGGGATCAAAT	0.493000													4	72					0	0	0.000602214	0	0
UBR5	51366	broad.mit.edu	37	8	103274169	103274169	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:103274169G>C	ENST00000520539.1	-	55	8422	c.7816C>G	c.(7816-7818)Ctg>Gtg	p.L2606V	UBR5_ENST00000518205.1_Missense_Mutation_p.L334V|UBR5_ENST00000220959.4_Missense_Mutation_p.L2605V|UBR5_ENST00000521922.1_Missense_Mutation_p.L2599V	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2606	HECT.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCTTTACACAGGTCAATTGCA	0.408000													4	155					0	0	0.000602214	0	0
PANK4	55229	broad.mit.edu	37	1	2450706	2450706	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:2450706C>G	ENST00000378466.3	-	7	923	c.911G>C	c.(910-912)gGg>gCg	p.G304A	PANK4_ENST00000435556.3_Missense_Mutation_p.G265A	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	304					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GGCCAGCTGCCCAATGTCGTT	0.577000													4	71					0	0	0.00024832	0	0
IQCG	84223	broad.mit.edu	37	3	197639590	197639590	+	Missense_Mutation	SNP	G	G	C	rs151126155		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:197639590G>C	ENST00000265239.6	-	9	1343	c.919C>G	c.(919-921)Cgg>Ggg	p.R307G	IQCG_ENST00000455191.1_Missense_Mutation_p.R307G	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	307										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		GTATGAGTCCGGGCCTCTTCT	0.448000													5	207					0	0	8.12818e-05	0	0
PRKCI	5584	broad.mit.edu	37	3	169999001	169999001	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:169999001C>A	ENST00000295797.4	+	10	1235	c.930C>A	c.(928-930)tcC>tcA	p.S310S		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	310	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AGCAGGCATCCAATCATCCTT	0.363000													6	113					0.000157383	0.00236471	0.000157383	1	0
KIAA1109	84162	broad.mit.edu	37	4	123128703	123128703	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:123128703G>C	ENST00000264501.4	+	17	2035	c.1662G>C	c.(1660-1662)ctG>ctC	p.L554L	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Silent_p.L554L|KIAA1109_ENST00000455637.1_Silent_p.L554L			Q2LD37	K1109_HUMAN	KIAA1109	554					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TAGTGTATCTGGCAGCCTGTG	0.284000													5	81					0	0	3.59834e-05	0	0
DOCK11	139818	broad.mit.edu	37	X	117722244	117722244	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:117722244C>T	ENST00000276204.6	+	17	2014	c.1940C>T	c.(1939-1941)cCc>cTc	p.P647L	DOCK11_ENST00000276202.7_Missense_Mutation_p.P647L|DOCK11_ENST00000498252.1_3'UTR			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	647	DHR-1.				blood coagulation	cytosol	GTP binding	p.P647L(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TATGTATATCCCCTGCAATTA	0.294000													8	116					0	0	0.000274275	0	0
SYNE1	23345	broad.mit.edu	37	6	152454552	152454552	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:152454552C>G	ENST00000367255.5	-	143	26461	c.25860G>C	c.(25858-25860)ctG>ctC	p.L8620L	SYNE1_ENST00000265368.4_Silent_p.L8620L|SYNE1_ENST00000356820.4_Silent_p.L3144L|SYNE1_ENST00000354674.4_Silent_p.L798L|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Silent_p.L8232L|SYNE1_ENST00000423061.1_Silent_p.L8572L|SYNE1_ENST00000539504.1_Silent_p.L775L|SYNE1_ENST00000448038.1_Silent_p.L8572L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8620					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGCATTCACCAGTAGTTGGC	0.393000										HNSCC(10;0.0054)			4	91					0	0	0.00024832	0	0
SPTBN4	57731	broad.mit.edu	37	19	41012159	41012159	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:41012159G>C	ENST00000352632.3	+	13	1768	c.1682G>C	c.(1681-1683)cGg>cCg	p.R561P	SPTBN4_ENST00000598249.1_Missense_Mutation_p.R561P|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R561P|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R561P|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R561P			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	561					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGCTGTCCCGGGAGTGTGGG	0.657000													4	89					0	0	0.00024832	0	0
VWA3A	146177	broad.mit.edu	37	16	22166930	22166930	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:22166930C>A	ENST00000389397.4	+	33	3616	c.754C>A	c.(754-756)Ctg>Atg	p.L252M	VWA3A_ENST00000563755.1_Missense_Mutation_p.L252M|VWA3A_ENST00000389398.5_Missense_Mutation_p.L1150M			A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1150						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TTTAAGGATCCTGGCCCAGGA	0.512000													8	183					9.05144e-12	1.77956e-10	0.000151284	1	0
BRWD3	254065	broad.mit.edu	37	X	79942453	79942453	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:79942453C>A	ENST00000373275.4	-	35	4130	c.3914G>T	c.(3913-3915)tGg>tTg	p.W1305L	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1305										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTGTTTTTTCCAAGCATCAGG	0.388000													5	55					8.12818e-05	0.00129777	8.12818e-05	1	0
TTN	7273	broad.mit.edu	37	2	179456117	179456117	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:179456117C>G	ENST00000589042.1	-	304	60559	c.60335G>C	c.(60334-60336)tGg>tCg	p.W20112S	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W11047S|TTN_ENST00000342992.6_Missense_Mutation_p.W17544S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W11172S|TTN_ENST00000342175.6_Missense_Mutation_p.W11239S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W18471S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18471							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)			ATCGGTTGTCCACTTTGCAGT	0.428000													4	127					0	0	3.59834e-05	0	0
PRPS1	5631	broad.mit.edu	37	X	106885595	106885595	+	Splice_Site	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:106885595G>T	ENST00000372435.4	+	4	527		c.e4-1		PRPS1_ENST00000372418.1_Splice_Site|PRPS1_ENST00000543248.1_Splice_Site|PRPS1_ENST00000372428.4_Splice_Site	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1						5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						TCTTTCTACAGGGCTTTTTTG	0.408000													7	131					0.000442599	0.00584094	0.000442599	1	0
RBM12B	389677	broad.mit.edu	37	8	94748352	94748352	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:94748352G>T	ENST00000399300.2	-	3	500	c.287C>A	c.(286-288)cCa>cAa	p.P96Q	RBM12B_ENST00000517700.1_Missense_Mutation_p.P96Q|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	96							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CCCAGATCCTGGACGCCCTCT	0.398000													8	208					0.000442599	0.00584094	0.000442599	1	0
CTNNA3	29119	broad.mit.edu	37	10	69281626	69281626	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:69281626C>T	ENST00000433211.1	-	5	727	c.553G>A	c.(553-555)Gat>Aat	p.D185N	CTNNA3_ENST00000545309.1_Missense_Mutation_p.D185N|CTNNA3_ENST00000373744.4_Missense_Mutation_p.D185N	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	185					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GCTAAATAATCCAAATTTTCC	0.458000													17	62					0	0	0.00074312	0	0
MYH3	4621	broad.mit.edu	37	17	10535807	10535807	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:10535807G>C	ENST00000583535.1	-	34	5029	c.4942C>G	c.(4942-4944)Cag>Gag	p.Q1648E	MYH3_ENST00000226209.7_Missense_Mutation_p.Q1648E	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1648					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						AGCTGTCCCTGGACACTCCTG	0.562000													5	106					0	0	0.000602214	0	0
ARRB1	408	broad.mit.edu	37	11	74988418	74988418	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:74988418G>T	ENST00000420843.2	-	9	790	c.693C>A	c.(691-693)atC>atA	p.I231I	ARRB1_ENST00000393505.4_Silent_p.I231I|ARRB1_ENST00000360025.3_Silent_p.I231I	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	231					G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	p.I231M(1)		breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						CTGAGATCTTGATCTTCTTCA	0.537000													7	156					3.07112e-06	5.5112e-05	6.40141e-05	1	0
CCDC108	255101	broad.mit.edu	37	2	219900219	219900219	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:219900219G>T	ENST00000341552.5	-	5	608	c.525C>A	c.(523-525)ctC>ctA	p.L175L	CCDC108_ENST00000324264.6_Silent_p.L110L|CCDC108_ENST00000409865.3_Silent_p.L164L|CCDC108_ENST00000453220.1_Silent_p.L175L|CCDC108_ENST00000441968.1_Silent_p.L175L|CCDC108_ENST00000295729.2_Silent_p.L110L|CCDC108_ENST00000410037.1_Silent_p.L110L	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	175						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCATCTTCTGGAGTTTCAAGG	0.488000													7	72					0.000442599	0.00584094	0.000442599	1	0
AMPD1	270	broad.mit.edu	37	1	115238105	115238105	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:115238105C>T	ENST00000369538.3	-	1	134	c.87G>A	c.(85-87)agG>agA	p.R29R	AMPD1_ENST00000520113.2_Silent_p.R29R|AMPD1_ENST00000353928.6_5'UTR	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	0					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TTGCTGAAATCCTTGATTCTA	0.378000													29	171					0	0	0.000491102	0	0
USP9X	8239	broad.mit.edu	37	X	41055568	41055568	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:41055568C>G	ENST00000324545.7	+	27	4675	c.4042C>G	c.(4042-4044)Cgg>Ggg	p.R1348G	USP9X_ENST00000378308.2_Missense_Mutation_p.R1348G	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1348					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CATGGGACACCGGCCTCTACT	0.353000													5	273					0	0	8.12818e-05	0	0
RBP2	5948	broad.mit.edu	37	3	139173612	139173612	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:139173612G>T	ENST00000232217.2	-	3	369	c.313C>A	c.(313-315)Cgc>Agc	p.R105S	RP11-319G6.1_ENST00000515247.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	105					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity			breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	TTCCAGCCGCGGTTCTCCTTC	0.522000													7	120					0.000673444	0.0084606	0.000673444	1	0
ATRX	546	broad.mit.edu	37	X	76937733	76937733	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:76937733C>G	ENST00000373344.5	-	9	3229	c.3015G>C	c.(3013-3015)atG>atC	p.M1005I	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.M967I	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1005					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ACTGTTGTTCCATTTTAATTA	0.333000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						5	250					0	0	8.12818e-05	0	0
GFOD2	81577	broad.mit.edu	37	16	67709429	67709429	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:67709429G>C	ENST00000268797.7	-	3	1132	c.787C>G	c.(787-789)Cgg>Ggg	p.R263G	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	263						proteinaceous extracellular matrix	binding|oxidoreductase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TCGGCTCCCCGGGCGACGAGG	0.627000													5	60					0	0	0.000602214	0	0
VWA7	80737	broad.mit.edu	37	6	31734132	31734132	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:31734132C>A	ENST00000375686.3	-	15	2451	c.2214G>T	c.(2212-2214)ccG>ccT	p.P738P	VWA7_ENST00000375688.4_Silent_p.P738P|VWA7_ENST00000467576.1_5'UTR	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	738						extracellular region											CTTTGCTGCCCGGGGCCAAGA	0.622000													6	202					0.000157383	0.00236471	0.000157383	1	0
FCGR1A	2209	broad.mit.edu	37	1	149759970	149759970	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:149759970C>T	ENST00000369168.4	+	4	410	c.356C>T	c.(355-357)cCt>cTt	p.P119L	HIST2H2BF_ENST00000545683.1_Intron|RP11-196G18.3_ENST00000428289.1_RNA|RP11-196G18.21_ENST00000420462.1_RNA	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	119	Ig-like C2-type 2.				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAAGGAGAACCTCTGGCCTTG	0.453000													9	101					0	0	6.40141e-05	0	0
TTN	7273	broad.mit.edu	37	2	179414406	179414406	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:179414406G>C	ENST00000589042.1	-	338	92267	c.92043C>G	c.(92041-92043)gcC>gcG	p.A30681A	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.A21616A|TTN_ENST00000342992.6_Silent_p.A28113A|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.A21741A|TTN_ENST00000342175.6_Silent_p.A21808A|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Silent_p.A29040A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29040	Ig-like 138.						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)			TTAGTTTAATGGCAGTGTAAC	0.433000													5	70					0	0	0.000602214	0	0
PSMA8	143471	broad.mit.edu	37	18	23738188	23738188	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:23738188G>T	ENST00000308268.6	+	4	564	c.475G>T	c.(475-477)Ggt>Tgt	p.G159C	PSMA8_ENST00000343848.6_Missense_Mutation_p.G115C|PSMA8_ENST00000415576.2_Missense_Mutation_p.G153C	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	159					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			AGATCCTTCTGGTACTTATCA	0.328000													10	308					6.31663e-08	1.20765e-06	0.000308642	1	0
NID1	4811	broad.mit.edu	37	1	236176842	236176842	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:236176842G>A	ENST00000264187.6	-	11	2355	c.2273C>T	c.(2272-2274)cCc>cTc	p.P758L	NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	758	EGF-like 4.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GTAGTTGATGGGGCGCTGGTC	0.542000													4	58					0	0	3.59834e-05	0	0
CHD1	1105	broad.mit.edu	37	5	98236986	98236986	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:98236986G>T	ENST00000284049.3	-	5	640	c.491C>A	c.(490-492)tCa>tAa	p.S164*		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	164					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TTCAGATTCTGAATCTGAACC	0.348000													8	215					6.40141e-05	0.00104902	6.40141e-05	1	0
EML5	161436	broad.mit.edu	37	14	89093316	89093316	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:89093316G>C	ENST00000554922.1	-	35	4854	c.4606C>G	c.(4606-4608)Cag>Gag	p.Q1536E	EML5_ENST00000352093.5_Missense_Mutation_p.Q1490E|EML5_ENST00000380664.5_Missense_Mutation_p.Q1528E	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1528						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GAGACAAACTGGGTATCTGAA	0.453000													6	147					0	0	8.12818e-05	0	0
BLOC1S2	282991	broad.mit.edu	37	10	102039909	102039909	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:102039909G>T	ENST00000441611.1	-	3	457	c.240C>A	c.(238-240)taC>taA	p.Y80*	BLOC1S2_ENST00000370372.2_Nonsense_Mutation_p.Y123*			Q6QNY1	BL1S2_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 2	123					melanosome organization|microtubule nucleation|platelet dense granule organization|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of apoptosis	BLOC-1 complex|centrosome|gamma-tubulin complex|nucleus	gamma-tubulin binding|identical protein binding|protein C-terminus binding			large_intestine(1)|lung(2)|ovary(1)	4		Colorectal(252;0.117)		Epithelial(162;2.44e-10)|all cancers(201;1.97e-08)		CATCCAACTTGTAAGCTGCCT	0.368000													6	140					0.000274275	0.0038898	0.000274275	1	0
TTC3	7267	broad.mit.edu	37	21	38529124	38529124	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:38529124C>G	ENST00000399017.2	+	28	5655	c.2908C>G	c.(2908-2910)Cgt>Ggt	p.R970G	TTC3_ENST00000355666.1_Missense_Mutation_p.R970G|TTC3_ENST00000354749.2_Missense_Mutation_p.R970G|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	970					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GAAGGAAGCCCGTTGTTTAAT	0.393000													4	134					0	0	8.12818e-05	0	0
MUC17	140453	broad.mit.edu	37	7	100677148	100677148	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:100677148G>C	ENST00000306151.4	+	3	2515	c.2451G>C	c.(2449-2451)ccG>ccC	p.P817P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	817	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCATCACACCGGTGACCAGTC	0.488000													5	333					0	0	0.000602214	0	0
ZNF667	63934	broad.mit.edu	37	19	56973710	56973710	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:56973710G>T	ENST00000591790.1	-	2	1458	c.30C>A	c.(28-30)tcC>tcA	p.S10S	ZNF667_ENST00000504904.3_Silent_p.S10S|ZNF667_ENST00000292069.6_Silent_p.S10S|ZNF667_ENST00000342634.3_Silent_p.S103S			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	10					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CACTTACCTTGGATTTGGATT	0.532000													7	139					0.000274275	0.0038898	0.000274275	1	0
HCK	3055	broad.mit.edu	37	20	30671706	30671706	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:30671706C>T	ENST00000534862.1	+	8	845	c.482C>T	c.(481-483)tCt>tTt	p.S161F	HCK_ENST00000375852.2_Missense_Mutation_p.S181F|HCK_ENST00000520553.1_Missense_Mutation_p.S160F|HCK_ENST00000538448.1_Missense_Mutation_p.S160F|HCK_ENST00000518730.1_Missense_Mutation_p.S159F|HCK_ENST00000375862.2_Missense_Mutation_p.S180F	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	181	SH2.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGAAGCTACTCTTTGTCCGTG	0.547000													20	81					0	0	0.000132079	0	0
ATP7A	538	broad.mit.edu	37	X	77298914	77298914	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:77298914G>T	ENST00000341514.6	+	21	4260	c.4105G>T	c.(4105-4107)Gga>Tga	p.G1369*	ATP7A_ENST00000343533.5_Nonsense_Mutation_p.G1291*|ATP7A_ENST00000350425.4_Nonsense_Mutation_p.G372*	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1369			G -> R (in MNKD).		ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TAATCTGGTTGGAATTCCCAT	0.363000													9	234					5.50884e-06	9.71621e-05	0.00010058	1	0
AMOT	154796	broad.mit.edu	37	X	112053139	112053139	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:112053139G>A	ENST00000371959.3	-	4	1612	c.1613C>T	c.(1612-1614)tCg>tTg	p.S538L	AMOT_ENST00000371958.1_Missense_Mutation_p.S306L|AMOT_ENST00000371962.1_Missense_Mutation_p.S306L|AMOT_ENST00000524145.1_Missense_Mutation_p.S538L|AMOT_ENST00000304758.1_Missense_Mutation_p.S129L	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	538					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						AAAGAGCTGCGAGATGGTTTT	0.458000													45	195					0	0	0.000781405	0	0
ATG3	64422	broad.mit.edu	37	3	112277231	112277231	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:112277231G>C	ENST00000402314.2	-	2	493	c.106C>G	c.(106-108)Cca>Gca	p.P36A	ATG3_ENST00000283290.5_Missense_Mutation_p.P36A|ATG3_ENST00000495756.1_5'UTR			Q9NT62	ATG3_HUMAN	autophagy related 3	36					autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination	cytoplasmic ubiquitin ligase complex|cytosol	Atg12 ligase activity|Atg8 ligase activity|enzyme binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						ACCTCTTCTGGGGTAATTACA	0.299000													6	290					0	0	0.000157383	0	0
GALNT5	11227	broad.mit.edu	37	2	158152206	158152206	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:158152206G>A	ENST00000259056.4	+	4	2258	c.1773G>A	c.(1771-1773)gtG>gtA	p.V591V		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	591	Catalytic subdomain A.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						ATTCTCATGTGGAATGTAACG	0.358000													6	201					0	0	8.12818e-05	0	0
SCML4	256380	broad.mit.edu	37	6	108042076	108042076	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:108042076G>A	ENST00000369022.2	-	5	839	c.630C>T	c.(628-630)taC>taT	p.Y210Y	SCML4_ENST00000369025.2_Silent_p.Y26Y|SCML4_ENST00000369021.3_Silent_p.Y239Y|SCML4_ENST00000479803.1_5'UTR|SCML4_ENST00000369020.3_Silent_p.Y268Y			Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GCCTCTTGCAGTACAGCGAGG	0.637000													7	51					0	0	0.000157383	0	0
SEC24A	10802	broad.mit.edu	37	5	134044443	134044443	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:134044443G>C	ENST00000398844.2	+	18	2880	c.2592G>C	c.(2590-2592)cgG>cgC	p.R864R		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	864					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTGACGCTCGGGATGCTCTAG	0.458000													4	187					0	0	3.59834e-05	0	0
CDC7	8317	broad.mit.edu	37	1	91989781	91989781	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:91989781C>A	ENST00000428239.1	+	12	1773	c.1514C>A	c.(1513-1515)cCa>cAa	p.P505Q	CDC7_ENST00000430031.2_Missense_Mutation_p.P477Q|CDC7_ENST00000234626.6_Missense_Mutation_p.P505Q	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	505	Protein kinase.				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		CAAACACCTccaggacaatac	0.398000													6	113					0.000274275	0.0038898	0.000274275	1	0
YEATS4	8089	broad.mit.edu	37	12	69764527	69764527	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:69764527C>A	ENST00000247843.2	+	5	645	c.375C>A	c.(373-375)acC>acA	p.T125T	YEATS4_ENST00000548020.1_Silent_p.T71T	NM_006530.2	NP_006521.1	O95619	YETS4_HUMAN	YEATS domain containing 4	125	YEATS.				histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth	NuA4 histone acetyltransferase complex|nuclear matrix	DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			AATCAGACACCAATGCAATGC	0.338000													7	82					0.000673444	0.0084606	0.000673444	1	0
ZBTB20	26137	broad.mit.edu	37	3	114069374	114069374	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:114069374C>G	ENST00000462705.1	-	11	2153	c.1332G>C	c.(1330-1332)gcG>gcC	p.A444A	ZBTB20_ENST00000481632.1_Silent_p.A444A|ZBTB20_ENST00000474710.1_Silent_p.A517A|ZBTB20_ENST00000357258.3_Silent_p.A444A|ZBTB20_ENST00000471418.1_Silent_p.A444A|ZBTB20_ENST00000393785.2_Silent_p.A444A|ZBTB20_ENST00000464560.1_Silent_p.A444A	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GGCCACTGCCCGCGGGCTGGG	0.622000													4	104					0	0	0.00024832	0	0
ZNF649	65251	broad.mit.edu	37	19	52394371	52394371	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:52394371G>C	ENST00000354957.3	-	5	1302	c.1018C>G	c.(1018-1020)Cac>Gac	p.H340D	ZNF649_ENST00000600738.1_Missense_Mutation_p.H312D|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TCTCCAGTGTGAGTTCGTTGA	0.453000													4	105					0	0	3.59834e-05	0	0
ACLY	47	broad.mit.edu	37	17	40070057	40070057	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:40070057C>A	ENST00000352035.2	-	2	200	c.70G>T	c.(70-72)Gcc>Tcc	p.A24S	ACLY_ENST00000537919.1_Missense_Mutation_p.A24S|ACLY_ENST00000353196.1_Missense_Mutation_p.A24S|ACLY_ENST00000393896.2_Missense_Mutation_p.A24S|ACLY_ENST00000590151.1_Missense_Mutation_p.A24S	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	24					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TTCTGGATGGCTGAGGTGGTA	0.577000													6	136					8.12818e-05	0.00129777	8.12818e-05	1	0
NLRP8	126205	broad.mit.edu	37	19	56459300	56459300	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:56459300C>T	ENST00000291971.3	+	1	103	c.32C>T	c.(31-33)cCc>cTc	p.P11L	NLRP8_ENST00000590542.1_Missense_Mutation_p.P11L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	11						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCTGACACCCCCATTCCCTTT	0.507000													17	182					0	0	9.7654e-05	0	0
ITIH1	3697	broad.mit.edu	37	3	52816188	52816188	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:52816188C>G	ENST00000273283.2	+	8	859	c.835C>G	c.(835-837)Cac>Gac	p.H279D	ITIH1_ENST00000487686.1_3'UTR|ITIH1_ENST00000542827.1_Missense_Mutation_p.H279D|ITIH1_ENST00000540715.1_Missense_Mutation_p.H137D|ITIH1_ENST00000537050.1_5'UTR	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	279					hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CCACTTTGCCCACTTCTTTGC	0.522000													4	114					0	0	3.59834e-05	0	0
TTC3	7267	broad.mit.edu	37	21	38512910	38512910	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:38512910C>G	ENST00000399017.2	+	20	4456	c.1709C>G	c.(1708-1710)cCc>cGc	p.P570R	TTC3_ENST00000540756.1_Missense_Mutation_p.P260R|TTC3_ENST00000355666.1_Missense_Mutation_p.P570R|TTC3_ENST00000354749.2_Missense_Mutation_p.P570R|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	570					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GAACACTACCCCAGTGAGGGC	0.373000													4	152					0	0	0.00024832	0	0
KCNH5	27133	broad.mit.edu	37	14	63269219	63269219	+	Silent	SNP	A	A	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:63269219A>C	ENST00000322893.7	-	9	1918	c.1650T>G	c.(1648-1650)gcT>gcG	p.A550A	KCNH5_ENST00000420622.2_Silent_p.A550A|KCNH5_ENST00000394968.1_Silent_p.A492A	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	550					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CCAATCGAAAAGCAGGATGTT	0.498000													7	59					0	0	8.12818e-05	0	0
ZNF565	147929	broad.mit.edu	37	19	36674631	36674631	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:36674631C>A	ENST00000355114.5	-	5	1083	c.357G>T	c.(355-357)ttG>ttT	p.L119F	ZNF565_ENST00000392173.2_Missense_Mutation_p.L79F|ZNF565_ENST00000304116.5_Missense_Mutation_p.L79F			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			ACCTGGACTCCAAGTCTGAAA	0.398000													7	148					8.12818e-05	0.00129777	8.12818e-05	1	0
CEP152	22995	broad.mit.edu	37	15	49048114	49048114	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:49048114G>C	ENST00000380950.2	-	20	3518	c.3331C>G	c.(3331-3333)Cca>Gca	p.P1111A	CEP152_ENST00000399334.3_Missense_Mutation_p.P1111A|CEP152_ENST00000325747.5_Missense_Mutation_p.P1018A	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1111					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTCCATTCTGGGTCAGCGTTT	0.348000													5	114					0	0	0.000274275	0	0
FER1L6	654463	broad.mit.edu	37	8	125082819	125082819	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:125082819C>G	ENST00000522917.1	+	30	4152	c.3946C>G	c.(3946-3948)Cga>Gga	p.R1316G	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.R1316G	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1316						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGATGGAGACCGAGTCATAGG	0.398000													4	109					0	0	3.59834e-05	0	0
OR7E24	26648	broad.mit.edu	37	19	9362103	9362103	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:9362103G>C	ENST00000456448.1	+	1	498	c.384G>C	c.(382-384)atG>atC	p.M128I		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	128					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						TTGCATGTATGGATGACATGC	0.502000													4	117					0	0	3.59834e-05	0	0
OR10K1	391109	broad.mit.edu	37	1	158435861	158435861	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:158435861C>T	ENST00000289451.2	+	1	590	c.510C>T	c.(508-510)tcC>tcT	p.S170S		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					CCTTCCACTCCTCCAACCAGC	0.537000													5	136					0	0	8.12818e-05	0	0
IFNA6	3443	broad.mit.edu	37	9	21350530	21350530	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:21350530C>G	ENST00000380210.1	-	1	847	c.357G>C	c.(355-357)ctG>ctC	p.L119L		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	119					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CACAGGCTTCCAGGTCATTCA	0.488000													4	100					0	0	0.00024832	0	0
ZNF254	9534	broad.mit.edu	37	19	24310185	24310185	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:24310185C>T	ENST00000357002.4	+	4	1498	c.1383C>T	c.(1381-1383)ccC>ccT	p.P461P	ZNF254_ENST00000342944.6_Silent_p.P376P	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	461					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				GAGAGAAACCCTACAAATGTG	0.393000													9	64					0	0	0.000274275	0	0
SNRPE	6635	broad.mit.edu	37	1	203834233	203834233	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:203834233C>A	ENST00000414487.2	+	4	254	c.209C>A	c.(208-210)tCa>tAa	p.S70*	SNRPE_ENST00000367208.1_Nonsense_Mutation_p.S30*|SNRPE_ENST00000483099.1_3'UTR	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E	70					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			breast(1)|large_intestine(2)|lung(1)|skin(1)	5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AAAACAAAGTCAAGAAAACAA	0.318000													8	243					0.000442599	0.00584094	0.000442599	1	0
EHBP1	23301	broad.mit.edu	37	2	63101630	63101630	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:63101630C>A	ENST00000263991.5	+	11	1735	c.1253C>A	c.(1252-1254)aCa>aAa	p.T418K	EHBP1_ENST00000431489.1_Missense_Mutation_p.T383K|EHBP1_ENST00000405015.3_Missense_Mutation_p.T383K|EHBP1_ENST00000405289.1_Missense_Mutation_p.T383K|EHBP1_ENST00000354487.3_Missense_Mutation_p.T383K	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	418						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)			AATGAAAACACAGTTTCTGCA	0.388000													6	220					0.000442599	0.00584094	0.000442599	1	0
INTS12	57117	broad.mit.edu	37	4	106603910	106603910	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:106603910G>T	ENST00000451321.2	-	7	1848	c.1369C>A	c.(1369-1371)Caa>Aaa	p.Q457K	INTS12_ENST00000394735.1_Missense_Mutation_p.Q457K|INTS12_ENST00000340139.5_Missense_Mutation_p.Q457K	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	457					snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		AGTTTCTTTTGGGCAGCTTTC	0.388000													6	165					1.06961e-07	2.02547e-06	0.000157383	1	0
DENND2A	27147	broad.mit.edu	37	7	140223203	140223203	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:140223203G>A	ENST00000275884.6	-	16	2986	c.2569C>T	c.(2569-2571)Ctg>Ttg	p.L857L	DENND2A_ENST00000496613.1_Silent_p.L857L|DENND2A_ENST00000537639.1_Silent_p.L857L			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	857										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TTCCGGGGCAGGATGGAGTCC	0.602000													12	55					0	0	0.00010058	0	0
NFATC3	4775	broad.mit.edu	37	16	68156870	68156870	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:68156870C>A	ENST00000349223.5	+	2	1308	c.1084C>A	c.(1084-1086)Caa>Aaa	p.Q362K	NFATC3_ENST00000575270.1_Missense_Mutation_p.Q362K|NFATC3_ENST00000329524.4_Missense_Mutation_p.Q362K|NFATC3_ENST00000346183.3_Missense_Mutation_p.Q362K|NFATC3_ENST00000535127.2_3'UTR	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	362					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TTCAGATGACCAAGGGAGTTT	0.423000													6	187					1.58986e-06	2.89309e-05	0.000673444	1	0
DYSF	8291	broad.mit.edu	37	2	71816794	71816794	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:71816794C>G	ENST00000258104.3	+	31	3697	c.3420C>G	c.(3418-3420)ccC>ccG	p.P1140P	DYSF_ENST00000409651.1_Silent_p.P1172P|DYSF_ENST00000410041.1_Silent_p.P1158P|DYSF_ENST00000409762.1_Silent_p.P1157P|DYSF_ENST00000413539.2_Silent_p.P1171P|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000394120.2_Silent_p.P1141P|DYSF_ENST00000429174.2_Silent_p.P1140P|DYSF_ENST00000409366.1_Silent_p.P1141P|DYSF_ENST00000410020.3_Silent_p.P1158P|DYSF_ENST00000409744.1_Silent_p.P1127P|DYSF_ENST00000409582.3_Silent_p.P1157P	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1140	C2 4.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGAACAGACCCACGATTTCCT	0.502000													4	106					0	0	3.59834e-05	0	0
ACACA	31	broad.mit.edu	37	17	35536331	35536331	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:35536331C>A	ENST00000353139.5	-	41	5430	c.4949G>T	c.(4948-4950)tGg>tTg	p.W1650L	ACACA_ENST00000360679.3_Missense_Mutation_p.W1555L|ACACA_ENST00000394406.2_Missense_Mutation_p.W1613L|ACACA_ENST00000335166.5_Missense_Mutation_p.W1535L	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1613					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CATAGACTCCCAGAGTTTGAT	0.403000													7	64					0.000673444	0.0084606	0.000673444	1	0
PRB2	653247	broad.mit.edu	37	12	11546788	11546788	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:11546788G>T	ENST00000389362.4	-	3	259	c.224C>A	c.(223-225)cCa>cAa	p.P75Q	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGCTTTCCTGGAGGAGGTGG	0.602000													7	153					7.48243e-07	1.3784e-05	0.000442599	1	0
SULT1B1	27284	broad.mit.edu	37	4	70599189	70599189	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:70599189C>G	ENST00000310613.2	-	6	836	c.539G>C	c.(538-540)tGg>tCg	p.W180S		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	180					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TTTCTTCCACCAGTTTTTAAC	0.323000													4	136					0	0	3.59834e-05	0	0
EPM2AIP1	9852	broad.mit.edu	37	3	37033458	37033458	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:37033458G>T	ENST00000322716.5	-	1	1337	c.1111C>A	c.(1111-1113)Cac>Aac	p.H371N		NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	371						endoplasmic reticulum		p.H371N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						TCTGAGAAGTGGACTGTTGTT	0.393000													16	379					0.000375601	0.00530412	0.000375601	1	0
OVOL1	5017	broad.mit.edu	37	11	65562583	65562583	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:65562583A>T	ENST00000335987.3	+	4	927	c.575A>T	c.(574-576)cAc>cTc	p.H192L	OVOL1_ENST00000532448.1_Missense_Mutation_p.H130L	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN	ovo-like zinc finger 1	192					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		CTGGAGTCTCACCTCAAGAAG	0.612000													4	42					0	0	0.00024832	0	0
FLRT2	23768	broad.mit.edu	37	14	86089475	86089475	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:86089475C>A	ENST00000330753.4	+	2	2384	c.1617C>A	c.(1615-1617)tcC>tcA	p.S539S	FLRT2_ENST00000554746.1_Silent_p.S539S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	539					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GCATGGGCTCCCCCTTTCTGC	0.577000													6	116					0.000157383	0.00236471	0.000157383	1	0
TTC9C	283237	broad.mit.edu	37	11	62496379	62496379	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:62496379G>C	ENST00000513247.2	+	2	710	c.458G>C	c.(457-459)cGg>cCg	p.R153P	TTC9C_ENST00000316461.4_Missense_Mutation_p.R20P|TTC9C_ENST00000532583.1_Missense_Mutation_p.R20P			Q8N5M4	TTC9C_HUMAN	tetratricopeptide repeat domain 9C	20							binding			breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1)	6						CAGCGCTACCGGGAAGGGAAG	0.577000													4	73					0	0	0.00024832	0	0
EEFSEC	60678	broad.mit.edu	37	3	128126924	128126924	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:128126924C>A	ENST00000254730.6	+	7	1667	c.1613C>A	c.(1612-1614)cCc>cAc	p.P538H	EEFSEC_ENST00000483457.1_Missense_Mutation_p.P431T	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	538						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GGCCTCAGCCCCGAGTCCAAG	0.697000													4	19					0.000602214	0.00792632	0.000602214	1	0
PCOLCE	5118	broad.mit.edu	37	7	100201744	100201744	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:100201744C>G	ENST00000223061.5	+	3	647	c.367C>G	c.(367-369)Ccc>Gcc	p.P123A	PCOLCE-AS1_ENST00000446022.1_RNA|PCOLCE_ENST00000496269.1_3'UTR	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	123	CUB 1.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			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)					CCTAGTCGCCCCCGGCAACCA	0.677000													4	79					0	0	3.59834e-05	0	0
ATP10A	57194	broad.mit.edu	37	15	25936880	25936880	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:25936880G>T	ENST00000356865.6	-	15	3258	c.3147C>A	c.(3145-3147)tcC>tcA	p.S1049S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1049					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CCTCCTGGCCGGAGATTCCCA	0.512000													7	229					2.0095e-06	3.63673e-05	8.12818e-05	1	0
OR7A10	390892	broad.mit.edu	37	19	14952072	14952072	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:14952072C>A	ENST00000248058.1	-	1	617	c.618G>T	c.(616-618)ctG>ctT	p.L206L		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					GACCACCGCCCAGCAGCGCTA	0.448000													6	109					0.000157383	0.00236471	0.000157383	1	0
FBXO40	51725	broad.mit.edu	37	3	121341728	121341728	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:121341728G>C	ENST00000338040.4	+	3	1866	c.1452G>C	c.(1450-1452)agG>agC	p.R484S		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	484					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AATTCTTCAGGAGGGATGAGT	0.537000													4	70					0	0	0.00024832	0	0
BCORL1	63035	broad.mit.edu	37	X	129150007	129150007	+	Missense_Mutation	SNP	G	G	C	rs144120338		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:129150007G>C	ENST00000540052.1	+	3	3303	c.3259G>C	c.(3259-3261)Ggg>Cgg	p.G1087R	BCORL1_ENST00000359304.2_Missense_Mutation_p.G1087R|BCORL1_ENST00000303743.5_Missense_Mutation_p.G1087R|BCORL1_ENST00000218147.7_Missense_Mutation_p.G1087R	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1087					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GGCTAAGGCCGGGCAGGCTCG	0.572000													4	160					0	0	0.00024832	0	0
PAPLN	89932	broad.mit.edu	37	14	73721248	73721248	+	Silent	SNP	C	C	A	rs143213374		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:73721248C>A	ENST00000427855.1	+	13	1432	c.1330C>A	c.(1330-1332)Cgg>Agg	p.R444R	PAPLN_ENST00000554301.1_Silent_p.R444R|PAPLN_ENST00000381166.3_Silent_p.R444R|PAPLN_ENST00000555445.1_Silent_p.R444R|PAPLN_ENST00000340738.5_Silent_p.R417R			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	444	TSP type-1 4.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CGTTGGCGTCCGGAAGCGGAG	0.622000													5	137					0.000274275	0.0038898	0.000274275	1	0
PCNT	5116	broad.mit.edu	37	21	47768942	47768942	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:47768942G>T	ENST00000359568.5	+	7	1156	c.1049G>T	c.(1048-1050)tGg>tTg	p.W350L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	350	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AAGGAAGATTGGGAATCTGAA	0.308000													11	306					2.31682e-05	0.000393952	0.000308642	1	0
SPOCK3	50859	broad.mit.edu	37	4	167675875	167675875	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:167675875C>T	ENST00000357154.3	-	9	861	c.724G>A	c.(724-726)Gat>Aat	p.D242N	SPOCK3_ENST00000512681.1_Missense_Mutation_p.D144N|SPOCK3_ENST00000502330.1_Missense_Mutation_p.D242N|SPOCK3_ENST00000511531.1_Missense_Mutation_p.D242N|SPOCK3_ENST00000534949.1_Missense_Mutation_p.D146N|SPOCK3_ENST00000357545.4_Missense_Mutation_p.D239N|SPOCK3_ENST00000421836.2_Missense_Mutation_p.D191N|SPOCK3_ENST00000510741.1_Missense_Mutation_p.D199N|SPOCK3_ENST00000504953.1_Missense_Mutation_p.D239N|SPOCK3_ENST00000511269.1_Missense_Mutation_p.D239N|SPOCK3_ENST00000506886.1_Missense_Mutation_p.D242N|SPOCK3_ENST00000541637.1_Missense_Mutation_p.D144N|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000535728.1_Missense_Mutation_p.D110N|SPOCK3_ENST00000541354.1_Missense_Mutation_p.D122N|SPOCK3_ENST00000512648.1_Missense_Mutation_p.D239N	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	242					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		ATGCTGGTATCGAATCCTAAA	0.388000													6	37					0	0	3.59834e-05	0	0
RCC1	1104	broad.mit.edu	37	1	28861871	28861871	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:28861871C>G	ENST00000373833.6	+	9	925	c.640C>G	c.(640-642)Cgt>Ggt	p.R214G	RCC1_ENST00000373831.3_Missense_Mutation_p.R245G|RCC1_ENST00000429051.1_3'UTR|RCC1_ENST00000373832.1_Missense_Mutation_p.R214G|RCC1_ENST00000398958.2_Missense_Mutation_p.R214G			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	214					cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		ATTTGCCAACCGTGGTGGCCG	0.597000													4	50					0	0	3.59834e-05	0	0
GUF1	60558	broad.mit.edu	37	4	44688016	44688016	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:44688016A>G	ENST00000281543.5	+	7	904	c.710A>G	c.(709-711)cAg>cGg	p.Q237R	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	237					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						AGTGTTCTTCAGGCAATTATT	0.299000													4	118					0	0	0.000602214	0	0
PTRH2	51651	broad.mit.edu	37	17	57775025	57775025	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:57775025G>T	ENST00000470557.2	-	1	3761	c.315C>A	c.(313-315)ctC>ctA	p.L105L	PTRH2_ENST00000409433.2_Silent_p.L106L|PTRH2_ENST00000393038.2_Silent_p.L105L|PTRH2_ENST00000537860.1_Silent_p.L105L			Q9Y3E5	PTH2_HUMAN	peptidyl-tRNA hydrolase 2	105					apoptosis|translation	mitochondrion	aminoacyl-tRNA hydrolase activity			large_intestine(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CCCATTGTTTGAGCATTTCAG	0.463000													8	164					0.000442599	0.00584094	0.000442599	1	0
DIAPH2	1730	broad.mit.edu	37	X	96185813	96185813	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:96185813C>G	ENST00000324765.8	+	10	1407	c.1060C>G	c.(1060-1062)Ctc>Gtc	p.L354V	DIAPH2_ENST00000373054.4_Missense_Mutation_p.L350V|DIAPH2_ENST00000355827.4_Missense_Mutation_p.L354V|DIAPH2_ENST00000373049.4_Missense_Mutation_p.L354V|DIAPH2_ENST00000373061.3_Missense_Mutation_p.L354V			O60879	DIAP2_HUMAN	diaphanous-related formin 2	354	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GAATGAATTCCTCCGTTCAGG	0.328000													4	99					0	0	0.00024832	0	0
UBA1	7317	broad.mit.edu	37	X	47073812	47073812	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:47073812C>T	ENST00000335972.6	+	24	3108	c.2925C>T	c.(2923-2925)ttC>ttT	p.F975F	UBA1_ENST00000377269.3_Silent_p.F423F|UBA1_ENST00000377351.4_Silent_p.F975F	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	975					cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCAAACAGTTCCTCGACTATT	0.532000													12	83					0	0	6.40141e-05	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187725	37187725	+	RNA	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:37187725G>C	ENST00000425901.2	+	0	1567					NR_033753.2																						CTTTGGACCTGGGACTTACCA	0.507000													4	185					0	0	3.59834e-05	0	0
APRT	353	broad.mit.edu	37	16	88876845	88876845	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:88876845G>T	ENST00000378364.3	-	3	351	c.307C>A	c.(307-309)Ctg>Atg	p.L103M	APRT_ENST00000426324.2_Missense_Mutation_p.L103M|APRT_ENST00000563655.1_Intron	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase	103					purine ribonucleoside salvage	cytosol|nucleus	adenine phosphoribosyltransferase activity|AMP binding|protein binding			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	CCGTACTCCAGGGAATAGGAG	0.662000													6	36					0.000274275	0.0038898	0.000274275	1	0
RPS23	6228	broad.mit.edu	37	5	81573552	81573552	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:81573552C>A	ENST00000296674.8	-	2	377	c.124G>T	c.(124-126)Gga>Tga	p.G42*	RPS23_ENST00000507980.1_Nonsense_Mutation_p.G42*|RPS23_ENST00000510019.1_Nonsense_Mutation_p.G42*|RPS23_ENST00000510210.1_Nonsense_Mutation_p.G42*|RPS23_ENST00000503605.1_5'UTR|RPS23_ENST00000511844.1_Nonsense_Mutation_p.G42*|RPS23_ENST00000512493.1_Nonsense_Mutation_p.G42*	NM_001025.4	NP_001016.1	P62266	RS23_HUMAN	ribosomal protein S23	42					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome			prostate(1)	1		Lung NSC(167;0.0025)|all_lung(232;0.00278)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-42)|Epithelial(54;8.38e-37)|all cancers(79;1.42e-31)		GAAGCACCTCCAAAAGGGTTG	0.443000													10	268					1.3612e-06	2.49833e-05	0.000308642	1	0
BMPER	168667	broad.mit.edu	37	7	34125413	34125413	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:34125413C>T	ENST00000297161.2	+	14	1828	c.1454C>T	c.(1453-1455)gCt>gTt	p.A485V	BMPER_ENST00000426693.1_Missense_Mutation_p.A485V	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	485	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GAAGTCATGGCTGCGCCGCAT	0.423000													5	60					0	0	8.12818e-05	0	0
IWS1	55677	broad.mit.edu	37	2	128281350	128281350	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:128281350G>C	ENST00000295321.4	-	2	311	c.52C>G	c.(52-54)Cca>Gca	p.P18A	IWS1_ENST00000455721.2_Missense_Mutation_p.P25A|IWS1_ENST00000486662.1_Intron	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	18					transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TCCTGTACTGGGGTAGCACCA	0.418000													5	136					0	0	0.000442599	0	0
RNF145	153830	broad.mit.edu	37	5	158603839	158603839	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:158603839A>G	ENST00000424310.2	-	5	781	c.422T>C	c.(421-423)aTg>aCg	p.M141T	RNF145_ENST00000274542.2_Missense_Mutation_p.M169T|RNF145_ENST00000518802.1_Missense_Mutation_p.M171T|RNF145_ENST00000520638.1_Missense_Mutation_p.M155T|RNF145_ENST00000521606.2_Missense_Mutation_p.M158T|RNF145_ENST00000519865.1_Missense_Mutation_p.M141T	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	141						integral to membrane	zinc ion binding	p.M169T(4)		endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTTGTTTTCATGACACAGGA	0.363000													7	32					0	0	0.000274275	0	0
SDF2	6388	broad.mit.edu	37	17	26976102	26976102	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:26976102G>C	ENST00000247020.4	-	3	839	c.541C>G	c.(541-543)Cag>Gag	p.Q181E	SDF2_ENST00000592250.1_5'UTR	NM_006923.3	NP_008854.2	Q99470	SDF2_HUMAN	stromal cell-derived factor 2	181	MIR 3.				protein glycosylation	extracellular space|membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Lung NSC(42;0.00431)					TGACTTGGCTGGGCCATGCCA	0.507000													4	124					0	0	8.12818e-05	0	0
TET1	80312	broad.mit.edu	37	10	70441237	70441237	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:70441237C>A	ENST00000373644.4	+	9	5115	c.4906C>A	c.(4906-4908)Caa>Aaa	p.Q1636K		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1636					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AGTAGCTTACCAAAATCAGGT	0.373000													7	46					0.000274275	0.0038898	0.000274275	1	0
ANKRD44	91526	broad.mit.edu	37	2	197870625	197870625	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:197870625C>G	ENST00000328737.2	-	21	2141	c.2065G>C	c.(2065-2067)Gga>Cga	p.G689R	ANKRD44_ENST00000450567.1_Missense_Mutation_p.G689R|ANKRD44_ENST00000337207.5_Missense_Mutation_p.G689R|ANKRD44_ENST00000282272.8_Missense_Mutation_p.G706R			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	714							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCCTCGTGTCCTGTCATAATC	0.458000													5	140					0	0	0.000157383	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54635985	54635985	+	Silent	SNP	G	G	T	rs142953160		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:54635985G>T	ENST00000230640.5	+	6	917	c.663G>T	c.(661-663)acG>acT	p.T221T	SKIV2L2_ENST00000545714.1_Silent_p.T120T	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	221	Helicase ATP-binding.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TTAATCCTACGGCATCTTGTC	0.368000													6	117					0.000442599	0.00584094	0.000442599	1	0
BAI2	576	broad.mit.edu	37	1	32205182	32205182	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:32205182G>C	ENST00000373658.3	-	15	2563	c.2222C>G	c.(2221-2223)cCc>cGc	p.P741R	BAI2_ENST00000257070.4_Missense_Mutation_p.P741R|BAI2_ENST00000398542.1_Missense_Mutation_p.P674R|BAI2_ENST00000440175.2_Missense_Mutation_p.P383R|BAI2_ENST00000398538.1_Missense_Mutation_p.P729R|BAI2_ENST00000398547.1_Missense_Mutation_p.P674R|BAI2_ENST00000527361.1_Missense_Mutation_p.P741R|BAI2_ENST00000398556.3_Missense_Mutation_p.P689R|BAI2_ENST00000373655.2_Missense_Mutation_p.P741R	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	741					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCCCCGCATGGGGAACGTGAT	0.637000													3	51					0	0	0.000602214	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40265838	40265838	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:40265838G>C	ENST00000263791.5	+	11	1749	c.1706G>C	c.(1705-1707)cGg>cCg	p.R569P	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.R569P|EIF2AK4_ENST00000559624.1_Missense_Mutation_p.R569P	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	569					translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CCTAGCAACCGGCTACCCAGT	0.418000													4	180					0	0	0.000157383	0	0
ZFP28	140612	broad.mit.edu	37	19	57061948	57061948	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:57061948G>C	ENST00000301318.3	+	7	943	c.872G>C	c.(871-873)cGa>cCa	p.R291P	ZFP28_ENST00000591844.1_Missense_Mutation_p.R291P|AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	291	KRAB 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		ATGGTGAAGCGAGAGCTGACA	0.493000													4	110					0	0	0.00024832	0	0
SLC4A7	9497	broad.mit.edu	37	3	27427478	27427478	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:27427478G>T	ENST00000295736.5	-	23	3440	c.3370C>A	c.(3370-3372)Ctg>Atg	p.L1124M	SLC4A7_ENST00000428386.1_Missense_Mutation_p.L1000M|SLC4A7_ENST00000455077.1_Missense_Mutation_p.L1005M|SLC4A7_ENST00000435667.2_Missense_Mutation_p.L1009M|SLC4A7_ENST00000388777.4_Missense_Mutation_p.L674M|SLC4A7_ENST00000454389.1_Missense_Mutation_p.L1133M|SLC4A7_ENST00000446700.1_Missense_Mutation_p.L1116M|SLC4A7_ENST00000440156.1_Missense_Mutation_p.L1120M|SLC4A7_ENST00000445684.1_Missense_Mutation_p.L1120M|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000437179.1_Missense_Mutation_p.L1005M	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1124						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						GTGAAACACAGGTCCATGAGT	0.343000													9	233					9.7654e-05	0.00155834	9.7654e-05	1	0
NAP1L4	4676	broad.mit.edu	37	11	2981037	2981037	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:2981037A>G	ENST00000380542.4	-	9	849	c.709T>C	c.(709-711)Ttt>Ctt	p.F237L	NAP1L4_ENST00000526115.1_Missense_Mutation_p.F237L	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	237					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		TCAAAGGAAAAGGGATCAGCC	0.373000													4	342					0	0	0.00024832	0	0
POTEM	641455	broad.mit.edu	37	14	20020012	20020012	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:20020012G>C	ENST00000551509.1	-	1	260	c.209C>G	c.(208-210)cCc>cGc	p.P70R		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	70										endometrium(4)|kidney(1)|lung(4)	9						CCTGCACCAGGGGAAGCAGTG	0.592000													5	396					0	0	8.12818e-05	0	0
MSTN	2660	broad.mit.edu	37	2	190926978	190926978	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:190926978C>G	ENST00000260950.4	-	1	477	c.345G>C	c.(343-345)acG>acC	p.T115T	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	115					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TGATTGTTTCCGTTGTAGCGT	0.433000													4	43					0	0	0.000602214	0	0
SYNJ1	8867	broad.mit.edu	37	21	34056396	34056396	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:34056396C>A	ENST00000382499.2	-	10	1268	c.1269G>T	c.(1267-1269)ttG>ttT	p.L423F	SYNJ1_ENST00000382491.3_Missense_Mutation_p.L384F|SYNJ1_ENST00000357345.3_Missense_Mutation_p.L384F|SYNJ1_ENST00000322229.7_Missense_Mutation_p.L384F|SYNJ1_ENST00000433931.2_Missense_Mutation_p.L423F	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	384	SAC.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CAAGACAATCCAAGCAGTTTG	0.333000													7	116					0.000442599	0.00584094	0.000442599	1	0
RAD52	5893	broad.mit.edu	37	12	1036405	1036405	+	Missense_Mutation	SNP	C	C	A	rs77010242		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:1036405C>A	ENST00000358495.3	-	6	511	c.373G>T	c.(373-375)Ggt>Tgt	p.G125C	RAD52_ENST00000545564.1_Missense_Mutation_p.G125C|RAD52_ENST00000539046.1_Missense_Mutation_p.G48C|RAD52_ENST00000536177.1_Missense_Mutation_p.G125C|RAD52_ENST00000430095.2_Missense_Mutation_p.G125C	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	125					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			ACACCATAACCAACATCTTCA	0.542000								Homologous recombination					10	226					2.31682e-05	0.000393952	0.000308642	1	0
CCT8	10694	broad.mit.edu	37	21	30434539	30434539	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:30434539G>T	ENST00000286788.4	-	11	1328	c.1122C>A	c.(1120-1122)acC>acA	p.T374T	CCT8_ENST00000540844.1_Silent_p.T301T|CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000542732.1_Silent_p.T355T	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	374					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						GAAGTACTATGGTAGAAATGG	0.353000													8	153					0.000673444	0.0084606	0.000673444	1	0
PSMG2	56984	broad.mit.edu	37	18	12706715	12706715	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:12706715C>G	ENST00000317615.6	+	2	906	c.224C>G	c.(223-225)gCt>gGt	p.A75G	PSMG2_ENST00000590217.1_Missense_Mutation_p.A75G|RP11-973H7.2_ENST00000585331.1_RNA	NM_020232.4|NM_147163.1	NP_064617.2|NP_671692.1	Q969U7	PSMG2_HUMAN	proteasome (prosome, macropain) assembly chaperone 2	75					proteasome assembly	nucleus	protein binding			lung(1)|prostate(2)|skin(1)	4						AGCATAAATGCTGAAGGTATG	0.323000													4	106					0	0	0.00024832	0	0
RP11-481J13.1	0	broad.mit.edu	37	2	56216107	56216107	+	RNA	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:56216107C>G	ENST00000606639.1	+	0	82				AC011306.2_ENST00000446139.1_lincRNA|MIR216A_ENST00000385063.1_RNA																							GGAAATTGCTCTGTTTAGCAT	0.438000													4	111					0	0	3.59834e-05	0	0
MBTPS1	8720	broad.mit.edu	37	16	84132690	84132690	+	Missense_Mutation	SNP	C	C	G	rs148577579	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:84132690C>G	ENST00000343411.3	-	3	884	c.389G>C	c.(388-390)cGa>cCa	p.R130P		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	130					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	p.R130Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AAAGACTTTTCGTTGGGGCGT	0.413000													4	134					0	0	3.59834e-05	0	0
MON2	23041	broad.mit.edu	37	12	62959024	62959024	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:62959024G>T	ENST00000393630.3	+	28	4434	c.4043G>T	c.(4042-4044)tGt>tTt	p.C1348F	MON2_ENST00000280379.6_Missense_Mutation_p.C1348F|MON2_ENST00000546600.1_Missense_Mutation_p.C1347F|MON2_ENST00000393629.2_Missense_Mutation_p.C1347F|MON2_ENST00000552738.1_Missense_Mutation_p.C1324F|MON2_ENST00000393632.2_Missense_Mutation_p.C1347F	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1348					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TAGGCCATTTGTGTAGGACCA	0.338000													6	168					0.000442599	0.00584094	0.000442599	1	0
NBEA	26960	broad.mit.edu	37	13	35716493	35716493	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:35716493C>G	ENST00000540320.1	+	18	2958	c.2424C>G	c.(2422-2424)acC>acG	p.T808T	NBEA_ENST00000310336.4_Silent_p.T808T|NBEA_ENST00000379939.2_Silent_p.T808T|NBEA_ENST00000400445.3_Silent_p.T808T			Q8NFP9	NBEA_HUMAN	neurobeachin	808						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGACTGTCACCACATACAACA	0.363000													7	164					0	0	0.00010058	0	0
MBD4	8930	broad.mit.edu	37	3	129155946	129155946	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:129155946G>C	ENST00000429544.2	-	3	736	c.541C>G	c.(541-543)Cga>Gga	p.R181G	MBD4_ENST00000507208.1_Missense_Mutation_p.R181G|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000503197.1_Missense_Mutation_p.R181G|MBD4_ENST00000249910.1_Missense_Mutation_p.R181G	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	181					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						CACTTGCTTCGGGTCCTGAGG	0.433000								Base excision repair (BER), DNA glycosylases					4	187					0	0	0.000157383	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119120905	119120905	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:119120905C>T	ENST00000264245.4	+	10	1838	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	436					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GAAGGTTTTCCGGCCTGTTGA	0.597000													5	79					0	0	8.12818e-05	0	0
LRRC39	127495	broad.mit.edu	37	1	100620637	100620637	+	Missense_Mutation	SNP	G	G	T	rs147649568		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:100620637G>T	ENST00000370138.1	-	8	980	c.782C>A	c.(781-783)cCa>cAa	p.P261Q	LRRC39_ENST00000342895.3_Missense_Mutation_p.P261Q|LRRC39_ENST00000370137.1_Missense_Mutation_p.P261Q	NM_001256385.1	NP_001243314.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	261										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		CATGCATACTGGAATATCTTG	0.373000													9	155					5.50884e-06	9.71621e-05	0.00010058	1	0
SPATA6	54558	broad.mit.edu	37	1	48865077	48865077	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:48865077C>G	ENST00000371847.3	-	7	890	c.726G>C	c.(724-726)ctG>ctC	p.L242L	SPATA6_ENST00000463938.1_5'UTR|SPATA6_ENST00000396199.3_Silent_p.L170L|SPATA6_ENST00000371843.3_Silent_p.L242L	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	242					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CATAGGGTCCCAGATTTAAAT	0.398000													4	36					0	0	0.00024832	0	0
LYST	1130	broad.mit.edu	37	1	235973814	235973814	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:235973814C>G	ENST00000389794.3	-	5	478	c.304G>C	c.(304-306)Gca>Cca	p.A102P	LYST_ENST00000536965.1_Missense_Mutation_p.A102P|LYST_ENST00000389793.2_Missense_Mutation_p.A102P			Q99698	LYST_HUMAN	lysosomal trafficking regulator	102					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATTATATCTGCTGAGAGCGGT	0.358000													4	113					0	0	0.00024832	0	0
NF1	4763	broad.mit.edu	37	17	29679308	29679308	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:29679308C>A	ENST00000358273.4	+	51	7874	c.7491C>A	c.(7489-7491)ccC>ccA	p.P2497P	NF1_ENST00000444181.2_Silent_p.P290P|NF1_ENST00000356175.3_Silent_p.P2476P|NF1_ENST00000417592.2_Intron	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2497					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGTCCTCTCCCAAAGGTTCTG	0.478000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			7	71					1.58986e-06	2.89309e-05	0.000673444	1	0
C1orf123	54987	broad.mit.edu	37	1	53682462	53682462	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:53682462G>C	ENST00000294360.4	-	6	372	c.331C>G	c.(331-333)Cag>Gag	p.Q111E	C1orf123_ENST00000470385.1_5'UTR	NM_017887.1	NP_060357.1	Q9NWV4	CA123_HUMAN	chromosome 1 open reading frame 123	111										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|pancreas(2)|skin(1)	6						ACCTGCGGCTGGAAATCAACT	0.498000													4	115					0	0	0.00024832	0	0
MEIS2	4212	broad.mit.edu	37	15	37187002	37187002	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:37187002C>A	ENST00000444725.1	-	12	2174	c.1138G>T	c.(1138-1140)Gga>Tga	p.G380*	MEIS2_ENST00000424352.2_Nonsense_Mutation_p.G387*|MEIS2_ENST00000557796.2_Nonsense_Mutation_p.G367*|MEIS2_ENST00000559085.1_Nonsense_Mutation_p.G374*|MEIS2_ENST00000219869.9_Nonsense_Mutation_p.G241*|MEIS2_ENST00000559561.1_Nonsense_Mutation_p.G380*|MEIS2_ENST00000338564.5_Intron|MEIS2_ENST00000561208.1_Intron|MEIS2_ENST00000382766.2_Intron|MEIS2_ENST00000559408.1_5'UTR|MEIS2_ENST00000397620.2_Nonsense_Mutation_p.G292*|MEIS2_ENST00000340545.5_Nonsense_Mutation_p.G367*|MEIS2_ENST00000397624.3_Nonsense_Mutation_p.G292*	NM_170674.4|NM_170677.4	NP_733774.1|NP_733777.1	O14770	MEIS2_HUMAN	Meis homeobox 2	387					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		ATGCCCATTCCACTCATAGGT	0.423000													7	180					3.86212e-05	0.000638159	0.000673444	1	0
TMEM132D	121256	broad.mit.edu	37	12	129558471	129558471	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:129558471C>G	ENST00000422113.2	-	9	3575	c.3249G>C	c.(3247-3249)ggG>ggC	p.G1083G	TMEM132D_ENST00000389441.4_Silent_p.G621G	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1083						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTTTGCAGTCCCCAGGGTCCA	0.507000													4	131					0	0	0.000157383	0	0
GTF2B	2959	broad.mit.edu	37	1	89329676	89329676	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:89329676G>T	ENST00000370500.5	-	3	364	c.246C>A	c.(244-246)acC>acA	p.T82T	GTF2B_ENST00000494819.1_5'UTR	NM_001514.5	NP_001505.1	Q00403	TF2B_HUMAN	general transcription factor IIB	82					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		TGCCAATCATGGTAGACAAAT	0.423000													6	128					0.000442599	0.00584094	0.000442599	1	0
MCM5	4174	broad.mit.edu	37	22	35804513	35804513	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:35804513C>A	ENST00000216122.4	+	6	863	c.709C>A	c.(709-711)Ccc>Acc	p.P237T	CTA-286B10.7_ENST00000417343.1_RNA|MCM5_ENST00000382011.5_Missense_Mutation_p.P194T	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	237					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						TGATGCAGTCCCCCACGGGGA	0.612000													5	39					8.12818e-05	0.00129777	8.12818e-05	1	0
DCX	1641	broad.mit.edu	37	X	110654011	110654011	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:110654011C>A	ENST00000338081.3	-	1	363	c.192G>T	c.(190-192)ccG>ccT	p.P64P	DCX_ENST00000488120.1_Intron|DCX_ENST00000356915.2_Intron|DCX_ENST00000496551.1_Intron|DCX_ENST00000356220.3_Intron|DCX_ENST00000371993.2_Intron	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	64					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						ATTGGAACTTCGGGCTAAATA	0.433000													6	177					3.09899e-07	5.78755e-06	0.000274275	1	0
IFNA17	3451	broad.mit.edu	37	9	21227774	21227774	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:21227774G>C	ENST00000413767.2	-	1	447	c.399C>G	c.(397-399)ccC>ccG	p.P133P		NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN	interferon, alpha 17	133					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CATTCATCAGGGGAGTCTCTT	0.458000													4	170					0	0	0.000157383	0	0
ZIM3	114026	broad.mit.edu	37	19	57647091	57647091	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:57647091C>G	ENST00000269834.1	-	5	999	c.614G>C	c.(613-615)gGg>gCg	p.G205A		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	205			G -> R (in dbSNP:rs35202951).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCACTTCTCCCCGAATGCTCT	0.438000													6	260					0	0	0.000157383	0	0
ROBO2	6092	broad.mit.edu	37	3	77693936	77693936	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:77693936G>A	ENST00000461745.1	+	25	4916	c.4016G>A	c.(4015-4017)gGa>gAa	p.G1339E	ROBO2_ENST00000487694.3_Missense_Mutation_p.G1355E|ROBO2_ENST00000332191.8_Missense_Mutation_p.G1400E	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1339					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCTTCTAAGGGATCCACTGGA	0.517000													6	63					0	0	3.59834e-05	0	0
SLC44A1	23446	broad.mit.edu	37	9	108123571	108123571	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:108123571G>T	ENST00000374720.3	+	8	1107	c.860G>T	c.(859-861)cGg>cTg	p.R287L	SLC44A1_ENST00000374723.1_Missense_Mutation_p.R287L|SLC44A1_ENST00000343170.7_Missense_Mutation_p.R79L|SLC44A1_ENST00000374724.1_Missense_Mutation_p.R287L	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	287						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	p.R287L(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	GACAATCTTCGGGCCCTCCTC	0.453000													7	174					0.000442599	0.00584094	0.000442599	1	0
OR5K3	403277	broad.mit.edu	37	3	98110199	98110199	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:98110199G>C	ENST00000383695.1	+	1	690	c.690G>C	c.(688-690)gaG>gaC	p.E230D	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						AATCCAAGGAGGGAAGAGGCA	0.363000													4	123					0	0	3.59834e-05	0	0
CEPT1	10390	broad.mit.edu	37	1	111724911	111724911	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:111724911G>C	ENST00000545121.1	+	6	1025	c.817G>C	c.(817-819)Ggt>Cgt	p.G273R	CEPT1_ENST00000467362.1_3'UTR|CEPT1_ENST00000357172.4_Missense_Mutation_p.G273R	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	273						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	CTTCACAGGTGGTGTTGGCAA	0.343000													4	80					0	0	0.00024832	0	0
CPNE2	221184	broad.mit.edu	37	16	57181538	57181538	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:57181538A>G	ENST00000535318.2	+	17	1976	c.1615A>G	c.(1615-1617)Aac>Gac	p.N539D	CPNE2_ENST00000565951.1_3'UTR|CPNE2_ENST00000290776.8_Missense_Mutation_p.N539D|CPNE2_ENST00000537605.1_Missense_Mutation_p.N437D|CPNE2_ENST00000565874.1_Missense_Mutation_p.N539D			Q96FN4	CPNE2_HUMAN	copine II	539										central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				CAAGCATAAAAACCTGCCCCC	0.612000													6	59					0	0	8.12818e-05	0	0
PNISR	25957	broad.mit.edu	37	6	99852494	99852494	+	Missense_Mutation	SNP	G	G	C	rs143514007		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:99852494G>C	ENST00000369239.5	-	9	1291	c.1087C>G	c.(1087-1089)Cgc>Ggc	p.R363G	PNISR_ENST00000438806.1_Missense_Mutation_p.R363G	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	363						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						GTTGCTTTGCGGTGTGCATCT	0.368000													5	71					0	0	0.000157383	0	0
SSX7	280658	broad.mit.edu	37	X	52681978	52681978	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:52681978G>A	ENST00000298181.5	-	3	284	c.126C>T	c.(124-126)tcC>tcT	p.S42S		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	42	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					TTTTCTCCAAGGATTTCATCT	0.378000													29	195					0	0	0.000692331	0	0
NRP1	8829	broad.mit.edu	37	10	33552579	33552579	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:33552579G>C	ENST00000265371.4	-	5	1178	c.653C>G	c.(652-654)cCt>cGt	p.P218R	NRP1_ENST00000395995.1_Missense_Mutation_p.P218R|NRP1_ENST00000374816.3_Missense_Mutation_p.P218R|NRP1_ENST00000374867.2_Missense_Mutation_p.P218R|NRP1_ENST00000374821.5_Missense_Mutation_p.P218R|NRP1_ENST00000374823.5_Missense_Mutation_p.P218R|NRP1_ENST00000374822.4_Missense_Mutation_p.P218R			O14786	NRP1_HUMAN	neuropilin 1	218	CUB 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CTTACCATCAGGGAATCCATC	0.453000													4	41					0	0	0.000157383	0	0
STAG2	10735	broad.mit.edu	37	X	123196817	123196817	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:123196817C>A	ENST00000371160.1	+	18	1994	c.1704C>A	c.(1702-1704)gcC>gcA	p.A568A	STAG2_ENST00000371157.3_Silent_p.A568A|STAG2_ENST00000354548.5_Silent_p.A499A|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Silent_p.A568A|STAG2_ENST00000371144.3_Silent_p.A568A|STAG2_ENST00000371145.3_Silent_p.A568A			Q8N3U4	STAG2_HUMAN	stromal antigen 2	568					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AGCTTTTTGCCGTGGCCCTTC	0.358000													6	96					0.000673444	0.0084606	0.000673444	1	0
NALCN	259232	broad.mit.edu	37	13	101890219	101890219	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:101890219C>T	ENST00000251127.6	-	12	1402	c.1321G>A	c.(1321-1323)Gga>Aga	p.G441R	NALCN_ENST00000376196.3_Missense_Mutation_p.G441R|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	441						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCAGTAAATCCCAAACACCAT	0.328000													5	134					0	0	0.000602214	0	0
OR51B6	390058	broad.mit.edu	37	11	5373043	5373043	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:5373043C>T	ENST00000380219.1	+	1	306	c.306C>T	c.(304-306)atC>atT	p.I102I	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTATTTTATCCATACTCTTT	0.483000													14	82					0	0	0.000566183	0	0
ITIH6	347365	broad.mit.edu	37	X	54783527	54783527	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:54783527G>A	ENST00000218436.6	-	8	3009	c.2980C>T	c.(2980-2982)Cct>Tct	p.P994S		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	994	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.P994S(1)									ATGGCCTCAGGGAGGATGCTA	0.542000													5	79					0	0	0.000602214	0	0
ASXL3	80816	broad.mit.edu	37	18	31324745	31324745	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:31324745G>A	ENST00000269197.5	+	12	4933	c.4933G>A	c.(4933-4935)Gaa>Aaa	p.E1645K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1645					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						TATCAAAACTGAACATGCCAA	0.438000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	76					0	0	0.00010058	0	0
C1orf51	148523	broad.mit.edu	37	1	150256877	150256877	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:150256877C>A	ENST00000290363.5	+	3	933	c.484C>A	c.(484-486)Cag>Aag	p.Q162K	C1orf51_ENST00000369095.1_Missense_Mutation_p.Q162K|C1orf51_ENST00000369094.1_Missense_Mutation_p.Q74K|C1orf51_ENST00000469255.1_3'UTR	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	162										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGACAGGATCCAGCGTATTGT	0.463000													8	177					2.27111e-07	4.26548e-06	0.00010058	1	0
MIEF1	54471	broad.mit.edu	37	22	39907868	39907868	+	Silent	SNP	G	G	T	rs144509053	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:39907868G>T	ENST00000325301.2	+	4	583	c.159G>T	c.(157-159)gcG>gcT	p.A53A	SMCR7L_ENST00000402881.1_Silent_p.A53A|SMCR7L_ENST00000404569.1_Silent_p.A53A	NM_019008.4	NP_061881.2	Q9NQG6	SMC7L_HUMAN		53						integral to membrane|mitochondrion				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16	Melanoma(58;0.04)					ACGATCGGGCGATCAGTGCCC	0.557000													13	74					2.61681e-11	5.13464e-10	0.000219431	1	0
AHNAK2	113146	broad.mit.edu	37	14	105416895	105416895	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:105416895C>G	ENST00000333244.5	-	7	5012	c.4893G>C	c.(4891-4893)ccG>ccC	p.P1631P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1631						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTTTGCTCTCGGGGCCTGGA	0.592000													4	228					0	0	0.000157383	0	0
MFSD6	54842	broad.mit.edu	37	2	191364932	191364932	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:191364932G>C	ENST00000392328.1	+	8	2688	c.2364G>C	c.(2362-2364)gcG>gcC	p.A788A	MFSD6_ENST00000535751.1_Silent_p.A250A|MFSD6_ENST00000281416.7_Silent_p.A788A	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	788					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						AGCTGGCCGCGGGAGGACACT	0.652000													4	32					0	0	3.59834e-05	0	0
KIF5B	3799	broad.mit.edu	37	10	32310028	32310028	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:32310028C>A	ENST00000302418.4	-	19	2583	c.2126G>T	c.(2125-2127)aGa>aTa	p.R709I		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	709					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				ATGAGTTTCTCTATGGCTCTG	0.333000			T	"""RET, ALK"""	NSCLC								13	237					1.5739e-10	3.0842e-09	0.000422831	1	0
ASTE1	28990	broad.mit.edu	37	3	130743198	130743198	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:130743198G>C	ENST00000264992.3	-	3	1394	c.953C>G	c.(952-954)cCa>cGa	p.P318R	ASTE1_ENST00000514044.1_Missense_Mutation_p.P318R	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	318				P -> T (in Ref. 4; AAF14876).	DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						CAAGGCATCTGGACAGACATA	0.453000													4	72					0	0	0.00024832	0	0
MUC13	56667	broad.mit.edu	37	3	124630955	124630955	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:124630955C>T	ENST00000311075.3	-	9	1283	c.1245G>A	c.(1243-1245)aaG>aaA	p.K415K		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	415						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						ACTCACTGTCCTTACAGTCGA	0.428000													5	44					0	0	0.000274275	0	0
MUC2	4583	broad.mit.edu	37	11	1093681	1093681	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:1093681G>C	ENST00000441003.2	+	30	5527	c.5500G>C	c.(5500-5502)Ggg>Cgg	p.G1834R	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Missense_Mutation_p.G122R	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1837						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGGAAGCACGGGGCCCCCCAC	0.617000													4	107					0	0	0.00024832	0	0
USP53	54532	broad.mit.edu	37	4	120166520	120166520	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:120166520G>T	ENST00000450251.1	+	2	717	c.173G>T	c.(172-174)cGa>cTa	p.R58L	USP53_ENST00000274030.6_Missense_Mutation_p.R58L			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	58					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	p.R58Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ATATTCCGACGAAGCTTGCGG	0.338000													5	136					5.18039e-06	9.2077e-05	0.000157383	1	0
AFF2	2334	broad.mit.edu	37	X	147743486	147743486	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:147743486G>A	ENST00000370460.2	+	3	717	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	AFF2_ENST00000370458.1_Missense_Mutation_p.E76K|AFF2_ENST00000370457.5_Missense_Mutation_p.E76K|AFF2_ENST00000342251.3_Missense_Mutation_p.E76K	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	80					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AAACTATGATGAAATGAAGAA	0.403000													31	234					0	0	0.000339439	0	0
ARMC2	84071	broad.mit.edu	37	6	109286189	109286189	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:109286189G>C	ENST00000392644.4	+	17	2460	c.2292G>C	c.(2290-2292)gtG>gtC	p.V764V	ARMC2_ENST00000481850.1_3'UTR|ARMC2_ENST00000368972.3_Silent_p.V599V	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	764							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TCAGGTTAGTGGACTGTTTAA	0.338000													5	280					0	0	3.59834e-05	0	0
CTSV	1515	broad.mit.edu	37	9	99797110	99797110	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:99797110G>C	ENST00000259470.5	-	7	1052	c.803C>G	c.(802-804)cCa>cGa	p.P268R	CTSV_ENST00000538255.1_Missense_Mutation_p.P268R	NM_001333.3	NP_001324.2			cathepsin V																		GCTGCAGTCTGGTTCAAAATA	0.478000													6	110					0	0	3.59834e-05	0	0
TNXB	7148	broad.mit.edu	37	6	32024611	32024611	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:32024611C>G	ENST00000375244.3	-	23	8096	c.7895G>C	c.(7894-7896)gGg>gCg	p.G2632A	TNXB_ENST00000375247.2_Missense_Mutation_p.G2632A			P22105	TENX_HUMAN	tenascin XB	2692	Fibronectin type-III 18.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGTCAGCTCCCCCAGGCGAGG	0.617000													7	357					0	0	0.000274275	0	0
KIDINS220	57498	broad.mit.edu	37	2	8872103	8872103	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:8872103G>A	ENST00000256707.3	-	30	4244	c.4063C>T	c.(4063-4065)Cgc>Tgc	p.R1355C	KIDINS220_ENST00000473731.1_Missense_Mutation_p.R1336C|KIDINS220_ENST00000427284.1_Missense_Mutation_p.R1336C|KIDINS220_ENST00000418530.1_Missense_Mutation_p.R1256C	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1355					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		p.R1355C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GGGGTTCTGCGAGTTTGTGAC	0.353000													19	146					0	0	0.000132079	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113158471	113158471	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:113158471C>A	ENST00000261965.3	-	19	2368	c.2182G>T	c.(2182-2184)Gaa>Taa	p.E728*	TUBGCP3_ENST00000375669.3_Nonsense_Mutation_p.E728*	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	728					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CAAGAACATTCAAGCACCTGG	0.463000													7	115					0.000442599	0.00584094	0.000442599	1	0
DOCK11	139818	broad.mit.edu	37	X	117762188	117762188	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:117762188C>G	ENST00000276204.6	+	34	3801	c.3727C>G	c.(3727-3729)Cca>Gca	p.P1243A	DOCK11_ENST00000276202.7_Missense_Mutation_p.P1243A			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1243					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TTCCCTCATCCCAGAAGGAGC	0.413000													4	175					0	0	0.000157383	0	0
AVEN	57099	broad.mit.edu	37	15	34158856	34158856	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:34158856G>C	ENST00000306730.3	-	6	1176	c.1047C>G	c.(1045-1047)acC>acG	p.T349T		NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN	apoptosis, caspase activation inhibitor	349					anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		GCTCTTCCTCGGTAACATTTT	0.433000													5	137					0	0	8.12818e-05	0	0
COG7	91949	broad.mit.edu	37	16	23445990	23445990	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:23445990G>C	ENST00000307149.5	-	5	839	c.654C>G	c.(652-654)ccC>ccG	p.P218P		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	218					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		CCAGGAGCTGGGGCATCCGGT	0.448000											OREG0023684	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	71					0	0	0.000157383	0	0
HK2	3099	broad.mit.edu	37	2	75117958	75117958	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:75117958C>A	ENST00000290573.2	+	18	3244	c.2644C>A	c.(2644-2646)Ctg>Atg	p.L882M	HK2_ENST00000409174.1_Missense_Mutation_p.L854M	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	882	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						AGTGAAGGACCTGGCTCCGAA	0.532000													10	258					0.000219431	0.00327883	0.000219431	1	0
NUDT21	11051	broad.mit.edu	37	16	56485106	56485106	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:56485106C>A	ENST00000300291.5	-	1	181	c.9G>T	c.(7-9)gtG>gtT	p.V3V		NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 21	3	Necessary for RNA-binding.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						TGGGCGGTACCACAGACATGC	0.647000													6	84					0.000274275	0.0038898	0.000274275	1	0
C1orf131	128061	broad.mit.edu	37	1	231362487	231362487	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:231362487G>C	ENST00000318906.2	-	5	719	c.691C>G	c.(691-693)Ctg>Gtg	p.L231V	C1orf131_ENST00000366651.3_Missense_Mutation_p.L230V|C1orf131_ENST00000366649.2_Missense_Mutation_p.L231V			Q8NDD1	CA131_HUMAN	chromosome 1 open reading frame 131	231	Lys-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				ACACCTACCAGTCTCTTTTCT	0.413000													4	229					0	0	3.59834e-05	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092595	30092595	+	RNA	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:30092595G>A	ENST00000567636.1	+	0	970					NR_003558.1																						CTGAGGACGTGGATCAAGATA	0.463000													5	70					0	0	0.000602214	0	0
RAE1	8480	broad.mit.edu	37	20	55948794	55948794	+	Splice_Site	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:55948794G>C	ENST00000395841.2	+	10	1245	c.825_splice	c.e10+1	p.A275_splice	RAE1_ENST00000371242.2_Splice_Site_p.A275_splice|RAE1_ENST00000527947.1_Splice_Site_p.A275_splice|RAE1_ENST00000395840.2_Splice_Site_p.A275_splice	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	275					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			ACATTTATGCGGTACGTTTTT	0.423000													5	228					0	0	0.000157383	0	0
PIK3CB	5291	broad.mit.edu	37	3	138376532	138376532	+	Splice_Site	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:138376532C>G	ENST00000477593.1	-	21	3015	c.2942_splice	c.e21+1	p.R981_splice	PIK3CB_ENST00000289153.2_Splice_Site_p.R981_splice|PIK3CB_ENST00000544716.1_Splice_Site_p.R432_splice			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	981	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CAGTACTCACCGGCCAAACTT	0.413000													7	216					0	0	0.000157383	0	0
COPG2	26958	broad.mit.edu	37	7	130301862	130301862	+	Splice_Site	SNP	T	T	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:130301862T>G	ENST00000445977.2	-	6	487	c.399_splice	c.e6+1	p.D133_splice				Q9UBF2	COPG2_HUMAN	coatomer protein complex, subunit gamma 2	133					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity			large_intestine(1)	1	Melanoma(18;0.0435)					ATAACTTACATCGGTGATCCT	0.403000													36	226					0	0	0.000814825	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6529397	6529397	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:6529397G>C	ENST00000377748.1	-	19	2775	c.2278C>G	c.(2278-2280)Cag>Gag	p.Q760E	PLEKHG5_ENST00000535355.1_Missense_Mutation_p.Q752E|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.Q683E|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.Q683E|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.Q762E|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.Q683E|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.Q739E|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.Q720E|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.Q683E|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.Q683E|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.Q683E|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.Q760E	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	739					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.Q760K(1)		liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GCACTCACCTGGGCATTGTAA	0.557000													4	156					0	0	0.00024832	0	0
AGAP3	116988	broad.mit.edu	37	7	150839259	150839259	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:150839259G>C	ENST00000397238.2	+	15	1969	c.1969G>C	c.(1969-1971)Ggg>Cgg	p.G657R	AGAP3_ENST00000463381.1_Missense_Mutation_p.G326R	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	621	Arf-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GACTCGACTGGGGAACCAGAA	0.627000													6	203					0	0	0.000157383	0	0
EEF1A2	1917	broad.mit.edu	37	20	62129045	62129045	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:62129045C>G	ENST00000217182.3	-	2	237	c.72G>C	c.(70-72)acG>acC	p.T24T	EEF1A2_ENST00000298049.7_Silent_p.T24T	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	24						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TGAGGTGGCCCGTGGTGGTGG	0.577000													4	166					0	0	0.000157383	0	0
FRMD3	257019	broad.mit.edu	37	9	85928663	85928663	+	Splice_Site	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:85928663C>A	ENST00000304195.3	-	7	803		c.e7-1		FRMD3_ENST00000376438.1_Splice_Site|FRMD3_ENST00000376434.1_Splice_Site	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3							cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						GCTCTGCCCCCTAAAATCACA	0.428000													7	114					0.000673444	0.0084606	0.000673444	1	0
ZBTB44	29068	broad.mit.edu	37	11	130131641	130131641	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:130131641C>G	ENST00000525842.1	-	2	495	c.128G>C	c.(127-129)cGg>cCg	p.R43P	ZBTB44_ENST00000357899.4_Missense_Mutation_p.R43P|ZBTB44_ENST00000397753.1_Missense_Mutation_p.R43P|ZBTB44_ENST00000530205.1_Missense_Mutation_p.R43P	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	43	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		CTTATGTGCCCGGAAGATTTT	0.448000													4	140					0	0	0.000157383	0	0
MYH1	4619	broad.mit.edu	37	17	10415239	10415239	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:10415239G>C	ENST00000226207.5	-	14	1427	c.1333C>G	c.(1333-1335)Cgc>Ggc	p.R445G	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	445	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGTTGATGCGGGTGACCATC	0.463000													5	135					0	0	3.59834e-05	0	0
CUL4B	8450	broad.mit.edu	37	X	119675486	119675486	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:119675486G>A	ENST00000371322.5	-	10	1475	c.1414C>T	c.(1414-1416)Ctt>Ttt	p.L472F	CUL4B_ENST00000404115.3_Missense_Mutation_p.L490F|CUL4B_ENST00000336592.6_Missense_Mutation_p.L477F	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	490					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGCTGCAAAAGAACCTGAACT	0.368000													42	251					0	0	0.000589545	0	0
DGKI	9162	broad.mit.edu	37	7	137080383	137080383	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:137080383C>T	ENST00000453654.1	-	32	2588	c.2049G>A	c.(2047-2049)ctG>ctA	p.L683L	DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000424189.2_Silent_p.L1027L|DGKI_ENST00000288490.5_Silent_p.L1014L|DGKI_ENST00000446122.1_Silent_p.L996L			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	1014					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTGCATCCACCAGAAGCTGGC	0.562000													4	63					0	0	0.000157383	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10866631	10866631	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:10866631G>C	ENST00000381661.3	+	3	242	c.133G>C	c.(133-135)Ggg>Cgg	p.G45R	ATP6V1C2_ENST00000272238.4_Missense_Mutation_p.G45R	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	45					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		TGTCTAGGTGGGGACCTTGGA	0.458000													4	77					0	0	0.000157383	0	0
OBSCN	84033	broad.mit.edu	37	1	228563785	228563785	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:228563785C>A	ENST00000570156.2	+	110	25808	c.25734C>A	c.(25732-25734)acC>acA	p.T8578T	OBSCN_ENST00000422127.1_Silent_p.T7621T|OBSCN_ENST00000366707.4_Silent_p.T5255T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7621					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGGTGGCACCTACACCTTCC	0.652000													6	97					2.17888e-05	0.00037262	0.000442599	1	0
GON4L	54856	broad.mit.edu	37	1	155726789	155726789	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:155726789T>C	ENST00000437809.1	-	27	5599	c.5477A>G	c.(5476-5478)aAc>aGc	p.N1826S	GON4L_ENST00000271883.5_Missense_Mutation_p.N1826S|GON4L_ENST00000368331.1_Missense_Mutation_p.N1826S			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1826					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTTCCTCTTGTTCTTTGAGGC	0.443000													4	99					0	0	0.00024832	0	0
CAND2	23066	broad.mit.edu	37	3	12859029	12859029	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:12859029C>T	ENST00000456430.2	+	10	2639	c.2598C>T	c.(2596-2598)ctC>ctT	p.L866L	CAND2_ENST00000295989.5_Silent_p.L773L	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	866					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGGCGGTGCTCCTGGAAGCTT	0.667000													6	62					0	0	3.59834e-05	0	0
PATL1	219988	broad.mit.edu	37	11	59420043	59420043	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:59420043C>G	ENST00000300146.9	-	11	1404	c.1320G>C	c.(1318-1320)ctG>ctC	p.L440L		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	440	Region H.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						ACAGTTTCTCCAGTTTTTCAA	0.438000													4	142					0	0	0.000157383	0	0
PANK2	80025	broad.mit.edu	37	20	3903937	3903937	+	Missense_Mutation	SNP	C	C	A	rs41279408		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:3903937C>A	ENST00000497424.1	+	7	1147	c.836C>A	c.(835-837)cCg>cAg	p.P279Q	PANK2_ENST00000336066.3_3'UTR|PANK2_ENST00000316562.4_Missense_Mutation_p.P570Q	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	570					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	p.P570Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TTGAAGATCCCGTGATCATTA	0.398000													5	135					0.000442599	0.00584094	0.000442599	1	0
BMPR2	659	broad.mit.edu	37	2	203420696	203420696	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:203420696C>G	ENST00000374580.4	+	12	2847	c.2308C>G	c.(2308-2310)Cgg>Ggg	p.R770G	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	770					anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AAAAGAGCCCCGGCTAAAATT	0.443000													4	119					0	0	0.00024832	0	0
DGKB	1607	broad.mit.edu	37	7	14724932	14724932	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:14724932G>C	ENST00000403951.2	-	10	1186	c.767C>G	c.(766-768)gCc>gGc	p.A256G	DGKB_ENST00000407950.1_Missense_Mutation_p.A249G|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.A256G|DGKB_ENST00000402815.1_Missense_Mutation_p.A256G|DGKB_ENST00000258767.5_Missense_Mutation_p.A256G|DGKB_ENST00000406247.3_Missense_Mutation_p.A256G|DGKB_ENST00000444700.2_Missense_Mutation_p.A249G			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	256					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GTTGCAATAGGCAGGTTTGTT	0.478000													4	83					0	0	3.59834e-05	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47507457	47507457	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:47507457C>G	ENST00000337137.4	+	12	1549	c.1383C>G	c.(1381-1383)ctC>ctG	p.L461L	TBC1D22A_ENST00000407381.3_Silent_p.L402L|TBC1D22A_ENST00000406733.1_Silent_p.L414L|TBC1D22A_ENST00000355704.3_Silent_p.L383L	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	461						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		CTGCTTTTCTCGTGAGATGGA	0.383000													4	124					0	0	0.00024832	0	0
SEC13	6396	broad.mit.edu	37	3	10354368	10354368	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:10354368C>G	ENST00000397117.1	-	4	760	c.169G>C	c.(169-171)Ggc>Cgc	p.G57R	SEC13_ENST00000350697.3_Missense_Mutation_p.G71R|SEC13_ENST00000383801.2_Missense_Mutation_p.G117R|SEC13_ENST00000337354.4_Missense_Mutation_p.G74R|SEC13_ENST00000397109.3_Missense_Mutation_p.G57R			P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	71					COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						AGGATGTTGCCGTACATGGGG	0.572000													4	77					0	0	8.12818e-05	0	0
ANLN	54443	broad.mit.edu	37	7	36446148	36446148	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:36446148G>T	ENST00000265748.2	+	4	1067	c.846G>T	c.(844-846)ttG>ttT	p.L282F	ANLN_ENST00000396068.2_Missense_Mutation_p.L282F	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	282	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						ATGCGTCTTTGGTTAATGCCT	0.418000													10	267					3.07112e-06	5.5112e-05	6.40141e-05	1	0
MUC16	94025	broad.mit.edu	37	19	9062025	9062025	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:9062025G>T	ENST00000397910.4	-	3	25624	c.25421C>A	c.(25420-25422)tCt>tAt	p.S8474Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8476	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CGCTTCAGTAGAGATGTCTGG	0.502000													9	129					0.000673444	0.0084606	0.000673444	1	0
KRIT1	889	broad.mit.edu	37	7	91830621	91830621	+	Splice_Site	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:91830621C>A	ENST00000394507.1	-	19	2925	c.2142_splice	c.e19+1	p.Q714_splice	KRIT1_ENST00000394505.2_Splice_Site_p.Q714_splice|AC000120.7_ENST00000414227.1_RNA|KRIT1_ENST00000340022.2_Splice_Site_p.Q714_splice|KRIT1_ENST00000394503.2_Splice_Site_p.Q666_splice|KRIT1_ENST00000412043.2_Splice_Site_p.Q714_splice	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	714	FERM.|Required for RAP1A binding.				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGATACTTACCTGTTTTGTAT	0.289000													8	208					2.80697e-09	5.44685e-08	6.40141e-05	1	0
ARHGEF12	23365	broad.mit.edu	37	11	120310837	120310837	+	Splice_Site	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:120310837G>C	ENST00000397843.2	+	13	1165		c.e13-1		ARHGEF12_ENST00000356641.3_Splice_Site|ARHGEF12_ENST00000532993.1_Splice_Site	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12						apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		AATGTTGCCAGGACACTCAAT	0.393000			T	MLL	AML								4	90					0	0	0.000602214	0	0
JADE2	23338	broad.mit.edu	37	5	133873698	133873698	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:133873698C>G	ENST00000395003.1	+	3	257	c.78C>G	c.(76-78)tcC>tcG	p.S26S	PHF15_ENST00000402835.1_Silent_p.S26S|PHF15_ENST00000282605.4_Silent_p.S26S|PHF15_ENST00000361895.2_Silent_p.S26S	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		26					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CATCTACATCCGCATCAAGAT	0.567000													4	66					0	0	3.59834e-05	0	0
DNAH5	1767	broad.mit.edu	37	5	13700897	13700897	+	Silent	SNP	A	A	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:13700897A>T	ENST00000265104.4	-	78	13679	c.13575T>A	c.(13573-13575)atT>atA	p.I4525I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4525					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAGGGGCAGAAATGTCGTCCT	0.468000									Kartagener syndrome				14	119					0	0	0.000151284	0	0
CYTL1	54360	broad.mit.edu	37	4	5018625	5018625	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:5018625C>G	ENST00000307746.4	-	3	291	c.265G>C	c.(265-267)Gta>Cta	p.V89L		NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN	cytokine-like 1	89					signal transduction	extracellular space|soluble fraction	receptor binding	p.V89L(1)		breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		AAGGAATCTACCTGGGCCACT	0.527000													4	140					0	0	0.00024832	0	0
PYGM	5837	broad.mit.edu	37	11	64520622	64520622	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:64520622G>T	ENST00000164139.3	-	12	1839	c.1441C>A	c.(1441-1443)Cag>Aag	p.Q481K	PYGM_ENST00000377432.3_Missense_Mutation_p.Q393K	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	481					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GTCTTATTCTGGAACTTATGA	0.582000													7	174					0.000673444	0.0084606	0.000673444	1	0
SLC12A3	6559	broad.mit.edu	37	16	56921879	56921879	+	Missense_Mutation	SNP	G	G	C	rs138977195	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:56921879G>C	ENST00000438926.2	+	18	2250	c.2221G>C	c.(2221-2223)Ggg>Cgg	p.G741R	SLC12A3_ENST00000563236.1_Missense_Mutation_p.G741R|SLC12A3_ENST00000566786.1_Missense_Mutation_p.G740R|SLC12A3_ENST00000262502.5_Missense_Mutation_p.G740R	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	741			G -> R (in GS).		sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCTGGTGGTTGGGTTCAAGAA	0.592000													4	73					0	0	3.59834e-05	0	0
SRSF3	6428	broad.mit.edu	37	6	36569748	36569748	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:36569748G>T	ENST00000373715.6	+	6	593	c.477G>T	c.(475-477)agG>agT	p.R159S		NM_003017.4	NP_003008.1	P84103	SRSF3_HUMAN	serine/arginine-rich splicing factor 3	159	2 X approximate repeats, basic.|Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						GTCGATCTAGGTCAAATGAAA	0.299000													8	226					0.000157383	0.00236471	0.000157383	1	0
IGHG4	3503	broad.mit.edu	37	14	106091269	106091269	+	RNA	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:106091269G>T	ENST00000390543.2	-	0	624																											ATGGAGGACGGGAGGCCTTTG	0.612000													8	279					0.000673444	0.0084606	0.000673444	1	0
CRHR2	1395	broad.mit.edu	37	7	30706899	30706899	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:30706899C>T	ENST00000471646.1	-	3	677	c.260G>A	c.(259-261)gGg>gAg	p.G87E	CRHR2_ENST00000341843.4_Missense_Mutation_p.G73E|CRHR2_ENST00000348438.4_Missense_Mutation_p.G114E|CRHR2_ENST00000506074.2_Missense_Mutation_p.G87E	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	87					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	p.G73E(1)|p.G87E(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGCCCACGTCCCATTCTCCAA	0.542000													10	75					0	0	0.000442599	0	0
BEND2	139105	broad.mit.edu	37	X	18230761	18230761	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:18230761G>C	ENST00000380033.4	-	4	548	c.416C>G	c.(415-417)cCa>cGa	p.P139R	BEND2_ENST00000380030.3_Missense_Mutation_p.P139R	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	139								p.P139Q(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TAAATGTACTGGGTGGTTTAT	0.343000													5	172					0	0	0.000157383	0	0
WHAMMP3	339005	broad.mit.edu	37	15	23205193	23205193	+	RNA	SNP	A	A	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:23205193A>G	ENST00000400153.2	-	0	661					NR_003521.1																						GGTGTCCTTGAATAACCTAGA	0.398000													4	20					0	0	0.00024832	0	0
ATP13A3	79572	broad.mit.edu	37	3	194168637	194168637	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:194168637C>A	ENST00000439040.1	-	13	2043	c.1252G>T	c.(1252-1254)Gtg>Ttg	p.V418L	ATP13A3_ENST00000256031.4_Missense_Mutation_p.V418L			Q9H7F0	AT133_HUMAN	ATPase type 13A3	418					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GCAACTGCCACAAGACATAGT	0.353000													6	277					0.000274275	0.0038898	0.000274275	1	0
PKDREJ	10343	broad.mit.edu	37	22	46657719	46657719	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:46657719C>G	ENST00000253255.5	-	1	1500	c.1501G>C	c.(1501-1503)Ggt>Cgt	p.G501R		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	501	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AGCATCTCACCACCTGAAGAA	0.373000													5	374					0	0	0.000157383	0	0
NCOA6	23054	broad.mit.edu	37	20	33345456	33345456	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:33345456C>G	ENST00000374796.2	-	8	3665	c.1095G>C	c.(1093-1095)acG>acC	p.T365T	NCOA6_ENST00000359003.2_Silent_p.T365T			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	365	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				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						GCGTCTGTACCGTGGCTAAGG	0.577000													5	130					0	0	0.000602214	0	0
EPS15	2060	broad.mit.edu	37	1	51822432	51822432	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:51822432C>G	ENST00000371733.3	-	25	2727	c.2631G>C	c.(2629-2631)caG>caC	p.Q877H	EPS15_ENST00000396122.4_Missense_Mutation_p.Q554H|EPS15_ENST00000371730.2_Missense_Mutation_p.Q743H	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	877					cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CTTCTTGTTCCTGCTGATTTA	0.418000			T	MLL	ALL								4	95					0	0	0.000602214	0	0
DIAPH1	1729	broad.mit.edu	37	5	140951530	140951530	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:140951530G>A	ENST00000253811.6	-	17	2576	c.2436C>T	c.(2434-2436)ttC>ttT	p.F812F	DIAPH1_ENST00000518047.1_Silent_p.F803F|DIAPH1_ENST00000389057.5_Silent_p.F803F|DIAPH1_ENST00000398557.4_Silent_p.F812F|DIAPH1_ENST00000520569.1_Silent_p.F758F|DIAPH1_ENST00000398562.2_Silent_p.F791F|DIAPH1_ENST00000398566.3_Silent_p.F803F|DIAPH1_ENST00000389054.3_Silent_p.F812F			O60610	DIAP1_HUMAN	diaphanous-related formin 1	812	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAGTTTGGCGAAAAGTTCAT	0.473000													31	135					0	0	0.000953801	0	0
ZER1	10444	broad.mit.edu	37	9	131513066	131513066	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:131513066C>A	ENST00000291900.2	-	8	1594	c.1188G>T	c.(1186-1188)ctG>ctT	p.L396L		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	396					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						CCGTGATGACCAGCTGTATGA	0.572000													6	97					0.000274275	0.0038898	0.000274275	1	0
TGM2	7052	broad.mit.edu	37	20	36760850	36760850	+	Silent	SNP	C	C	A	rs144810674		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:36760850C>A	ENST00000361475.2	-	11	1841	c.1668G>T	c.(1666-1668)acG>acT	p.T556T	TGM2_ENST00000536724.1_Silent_p.T496T|TGM2_ENST00000536701.1_Silent_p.T475T	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	556					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	GGTTGGACTCCGTAAGGCAGT	0.537000													9	246					1.49906e-05	0.000258586	0.000219431	1	0
PUSL1	126789	broad.mit.edu	37	1	1246312	1246312	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:1246312G>A	ENST00000379031.5	+	7	800	c.723G>A	c.(721-723)ctG>ctA	p.L241L	PUSL1_ENST00000470520.1_3'UTR	NM_153339.1	NP_699170.1	Q8N0Z8	PUSL1_HUMAN	pseudouridylate synthase-like 1	241					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			lung(3)|skin(1)|urinary_tract(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGGCTGTGCTGGTGGCCGTGG	0.657000													5	111					0	0	3.59834e-05	0	0
TNR	7143	broad.mit.edu	37	1	175375605	175375605	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:175375605C>T	ENST00000367674.1	-	3	954	c.246G>A	c.(244-246)ggG>ggA	p.G82G	TNR_ENST00000263525.2_Silent_p.G82G	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	82					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGGCCTCTAGCCCTGAGGAGC	0.552000													14	116					0	0	0.000308642	0	0
LRRFIP1	9208	broad.mit.edu	37	2	238667418	238667418	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:238667418G>T	ENST00000308482.9	+	18	1340	c.1271G>T	c.(1270-1272)cGg>cTg	p.R424L	LRRFIP1_ENST00000392000.4_Intron|LRRFIP1_ENST00000289175.6_Intron|LRRFIP1_ENST00000244815.5_Intron	NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	292					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AGGAGTGAACGGGATGATCTT	0.383000													7	180					0.000673444	0.0084606	0.000673444	1	0
GRIN3A	116443	broad.mit.edu	37	9	104499681	104499681	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:104499681G>A	ENST00000361820.3	-	1	1181	c.581C>T	c.(580-582)tCg>tTg	p.S194L		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	194					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GAGCAGCGCCGACACCCCTTG	0.592000													22	41					0	0	0.000295444	0	0
CWC22	57703	broad.mit.edu	37	2	180810168	180810168	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:180810168G>T	ENST00000410053.3	-	20	2714	c.2415C>A	c.(2413-2415)gaC>gaA	p.D805E	CWC22_ENST00000295749.6_Missense_Mutation_p.D805E	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	805						catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						GCATTTCTTGGTCTCTGTCAT	0.368000													7	278					0.000274275	0.0038898	0.000274275	1	0
RPS6KA6	27330	broad.mit.edu	37	X	83352841	83352841	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:83352841C>G	ENST00000262752.2	-	19	1799	c.1792G>C	c.(1792-1794)Gga>Cga	p.G598R	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.G598R|RPS6KA6_ENST00000495332.1_5'UTR	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	598	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GCATCATATCCCTGTTGCATA	0.313000													5	212					0	0	0.000157383	0	0
NOX5	79400	broad.mit.edu	37	15	69329427	69329427	+	Silent	SNP	G	G	T	rs139472034		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:69329427G>T	ENST00000260364.5	+	9	1495	c.1194G>T	c.(1192-1194)ggG>ggT	p.G398G	NOX5_ENST00000448182.3_Silent_p.G370G|NOX5_ENST00000455873.3_Silent_p.G381G|NOX5_ENST00000388866.3_Silent_p.G416G|NOX5_ENST00000530406.2_Silent_p.G388G			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	416	Ferric oxidoreductase.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TCTTTCATGGGCCCAACTTCT	0.567000													6	185					0.000157383	0.00236471	0.000157383	1	0
TRPM7	54822	broad.mit.edu	37	15	50868095	50868095	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:50868095G>C	ENST00000313478.7	-	32	4921	c.4640C>G	c.(4639-4641)cCa>cGa	p.P1547R	TRPM7_ENST00000560955.1_Missense_Mutation_p.P1546R|TRPM7_ENST00000561443.1_5'UTR	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1547					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		ATCCATAGCTGGCTTAAATGG	0.289000													5	154					0	0	0.000274275	0	0
RMI1	80010	broad.mit.edu	37	9	86617213	86617213	+	Silent	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:86617213T>C	ENST00000325875.3	+	3	1644	c.1312T>C	c.(1312-1314)Tta>Cta	p.L438L		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	438					DNA replication	nucleus				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TAGCCATTCCttaaataataa	0.279000													4	126					0	0	0.00024832	0	0
OR4N4	283694	broad.mit.edu	37	15	22383003	22383003	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:22383003C>T	ENST00000328795.4	+	1	622	c.531C>T	c.(529-531)ttC>ttT	p.F177F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGGACAACTTCTTCTGTGATG	0.522000													17	251					0	0	0.000132079	0	0
MSI1	4440	broad.mit.edu	37	12	120789176	120789176	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:120789176G>T	ENST00000257552.2	-	11	849	c.761C>A	c.(760-762)cCg>cAg	p.P254Q		NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	254					nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGGGCGCTCGGGAGAGGGGT	0.562000													4	15					3.59834e-05	0.000600898	3.59834e-05	1	0
B4GALNT4	338707	broad.mit.edu	37	11	373814	373814	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:373814C>G	ENST00000329962.6	+	8	769	c.769C>G	c.(769-771)Cac>Gac	p.H257D		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	257						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGGCTCGGACCACGTGGAAGT	0.652000													4	48					0	0	0.00024832	0	0
RYR2	6262	broad.mit.edu	37	1	237955612	237955612	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:237955612T>C	ENST00000366574.2	+	94	14088	c.13771T>C	c.(13771-13773)Tac>Cac	p.Y4591H	RYR2_ENST00000360064.6_Missense_Mutation_p.Y4597H|RYR2_ENST00000542537.1_Missense_Mutation_p.Y4575H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4591					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)			CATTGGATACTACTGCTTGAA	0.478000													3	53					0	0	0.000602214	0	0
NUTM1	256646	broad.mit.edu	37	15	34646877	34646877	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:34646877C>T	ENST00000537011.1	+	6	1688	c.1306C>T	c.(1306-1308)Cca>Tca	p.P436S	NUTM1_ENST00000333756.4_Missense_Mutation_p.P408S|NUTM1_ENST00000438749.3_Missense_Mutation_p.P426S					NUT midline carcinoma, family member 1																		GTATCCAGATCCAGGTCTCCT	0.532000													15	166					0	0	0.000566183	0	0
PYGO1	26108	broad.mit.edu	37	15	55838466	55838466	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:55838466G>C	ENST00000302000.6	-	3	1109	c.1015C>G	c.(1015-1017)Cca>Gca	p.P339A	PYGO1_ENST00000563719.1_Missense_Mutation_p.P339A	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	339					Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		GGATACACTGGGTCAGAAGAC	0.468000													4	177					0	0	3.59834e-05	0	0
VEGFA	7422	broad.mit.edu	37	6	43752361	43752361	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:43752361A>C	ENST00000482630.2	+	7	1112	c.1112A>C	c.(1111-1113)gAc>gCc	p.D371A	VEGFA_ENST00000230480.6_3'UTR|VEGFA_ENST00000518824.1_Missense_Mutation_p.D191A|VEGFA_ENST00000425836.2_3'UTR|VEGFA_ENST00000372067.3_3'UTR|VEGFA_ENST00000372077.4_3'UTR|VEGFA_ENST00000520948.1_3'UTR|VEGFA_ENST00000372064.4_3'UTR|VEGFA_ENST00000523950.1_3'UTR			P15692	VEGFA_HUMAN	vascular endothelial growth factor A	0					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	ACCAGGAAAGACTGATACAGA	0.532000													11	52					0	0	0.000673444	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86893290	86893290	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:86893290G>C	ENST00000395184.1	+	6	1167	c.701G>C	c.(700-702)tGt>tCt	p.C234S	ARHGAP24_ENST00000264343.4_Missense_Mutation_p.C141S|ARHGAP24_ENST00000395183.2_Missense_Mutation_p.C139S|ARHGAP24_ENST00000503995.1_Missense_Mutation_p.C234S	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	234	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		TTTTTGTCATGTGCCAAACTG	0.378000													4	123					0	0	3.59834e-05	0	0
RDH11	51109	broad.mit.edu	37	14	68157910	68157910	+	Missense_Mutation	SNP	G	G	C	rs115917815	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:68157910G>C	ENST00000381346.4	-	4	511	c.401C>G	c.(400-402)cCg>cGg	p.P134R	RDH11_ENST00000428130.2_Missense_Mutation_p.P134R|RDH11_ENST00000553384.1_Missense_Mutation_p.P121R	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	134					retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	CTTCGAGTACGGACACATCAT	0.478000													4	217					0	0	0.000157383	0	0
NAE1	8883	broad.mit.edu	37	16	66858781	66858781	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:66858781G>C	ENST00000379463.2	-	5	400	c.208C>G	c.(208-210)Ctt>Gtt	p.L70V	NAE1_ENST00000564040.2_5'UTR|NAE1_ENST00000359087.4_Missense_Mutation_p.L79V|NAE1_ENST00000394074.2_5'UTR|NAE1_ENST00000290810.3_Missense_Mutation_p.L76V	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	76					apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	CTTCTTTGAAGGAAGAAACTA	0.333000													4	123					0	0	0.000602214	0	0
SOS2	6655	broad.mit.edu	37	14	50625319	50625319	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:50625319C>A	ENST00000216373.5	-	11	2172	c.1898G>T	c.(1897-1899)tGt>tTt	p.C633F	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.C600F	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	633	N-terminal Ras-GEF.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CTGTGGTTTACAAAATGAACG	0.289000													6	187					7.48243e-07	1.3784e-05	0.000442599	1	0
SLC52A2	79581	broad.mit.edu	37	8	145584615	145584615	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:145584615G>T	ENST00000526752.1	+	2	394	c.283G>T	c.(283-285)Gac>Tac	p.D95Y	SLC52A2_ENST00000530047.1_Silent_p.P426P|SLC52A2_ENST00000540505.1_Silent_p.P338P|SLC52A2_ENST00000527078.1_Silent_p.P426P|SLC52A2_ENST00000532887.1_Silent_p.P426P|SLC52A2_ENST00000329994.2_Silent_p.P426P|SLC52A2_ENST00000402965.1_Silent_p.P426P			Q9HAB3	RFT3_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	185						integral to plasma membrane	receptor activity|riboflavin transporter activity										TGTTCCCCCCGACCAGCATCT	0.662000													5	102					7.48243e-07	1.3784e-05	0.000442599	1	0
SLC9B1	150159	broad.mit.edu	37	4	103827734	103827734	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:103827734C>A	ENST00000296422.7	-	10	1295	c.1154G>T	c.(1153-1155)gGa>gTa	p.G385V	SLC9B1_ENST00000512651.2_Intron|SLC9B1_ENST00000394789.3_Missense_Mutation_p.G385V	NM_139173.3	NP_631912.2	Q4ZJI4	NHDC1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	385						integral to membrane	solute:hydrogen antiporter activity										TACTTCTGCTCCAACTAAACC	0.254000													8	105					0.000673444	0.0084606	0.000673444	1	0
KIF11	3832	broad.mit.edu	37	10	94366042	94366042	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:94366042G>T	ENST00000260731.3	+	2	188	c.98G>T	c.(97-99)cGg>cTg	p.R33L		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	33	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTGGCAGAGCGGAAAGCTAGC	0.378000													15	311					0.000132079	0.00210093	0.000132079	1	0
ACTR6	64431	broad.mit.edu	37	12	100598741	100598741	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:100598741G>C	ENST00000188312.2	+	2	857	c.92G>C	c.(91-93)cGg>cCg	p.R31P	ACTR6_ENST00000552376.1_Missense_Mutation_p.R31P|ACTR6_ENST00000551617.1_5'UTR|ACTR6_ENST00000550813.1_3'UTR|ACTR6_ENST00000546902.1_5'UTR	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	31						cytoplasm|cytoskeleton				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						TGTCAGTTCCGGTCAAAAACA	0.348000													4	142					0	0	3.59834e-05	0	0
SMC5	23137	broad.mit.edu	37	9	72873997	72873997	+	Translation_Start_Site	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:72873997G>T	ENST00000361138.5	+	1	61	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	1					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						AAGCCAGGATGGCGACTCCGA	0.662000													4	15					3.59834e-05	0.000600898	3.59834e-05	1	0
ZNF654	55279	broad.mit.edu	37	3	88189138	88189138	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:88189138C>G	ENST00000309495.5	+	1	885	c.678C>G	c.(676-678)acC>acG	p.T226T	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TACATCCAACCGATTTAAATG	0.358000													4	54					0	0	3.59834e-05	0	0
GOLM1	51280	broad.mit.edu	37	9	88655717	88655717	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:88655717G>T	ENST00000388712.3	-	6	702	c.534C>A	c.(532-534)acC>acA	p.T178T	GOLM1_ENST00000257504.6_5'UTR|GOLM1_ENST00000388711.3_Silent_p.T178T	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	178						Golgi apparatus|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						TCCCCTTTTTGGTGACCTCTT	0.478000													7	128					8.12818e-05	0.00129777	8.12818e-05	1	0
ITGB1	3688	broad.mit.edu	37	10	33196005	33196005	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:33196005C>G	ENST00000423113.1	-	15	2397	c.2398G>C	c.(2398-2400)Ggt>Cgt	p.G800R	ITGB1_ENST00000374956.4_Intron|ITGB1_ENST00000396033.2_Intron|ITGB1_ENST00000302278.3_Intron	NM_033668.2	NP_391988.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	0					axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				ATTTAGAGACCAGCTTTACGT	0.333000													5	242					0	0	3.59834e-05	0	0
UNC13C	440279	broad.mit.edu	37	15	54306001	54306001	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:54306001G>A	ENST00000545554.1	+	1	901	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	UNC13C_ENST00000537900.1_Missense_Mutation_p.E301K|UNC13C_ENST00000260323.11_Missense_Mutation_p.E301K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	301					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)		GTCTCGGAGGGAAACTAGAGA	0.428000													21	103					0	0	0.000375601	0	0
TTC31	64427	broad.mit.edu	37	2	74720228	74720228	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:74720228C>A	ENST00000442235.2	+	8	757	c.419C>A	c.(418-420)cCa>cAa	p.P140Q	TTC31_ENST00000410003.1_3'UTR|TTC31_ENST00000233623.5_Silent_p.P481P			Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	481							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GAAGCCACCCCAACCAGCCCC	0.602000													7	127					1.76689e-08	3.40204e-07	0.000442599	1	0
AKAP1	8165	broad.mit.edu	37	17	55194237	55194237	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:55194237C>A	ENST00000337714.3	+	8	2682	c.2449C>A	c.(2449-2451)Ctg>Atg	p.L817M	AKAP1_ENST00000572557.1_Missense_Mutation_p.L817M|AKAP1_ENST00000571629.1_Missense_Mutation_p.L817M|AKAP1_ENST00000539273.1_Missense_Mutation_p.L817M	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	817	Tudor.				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CTTTGTCACCCTGCCGTTTCA	0.507000													8	189					0.000442599	0.00584094	0.000442599	1	0
STIL	6491	broad.mit.edu	37	1	47761455	47761455	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:47761455G>C	ENST00000360380.3	-	8	1130	c.767C>G	c.(766-768)tCt>tGt	p.S256C	STIL_ENST00000371877.3_Missense_Mutation_p.S256C|STIL_ENST00000337817.5_Missense_Mutation_p.S256C|STIL_ENST00000243182.6_Missense_Mutation_p.S256C|STIL_ENST00000396221.2_Missense_Mutation_p.S256C			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	256					cell proliferation|multicellular organismal development	centrosome|cytosol		p.S256Y(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CAATGGTAGAGAATAAACCTT	0.318000													4	95					0	0	0.00024832	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419701	105419701	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:105419701G>T	ENST00000333244.5	-	7	2206	c.2087C>A	c.(2086-2088)gCc>gAc	p.A696D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	696						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATCCACCGAGGCCTCCATGGA	0.592000													6	228					2.31682e-05	0.000393952	0.000308642	1	0
CPS1	1373	broad.mit.edu	37	2	211542626	211542626	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:211542626G>T	ENST00000233072.5	+	38	4616	c.4420G>T	c.(4420-4422)Gct>Tct	p.A1474S	CPS1_ENST00000430249.2_Missense_Mutation_p.A1480S|CPS1_ENST00000451903.2_Missense_Mutation_p.A1023S	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1474					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CAAACTTTTTGCTGAAGCTGT	0.428000													6	190					0.000442599	0.00584094	0.000442599	1	0
TCP10	6953	broad.mit.edu	37	6	167789547	167789547	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:167789547G>C	ENST00000366827.2	-	6	806	c.595C>G	c.(595-597)Cga>Gga	p.R199G	TCP10_ENST00000397829.4_Missense_Mutation_p.R199G			Q12799	TCP10_HUMAN	t-complex 10	226						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		TGCGGACTTCGGGAAGATGGA	0.612000													3	40					0	0	3.59834e-05	0	0
LIG1	3978	broad.mit.edu	37	19	48665551	48665551	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:48665551G>T	ENST00000263274.7	-	3	494	c.75C>A	c.(73-75)tcC>tcA	p.S25S	LIG1_ENST00000536218.1_Silent_p.S25S|LIG1_ENST00000427526.2_Intron|LIG1_ENST00000599165.1_5'UTR	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	25					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)	TGCTGCTATTGGATGCCTCCT	0.463000								Nucleotide excision repair (NER)					7	190					9.31168e-06	0.000163173	0.000151284	1	0
NOXRED1	122945	broad.mit.edu	37	14	77873143	77873143	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:77873143C>G	ENST00000380835.2	-	4	772	c.606G>C	c.(604-606)tgG>tgC	p.W202C	NOXRED1_ENST00000298358.3_Missense_Mutation_p.W202C	NM_001113475.2	NP_001106946.1	Q6NXP6	CN148_HUMAN	NADP-dependent oxidoreductase domain containing 1	202					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						TATTGGCCCCCCAGACGCTGA	0.498000													5	27					0	0	0.000602214	0	0
GDA	9615	broad.mit.edu	37	9	74817503	74817503	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:74817503G>C	ENST00000358399.3	+	3	322	c.229G>C	c.(229-231)Ggg>Cgg	p.G77R	GDA_ENST00000477618.1_3'UTR|GDA_ENST00000545168.1_Missense_Mutation_p.G3R|GDA_ENST00000376989.3_Missense_Mutation_p.G52R|GDA_ENST00000376986.1_Missense_Mutation_p.G35R|GDA_ENST00000238018.4_Missense_Mutation_p.G77R	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	77					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CTTCATGCCTGGGCTGGTTGA	0.393000													5	87					0	0	0.000157383	0	0
PADI6	353238	broad.mit.edu	37	1	17706441	17706441	+	RNA	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:17706441C>G	ENST00000434762.2	+	0	444							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGACATCTACCGCAATGGGCA	0.507000													4	78					0	0	0.000157383	0	0
ENOSF1	55556	broad.mit.edu	37	18	685978	685978	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:685978C>G	ENST00000383578.3	-	9	642	c.438G>C	c.(436-438)caG>caC	p.Q146H	ENOSF1_ENST00000580982.1_Missense_Mutation_p.Q152H|ENOSF1_ENST00000319815.6_5'UTR|ENOSF1_ENST00000251101.7_Missense_Mutation_p.Q228H|ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000340116.7_Missense_Mutation_p.Q249H	NM_001126123.3	NP_001119595.1	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	228					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						GCATGTCATCCTGGAGATCAG	0.453000													4	100					0	0	3.59834e-05	0	0
NBEAL1	65065	broad.mit.edu	37	2	203974916	203974916	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:203974916C>G	ENST00000449802.1	+	14	2239	c.1906C>G	c.(1906-1908)Cat>Gat	p.H636D		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	636							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTTTATTACCCATTCAGGTAT	0.383000													6	397					0	0	0.000157383	0	0
CSNK1G3	1456	broad.mit.edu	37	5	122924176	122924176	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:122924176C>A	ENST00000395412.1	+	8	1534	c.815C>A	c.(814-816)cCa>cAa	p.P272Q	CSNK1G3_ENST00000345990.4_Missense_Mutation_p.P272Q|CSNK1G3_ENST00000512718.3_Missense_Mutation_p.P197Q|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.P272Q|CSNK1G3_ENST00000521364.1_Missense_Mutation_p.P272Q|CSNK1G3_ENST00000511130.2_Missense_Mutation_p.P159Q|CSNK1G3_ENST00000361991.2_Missense_Mutation_p.P272Q|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.P272Q|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.P272Q	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	272	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		CGGGCTACACCAATAGAAGTG	0.289000													7	108					1.12685e-05	0.000195397	0.000274275	1	0
EXPH5	23086	broad.mit.edu	37	11	108381919	108381919	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:108381919G>T	ENST00000265843.4	-	6	4425	c.4315C>A	c.(4315-4317)Caa>Aaa	p.Q1439K	EXPH5_ENST00000428840.1_Missense_Mutation_p.Q1363K|EXPH5_ENST00000525344.1_Missense_Mutation_p.Q1432K|EXPH5_ENST00000443411.1_Missense_Mutation_p.Q1251K	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1439					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTTCTAGTTTGGGAATTTCCA	0.413000													6	110					5.18039e-06	9.2077e-05	0.000157383	1	0
SLC15A1	6564	broad.mit.edu	37	13	99340520	99340520	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:99340520G>C	ENST00000376503.5	-	20	1720	c.1665C>G	c.(1663-1665)acC>acG	p.T555T		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	555					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	GGACTATATAGGTATAAGCAC	0.348000													4	109					0	0	0.00024832	0	0
RAET1E	135250	broad.mit.edu	37	6	150209777	150209777	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:150209777G>C	ENST00000357183.4	-	4	781	c.649C>G	c.(649-651)Cac>Gac	p.H217D	RP11-244K5.8_ENST00000606915.1_RNA|RP11-244K5.1_ENST00000605899.1_RNA|RAET1E_ENST00000532335.1_Intron|RAET1E_ENST00000367363.3_Missense_Mutation_p.H181D	NM_139165.2	NP_631904.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	217					antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		GAAGACCAGTGGATATCTGAA	0.348000													4	38					0	0	0.00024832	0	0
GPR98	84059	broad.mit.edu	37	5	89931017	89931017	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:89931017G>C	ENST00000405460.2	+	10	2022	c.1926G>C	c.(1924-1926)ctG>ctC	p.L642L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	642					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTCTTTACTGGTTACTCCAG	0.378000													6	113					0	0	3.59834e-05	0	0
LDHC	3948	broad.mit.edu	37	11	18456337	18456337	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:18456337C>G	ENST00000541669.1	+	5	580	c.469C>G	c.(469-471)Cgt>Ggt	p.R157G	LDHC_ENST00000280704.4_Missense_Mutation_p.R157G|LDHC_ENST00000536880.1_Missense_Mutation_p.R143G|LDHC_ENST00000544105.1_Missense_Mutation_p.R157G|LDHC_ENST00000537486.1_Intron|LDHC_ENST00000546146.1_Missense_Mutation_p.R99G|LDHC_ENST00000535809.1_Missense_Mutation_p.R157G			P07864	LDHC_HUMAN	lactate dehydrogenase C	157					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	ACCTGTAACTCGTGTAATTGG	0.368000													4	197					0	0	3.59834e-05	0	0
ICK	22858	broad.mit.edu	37	6	52883141	52883141	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:52883141C>T	ENST00000356971.3	-	8	1139	c.650G>A	c.(649-651)gGg>gAg	p.G217E	ICK_ENST00000350082.5_Missense_Mutation_p.G217E	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	217	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TTTTGGTGTCCCCAGCACTTG	0.507000													7	253					0	0	0.000274275	0	0
TTC37	9652	broad.mit.edu	37	5	94830458	94830458	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:94830458C>G	ENST00000358746.2	-	36	4028	c.3730G>C	c.(3730-3732)Gga>Cga	p.G1244R		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1244							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						GAACTGCTTCCCATAGCCAAC	0.383000													5	203					0	0	0.000602214	0	0
FAM115A	9747	broad.mit.edu	37	7	143573425	143573425	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:143573425C>A	ENST00000479870.1	-	2	485	c.277G>T	c.(277-279)Ggt>Tgt	p.G93C	FAM115A_ENST00000392900.3_Intron|FAM115A_ENST00000355951.2_Missense_Mutation_p.G93C	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534.1	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	93										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					GGGTGTACACCAATGGGAGCC	0.582000													6	66					8.12818e-05	0.00129777	8.12818e-05	1	0
HMGB2	3148	broad.mit.edu	37	4	174253245	174253245	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:174253245C>A	ENST00000296503.5	-	5	1489	c.616G>T	c.(616-618)Gaa>Taa	p.E206*	HMGB2_ENST00000446922.2_Nonsense_Mutation_p.E206*|HMGB2_ENST00000438704.2_Nonsense_Mutation_p.E206*			P26583	HMGB2_HUMAN	high mobility group box 2	206	Asp/Glu-rich (acidic).				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		tcttcatcttcatcctcttcc	0.453000													7	166					0.000274275	0.0038898	0.000274275	1	0
PCDH9	5101	broad.mit.edu	37	13	67800011	67800011	+	Silent	SNP	G	G	T	rs145370598	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:67800011G>T	ENST00000544246.1	-	2	3253	c.2562C>A	c.(2560-2562)gcC>gcA	p.A854A	PCDH9_ENST00000328454.5_Silent_p.A854A|PCDH9_ENST00000377865.2_Silent_p.A854A|PCDH9_ENST00000456367.1_Silent_p.A854A|PCDH9_ENST00000377861.3_Silent_p.A854A	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	854					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A854A(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ACATCCATTCGGCACCTTGCT	0.473000													7	144					0.000673444	0.0084606	0.000673444	1	0
SLC7A2	6542	broad.mit.edu	37	8	17409273	17409273	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:17409273G>A	ENST00000470360.1	+	8	1070	c.952_splice	c.e8-1	p.G318_splice	SLC7A2_ENST00000004531.10_Splice_Site_p.G318_splice|SLC7A2_ENST00000494857.1_Splice_Site_p.G278_splice|SLC7A2_ENST00000398090.3_Splice_Site_p.G318_splice|SLC7A2_ENST00000522656.1_Splice_Site_p.G278_splice			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	278					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	ATTTCCTTAGGTGAAGAAGTT	0.373000													13	92					0	0	9.7654e-05	0	0
SNTG2	54221	broad.mit.edu	37	2	1133484	1133484	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:1133484C>A	ENST00000308624.5	+	6	529	c.400C>A	c.(400-402)Cat>Aat	p.H134N	SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	134	PDZ.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		AAATGCAACTCATGAAGAAGT	0.269000													8	209					0.000274275	0.0038898	0.000274275	1	0
C10orf118	55088	broad.mit.edu	37	10	115885777	115885777	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:115885777C>G	ENST00000369287.3	-	15	2747	c.2481G>C	c.(2479-2481)cgG>cgC	p.R827R	C10orf118_ENST00000543782.1_Intron	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN	chromosome 10 open reading frame 118	827										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TGATGCCACCCCGTCTACTTA	0.368000													4	90					0	0	3.59834e-05	0	0
GPRC6A	222545	broad.mit.edu	37	6	117114203	117114203	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:117114203C>T	ENST00000310357.3	-	6	1904	c.1883G>A	c.(1882-1884)gGg>gAg	p.G628E	GPRC6A_ENST00000530250.1_Missense_Mutation_p.G453E|GPRC6A_ENST00000368549.3_Missense_Mutation_p.G557E	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	628					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TCTTAATCCCCCGGATGATTT	0.413000													6	42					0	0	3.59834e-05	0	0
ZNF474	133923	broad.mit.edu	37	5	121488389	121488389	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:121488389C>T	ENST00000296600.4	+	2	1087	c.704C>T	c.(703-705)tCc>tTc	p.S235F	CTC-441N14.2_ENST00000504829.1_RNA|ZNF474_ENST00000514925.1_Intron	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	235						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		GGCACCCTGTCCCTTCCTATT	0.517000													19	142					0	0	0.000375601	0	0
PVRL2	5819	broad.mit.edu	37	19	45391407	45391407	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:45391407G>C	ENST00000252483.5	+	9	1388	c.1388G>C	c.(1387-1389)cGg>cCg	p.R463P	CTB-129P6.4_ENST00000585408.1_RNA	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	463					adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TTGGAAGAACGGTCAGGACCC	0.577000													5	266					0	0	0.000157383	0	0
OR10A2	341276	broad.mit.edu	37	11	6891192	6891192	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:6891192G>T	ENST00000307322.4	+	1	269	c.207G>T	c.(205-207)ctG>ctT	p.L69L		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L69L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCAAAATGCTGGGGACCCTGC	0.507000													16	130					7.45023e-12	1.46572e-10	0.000175454	1	0
KIF21B	23046	broad.mit.edu	37	1	200960210	200960210	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:200960210G>A	ENST00000332129.2	-	18	2838	c.2522C>T	c.(2521-2523)cCa>cTa	p.P841L	KIF21B_ENST00000422435.2_Missense_Mutation_p.P841L|KIF21B_ENST00000360529.5_Missense_Mutation_p.P841L|KIF21B_ENST00000461742.2_Missense_Mutation_p.P841L	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	841					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CAGCATGGGTGGCTTTAGTCC	0.642000													6	71					0	0	0.000442599	0	0
USP50	373509	broad.mit.edu	37	15	50833406	50833406	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:50833406C>G	ENST00000532404.1	-	4	673	c.500G>C	c.(499-501)aGg>aCg	p.R167T	USP50_ENST00000530218.1_Intron	NM_203494.4	NP_987090.2	E9PP86	E9PP86_HUMAN	ubiquitin specific peptidase 50	167					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		AATCCACTTCCTGCAGCATCT	0.403000													4	95					0	0	0.000157383	0	0
JKAMP	51528	broad.mit.edu	37	14	59954414	59954414	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:59954414C>A	ENST00000554271.1	+	3	687	c.161C>A	c.(160-162)aCg>aAg	p.T54K	JKAMP_ENST00000425728.2_Missense_Mutation_p.T34K|JKAMP_ENST00000356057.5_Missense_Mutation_p.T48K|JKAMP_ENST00000556985.1_Missense_Mutation_p.T40K|JKAMP_ENST00000557560.1_3'UTR|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000261247.9_Missense_Mutation_p.T40K			Q9P055	JKAMP_HUMAN	JNK1/MAPK8-associated membrane protein	55					ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						GGACAGAGAACGAATGCACAG	0.358000													7	265					0.000442599	0.00584094	0.000442599	1	0
MIPEP	4285	broad.mit.edu	37	13	24410417	24410417	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:24410417C>A	ENST00000382172.3	-	14	1713	c.1615G>T	c.(1615-1617)Gta>Tta	p.V539L		NM_005932.3	NP_005923.2	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	539					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		TGGTTAACTACTCGATAATCA	0.398000													7	230					0.000673444	0.0084606	0.000673444	1	0
RAPGEF6	51735	broad.mit.edu	37	5	130766552	130766552	+	Splice_Site	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:130766552C>A	ENST00000509018.1	-	26	4670	c.4465_splice	c.e26+1	p.V1489_splice	RAPGEF6_ENST00000507093.1_Splice_Site_p.E1497_splice|RAPGEF6_ENST00000296859.6_Splice_Site_p.V1497_splice|RAPGEF6_ENST00000307984.5_Splice_Site_p.E1502_splice|FNIP1_ENST00000514667.1_Splice_Site_p.V1539_splice	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1489					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CACAACTTACCAATCAAGCCC	0.428000													8	275					0.000673444	0.0084606	0.000673444	1	0
LRRC8D	55144	broad.mit.edu	37	1	90400872	90400872	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:90400872G>A	ENST00000337338.5	+	3	2652	c.2245G>A	c.(2245-2247)Gga>Aga	p.G749R	LRRC8D_ENST00000394593.3_Missense_Mutation_p.G749R	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	749						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		AATAGAAATAGGATTGCTTCA	0.373000													11	98					0	0	0.00010058	0	0
CNOT1	23019	broad.mit.edu	37	16	58573856	58573856	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:58573856C>G	ENST00000317147.5	-	35	5140	c.4808G>C	c.(4807-4809)tGg>tCg	p.W1603S	CNOT1_ENST00000569240.1_Missense_Mutation_p.W1598S|CNOT1_ENST00000245138.4_Missense_Mutation_p.W454S	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1603					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ATCTGTTGCCCAAGCTTGCTG	0.383000													4	70					0	0	3.59834e-05	0	0
MTMR1	8776	broad.mit.edu	37	X	149905727	149905727	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:149905727G>C	ENST00000445323.2	+	12	1401	c.1280G>C	c.(1279-1281)gGg>gCg	p.G427A	MTMR1_ENST00000541925.1_Missense_Mutation_p.G325A|MTMR1_ENST00000544228.1_Missense_Mutation_p.G419A|MTMR1_ENST00000538506.1_Missense_Mutation_p.G244A|MTMR1_ENST00000370390.3_Missense_Mutation_p.G419A|MTMR1_ENST00000451863.2_Missense_Mutation_p.G419A			Q13613	MTMR1_HUMAN	myotubularin related protein 1	419	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCTTGCTGGGGCAGTAAGA	0.423000													4	137					0	0	3.59834e-05	0	0
LIN9	286826	broad.mit.edu	37	1	226420839	226420839	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:226420839G>T	ENST00000328205.5	-	14	2074	c.1529C>A	c.(1528-1530)tCa>tAa	p.S510*	LIN9_ENST00000366801.1_Nonsense_Mutation_p.S459*|LIN9_ENST00000481685.1_Nonsense_Mutation_p.S475*	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 homolog (C. elegans)	494					cell cycle|DNA replication	nucleoplasm				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		ATCATTTAATGAGTCTGTAAG	0.303000													9	254					0.000219431	0.00327883	0.000219431	1	0
POP1	10940	broad.mit.edu	37	8	99162719	99162719	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:99162719C>T	ENST00000401707.2	+	14	1990	c.1909C>T	c.(1909-1911)Cga>Tga	p.R637*	POP1_ENST00000349693.3_Nonsense_Mutation_p.R637*	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	637					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			TTAGATTTATCGAGGTGTGAG	0.433000													15	108					0	0	9.7654e-05	0	0
AHRR	57491	broad.mit.edu	37	5	354006	354006	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:354006G>C	ENST00000316418.5	+	3	280	c.236G>C	c.(235-237)cGg>cCg	p.R79P	AHRR_ENST00000512529.1_Intron|AHRR_ENST00000505113.1_Missense_Mutation_p.R79P|AHRR_ENST00000515206.1_Missense_Mutation_p.R75P	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	79	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			AGTTACCTCCGGGTGAAGAGC	0.597000													5	92					0	0	8.12818e-05	0	0
ASB1	51665	broad.mit.edu	37	2	239353336	239353336	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:239353336C>T	ENST00000264607.4	+	4	1095	c.848C>T	c.(847-849)cCt>cTt	p.P283L	ASB1_ENST00000409297.1_Missense_Mutation_p.P182L	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	283					intracellular signal transduction|negative regulation of cytokine biosynthetic process					breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		AAAGTGGACCCTGAGGCCTTG	0.498000													12	77					0	0	6.40141e-05	0	0
DNAH17	8632	broad.mit.edu	37	17	76510952	76510952	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:76510952G>C	ENST00000389840.5	-	26	4129	c.4005C>G	c.(4003-4005)acC>acG	p.T1335T	DNAH17_ENST00000585328.1_Silent_p.T1336T					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGTTTTTCACGGTGTTGTCGA	0.552000													4	89					0	0	3.59834e-05	0	0
GABRB2	2561	broad.mit.edu	37	5	160886671	160886671	+	Missense_Mutation	SNP	C	C	T	rs78354289		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:160886671C>T	ENST00000274547.2	-	5	634	c.417G>A	c.(415-417)atG>atA	p.M139I	GABRB2_ENST00000353437.6_Missense_Mutation_p.M139I|GABRB2_ENST00000393959.1_Missense_Mutation_p.M139I|GABRB2_ENST00000520240.1_Missense_Mutation_p.M139I|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000517901.1_Missense_Mutation_p.M76I	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	139					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GCAGGCGAATCATGCGGTTCT	0.448000													9	50					0	0	0.00010058	0	0
HHIPL2	79802	broad.mit.edu	37	1	222721381	222721381	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:222721381C>G	ENST00000343410.6	-	1	64	c.6G>C	c.(4-6)ctG>ctC	p.L2L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	2					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TGGACGTTCTCAGCATTTTGG	0.587000													4	171					0	0	0.00024832	0	0
FAT4	79633	broad.mit.edu	37	4	126370308	126370308	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:126370308G>A	ENST00000394329.3	+	9	8150	c.8137G>A	c.(8137-8139)Gaa>Aaa	p.E2713K	FAT4_ENST00000335110.5_Missense_Mutation_p.E1011K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2713	Cadherin 26.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGGCAACATGGAAAATAGTTT	0.378000													6	94					0	0	3.59834e-05	0	0
NBEAL1	65065	broad.mit.edu	37	2	204062079	204062079	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:204062079C>T	ENST00000449802.1	+	47	7339	c.7006C>T	c.(7006-7008)Cgt>Tgt	p.R2336C		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2336							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AAATCAGTATCGTTCTTTTAT	0.363000													10	323					0	0	0.000442599	0	0
CC2D2A	57545	broad.mit.edu	37	4	15534904	15534904	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:15534904C>T	ENST00000424120.1	+	14	1809	c.1555C>T	c.(1555-1557)Ctt>Ttt	p.L519F	CC2D2A_ENST00000389652.5_Missense_Mutation_p.L470F|CC2D2A_ENST00000503292.1_Missense_Mutation_p.L519F|CC2D2A_ENST00000413206.1_Missense_Mutation_p.L519F|CC2D2A_ENST00000513811.1_3'UTR			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	519					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GATGAAATCCCTTCGAGAGTT	0.313000													10	70					0	0	0.000442599	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73072453	73072453	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:73072453G>T	ENST00000545377.1	+	6	948	c.772G>T	c.(772-774)Gag>Tag	p.E258*	ARHGEF28_ENST00000296794.6_Nonsense_Mutation_p.E258*|ARHGEF28_ENST00000426542.2_Nonsense_Mutation_p.E258*|ARHGEF28_ENST00000287898.5_Nonsense_Mutation_p.E258*|ARHGEF28_ENST00000437974.1_Nonsense_Mutation_p.E258*|ARHGEF28_ENST00000513042.2_Nonsense_Mutation_p.E258*	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28									p.E258*(2)									CCACACAGCCGAGCATTTGTT	0.463000													7	233					2.17888e-05	0.00037262	0.000442599	1	0
AACS	65985	broad.mit.edu	37	12	125591750	125591750	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:125591750C>A	ENST00000316519.6	+	8	1057	c.851C>A	c.(850-852)cCa>cAa	p.P284Q	AACS_ENST00000316543.10_5'UTR|AACS_ENST00000261686.6_Missense_Mutation_p.P284Q	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	284					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TTCAGCCACCCACTGTTCATC	0.617000													6	62					5.18039e-06	9.2077e-05	0.000157383	1	0
EDEM3	80267	broad.mit.edu	37	1	184701975	184701975	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:184701975G>T	ENST00000318130.8	-	6	874	c.608C>A	c.(607-609)cCa>cAa	p.P203Q	EDEM3_ENST00000367512.3_Missense_Mutation_p.P160Q	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	203					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACTTACTCTTGGATAAGGAAG	0.368000													7	82					7.48243e-07	1.3784e-05	0.000442599	1	0
CRY1	1407	broad.mit.edu	37	12	107398999	107398999	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:107398999C>A	ENST00000008527.5	-	3	1162	c.295G>T	c.(295-297)Gag>Tag	p.E99*		NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	99	DNA photolyase.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						GAATCATACTCAATTGAAAGT	0.338000													7	139					6.40141e-05	0.00104902	6.40141e-05	1	0
PDK3	5165	broad.mit.edu	37	X	24549803	24549803	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:24549803C>A	ENST00000441463.2	+	10	993	c.993C>A	c.(991-993)tcC>tcA	p.S331S	PDK3_ENST00000379162.4_Silent_p.S331S	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	331	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGCCAATTTCCCGTCTGTATG	0.363000													7	174					0.000442599	0.00584094	0.000442599	1	0
MYOZ1	58529	broad.mit.edu	37	10	75397672	75397672	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:75397672C>G	ENST00000359322.4	-	3	446	c.82G>C	c.(82-84)Gag>Cag	p.E28Q		NM_021245.3	NP_067068.1	Q9NP98	MYOZ1_HUMAN	myozenin 1	28					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					CCTGAGCTCTCCTGTCCACCT	0.498000													4	123					0	0	3.59834e-05	0	0
RABGAP1	23637	broad.mit.edu	37	9	125758328	125758328	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:125758328C>A	ENST00000373647.4	+	7	1066	c.932C>A	c.(931-933)cCc>cAc	p.P311H		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	311					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AGTGCAGTTCCCAAAGATAAG	0.343000													7	138					0.000274275	0.0038898	0.000274275	1	0
NKRF	55922	broad.mit.edu	37	X	118724538	118724538	+	Silent	SNP	G	G	T	rs142006983	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:118724538G>T	ENST00000371527.1	-	2	1502	c.850C>A	c.(850-852)Cgg>Agg	p.R284R	NKRF_ENST00000542113.1_Silent_p.R299R|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Silent_p.R284R	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	284	Active repression domain.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						AATTTCCGCCGGACAACTCTA	0.478000													6	209					8.12818e-05	0.00129777	8.12818e-05	1	0
ZNF112	7665	broad.mit.edu	37	19	44832110	44832110	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:44832110G>T	ENST00000354340.4	-	4	2251	c.2200C>A	c.(2200-2202)Cag>Aag	p.Q734K	ZNF112_ENST00000536500.1_Missense_Mutation_p.Q757K|ZNF112_ENST00000337401.4_Missense_Mutation_p.Q740K	NM_013380.3	NP_037512.3			zinc finger protein 112																		TGGACTCTCTGATGACCTTGA	0.463000													7	141					0.000442599	0.00584094	0.000442599	1	0
TYW1	55253	broad.mit.edu	37	7	66463876	66463876	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:66463876C>A	ENST00000359626.5	+	3	372	c.208C>A	c.(208-210)Caa>Aaa	p.Q70K		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	70					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				TGTCTCCCTTCAAGAGAAAGA	0.368000													7	131					0.000274275	0.0038898	0.000274275	1	0
EIF2AK3	9451	broad.mit.edu	37	2	88857446	88857446	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:88857446C>G	ENST00000303236.3	-	17	3460	c.3159G>C	c.(3157-3159)atG>atC	p.M1053I	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.M902I|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	1053	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						TGTCTTGAACCATCACGTACT	0.373000													6	235					0	0	3.59834e-05	0	0
AHNAK	79026	broad.mit.edu	37	11	62295157	62295157	+	Silent	SNP	A	A	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:62295157A>G	ENST00000378024.4	-	5	7006	c.6732T>C	c.(6730-6732)ccT>ccC	p.P2244P	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2244					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTTCATCTTAGGCATCTTCA	0.517000													6	253					0	0	0.000274275	0	0
PLA2G7	7941	broad.mit.edu	37	6	46682199	46682199	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:46682199G>T	ENST00000274793.7	-	5	664	c.468C>A	c.(466-468)ttC>ttA	p.F156L	PLA2G7_ENST00000538237.1_Missense_Mutation_p.F111L|PLA2G7_ENST00000537365.1_Missense_Mutation_p.F156L|PLA2G7_ENST00000541026.1_Missense_Mutation_p.F29L	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	156					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			AACATTACCTGAATGCCCCAA	0.398000													9	190					0.000151284	0.00236471	0.000151284	1	0
FCHSD2	9873	broad.mit.edu	37	11	72598571	72598571	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:72598571G>C	ENST00000409314.1	-	13	1330	c.1162C>G	c.(1162-1164)Cga>Gga	p.R388G	FCHSD2_ENST00000409853.1_Missense_Mutation_p.R308G|FCHSD2_ENST00000311172.7_Missense_Mutation_p.R308G|FCHSD2_ENST00000409418.4_Missense_Mutation_p.R364G|FCHSD2_ENST00000458644.2_Missense_Mutation_p.R228G			O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	364							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			AGCTCTGCTCGGCTTTGTTCT	0.388000													10	501					0	0	0.000151284	0	0
MET	4233	broad.mit.edu	37	7	116422086	116422086	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:116422086C>A	ENST00000397752.3	+	18	3767	c.3567C>A	c.(3565-3567)gcC>gcA	p.A1189A	MET_ENST00000318493.6_Silent_p.A1207A|MET_ENST00000539704.1_Silent_p.A59A	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1189	Protein kinase.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTCAAGTAGCCAAAGGCATGA	0.368000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				8	116					3.86212e-05	0.000638159	0.000673444	1	0
LIPK	643414	broad.mit.edu	37	10	90492261	90492261	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:90492261C>A	ENST00000404190.1	+	5	622	c.622C>A	c.(622-624)Caa>Aaa	p.Q208K		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	208					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		TAAATACACCCAAAGTCCTAT	0.353000													11	253					0.000308642	0.00436061	0.000308642	1	0
RPTN	126638	broad.mit.edu	37	1	152128182	152128182	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:152128182G>T	ENST00000316073.3	-	3	1457	c.1393C>A	c.(1393-1395)Cag>Aag	p.Q465K		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	465	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGTCTGTCTGACCATAGTGG	0.507000													8	258					0.000442599	0.00584094	0.000442599	1	0
DNAH17	8632	broad.mit.edu	37	17	76455164	76455164	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:76455164G>T	ENST00000389840.5	-	61	9862	c.9738C>A	c.(9736-9738)ccC>ccA	p.P3246P	DNAH17_ENST00000585328.1_Silent_p.P3255P|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCTGCCTCTTGGGCGCCACGT	0.617000													6	107					0.000157383	0.00236471	0.000157383	1	0
CLPTM1	1209	broad.mit.edu	37	19	45495627	45495627	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:45495627C>G	ENST00000541297.2	+	13	2115	c.1650C>G	c.(1648-1650)ccC>ccG	p.P550P	CLPTM1_ENST00000546079.1_Silent_p.P462P|CLPTM1_ENST00000337392.5_Silent_p.P564P			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	564					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		p.P564P(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TCAAGATGCCCGTTATGTACC	0.622000													5	322					0	0	8.12818e-05	0	0
OR52K1	390036	broad.mit.edu	37	11	4511013	4511013	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:4511013G>C	ENST00000307632.3	+	1	905	c.883G>C	c.(883-885)Gga>Cga	p.G295R		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		TATCATATATGGAGTCAAGAC	0.448000													4	116					0	0	8.12818e-05	0	0
EXOC7	23265	broad.mit.edu	37	17	74090658	74090658	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:74090658G>A	ENST00000607838.1	-	6	739	c.645C>T	c.(643-645)ttC>ttT	p.F215F	EXOC7_ENST00000405575.4_Silent_p.F215F|EXOC7_ENST00000332065.5_Silent_p.F215F|EXOC7_ENST00000335146.7_Silent_p.F215F|EXOC7_ENST00000411744.2_Silent_p.F215F|EXOC7_ENST00000467929.2_Silent_p.F174F|EXOC7_ENST00000589210.1_Silent_p.F215F	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	215					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			AGACGTTCATGAAATCTGAGG	0.532000													9	84					0	0	0.000673444	0	0
KIF1B	23095	broad.mit.edu	37	1	10434499	10434499	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:10434499C>G	ENST00000377086.1	+	46	5274	c.5072C>G	c.(5071-5073)cCa>cGa	p.P1691R	KIF1B_ENST00000377081.1_Missense_Mutation_p.P1691R|KIF1B_ENST00000263934.6_Missense_Mutation_p.P1645R			O60333	KIF1B_HUMAN	kinesin family member 1B	1691					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)		AATCTTGTTCCAGATATTGAA	0.428000													5	167					0	0	3.59834e-05	0	0
RBMX2	51634	broad.mit.edu	37	X	129543263	129543263	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:129543263G>A	ENST00000305536.6	+	4	270	c.206G>A	c.(205-207)cGg>cAg	p.R69Q	RBMX2_ENST00000469953.1_3'UTR	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	69	RRM.						nucleotide binding|RNA binding			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						AATCTCGTGCGGGACAAGAAA	0.378000													7	129					0	0	8.12818e-05	0	0
MYOM1	8736	broad.mit.edu	37	18	3067415	3067415	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:3067415C>T	ENST00000400569.3	-	38	5236	c.4903G>A	c.(4903-4905)Ggc>Agc	p.G1635S	MYOM1_ENST00000356443.4_Missense_Mutation_p.G1635S|MYOM1_ENST00000261606.7_Missense_Mutation_p.G1539S			P52179	MYOM1_HUMAN	myomesin 1	1635	Ig-like C2-type 5.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GTGCTCACGCCGTTGATGGTG	0.587000													11	64					0	0	0.00010058	0	0
PPP1R12A	4659	broad.mit.edu	37	12	80266607	80266607	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:80266607C>A	ENST00000450142.2	-	2	615	c.349G>T	c.(349-351)Gga>Tga	p.G117*	PPP1R12A_ENST00000546369.1_Nonsense_Mutation_p.G30*|PPP1R12A_ENST00000261207.5_Nonsense_Mutation_p.G117*|PPP1R12A_ENST00000437004.2_Nonsense_Mutation_p.G117*|PPP1R12A_ENST00000550107.1_Nonsense_Mutation_p.G117*	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	117						contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						TCAAGATATCCACAGGAAGCT	0.348000													7	98					6.40141e-05	0.00104902	6.40141e-05	1	0
GPATCH2	55105	broad.mit.edu	37	1	217793656	217793656	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:217793656G>C	ENST00000366935.3	-	2	352	c.242C>G	c.(241-243)cCg>cGg	p.P81R	GPATCH2_ENST00000366934.3_Missense_Mutation_p.P81R	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	81						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		AGTCTCCCACGGGTGATGCAC	0.438000													4	113					0	0	3.59834e-05	0	0
SLC18B1	116843	broad.mit.edu	37	6	133095407	133095407	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:133095407C>A	ENST00000275227.4	-	9	1039	c.943G>T	c.(943-945)Ggg>Tgg	p.G315W	SLC18B1_ENST00000538764.1_Missense_Mutation_p.G189W|SLC18B1_ENST00000367918.1_3'UTR	NM_052831.2	NP_439896.1	Q6NT16	CF192_HUMAN	solute carrier family 18, subfamily B, member 1	315					transmembrane transport	integral to membrane											ATGTAGCACCCGGCTGTGATT	0.398000													7	177					0.000157383	0.00236471	0.000157383	1	0
KRT12	3859	broad.mit.edu	37	17	39021187	39021187	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:39021187C>G	ENST00000251643.4	-	3	701	c.678G>C	c.(676-678)caG>caC	p.Q226H		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	226	Coil 1B.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				CCTCTACGCCCTGGCGCAGGG	0.567000													4	71					0	0	3.59834e-05	0	0
LRRC37BP1	147172	broad.mit.edu	37	17	28961033	28961033	+	RNA	SNP	T	T	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:28961033T>G	ENST00000417404.1	+	0	1291				SMURF2P1_ENST00000578265.1_RNA|LRRC37BP1_ENST00000412831.1_RNA																							AGTTCCAGGATATGACTATAA	0.264000													6	206					0	0	0.000274275	0	0
BAZ2A	11176	broad.mit.edu	37	12	56993617	56993617	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:56993617G>C	ENST00000179765.5	-	27	5150	c.4951C>G	c.(4951-4953)Cgg>Ggg	p.R1651G	BAZ2A_ENST00000549884.1_Missense_Mutation_p.R1681G|BAZ2A_ENST00000551812.1_Missense_Mutation_p.R1683G|BAZ2A_ENST00000379441.3_Missense_Mutation_p.R1653G			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1683					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TCACCCTTCCGGCAGACTAGA	0.582000													4	59					0	0	0.000602214	0	0
AOC2	314	broad.mit.edu	37	17	40996859	40996859	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:40996859C>G	ENST00000253799.3	+	1	243	c.216C>G	c.(214-216)acC>acG	p.T72T	AOC2_ENST00000452774.2_Silent_p.T72T	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	72					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GCTTTCTGACCCAGCGGCTGG	0.657000													4	219					0	0	3.59834e-05	0	0
HINFP	25988	broad.mit.edu	37	11	119001505	119001505	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:119001505C>T	ENST00000350777.2	+	3	315	c.252C>T	c.(250-252)cgC>cgT	p.R84R	HINFP_ENST00000527410.1_Silent_p.R84R|HINFP_ENST00000527354.1_3'UTR	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	84					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ACCTCATCCGCCATGTCTACT	0.527000													15	148					0	0	0.00074312	0	0
DYNC1LI2	1783	broad.mit.edu	37	16	66783166	66783166	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:66783166C>A	ENST00000258198.2	-	3	438	c.232G>T	c.(232-234)Gag>Tag	p.E78*	DYNC1LI2_ENST00000379482.2_Nonsense_Mutation_p.E78*|DYNC1LI2_ENST00000440564.2_Intron|DYNC1LI2_ENST00000443351.2_Nonsense_Mutation_p.E78*	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	78					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		TTGCCATGCTCAGCTCCTTGT	0.468000													7	109					0.000673444	0.0084606	0.000673444	1	0
FAM83B	222584	broad.mit.edu	37	6	54735312	54735312	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:54735312G>C	ENST00000306858.7	+	2	384	c.268G>C	c.(268-270)Ggg>Cgg	p.G90R		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	90										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CTTATCTTCAGGGACCTACTG	0.438000													4	122					0	0	0.000157383	0	0
SNAI2	6591	broad.mit.edu	37	8	49831458	49831458	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:49831458T>C	ENST00000396822.1	-	4	1072	c.715A>G	c.(715-717)Aag>Gag	p.K239E	SNAI2_ENST00000020945.1_Missense_Mutation_p.K239E			O43623	SNAI2_HUMAN	snail family zinc finger 2	239					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TGGTATTTCTTTACATCAGAA	0.493000													22	128					0	0	0.000175454	0	0
MKI67	4288	broad.mit.edu	37	10	129904336	129904336	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:129904336G>T	ENST00000368654.3	-	13	6143	c.5768C>A	c.(5767-5769)aCt>aAt	p.T1923N	MKI67_ENST00000368653.3_Missense_Mutation_p.T1563N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1923	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTCCACTGGAGTCCCCACAAA	0.483000													7	193					1.12685e-05	0.000195397	0.000274275	1	0
MRVI1	10335	broad.mit.edu	37	11	10673766	10673766	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:10673766C>A	ENST00000421747.1	-	1	82	c.4G>T	c.(4-6)Gga>Tga	p.G2*	MRVI1_ENST00000558540.1_Intron|MRVI1_ENST00000436272.1_Nonsense_Mutation_p.G2*|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000531107.1_Nonsense_Mutation_p.G2*|MRVI1_ENST00000532037.1_Intron|MRVI1_ENST00000423302.2_Intron|MRVI1_ENST00000547195.1_Intron|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000527509.2_Intron|MRVI1_ENST00000552103.1_5'UTR	NM_001098579.2	NP_001092049.2	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	2					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		AAATCCATTCCCATCCCTGTC	0.592000													4	13					0.000157383	0.00236471	0.000157383	1	0
ZNF615	284370	broad.mit.edu	37	19	52497719	52497719	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:52497719G>T	ENST00000602063.1	-	6	959	c.610C>A	c.(610-612)Cat>Aat	p.H204N	ZNF615_ENST00000594083.1_Missense_Mutation_p.H215N|ZNF615_ENST00000391795.3_Missense_Mutation_p.H209N|ZNF615_ENST00000598071.1_Missense_Mutation_p.H215N|ZNF615_ENST00000376716.5_Missense_Mutation_p.H204N			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CTGCATACATGGGCATTCTCT	0.373000													9	203					1.5842e-08	3.05422e-07	0.000151284	1	0
WDR48	57599	broad.mit.edu	37	3	39121287	39121287	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:39121287G>C	ENST00000302313.5	+	11	1189	c.1161G>C	c.(1159-1161)tgG>tgC	p.W387C	WDR48_ENST00000544962.1_Intron|WDR48_ENST00000396258.3_Missense_Mutation_p.W305C|WDR48_ENST00000418020.1_5'UTR	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	387					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGGCATATTGGGATGTATTGA	0.289000													4	155					0	0	0.000157383	0	0
IFNA16	3449	broad.mit.edu	37	9	21217277	21217277	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:21217277C>G	ENST00000380216.1	-	1	33	c.28G>C	c.(28-30)Gcc>Ccc	p.A10P		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	10					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		ACCAGCACGGCCATCAGTAAA	0.498000													4	66					0	0	3.59834e-05	0	0
ERBB4	2066	broad.mit.edu	37	2	212570084	212570084	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:212570084G>C	ENST00000342788.4	-	10	1467	c.1157C>G	c.(1156-1158)cCa>cGa	p.P386R	ERBB4_ENST00000436443.1_Missense_Mutation_p.P386R|ERBB4_ENST00000402597.1_Missense_Mutation_p.P386R	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	386					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.P386Q(2)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CAGTTTCTCTGGGTCTATGGC	0.323000										TSP Lung(8;0.080)			5	172					0	0	0.000602214	0	0
CEP85	64793	broad.mit.edu	37	1	26597549	26597549	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:26597549C>A	ENST00000252992.4	+	10	1825	c.1694C>A	c.(1693-1695)cCa>cAa	p.P565Q	CEP85_ENST00000469609.1_3'UTR|CEP85_ENST00000451429.2_Missense_Mutation_p.P514Q	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	565						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						GGAGAAGGTCCAGAAGTGGAA	0.507000													7	100					0.000673444	0.0084606	0.000673444	1	0
DDX1	1653	broad.mit.edu	37	2	15758386	15758386	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:15758386A>G	ENST00000381341.2	+	17	1587	c.1198A>G	c.(1198-1200)Aga>Gga	p.R400G	DDX1_ENST00000233084.3_Missense_Mutation_p.R400G			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	400	Helicase ATP-binding.|Necessary for interaction with RELA.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		TGATGGAAAAAGACTTCAGGT	0.368000													6	331					0	0	3.59834e-05	0	0
PRIM1	5557	broad.mit.edu	37	12	57127958	57127958	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:57127958G>C	ENST00000338193.6	-	12	1252	c.1216C>G	c.(1216-1218)Cga>Gga	p.R406G		NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)	406					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding			kidney(1)|lung(6)|prostate(1)	8						TCTCCTTTTCGGGATTTATCC	0.308000													4	117					0	0	3.59834e-05	0	0
PA2G4	5036	broad.mit.edu	37	12	56503697	56503697	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:56503697C>G	ENST00000303305.6	+	7	1026	c.607C>G	c.(607-609)Cag>Gag	p.Q203E	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Missense_Mutation_p.Q203E	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	203					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			AACCATTATCCAGAATCCCAC	0.433000													5	80					0	0	8.12818e-05	0	0
RPS6KA3	6197	broad.mit.edu	37	X	20181110	20181110	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:20181110C>A	ENST00000379565.3	-	19	2020	c.1813G>T	c.(1813-1815)Ggt>Tgt	p.G605C	RPS6KA3_ENST00000540702.1_Missense_Mutation_p.G576C|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.G577C|RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.G575C	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	605	Protein kinase 2.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|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	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						AGTAGGACACCAAGACTCCAT	0.333000													7	199					1.12685e-05	0.000195397	0.000274275	1	0
RAB3B	5865	broad.mit.edu	37	1	52442645	52442645	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:52442645G>C	ENST00000371655.3	-	2	357	c.145C>G	c.(145-147)Cca>Gca	p.P49A		NM_002867.3	NP_002858.2	P20337	RAB3B_HUMAN	RAB3B, member RAS oncogene family	49					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						ACGAAGGCTGGGGTGAACGTG	0.507000													4	67					0	0	3.59834e-05	0	0
SMG1	23049	broad.mit.edu	37	16	18823444	18823444	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:18823444G>T	ENST00000446231.2	-	61	11039	c.10627C>A	c.(10627-10629)Cgg>Agg	p.R3543R	RP11-1035H13.2_ENST00000569096.1_RNA|SMG1_ENST00000389467.3_Silent_p.R3544R			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3543					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GTGTTACTCCGGACTGCTACA	0.473000													7	114					1.12685e-05	0.000195397	0.000274275	1	0
CDC23	8697	broad.mit.edu	37	5	137527989	137527989	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:137527989G>T	ENST00000394886.2	-	11	1285	c.1255C>A	c.(1255-1257)Ctt>Att	p.L419I		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	419					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	p.L413I(1)		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)			TAATAATAAAGGCAGTAAAAT	0.438000													16	76					5.01169e-05	0.000826736	0.000566183	1	0
OR4N2	390429	broad.mit.edu	37	14	20296074	20296074	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:20296074C>T	ENST00000315947.1	+	1	467	c.467C>T	c.(466-468)tCc>tTc	p.S156F	OR4N2_ENST00000568211.1_Missense_Mutation_p.S156F	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTGTCCACTCCATTATCCAG	0.532000													11	152					0	0	0.00010058	0	0
APOL2	23780	broad.mit.edu	37	22	36623630	36623630	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:36623630G>A	ENST00000249066.6	-	6	1310	c.834C>T	c.(832-834)gcC>gcT	p.A278A	APOL2_ENST00000358502.5_Silent_p.A278A|APOL2_ENST00000451256.2_Silent_p.A390A	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	278					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						TGCCTCCAGTGGCTGCACCCA	0.552000													5	128					0	0	0.000602214	0	0
SNX27	81609	broad.mit.edu	37	1	151630869	151630869	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:151630869C>A	ENST00000368843.3	+	3	822	c.702C>A	c.(700-702)gcC>gcA	p.A234A	SNX27_ENST00000458013.2_Silent_p.A234A|SNX27_ENST00000368838.1_Silent_p.A141A	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	234	PX.				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding	p.A234A(1)		central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AATTAGATGCCCGACGTCGGG	0.408000													7	168					0.000274275	0.0038898	0.000274275	1	0
MCU	90550	broad.mit.edu	37	10	74620190	74620190	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:74620190G>A	ENST00000536019.1	+	4	699	c.254G>A	c.(253-255)cGc>cAc	p.R85H	MCU_ENST00000357157.6_Missense_Mutation_p.R134H|MCU_ENST00000373053.3_Missense_Mutation_p.R134H	NM_001270680.1	NP_001257609.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	134					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						GATGGTGTTCGCGTTGCTGCT	0.358000													6	107					0	0	0.000157383	0	0
C5orf42	65250	broad.mit.edu	37	5	37185170	37185170	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:37185170C>A	ENST00000274258.7	-	25	4431	c.844G>T	c.(844-846)Gag>Tag	p.E282*	C5orf42_ENST00000508244.1_Nonsense_Mutation_p.E1401*|C5orf42_ENST00000425232.2_Nonsense_Mutation_p.E1401*			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1401										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ATCATTTCCTCAGTCTGGGGT	0.398000													7	136					0.000274275	0.0038898	0.000274275	1	0
ZNF28	7576	broad.mit.edu	37	19	53304762	53304762	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:53304762G>C	ENST00000438150.2	-	2	1070	c.177C>G	c.(175-177)ccC>ccG	p.P59P	ZNF28_ENST00000457749.2_Silent_p.P112P|ZNF28_ENST00000360272.4_Silent_p.P59P|ZNF28_ENST00000594602.1_3'UTR|ZNF28_ENST00000414252.2_Silent_p.P59P|ZNF28_ENST00000339844.6_3'UTR			P17035	ZNF28_HUMAN	zinc finger protein 28	112	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TTTCTGTCATGGGTGCTGCAT	0.393000													5	254					0	0	8.12818e-05	0	0
MIIP	60672	broad.mit.edu	37	1	12089197	12089197	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:12089197G>A	ENST00000235332.4	+	5	824	c.656_splice	c.e5+1	p.E219_splice	MIIP_ENST00000436478.2_Splice_Site_p.E219_splice|MIIP_ENST00000466860.1_3'UTR	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	219										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CAGCCATCCTGAGTGAGCAGG	0.652000													6	46					0	0	0.000157383	0	0
DOCK11	139818	broad.mit.edu	37	X	117722243	117722243	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:117722243C>T	ENST00000276204.6	+	17	2013	c.1939C>T	c.(1939-1941)Ccc>Tcc	p.P647S	DOCK11_ENST00000276202.7_Missense_Mutation_p.P647S|DOCK11_ENST00000498252.1_3'UTR			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	647	DHR-1.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GTATGTATATCCCCTGCAATT	0.299000													7	115					0	0	0.000157383	0	0
FAM172A	83989	broad.mit.edu	37	5	93410361	93410361	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:93410361G>C	ENST00000395965.3	-	2	238	c.96C>G	c.(94-96)acC>acG	p.T32T	FAM172A_ENST00000504768.2_5'UTR|FAM172A_ENST00000509739.1_5'UTR|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000505869.1_Intron	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	32						endoplasmic reticulum|extracellular region		p.T32T(1)		endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						CTTTCAGTGCGGTAGTCTTTT	0.358000													5	75					0	0	3.59834e-05	0	0
RELN	5649	broad.mit.edu	37	7	103234862	103234862	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:103234862C>G	ENST00000424685.2	-	26	3776	c.3617G>C	c.(3616-3618)gGg>gCg	p.G1206A	RELN_ENST00000428762.1_Missense_Mutation_p.G1206A|RELN_ENST00000343529.5_Missense_Mutation_p.G1206A			P78509	RELN_HUMAN	reelin	1206					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)		ATAGTCCTCCCCTGAGAACAC	0.488000													5	134					0	0	0.000602214	0	0
NHLRC1	378884	broad.mit.edu	37	6	18122653	18122653	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:18122653C>T	ENST00000340650.3	-	1	198	c.185G>A	c.(184-186)cGc>cAc	p.R62H		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	62					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			GGCCAGAGTGCGCGGGTGCGC	0.701000													4	16					0	0	0.00024832	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803552	142803552	+	RNA	SNP	T	T	A	rs141013493	by1000genomes	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:142803552T>A	ENST00000423385.1	-	0	1413																											TCCTGATGAATCTGCAGTCAG	0.269000													24	624					0	0	0.000227799	0	0
ZFP37	7539	broad.mit.edu	37	9	115806073	115806073	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:115806073G>C	ENST00000374227.3	-	4	852	c.825C>G	c.(823-825)ccC>ccG	p.P275P	ZFP37_ENST00000553380.1_Silent_p.P290P|ZFP37_ENST00000555206.1_Silent_p.P276P			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	275						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AGCTAAGGCTGGGTGATTTCT	0.373000													4	129					0	0	0.00024832	0	0
FKBPL	63943	broad.mit.edu	37	6	32097495	32097495	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:32097495C>G	ENST00000375156.3	-	2	333	c.63G>C	c.(61-63)tgG>tgC	p.W21C		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	21					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										GGTTCTTTTCCCACTCTTGTT	0.502000													6	432					0	0	3.59834e-05	0	0
RFPL2	10739	broad.mit.edu	37	22	32587262	32587262	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:32587262G>T	ENST00000400236.3	-	5	1569	c.364C>A	c.(364-366)Cgc>Agc	p.R122S	RFPL2_ENST00000400237.1_Missense_Mutation_p.R212S|RFPL2_ENST00000248980.4_Missense_Mutation_p.R151S|RFPL2_ENST00000248983.4_Missense_Mutation_p.R122S|RFPL2_ENST00000489846.1_5'UTR	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	212							zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TGTCTGATGCGCCCACTTCGG	0.542000													5	89					0.000274275	0.0038898	0.000274275	1	0
AKAP9	10142	broad.mit.edu	37	7	91660889	91660889	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:91660889C>A	ENST00000359028.2	+	17	4570	c.4345C>A	c.(4345-4347)Caa>Aaa	p.Q1449K	AKAP9_ENST00000356239.3_Missense_Mutation_p.Q1437K|AKAP9_ENST00000358100.2_Missense_Mutation_p.Q1449K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1449					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAACAATACCAAGAACAATT	0.303000			T	BRAF	papillary thyroid								12	259					0.000219431	0.00327883	0.000219431	1	0
MGST3	4259	broad.mit.edu	37	1	165621271	165621271	+	Splice_Site	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:165621271C>A	ENST00000367889.3	+	4	688	c.249_splice	c.e4+1	p.P83_splice	MGST3_ENST00000404549.1_Splice_Site_p.P97_splice|MGST3_ENST00000367886.2_Splice_Site_p.P97_splice|MGST3_ENST00000367888.4_Splice_Site_p.P83_splice|MGST3_ENST00000367884.1_Splice_Site_p.P83_splice|MGST3_ENST00000367883.1_Splice_Site_p.P97_splice|MGST3_ENST00000367885.1_Splice_Site_p.P97_splice	NM_004528.3	NP_004519.1	O14880	MGST3_HUMAN	microsomal glutathione S-transferase 3	83					leukotriene biosynthetic process|leukotriene production involved in inflammatory response|signal transduction|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glutathione peroxidase activity|glutathione transferase activity	p.P83Q(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Glutathione(DB00143)	GTTTACCACCCGGTAAGTTTT	0.368000													7	132					8.12818e-05	0.00129777	8.12818e-05	1	0
XIRP2	129446	broad.mit.edu	37	2	168100444	168100444	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:168100444C>G	ENST00000409195.1	+	9	2631	c.2542C>G	c.(2542-2544)Cag>Gag	p.Q848E	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q848E|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q626E|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	673					actin cytoskeleton organization	cell junction	actin binding	p.Q848K(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTTTGAAACCCAGCCATTAGA	0.373000													4	101					0	0	3.59834e-05	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135751662	135751662	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:135751662G>C	ENST00000250617.6	-	21	3374	c.2169C>G	c.(2167-2169)gaC>gaG	p.D723E	ARHGEF6_ENST00000535227.1_Missense_Mutation_p.D596E|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.D569E|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.D569E	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	723					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CTCTGACCTCGTCCTTCAAGG	0.378000													4	268					0	0	0.000157383	0	0
CRYBG3	131544	broad.mit.edu	37	3	97598911	97598911	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:97598911C>A	ENST00000182096.4	+	3	1191	c.1127C>A	c.(1126-1128)cCa>cAa	p.P376Q		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TGGTCTTTTCCAAATGGAGTT	0.313000													7	144					0.000673444	0.0084606	0.000673444	1	0
SUCO	51430	broad.mit.edu	37	1	172555063	172555063	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:172555063G>T	ENST00000367723.3	+	16	2213	c.2089G>T	c.(2089-2091)Gtt>Ttt	p.V697F	SUCO_ENST00000263688.3_Missense_Mutation_p.V545F	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		Atcaactcctgtttcaactcc	0.323000													7	197					0.000442599	0.00584094	0.000442599	1	0
CNOT10	25904	broad.mit.edu	37	3	32757720	32757720	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:32757720G>C	ENST00000328834.5	+	6	893	c.577G>C	c.(577-579)Ggt>Cgt	p.G193R	CNOT10_ENST00000463697.1_3'UTR|CNOT10_ENST00000538368.1_5'UTR|CNOT10_ENST00000454516.2_Missense_Mutation_p.G253R|CNOT10_ENST00000331889.6_Missense_Mutation_p.G193R	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	193					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						CCTACAGACTGGTAATAACAA	0.294000													8	211					0	0	0.000274275	0	0
SI	6476	broad.mit.edu	37	3	164776979	164776979	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:164776979C>G	ENST00000264382.3	-	11	1317	c.1255G>C	c.(1255-1257)Gga>Cga	p.G419R		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	419	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TATTTCTGTCCATGGTCATGC	0.338000										HNSCC(35;0.089)			3	36					0	0	3.59834e-05	0	0
HGF	3082	broad.mit.edu	37	7	81388021	81388021	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:81388021G>T	ENST00000222390.5	-	3	580	c.354C>A	c.(352-354)ctC>ctA	p.L118L	HGF_ENST00000354224.6_Silent_p.L118L|HGF_ENST00000453411.1_Silent_p.L118L|HGF_ENST00000453018.1_Silent_p.L15L|HGF_ENST00000423064.2_Silent_p.L118L|HGF_ENST00000457544.2_Silent_p.L118L|HGF_ENST00000444829.2_Silent_p.L118L	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	118	PAN.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TGTTTTCATAGAGGTCAAATT	0.353000													8	141					0.000157383	0.00236471	0.000157383	1	0
AGMO	392636	broad.mit.edu	37	7	15240953	15240953	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:15240953C>A	ENST00000342526.3	-	13	1464	c.1295G>T	c.(1294-1296)gGa>gTa	p.G432V		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	432					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						GCTTCTAACTCCCCAGAAAGC	0.323000													8	127					0.000274275	0.0038898	0.000274275	1	0
CD2BP2	10421	broad.mit.edu	37	16	30365935	30365935	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:30365935G>T	ENST00000305596.3	-	2	243	c.68C>A	c.(67-69)cCc>cAc	p.P23H	CD2BP2_ENST00000569466.1_Missense_Mutation_p.P23H	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	23					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CTTCTTCTTGGGGACAATGAT	0.567000													12	302					0.000422831	0.00584094	0.000422831	1	0
WDR44	54521	broad.mit.edu	37	X	117528104	117528104	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:117528104G>A	ENST00000254029.3	+	5	1308	c.913G>A	c.(913-915)Gat>Aat	p.D305N	WDR44_ENST00000371825.3_Missense_Mutation_p.D305N|WDR44_ENST00000371822.5_Missense_Mutation_p.D280N	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	305						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						GCCTTCTCTTGATTTGGCAAG	0.423000													20	125					0	0	0.000375601	0	0
CARS	833	broad.mit.edu	37	11	3039116	3039116	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:3039116C>G	ENST00000397114.3	-	15	1795	c.1419G>C	c.(1417-1419)tgG>tgC	p.W473C	CARS_ENST00000397111.5_Missense_Mutation_p.W483C|CARS_ENST00000401769.3_Missense_Mutation_p.W496C|CARS_ENST00000278224.9_Missense_Mutation_p.W483C|CARS_ENST00000380525.4_Missense_Mutation_p.W566C			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	483					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CTTCTTCTCCCCACTTCTCAA	0.423000			T	ALK	ALCL								4	93					0	0	8.12818e-05	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105434393	105434393	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:105434393G>C	ENST00000258494.9	-	16	2083	c.1943C>G	c.(1942-1944)cCa>cGa	p.P648R	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	648	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						ACCTGAGCCTGGAATGATGTT	0.468000													5	273					0	0	0.000602214	0	0
PRDM5	11107	broad.mit.edu	37	4	121737626	121737626	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:121737626G>T	ENST00000264808.3	-	7	1087	c.847C>A	c.(847-849)Cag>Aag	p.Q283K	PRDM5_ENST00000515109.1_Missense_Mutation_p.Q252K|PRDM5_ENST00000428209.2_Missense_Mutation_p.Q252K	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	283					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACATTTTCCTGGTGTCTTTTC	0.547000													5	57					0.000442599	0.00584094	0.000442599	1	0
KIAA1024	23251	broad.mit.edu	37	15	79748810	79748810	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:79748810G>A	ENST00000305428.3	+	2	396	c.321G>A	c.(319-321)acG>acA	p.T107T		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	107						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						AGCTGCCCACGGGCCGCCAGA	0.512000													5	92					0	0	0.000602214	0	0
USP4	7375	broad.mit.edu	37	3	49315767	49315767	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:49315767C>G	ENST00000351842.4	-	21	2718	c.2710G>C	c.(2710-2712)Ggc>Cgc	p.G904R	USP4_ENST00000265560.4_Missense_Mutation_p.G951R	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	951					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TCCCCAAAGCCCTGCTGAGAG	0.507000													5	108					0	0	0.000602214	0	0
TOP2B	7155	broad.mit.edu	37	3	25657016	25657016	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:25657016G>A	ENST00000435706.2	-	26	3599	c.3398C>T	c.(3397-3399)cCt>cTt	p.P1133L	TOP2B_ENST00000475717.1_5'UTR|TOP2B_ENST00000264331.4_Missense_Mutation_p.P1138L|TOP2B_ENST00000540199.1_5'UTR|TOP2B_ENST00000542520.1_5'UTR			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1138					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						TGGGCCTGAAGGAGTTCCTGA	0.333000													7	31					0	0	8.12818e-05	0	0
MIR1197	100302250	broad.mit.edu	37	14	101491905	101491905	+	RNA	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:101491905C>T	ENST00000408818.1	+	0	5					NR_031713.1																						AGCGTCACTTCCTGGTATTTG	0.493000													7	57					0	0	0.000442599	0	0
ABAT	18	broad.mit.edu	37	16	8862816	8862816	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:8862816C>G	ENST00000396600.2	+	11	1740	c.802C>G	c.(802-804)Cgc>Ggc	p.R268G	ABAT_ENST00000268251.8_Missense_Mutation_p.R268G|ABAT_ENST00000567812.1_Missense_Mutation_p.R283G|ABAT_ENST00000425191.2_Missense_Mutation_p.R268G|ABAT_ENST00000569156.1_Missense_Mutation_p.R268G	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	268				R -> G (in Ref. 1; AAA74449).	behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	GGAGGAGGCCCGCTGTCTGGA	0.552000													4	153					0	0	3.59834e-05	0	0
KIRREL	55243	broad.mit.edu	37	1	158058125	158058125	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:158058125C>T	ENST00000368172.1	+	4	331	c.319C>T	c.(319-321)Cgg>Tgg	p.R107W	KIRREL_ENST00000360089.4_Missense_Mutation_p.R145W|KIRREL_ENST00000368173.3_Missense_Mutation_p.R309W|KIRREL_ENST00000392272.2_Missense_Mutation_p.R206W|KIRREL_ENST00000359209.6_Missense_Mutation_p.R309W|KIRREL_ENST00000416935.2_Missense_Mutation_p.R209W			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	309	Ig-like C2-type 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					AGTTGCTCCCCGGATTGTAGT	0.542000											OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	155					0	0	3.59834e-05	0	0
PKD1L1	168507	broad.mit.edu	37	7	47924216	47924216	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:47924216G>C	ENST00000289672.2	-	19	3295	c.3245C>G	c.(3244-3246)cCa>cGa	p.P1082R		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1082	REJ.				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						TCCTCCCGATGGTATTGCTTC	0.438000													4	60					0	0	0.000157383	0	0
AKAP9	10142	broad.mit.edu	37	7	91631932	91631932	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:91631932C>A	ENST00000359028.2	+	9	2962	c.2737C>A	c.(2737-2739)Cat>Aat	p.H913N	AKAP9_ENST00000356239.3_Missense_Mutation_p.H901N|AKAP9_ENST00000358100.2_Missense_Mutation_p.H913N			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	913	Glu-rich.			H -> N (in Ref. 3; BAA78718).	G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGAAGAGCTTCATTTGCAAAG	0.313000			T	BRAF	papillary thyroid								8	149					7.48243e-07	1.3784e-05	0.000442599	1	0
SPOPL	339745	broad.mit.edu	37	2	139316692	139316692	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:139316692G>T	ENST00000280098.4	+	6	960	c.581G>T	c.(580-582)tGg>tTg	p.W194L		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	194						nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GGTAATCTCTGGGAAAACACA	0.383000													7	119					0.000274275	0.0038898	0.000274275	1	0
SLC36A4	120103	broad.mit.edu	37	11	92895883	92895883	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:92895883G>C	ENST00000326402.4	-	9	1156	c.1026C>G	c.(1024-1026)ccC>ccG	p.P342P	SLC36A4_ENST00000529184.1_Silent_p.P207P	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	342					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATACATCTTGGGGAAGATTTA	0.313000													7	208					0	0	0.000157383	0	0
ITGA9	3680	broad.mit.edu	37	3	37522991	37522991	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:37522991G>C	ENST00000264741.5	+	4	693	c.437G>C	c.(436-438)tGg>tCg	p.W146S	ITGA9_ENST00000422441.1_Missense_Mutation_p.W146S	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	146					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		GCTCATCGCTGGAAGAACATC	0.527000													5	137					0	0	0.000157383	0	0
SDK2	54549	broad.mit.edu	37	17	71387647	71387647	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:71387647G>C	ENST00000392650.3	-	28	3929	c.3929C>G	c.(3928-3930)cCa>cGa	p.P1310R	SDK2_ENST00000388726.3_Missense_Mutation_p.P1310R	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1310	Fibronectin type-III 8.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CCGCACCTCTGGGAACAGGAT	0.672000													4	21					0	0	3.59834e-05	0	0
ZFAT	57623	broad.mit.edu	37	8	135600607	135600607	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:135600607G>A	ENST00000520727.1	-	10	2858	c.2559C>T	c.(2557-2559)ctC>ctT	p.L853L	ZFAT_ENST00000429442.2_Silent_p.L853L|ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000523399.1_Silent_p.L803L|ZFAT_ENST00000520356.1_Silent_p.L853L|ZFAT_ENST00000520214.1_Silent_p.L853L|ZFAT_ENST00000377838.3_Silent_p.L865L	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	865					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CCCTCCTCCCGAGAACCTCAG	0.453000													4	11					0	0	0.000602214	0	0
CLDN22	53842	broad.mit.edu	37	4	184240727	184240727	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:184240727G>T	ENST00000323319.5	-	1	1200	c.645C>A	c.(643-645)aaC>aaA	p.N215K	WWC2_ENST00000403733.3_3'UTR	NM_001111319.1	NP_001104789.1	Q8N7P3	CLD22_HUMAN	claudin 22	215					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TCAGGTTGGTGTTTCTCGTCT	0.532000													6	229					0.000673444	0.0084606	0.000673444	1	0
FAM193A	8603	broad.mit.edu	37	4	2659570	2659570	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:2659570G>T	ENST00000324666.5	+	6	830	c.479G>T	c.(478-480)tGg>tTg	p.W160L	FAM193A_ENST00000505311.1_Missense_Mutation_p.W160L|FAM193A_ENST00000382839.3_Missense_Mutation_p.W160L|FAM193A_ENST00000502458.1_Missense_Mutation_p.W184L|FAM193A_ENST00000545951.1_Missense_Mutation_p.W160L	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	160										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						ACAGAAGACTGGGAGCTTTTT	0.348000													11	348					0.000308642	0.00436061	0.000308642	1	0
CR2	1380	broad.mit.edu	37	1	207640102	207640102	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:207640102C>T	ENST00000367057.3	+	2	479	c.290C>T	c.(289-291)cCa>cTa	p.P97L	CR2_ENST00000367059.3_Missense_Mutation_p.P97L|CR2_ENST00000367058.3_Missense_Mutation_p.P97L|CR2_ENST00000458541.2_Missense_Mutation_p.P97L	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	97	Sushi 2.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CCCATAGTACCAGGAGGATAC	0.398000													9	70					0	0	0.000442599	0	0
TMEM171	134285	broad.mit.edu	37	5	72424224	72424224	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:72424224G>C	ENST00000454765.2	+	3	1121	c.648G>C	c.(646-648)tcG>tcC	p.S216S	TMEM171_ENST00000287773.5_Silent_p.S216S			Q8WVE6	TM171_HUMAN	transmembrane protein 171	216						integral to membrane				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		TAGGTGACTCGGTAATAATAT	0.398000													6	271					0	0	0.000442599	0	0
UNC45A	55898	broad.mit.edu	37	15	91491413	91491413	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:91491413G>C	ENST00000394275.2	+	15	2427	c.1592G>C	c.(1591-1593)tGg>tCg	p.W531S	UNC45A_ENST00000418476.2_Missense_Mutation_p.W546S	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	546					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			ACTCGGCGCTGGGCAGTGGAG	0.607000													6	383					0	0	0.000442599	0	0
TARS	6897	broad.mit.edu	37	5	33467028	33467028	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:33467028C>G	ENST00000265112.3	+	18	2272	c.1961C>G	c.(1960-1962)cCa>cGa	p.P654R	TARS_ENST00000414361.2_Missense_Mutation_p.P533R|TARS_ENST00000455217.2_Missense_Mutation_p.P687R|TARS_ENST00000502553.1_Missense_Mutation_p.P654R|TARS_ENST00000541634.1_Missense_Mutation_p.P550R	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	654					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	GATCTGGATCCAGGCTGTACA	0.353000													4	109					0	0	3.59834e-05	0	0
PSPC1	55269	broad.mit.edu	37	13	20283704	20283704	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:20283704G>C	ENST00000338910.4	-	7	1353	c.1194C>G	c.(1192-1194)ccC>ccG	p.P398P		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	398	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TTGCTCCACGGGGACCCATAT	0.388000													4	131					0	0	0.00024832	0	0
CLRN1	7401	broad.mit.edu	37	3	150645853	150645853	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:150645853C>A	ENST00000327047.1	-	3	859	c.569G>T	c.(568-570)tGg>tTg	p.W190L	RP11-166N6.2_ENST00000469268.1_RNA|CLRN1-AS1_ENST00000476886.1_RNA|CLRN1_ENST00000328863.4_Missense_Mutation_p.W203L|CLRN1_ENST00000295911.2_Splice_Site_p.W114_splice|RP11-166N6.3_ENST00000569170.1_Intron	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	190					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GAAAATGACCCAGAATGAGGT	0.353000													8	139					1.58986e-06	2.89309e-05	0.000673444	1	0
TDRD6	221400	broad.mit.edu	37	6	46663583	46663583	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:46663583G>A	ENST00000544460.1	+	2	6326	c.6072G>A	c.(6070-6072)ctG>ctA	p.L2024L	TDRD6_ENST00000316081.6_Silent_p.L2024L	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	2024					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CCTACACTCTGAAAGCCTTTA	0.368000													34	133					0	0	0.00058488	0	0
LONP2	83752	broad.mit.edu	37	16	48330035	48330035	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:48330035C>A	ENST00000285737.4	+	9	1586	c.1493C>A	c.(1492-1494)cCa>cAa	p.P498Q	LONP2_ENST00000535754.1_Missense_Mutation_p.P454Q	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	498					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GCTACCATTCCAGCTGCCTTG	0.388000													8	164					0.000442599	0.00584094	0.000442599	1	0
MROH2B	133558	broad.mit.edu	37	5	41008722	41008722	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:41008722G>A	ENST00000399564.4	-	33	4044	c.3594C>T	c.(3592-3594)atC>atT	p.I1198I	MROH2B_ENST00000506092.2_Silent_p.I753I	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AGGGGTCTGGGATCTGCTGCT	0.567000													7	38					0	0	0.000274275	0	0
ZRSR2	8233	broad.mit.edu	37	X	15833823	15833823	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:15833823C>A	ENST00000307771.7	+	8	605	c.581C>A	c.(580-582)cCa>cAa	p.P194Q		NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	194					spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					CATAATTTCCCAACATCCAGT	0.423000			"""F, S, Mis"""		"""MDS, CLL"""								8	366					0.000673444	0.0084606	0.000673444	1	0
PSG1	5669	broad.mit.edu	37	19	43373161	43373161	+	Silent	SNP	G	G	C	rs2883092		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:43373161G>C	ENST00000244296.2	-	4	872	c.735C>G	c.(733-735)acC>acG	p.T245T	PSG1_ENST00000595356.1_Silent_p.T245T|PSG1_ENST00000595124.1_Silent_p.T152T|PSG1_ENST00000403380.3_Silent_p.T152T|PSG1_ENST00000312439.6_Silent_p.T245T|PSG1_ENST00000436291.2_Silent_p.T245T	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				AGTTGTTGATGGTGATGTAGG	0.453000													4	147					0	0	8.12818e-05	0	0
TMEM63B	55362	broad.mit.edu	37	6	44121907	44121907	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:44121907C>A	ENST00000259746.9	+	22	2391	c.2208C>A	c.(2206-2208)ctC>ctA	p.L736L	TMEM63B_ENST00000323267.6_Silent_p.L736L			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	736						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			TCAAATACCTCAGTGCCCACA	0.587000													7	129					0.000442599	0.00584094	0.000442599	1	0
SAMD4A	23034	broad.mit.edu	37	14	55243204	55243204	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:55243204C>A	ENST00000251091.5	+	9	2031	c.1726C>A	c.(1726-1728)Cgc>Agc	p.R576S	SAMD4A_ENST00000555192.1_Missense_Mutation_p.R255S|SAMD4A_ENST00000554335.1_Missense_Mutation_p.R664S|SAMD4A_ENST00000357634.3_Missense_Mutation_p.R663S|SAMD4A_ENST00000392067.3_Missense_Mutation_p.R664S	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	664					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CCAGAGGACCCGCTCGCTGCC	0.607000													5	118					4.096e-09	7.94299e-08	3.59834e-05	1	0
MEAF6	64769	broad.mit.edu	37	1	37967583	37967583	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:37967583C>A	ENST00000373075.2	-	5	371	c.355G>T	c.(355-357)Ggg>Tgg	p.G119W	MEAF6_ENST00000448519.2_Missense_Mutation_p.G119W|MEAF6_ENST00000373073.4_Missense_Mutation_p.G119W|MEAF6_ENST00000475828.1_5'UTR|MEAF6_ENST00000373074.1_Missense_Mutation_p.G97W|MEAF6_ENST00000296214.5_Missense_Mutation_p.G119W	NM_022756.4	NP_073593.2	Q9HAF1	EAF6_HUMAN	MYST/Esa1-associated factor 6	119					histone H2A acetylation|histone H3-K14 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|NuA4 histone acetyltransferase complex|nucleolus	protein binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						CTTTCCGTCCCACTTCCTGGC	0.483000													9	128					0.000442599	0.00584094	0.000442599	1	0
EVPL	2125	broad.mit.edu	37	17	74013933	74013933	+	Missense_Mutation	SNP	G	G	C	rs142143003		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:74013933G>C	ENST00000301607.3	-	14	1850	c.1597C>G	c.(1597-1599)Cgg>Ggg	p.R533G	EVPL_ENST00000586740.1_Missense_Mutation_p.R555G	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	533	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCATCCAGCCGGGTCATCTGT	0.677000													4	89					0	0	0.000157383	0	0
TRPV6	55503	broad.mit.edu	37	7	142573347	142573347	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:142573347C>G	ENST00000359396.3	-	8	1241	c.996G>C	c.(994-996)ctG>ctC	p.L332L		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	332					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					ATATGGCACCCAGCATGCAGA	0.592000													4	160					0	0	0.00024832	0	0
CELSR3	1951	broad.mit.edu	37	3	48697581	48697581	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:48697581C>G	ENST00000544264.1	-	1	2767	c.2487G>C	c.(2485-2487)ctG>ctC	p.L829L	CELSR3_ENST00000164024.4_Silent_p.L829L			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	829	Cadherin 5.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGTTAGTACCAGCTTGAAGT	0.547000													4	118					0	0	0.000602214	0	0
PIP4K2C	79837	broad.mit.edu	37	12	57993198	57993198	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:57993198C>G	ENST00000354947.5	+	6	692	c.676C>G	c.(676-678)Cgg>Ggg	p.R226G	PIP4K2C_ENST00000540759.2_Missense_Mutation_p.R226G|PIP4K2C_ENST00000422156.3_Missense_Mutation_p.R178G|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.R208G			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	226	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					CCTAGTGTCCCGGGAAGCCAG	0.498000													4	78					0	0	0.000157383	0	0
SKIL	6498	broad.mit.edu	37	3	170079214	170079214	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:170079214C>A	ENST00000458537.3	+	1	1804	c.1095C>A	c.(1093-1095)tcC>tcA	p.S365S	SKIL_ENST00000259119.4_Silent_p.S365S|SKIL_ENST00000413427.2_Silent_p.S365S|SKIL_ENST00000426052.2_Silent_p.S345S	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	365					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GAAATCAATCCAAGGCAAGTT	0.289000													11	272					7.93312e-07	1.45693e-05	0.000219431	1	0
MACROD2	140733	broad.mit.edu	37	20	15967371	15967371	+	Splice_Site	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:15967371G>T	ENST00000217246.4	+	14	1380		c.e14-1		MACROD2_ENST00000407045.3_Splice_Site|MACROD2_ENST00000402914.1_Splice_Site|MACROD2_ENST00000310348.4_Splice_Site|MACROD2_ENST00000378058.3_Splice_Site	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2											breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GTTTTGAACAGGACAAGAGAA	0.338000													8	94					0.000274275	0.0038898	0.000274275	1	0
SMAD4	4089	broad.mit.edu	37	18	48584778	48584778	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:48584778G>C	ENST00000342988.3	+	7	1394	c.856G>C	c.(856-858)Ggc>Cgc	p.G286R	SMAD4_ENST00000398417.2_Missense_Mutation_p.G286R|SMAD4_ENST00000588745.1_Intron	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	286	SAD.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CCACCAAAACGGCCATCTTCA	0.463000													4	139					0	0	0.00024832	0	0
DENND2A	27147	broad.mit.edu	37	7	140227128	140227128	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:140227128G>T	ENST00000275884.6	-	14	2912	c.2495C>A	c.(2494-2496)cCg>cAg	p.P832Q	DENND2A_ENST00000496613.1_Missense_Mutation_p.P832Q|DENND2A_ENST00000537639.1_Missense_Mutation_p.P832Q			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	832	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CTCTTCCAGCGGCAGCTCCCT	0.677000													4	5					0.00024832	0.00370863	0.00024832	1	0
PFDN2	5202	broad.mit.edu	37	1	161070583	161070583	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:161070583G>T	ENST00000368010.3	-	4	439	c.355C>A	c.(355-357)Cgg>Agg	p.R119R	PFDN2_ENST00000468311.1_5'UTR	NM_012394.3	NP_036526.2	Q9UHV9	PFD2_HUMAN	prefoldin subunit 2	119					'de novo' posttranslational protein folding	prefoldin complex	unfolded protein binding			lung(1)|skin(1)	2	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TGCTTTTCCCGGAATTCATTT	0.468000													6	160					0.000673444	0.0084606	0.000673444	1	0
NLRP7	199713	broad.mit.edu	37	19	55449463	55449463	+	Missense_Mutation	SNP	C	C	G	rs104895502		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:55449463C>G	ENST00000588756.1	-	7	2564	c.2078G>C	c.(2077-2079)cGg>cCg	p.R693P	NLRP7_ENST00000590030.1_Missense_Mutation_p.R693P|NLRP7_ENST00000328092.5_Missense_Mutation_p.R665P|NLRP7_ENST00000592784.1_Missense_Mutation_p.R693P|NLRP7_ENST00000448121.2_Missense_Mutation_p.R665P|NLRP7_ENST00000340844.2_Missense_Mutation_p.R693P|NLRP7_ENST00000446217.1_Missense_Mutation_p.R721P			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	693			R -> P (in HYDM).|R -> Q (in HYDM).|R -> W (in HYDM).				ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		ACAAAGAATCCGCACAGAAGA	0.473000													6	247					0	0	0.000157383	0	0
DGCR8	54487	broad.mit.edu	37	22	20077223	20077223	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:20077223C>G	ENST00000351989.3	+	4	1341	c.912C>G	c.(910-912)ccC>ccG	p.P304P	DGCR8_ENST00000407755.1_Silent_p.P304P|DGCR8_ENST00000383024.2_Silent_p.P304P	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	304	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with NCL.|WW.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AGCCGCTGCCCGACGGGTGGA	0.547000													4	100					0	0	3.59834e-05	0	0
CHRD	8646	broad.mit.edu	37	3	184099524	184099524	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:184099524G>C	ENST00000204604.1	+	5	778	c.532G>C	c.(532-534)Ggg>Cgg	p.G178R	CHRD_ENST00000348986.3_Missense_Mutation_p.G178R|CHRD_ENST00000450923.1_Missense_Mutation_p.G178R|CHRD_ENST00000482805.1_3'UTR|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	178	CHRD 1.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCTGCTGACAGGGCCGAGGTC	0.642000													3	21					0	0	0.00024832	0	0
CHRNB1	1140	broad.mit.edu	37	17	7352034	7352034	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:7352034G>T	ENST00000306071.2	+	7	814	c.747G>T	c.(745-747)ctG>ctT	p.L249L	CHRNB1_ENST00000536404.2_Silent_p.L177L|CHRNB1_ENST00000576360.1_Silent_p.L177L	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	249					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				TCTTCTACCTGGTCAACGTCA	0.567000													7	92					0.000442599	0.00584094	0.000442599	1	0
OIT3	170392	broad.mit.edu	37	10	74690314	74690314	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:74690314G>C	ENST00000334011.5	+	8	1604	c.1386G>C	c.(1384-1386)tcG>tcC	p.S462S		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	462	ZP.					nuclear envelope	calcium ion binding	p.S462S(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					CAGATGACTCGGTAAAGCAGT	0.443000													6	183					0	0	3.59834e-05	0	0
LRPPRC	10128	broad.mit.edu	37	2	44173338	44173338	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:44173338G>T	ENST00000260665.7	-	21	2181	c.2124C>A	c.(2122-2124)gaC>gaA	p.D708E		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	708					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CAGTAACCATGTCGGATTCAT	0.353000													7	343					7.03913e-09	1.36149e-07	0.00010058	1	0
SUN5	140732	broad.mit.edu	37	20	31575518	31575518	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:31575518C>A	ENST00000356173.3	-	10	769	c.677G>T	c.(676-678)tGg>tTg	p.W226L	SUN5_ENST00000375523.3_Missense_Mutation_p.W201L	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	226	SUN.				spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						GATCCAGTTCCAGTAGGAGTG	0.612000													4	17					3.59834e-05	0.000600898	3.59834e-05	1	0
MRPL39	54148	broad.mit.edu	37	21	26965236	26965236	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:26965236G>T	ENST00000307301.7	-	8	850	c.809C>A	c.(808-810)cCa>cAa	p.P270Q	MRPL39_ENST00000352957.4_Missense_Mutation_p.P270Q	NM_080794.3	NP_542984.2	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	270						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						ACTTGTTCTTGGAATAAGAGG	0.378000													7	152					0.000673444	0.0084606	0.000673444	1	0
DDX55	57696	broad.mit.edu	37	12	124101059	124101059	+	Splice_Site	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:124101059G>C	ENST00000238146.4	+	10	1008	c.956_splice	c.e10-1	p.G320_splice	DDX55_ENST00000541259.1_3'UTR|DDX55_ENST00000538744.1_Intron	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	320	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		ATTTCCTAGTGGGATTTTAGT	0.473000													4	125					0	0	0.00024832	0	0
ESYT2	57488	broad.mit.edu	37	7	158534440	158534440	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:158534440G>T	ENST00000251527.5	-	17	2088	c.2023C>A	c.(2023-2025)Cca>Aca	p.P675T	ESYT2_ENST00000435514.2_Missense_Mutation_p.P110T	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	703						integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						GGTGTGGATGGAGCTGTGTTG	0.577000													6	98					3.59834e-05	0.000600898	3.59834e-05	1	0
AHNAK	79026	broad.mit.edu	37	11	62295271	62295271	+	Silent	SNP	A	A	C	rs149402141	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:62295271A>C	ENST00000378024.4	-	5	6892	c.6618T>G	c.(6616-6618)gtT>gtG	p.V2206V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2206					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTACCTTGGGAACAGACACAT	0.493000													6	275					0	0	0.000442599	0	0
FMN1	342184	broad.mit.edu	37	15	33260931	33260931	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:33260931G>T	ENST00000334528.9	-	4	2301	c.2302C>A	c.(2302-2304)Caa>Aaa	p.Q768K	FMN1_ENST00000559047.1_Missense_Mutation_p.Q991K|FMN1_ENST00000561249.1_Missense_Mutation_p.Q893K	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	991	Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCACTTATTTGTATCCTAGTC	0.438000													7	173					2.0095e-06	3.63673e-05	8.12818e-05	1	0
NEK5	341676	broad.mit.edu	37	13	52639571	52639571	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:52639571G>C	ENST00000355568.4	-	22	2238	c.2099C>G	c.(2098-2100)cCg>cGg	p.P700R		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	700							ATP binding|metal ion binding|protein serine/threonine kinase activity	p.P700L(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TGGGCTGTACGGGTCCTTGGT	0.502000													5	108					0	0	0.000274275	0	0
NRAS	4893	broad.mit.edu	37	1	115256579	115256579	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:115256579C>A	ENST00000369535.4	-	3	385	c.132G>T	c.(130-132)gtG>gtT	p.V44V		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	44					activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity			NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATCTATAACCACTTGTTTTC	0.458000		50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			9	177					3.45872e-05	0.000585782	0.000422831	1	0
TTN	7273	broad.mit.edu	37	2	179468971	179468971	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:179468971C>T	ENST00000589042.1	-	282	54667	c.54443G>A	c.(54442-54444)gGa>gAa	p.G18148E	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G9083E|TTN_ENST00000342992.6_Missense_Mutation_p.G15580E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G9208E|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G9275E|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G16507E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16507	Ig-like 105.						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)			ATCACTGATTCCATATTTATT	0.388000													4	40					0	0	0.00024832	0	0
POLE	5426	broad.mit.edu	37	12	133253988	133253988	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:133253988C>G	ENST00000320574.5	-	8	805	c.762G>C	c.(760-762)ccG>ccC	p.P254P	POLE_ENST00000535270.1_Silent_p.P227P	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	254					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|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	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGATTTCTACCGGAAAAGCAT	0.413000								DNA polymerases (catalytic subunits)					4	97					0	0	0.00024832	0	0
BACH2	60468	broad.mit.edu	37	6	90642470	90642470	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:90642470C>A	ENST00000257749.4	-	9	2890	c.2183G>T	c.(2182-2184)cGg>cTg	p.R728L	BACH2_ENST00000537989.1_Missense_Mutation_p.R728L|BACH2_ENST00000343122.3_Missense_Mutation_p.R728L	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	728						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		AGGGCAATACCGATGCAGGGC	0.587000													5	64					8.12818e-05	0.00129777	8.12818e-05	1	0
ABCB7	22	broad.mit.edu	37	X	74288867	74288867	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:74288867C>T	ENST00000253577.3	-	12	1661	c.1637G>A	c.(1636-1638)cGg>cAg	p.R546Q	ABCB7_ENST00000373394.3_Missense_Mutation_p.R545Q|ABCB7_ENST00000339447.4_Missense_Mutation_p.R505Q|ABCB7_ENST00000534570.1_5'UTR	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	545	ABC transporter.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						CACTGCCCTCCGAAGGCTTTC	0.393000													6	164					0	0	0.000157383	0	0
XAB2	56949	broad.mit.edu	37	19	7691126	7691126	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:7691126C>A	ENST00000358368.4	-	5	590	c.553G>T	c.(553-555)Gag>Tag	p.E185*	XAB2_ENST00000534844.1_Nonsense_Mutation_p.E182*	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	185					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						TTGAGGTACTCAATGTACTCC	0.627000								Direct reversal of damage;Nucleotide excision repair (NER)					12	157					5.01169e-05	0.000826736	0.000566183	1	0
LMO3	55885	broad.mit.edu	37	12	16704168	16704168	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:16704168G>C	ENST00000320122.6	-	4	948	c.426C>G	c.(424-426)ccC>ccG	p.P142P	LMO3_ENST00000447609.1_Silent_p.P142P|LMO3_ENST00000534946.1_Silent_p.P142P|LMO3_ENST00000441439.2_Silent_p.P142P|LMO3_ENST00000541846.1_Silent_p.P142P|LMO3_ENST00000540848.1_Silent_p.P142P|LMO3_ENST00000354662.1_Silent_p.P142P|LMO3_ENST00000541295.1_Silent_p.P160P|LMO3_ENST00000540445.1_Silent_p.P164P|LMO3_ENST00000261169.6_Silent_p.P153P|LMO3_ENST00000537304.1_Silent_p.P142P|LMO3_ENST00000535535.1_Silent_p.P142P	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN	LIM domain only 3 (rhombotin-like 2)	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				AGCGAACCTGGGGTGCATAAC	0.373000													4	93					0	0	3.59834e-05	0	0
RIN3	79890	broad.mit.edu	37	14	93151387	93151387	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:93151387C>A	ENST00000216487.7	+	9	2682	c.2523C>A	c.(2521-2523)gaC>gaA	p.D841E	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	841	VPS9.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				AGAGCTACGACAAGATCACGG	0.642000													5	66					8.12818e-05	0.00129777	8.12818e-05	1	0
NCOR1	9611	broad.mit.edu	37	17	16012190	16012190	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:16012190G>T	ENST00000268712.3	-	19	2349	c.2092C>A	c.(2092-2094)Caa>Aaa	p.Q698K	NCOR1_ENST00000395848.1_Missense_Mutation_p.Q589K|NCOR1_ENST00000395851.1_Missense_Mutation_p.Q698K|NCOR1_ENST00000583226.1_5'UTR	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	698					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTTTCACATTGAGACACATCT	0.363000													8	190					0.000673444	0.0084606	0.000673444	1	0
MIA3	375056	broad.mit.edu	37	1	222803135	222803135	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:222803135C>G	ENST00000344922.5	+	4	2598	c.2573C>G	c.(2572-2574)cCt>cGt	p.P858R	MIA3_ENST00000344441.6_Missense_Mutation_p.P858R|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	858					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AACGACAACCCTGAGGAACAT	0.438000													7	399					0	0	8.12818e-05	0	0
CTBS	1486	broad.mit.edu	37	1	85029450	85029450	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:85029450C>A	ENST00000370630.4	-	5	811	c.763G>T	c.(763-765)Ggt>Tgt	p.G255C	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	255						lysosome	cation binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		TAATCATAACCATACCAAGGA	0.323000													8	220					0.000673444	0.0084606	0.000673444	1	0
BDP1	55814	broad.mit.edu	37	5	70818205	70818205	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:70818205G>T	ENST00000358731.4	+	23	5344	c.5081G>T	c.(5080-5082)aGt>aTt	p.S1694I	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1694					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AGAGCACACAGTAAGAAAGAG	0.413000													7	310					0.000274275	0.0038898	0.000274275	1	0
PLEKHH2	130271	broad.mit.edu	37	2	43927713	43927713	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:43927713C>T	ENST00000282406.4	+	8	1726	c.1616C>T	c.(1615-1617)cCt>cTt	p.P539L		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	539						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TACAGCAAACCTCCAACTCCT	0.423000													6	274					0	0	0.000157383	0	0
DDX60	55601	broad.mit.edu	37	4	169158938	169158938	+	Silent	SNP	T	T	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:169158938T>G	ENST00000393743.3	-	31	4464	c.4173A>C	c.(4171-4173)tcA>tcC	p.S1391S		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1391							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GCTTTAGCACTGATAGCACCT	0.328000													3	39					0	0	6.4e-05	0	0
TNKS	8658	broad.mit.edu	37	8	9437722	9437722	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:9437722C>G	ENST00000310430.6	+	2	753	c.727C>G	c.(727-729)Cac>Gac	p.H243D	TNKS_ENST00000518281.1_Missense_Mutation_p.H6D|TNKS_ENST00000520408.1_Missense_Mutation_p.H243D	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	243					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TGCTAATGTCCACGCTCGTGA	0.403000													4	147					0	0	0.00024832	0	0
SF3B6	51639	broad.mit.edu	37	2	24290642	24290642	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:24290642G>T	ENST00000233468.4	-	4	581	c.368C>A	c.(367-369)cCa>cAa	p.P123Q		NM_016047.3	NP_057131.1	Q9Y3B4	PM14_HUMAN		123					nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTATTTTGGTGGATCTGTGTT	0.348000													7	175					2.31682e-05	0.000393952	0.000308642	1	0
RFTN1	23180	broad.mit.edu	37	3	16475363	16475363	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:16475363G>T	ENST00000334133.4	-	3	599	c.327C>A	c.(325-327)acC>acA	p.T109T	RFTN1_ENST00000432519.1_Silent_p.T73T	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	109						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						CTTACCTGTCGGTTTTCTTGA	0.577000													7	203					0.000442599	0.00584094	0.000442599	1	0
CREBBP	1387	broad.mit.edu	37	16	3843402	3843402	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:3843402C>A	ENST00000262367.5	-	4	2010	c.1201G>T	c.(1201-1203)Ggg>Tgg	p.G401W	CREBBP_ENST00000382070.3_Missense_Mutation_p.G401W	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	401	Interaction with SRCAP.				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)		CAGGCTTTCCCAGCCTGACAA	0.483000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						8	157					3.86212e-05	0.000638159	0.000673444	1	0
SYNE1	23345	broad.mit.edu	37	6	152614814	152614814	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:152614814G>A	ENST00000367255.5	-	95	18522	c.17921C>T	c.(17920-17922)tCc>tTc	p.S5974F	SYNE1_ENST00000265368.4_Missense_Mutation_p.S5974F|SYNE1_ENST00000356820.4_Missense_Mutation_p.S498F|SYNE1_ENST00000341594.5_Missense_Mutation_p.S5586F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S5903F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S5903F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5974					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CGTAGAGATGGACTGGAGGGA	0.502000										HNSCC(10;0.0054)			10	69					0	0	0.000442599	0	0
EXOC2	55770	broad.mit.edu	37	6	486758	486758	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:486758C>G	ENST00000230449.4	-	28	2823	c.2688G>C	c.(2686-2688)ctG>ctC	p.L896L	EXOC2_ENST00000448181.3_Silent_p.L491L	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	896					exocytosis|protein transport			p.L896L(2)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GGAGCTCTTCCAGTAACCTGC	0.517000													4	83					0	0	0.00024832	0	0
HIST1H3B	8358	broad.mit.edu	37	6	26032022	26032022	+	Silent	SNP	C	C	G	rs139461801	by1000genomes	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:26032022C>G	ENST00000244661.2	-	1	266	c.267G>C	c.(265-267)gcG>gcC	p.A89A		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	89					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						GCGCCATCACCGCAGAGCTCT	0.552000													4	132					0	0	3.59834e-05	0	0
RD3	343035	broad.mit.edu	37	1	211652404	211652404	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:211652404C>T	ENST00000367002.4	-	3	1725	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K	RD3_ENST00000484910.1_5'UTR	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	188					response to stimulus|visual perception					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		GCCCGGAATTCGGGCATGCTC	0.706000													5	18					0	0	3.59834e-05	0	0
ME1	4199	broad.mit.edu	37	6	84025035	84025035	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:84025035G>A	ENST00000369705.3	-	6	814	c.698C>T	c.(697-699)tCt>tTt	p.S233F	ME1_ENST00000543031.1_Missense_Mutation_p.S158F|ME1_ENST00000541327.1_Missense_Mutation_p.S67F	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	233					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	ATACTTGGAAGAAACTGCCTC	0.308000													16	72					0	0	0.000308642	0	0
AGGF1	55109	broad.mit.edu	37	5	76348552	76348552	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:76348552G>T	ENST00000312916.7	+	9	1769	c.1387G>T	c.(1387-1389)Gac>Tac	p.D463Y		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	463	FHA.				angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		AATTTATTTTGACCATGACTT	0.299000													16	667					8.00594e-06	0.000141038	9.7654e-05	1	0
KIAA2026	158358	broad.mit.edu	37	9	5924689	5924689	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:5924689C>G	ENST00000399933.3	-	7	2654	c.2655G>C	c.(2653-2655)ctG>ctC	p.L885L	KIAA2026_ENST00000381461.2_Silent_p.L855L	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	885										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CCAGGATATCCAGAGGTTCTG	0.378000													5	132					0	0	0.000157383	0	0
RRM1	6240	broad.mit.edu	37	11	4139665	4139665	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:4139665C>A	ENST00000300738.5	+	8	970	c.766C>A	c.(766-768)Cgg>Agg	p.R256R	RRM1_ENST00000534285.1_Silent_p.R34R|RRM1_ENST00000423050.2_Silent_p.R159R|RRM1_ENST00000537197.1_5'UTR	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	256		Allosteric effector binding, determines substrate specificity.			deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	GAGTTGTATTCGGGCTACTGG	0.423000													6	142					3.59834e-05	0.000600898	3.59834e-05	1	0
SPTAN1	6709	broad.mit.edu	37	9	131344084	131344084	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:131344084G>T	ENST00000358161.5	+	12	1598	c.1485G>T	c.(1483-1485)ttG>ttT	p.L495F	SPTAN1_ENST00000372731.4_Missense_Mutation_p.L495F|SPTAN1_ENST00000372739.3_Missense_Mutation_p.L495F			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	495					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ATGAAGACTTGGGAGATTCCT	0.423000													12	287					0.000422831	0.00584094	0.000422831	1	0
NBPF20	100288142	broad.mit.edu	37	1	148342474	148342474	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:148342474G>C	ENST00000369202.1	-	5	759	c.562C>G	c.(562-564)Ccc>Gcc	p.P188A	NBPF20_ENST00000414710.2_Missense_Mutation_p.P188A					neuroblastoma breakpoint family, member 20											breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						TGTTACCTGGGGGCAGATGAT	0.428000													5	361					0	0	0.000157383	0	0
SPATA31A1	647060	broad.mit.edu	37	9	39361078	39361078	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:39361078C>G	ENST00000377647.3	+	4	3345	c.3316C>G	c.(3316-3318)Cct>Gct	p.P1106A		NM_001085452.1	NP_001078921.1			SPATA31 subfamily A, member 1																		AATGTTTCCCCCTATTCACAA	0.478000													5	300					0	0	8.12818e-05	0	0
YEATS4	8089	broad.mit.edu	37	12	69756640	69756640	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:69756640G>C	ENST00000247843.2	+	2	394	c.124G>C	c.(124-126)Ggg>Cgg	p.G42R	YEATS4_ENST00000548020.1_Missense_Mutation_p.G42R	NM_006530.2	NP_006521.1	O95619	YETS4_HUMAN	YEATS domain containing 4	42	YEATS.				histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth	NuA4 histone acetyltransferase complex|nuclear matrix	DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			AGAAGAAGATGGGCACACTCA	0.318000													5	180					0	0	0.000602214	0	0
C20orf26	26074	broad.mit.edu	37	20	20079324	20079324	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:20079324T>C	ENST00000245957.5	+	8	801	c.725T>C	c.(724-726)aTg>aCg	p.M242T	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.M242T|C20orf26_ENST00000377306.1_Missense_Mutation_p.M242T	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	242										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GTTGGGTTCATGAGTGTGTGC	0.448000													8	295					0	0	0.000157383	0	0
IGDCC4	57722	broad.mit.edu	37	15	65703658	65703658	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:65703658C>G	ENST00000352385.2	-	2	330	c.121G>C	c.(121-123)Ggg>Cgg	p.G41R		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	41	Ig-like C2-type 1.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TGCAGTGGCCCCACTCCACAG	0.652000													3	33					0	0	0.00024832	0	0
SMPD1	6609	broad.mit.edu	37	11	6413140	6413140	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:6413140C>A	ENST00000342245.4	+	2	1013	c.845C>A	c.(844-846)cCc>cAc	p.P282H	SMPD1_ENST00000299397.3_Missense_Mutation_p.P282H|SMPD1_ENST00000356761.2_Missense_Mutation_p.P282H|SMPD1_ENST00000527275.1_Missense_Mutation_p.P281H|SMPD1_ENST00000533196.1_Intron	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	280					cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	GGAGACATCCCCGCACATGAT	0.607000													6	106					0.000157383	0.00236471	0.000157383	1	0
PEX3	8504	broad.mit.edu	37	6	143793363	143793363	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:143793363C>A	ENST00000367591.4	+	8	708	c.645C>A	c.(643-645)ctC>ctA	p.L215L		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	215					protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		TCAGAAATCTCGTTGAGCAGC	0.353000													6	147					0.000157383	0.00236471	0.000157383	1	0
CENPA	1058	broad.mit.edu	37	2	27016077	27016077	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:27016077G>C	ENST00000335756.4	+	4	553	c.353G>C	c.(352-354)cGa>cCa	p.R118P	CENPA_ENST00000475662.1_3'UTR|CENPA_ENST00000233505.8_Missense_Mutation_p.R92P	NM_001809.3	NP_001800.1	P49450	CENPA_HUMAN	centromere protein A	118	H3-like.				CenH3-containing nucleosome assembly at centromere|establishment of mitotic spindle orientation|interspecies interaction between organisms|kinetochore assembly|mitotic prometaphase|protein localization to chromosome, centromeric region	condensed nuclear chromosome kinetochore|cytosol|nucleoplasm|nucleosome	chromatin binding|DNA binding|protein binding			endometrium(1)|large_intestine(3)|lung(3)|urinary_tract(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATGCAGGCCGAGTTACTCTC	0.532000													4	187					0	0	0.00024832	0	0
CNKSR3	154043	broad.mit.edu	37	6	154762499	154762499	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:154762499C>G	ENST00000607772.1	-	4	978	c.434G>C	c.(433-435)gGg>gCg	p.G145A	CNKSR3_ENST00000479339.1_Missense_Mutation_p.G65A	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	145	CRIC.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		ATCAGTGATCCCTGTAAACGG	0.458000													6	100					0	0	3.59834e-05	0	0
EPHA3	2042	broad.mit.edu	37	3	89259507	89259507	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:89259507C>G	ENST00000336596.2	+	3	876	c.651C>G	c.(649-651)ccC>ccG	p.P217P	EPHA3_ENST00000494014.1_Silent_p.P217P|EPHA3_ENST00000452448.2_Silent_p.P217P	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	217	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ACACGGTACCCATGGACTCCC	0.478000										TSP Lung(6;0.00050)			4	84					0	0	3.59834e-05	0	0
GOLGA3	2802	broad.mit.edu	37	12	133378402	133378402	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:133378402A>G	ENST00000204726.3	-	8	2309	c.1751T>C	c.(1750-1752)cTg>cCg	p.L584P	GOLGA3_ENST00000537452.1_Missense_Mutation_p.L584P|GOLGA3_ENST00000450791.2_Missense_Mutation_p.L584P|GOLGA3_ENST00000456883.2_Missense_Mutation_p.L584P|GOLGA3_ENST00000545875.1_Missense_Mutation_p.L584P	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	584	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CTCCTGTGCCAGGGCGAGCTG	0.642000													4	87					0	0	0.00024832	0	0
MACC1	346389	broad.mit.edu	37	7	20199780	20199780	+	Nonsense_Mutation	SNP	C	C	T	rs140929570	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:20199780C>T	ENST00000400331.5	-	5	512	c.204G>A	c.(202-204)tgG>tgA	p.W68*	MACC1_ENST00000589011.1_Nonsense_Mutation_p.W68*|MACC1_ENST00000332878.4_Nonsense_Mutation_p.W68*	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	68					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						ACAGTTGATTCCAGAATGGAT	0.378000													14	63					0	0	0.000566183	0	0
DNAJC12	56521	broad.mit.edu	37	10	69565372	69565372	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:69565372C>A	ENST00000225171.2	-	4	623	c.471G>T	c.(469-471)aaG>aaT	p.K157N	DNAJC12_ENST00000483798.2_Missense_Mutation_p.K187N	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 12	157					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						GGGAGACTGACTTCTCTAGGG	0.403000													10	230					2.27111e-07	4.26548e-06	0.00010058	1	0
KIF6	221458	broad.mit.edu	37	6	39545920	39545920	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:39545920G>T	ENST00000287152.7	-	10	1187	c.1093C>A	c.(1093-1095)Caa>Aaa	p.Q365K	KIF6_ENST00000538893.1_Missense_Mutation_p.Q365K|KIF6_ENST00000373216.3_Missense_Mutation_p.Q365K|KIF6_ENST00000373215.3_Missense_Mutation_p.Q365K|KIF6_ENST00000373213.4_Missense_Mutation_p.Q204K	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	365					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ATTTCCTTTTGTAGGCGTTTA	0.448000													5	143					0.000157383	0.00236471	0.000157383	1	0
TEX29	121793	broad.mit.edu	37	13	111996452	111996452	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:111996452C>G	ENST00000283547.1	+	6	567	c.438C>G	c.(436-438)gcC>gcG	p.A146A		NM_152324.1	NP_689537.1	Q8N6K0	CM016_HUMAN	testis expressed 29	146						integral to membrane											TAACAGAAGCCGAAGAAACTG	0.383000													4	115					0	0	0.00024832	0	0
LEO1	123169	broad.mit.edu	37	15	52239498	52239498	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:52239498G>C	ENST00000299601.5	-	11	1947	c.1887C>G	c.(1885-1887)acC>acG	p.T629T	LEO1_ENST00000315141.5_Silent_p.T569T	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	629					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		CCTCATCACTGGTAAGTTTCT	0.408000													4	137					0	0	3.59834e-05	0	0
HSD17B13	345275	broad.mit.edu	37	4	88238266	88238266	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:88238266A>G	ENST00000328546.4	-	3	492	c.428T>C	c.(427-429)gTc>gCc	p.V143A	HSD17B13_ENST00000302219.6_Missense_Mutation_p.V107A	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	143						extracellular region	binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TAGGATGTTGACCTCAAATGT	0.413000													4	108					0	0	0.00024832	0	0
YTHDC2	64848	broad.mit.edu	37	5	112915282	112915282	+	Splice_Site	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:112915282G>T	ENST00000161863.4	+	24	3457		c.e24-1			NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2								ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TACTTGGACAGTGGATGGCAT	0.373000													8	173					1.58986e-06	2.89309e-05	0.000673444	1	0
BAZ2B	29994	broad.mit.edu	37	2	160289875	160289875	+	Splice_Site	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:160289875C>A	ENST00000392783.2	-	9	1789		c.e9-1		BAZ2B_ENST00000343439.5_Splice_Site|BAZ2B_ENST00000392782.1_Splice_Site|BAZ2B_ENST00000355831.2_Splice_Site	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TATATTGTTCCTGTTGAAACA	0.318000													7	123					8.12818e-05	0.00129777	8.12818e-05	1	0
XIST	7503	broad.mit.edu	37	X	73064955	73064955	+	RNA	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:73064955C>G	ENST00000429829.1	-	0	7633					NR_001564.2																						CATTTATGTCCAAGGTGCATG	0.478000													4	204					0	0	8.12818e-05	0	0
GFPT1	2673	broad.mit.edu	37	2	69575318	69575318	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:69575318G>T	ENST00000357308.4	-	11	1172	c.994C>A	c.(994-996)Cag>Aag	p.Q332K	GFPT1_ENST00000361060.4_Missense_Mutation_p.Q314K	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	332					dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	p.Q314*(1)		endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						ATGATCTGCTGGAGTTCCATC	0.423000													6	122					0.000274275	0.0038898	0.000274275	1	0
UNC5C	8633	broad.mit.edu	37	4	96163628	96163628	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:96163628C>G	ENST00000453304.1	-	7	1408	c.1060G>C	c.(1060-1062)Ggc>Cgc	p.G354R	UNC5C_ENST00000506749.1_Missense_Mutation_p.G354R	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	354	TSP type-1 2.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AAGACGAGGCCGTCGCAGTCC	0.557000													4	47					0	0	0.000157383	0	0
MYH6	4624	broad.mit.edu	37	14	23871732	23871732	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:23871732C>A	ENST00000405093.3	-	12	1152	c.1082G>T	c.(1081-1083)gGg>gTg	p.G361V	MYH6_ENST00000356287.3_Missense_Mutation_p.G361V	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	361	Myosin head-like.				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)		CTTCATGTTCCCGTAGTGCAT	0.612000													7	145					3.86212e-05	0.000638159	0.000673444	1	0
ARL13A	392509	broad.mit.edu	37	X	100229165	100229165	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:100229165C>T	ENST00000450049.2	+	3	222	c.109C>T	c.(109-111)Ctt>Ttt	p.L37F		NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A	37							GTP binding			endometrium(1)|ovary(1)	2						CAAAACTGTTCTTGTGGAGGC	0.413000													8	29					0	0	6.40141e-05	0	0
TAPT1	202018	broad.mit.edu	37	4	16189881	16189881	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:16189881C>G	ENST00000405303.2	-	5	793	c.710G>C	c.(709-711)gGg>gCg	p.G237A	TAPT1_ENST00000508888.1_5'UTR|TAPT1_ENST00000399920.3_Missense_Mutation_p.G126A|TAPT1_ENST00000304584.8_Splice_Site_p.G63_splice	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	237						integral to membrane	growth hormone-releasing hormone receptor activity			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						AGGAATCACCCCAATGTGGGC	0.383000													5	164					0	0	8.12818e-05	0	0
NUP85	79902	broad.mit.edu	37	17	73208138	73208138	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:73208138G>C	ENST00000245544.4	+	4	413	c.342G>C	c.(340-342)gaG>gaC	p.E114D	NUP85_ENST00000579324.1_Missense_Mutation_p.E2D|NUP85_ENST00000579298.1_Missense_Mutation_p.E114D|NUP85_ENST00000447371.2_5'UTR|NUP85_ENST00000541827.1_Missense_Mutation_p.E68D|NUP85_ENST00000449421.2_3'UTR	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	114					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CATGTATGGAGGAAATGCACC	0.423000													4	42					0	0	0.00024832	0	0
TRPA1	8989	broad.mit.edu	37	8	72936118	72936118	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:72936118C>G	ENST00000262209.4	-	26	3287	c.3080G>C	c.(3079-3081)gGg>gCg	p.G1027A	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	1027						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TCTTATTTCCCCAGTGCAAAA	0.299000													4	155					0	0	3.59834e-05	0	0
PSMC3	5702	broad.mit.edu	37	11	47446202	47446202	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:47446202G>C	ENST00000298852.3	-	4	503	c.346C>G	c.(346-348)Cag>Gag	p.Q116E	PSMC3_ENST00000530912.1_Missense_Mutation_p.Q74E|PSMC3_ENST00000602866.1_Missense_Mutation_p.Q100E	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	116					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCCTTCCTCTGGGAGTCCAGG	0.527000													4	114					0	0	0.000157383	0	0
PRIMPOL	201973	broad.mit.edu	37	4	185606819	185606819	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:185606819C>A	ENST00000314970.6	+	11	1709	c.1276C>A	c.(1276-1278)Cat>Aat	p.H426N	CCDC111_ENST00000503752.1_Missense_Mutation_p.H426N|CCDC111_ENST00000515774.1_Missense_Mutation_p.H297N|CCDC111_ENST00000512834.1_Missense_Mutation_p.H425N	NM_152683.2	NP_689896.1	Q96LW4	CC111_HUMAN		426					DNA replication, synthesis of RNA primer		DNA primase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2)	16		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)		TGGAAGAGCCCATAAGAGTAA	0.269000													10	161					6.40141e-05	0.00104902	6.40141e-05	1	0
RTTN	25914	broad.mit.edu	37	18	67872519	67872519	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:67872519G>T	ENST00000255674.6	-	2	350	c.64C>A	c.(64-66)Ctc>Atc	p.L22I	RTTN_ENST00000454359.1_Missense_Mutation_p.L22I|RTTN_ENST00000437017.1_Missense_Mutation_p.L22I	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	22							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ATACTCTTGAGAGCGCGCTCC	0.443000													11	207					2.31682e-05	0.000393952	0.000308642	1	0
ADAM33	80332	broad.mit.edu	37	20	3655714	3655714	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:3655714C>A	ENST00000356518.2	-	4	534	c.293G>T	c.(292-294)gGc>gTc	p.G98V	ADAM33_ENST00000379861.4_Missense_Mutation_p.G98V|ADAM33_ENST00000350009.2_Missense_Mutation_p.G98V	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	98					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CCCATCTGGGCCGTAGTGGGT	0.607000													6	79					0.000673444	0.0084606	0.000673444	1	0
DNAH10	196385	broad.mit.edu	37	12	124382382	124382382	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:124382382C>A	ENST00000409039.3	+	54	9017	c.8992C>A	c.(8992-8994)Caa>Aaa	p.Q2998K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2998	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTTGGTTCACCAATCCGTGGA	0.388000													7	96					0.000157383	0.00236471	0.000157383	1	0
KIAA1191	57179	broad.mit.edu	37	5	175774960	175774960	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:175774960G>A	ENST00000298569.4	-	8	1206	c.673C>T	c.(673-675)Ctc>Ttc	p.L225F	KIAA1191_ENST00000510164.1_Missense_Mutation_p.L225F|RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000393725.2_Missense_Mutation_p.L206F|KIAA1191_ENST00000393728.2_5'UTR	NM_020444.3	NP_065177.2	Q96A73	K1191_HUMAN	KIAA1191	225				L -> P (in Ref. 3; CAG33612).			protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		GGTCCAAAGAGGCTCCACTTA	0.483000													7	151					0	0	0.000274275	0	0
MUC5B	727897	broad.mit.edu	37	11	1270354	1270354	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:1270354C>G	ENST00000447027.1	+	31	12311	c.12253C>G	c.(12253-12255)Cca>Gca	p.P4085A	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.P4082A			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4082	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCCCCTTCCCCAGGGACGAC	0.701000													4	104					0	0	0.000157383	0	0
DHX34	9704	broad.mit.edu	37	19	47876076	47876076	+	Missense_Mutation	SNP	C	C	G	rs140955733		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:47876076C>G	ENST00000328771.4	+	8	2207	c.1858C>G	c.(1858-1860)Cgc>Ggc	p.R620G		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	620						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GCCCTTCACCCGCAGCGCCCA	0.667000													4	31					0	0	8.12818e-05	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140745299	140745299	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:140745299G>A	ENST00000518069.1	+	1	1402	c.1402G>A	c.(1402-1404)Ggt>Agt	p.G468S	PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATCCCAGAGGTGTCTCTAT	0.537000													17	196					0	0	0.000422831	0	0
GBX2	2637	broad.mit.edu	37	2	237074763	237074763	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:237074763C>A	ENST00000306318.4	-	2	1238	c.841G>T	c.(841-843)Gcc>Tcc	p.A281S	GBX2_ENST00000465889.1_5'UTR|GBX2_ENST00000551105.1_3'UTR	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	281						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		AGGGCGTGGGCGATCTGCGAG	0.597000													5	124					8.12818e-05	0.00129777	8.12818e-05	1	0
DSC2	1824	broad.mit.edu	37	18	28662900	28662900	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:28662900G>A	ENST00000280904.6	-	8	1512	c.1069C>T	c.(1069-1071)Cgt>Tgt	p.R357C	DSC2_ENST00000251081.6_Missense_Mutation_p.R357C	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	357	Cadherin 3.				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)			ACAGAAGTACGAGTAAATGTT	0.358000													6	51					0	0	3.59834e-05	0	0
CACNA1B	774	broad.mit.edu	37	9	140870416	140870416	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:140870416A>G	ENST00000371372.1	+	12	1746	c.1601A>G	c.(1600-1602)tAt>tGt	p.Y534C	CACNA1B_ENST00000371363.1_Missense_Mutation_p.Y534C|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371357.1_Missense_Mutation_p.Y535C|CACNA1B_ENST00000371355.4_Missense_Mutation_p.Y535C|CACNA1B_ENST00000277551.2_Missense_Mutation_p.Y534C	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	534					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTGAAGATGTATGGCCTGGGG	0.552000													3	38					0	0	6.4e-05	0	0
CEACAM16	388551	broad.mit.edu	37	19	45206701	45206701	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:45206701C>T	ENST00000587331.1	+	3	335	c.120C>T	c.(118-120)gtC>gtT	p.V40V	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Silent_p.V40V	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	40										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				TCACGCTGGTCGTCCATGGGC	0.622000													16	169					0	0	0.000422831	0	0
PTH2R	5746	broad.mit.edu	37	2	209302574	209302574	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:209302574C>T	ENST00000272847.2	+	4	592	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	127						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		AGACTGCCTTCGCTTTCTGCA	0.378000													7	71					0	0	0.000157383	0	0
TDP1	55775	broad.mit.edu	37	14	90450897	90450897	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:90450897G>T	ENST00000335725.4	+	9	1172	c.922G>T	c.(922-924)Gga>Tga	p.G308*	TDP1_ENST00000357382.3_Nonsense_Mutation_p.G69*|TDP1_ENST00000393452.3_Nonsense_Mutation_p.G308*|TDP1_ENST00000555880.1_Nonsense_Mutation_p.G308*|TDP1_ENST00000393454.2_Nonsense_Mutation_p.G308*	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	308					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		AATTGCTGATGGAACCCACAA	0.403000								Repair of DNA-protein crosslinks					8	148					3.07112e-06	5.5112e-05	6.40141e-05	1	0
SARS	6301	broad.mit.edu	37	1	109779064	109779064	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:109779064C>T	ENST00000369923.4	+	9	1162	c.1151C>T	c.(1150-1152)cCg>cTg	p.P384L	SARS_ENST00000468588.1_3'UTR|SARS_ENST00000234677.2_Missense_Mutation_p.P384L			P49591	SYSC_HUMAN	seryl-tRNA synthetase	384					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	GCCTGGTTTCCGGGCTCAGGA	0.498000													7	292					0	0	0.000274275	0	0
COL7A1	1294	broad.mit.edu	37	3	48614335	48614335	+	Silent	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:48614335T>C	ENST00000328333.8	-	66	5693	c.5586A>G	c.(5584-5586)tcA>tcG	p.S1862S	COL7A1_ENST00000454817.1_Silent_p.S1862S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1862	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.S1862S(1)		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)		CAGAGGCGCCTGAATCTCCTT	0.542000													4	114					0	0	0.00024832	0	0
CBX7	23492	broad.mit.edu	37	22	39534694	39534694	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:39534694G>T	ENST00000216133.5	-	4	398	c.193C>A	c.(193-195)Cga>Aga	p.R65R	RP4-742C19.8_ENST00000430647.1_RNA|CBX7_ENST00000475962.1_Intron|CBX7_ENST00000401405.3_Silent_p.R65R	NM_175709.3	NP_783640.1	O95931	CBX7_HUMAN	chromobox homolog 7	65	Chromo.				chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					CCCGATGCTCGGTCTCTCTCC	0.592000													4	64					0.000157383	0.00236471	0.000157383	1	0
FAR2	55711	broad.mit.edu	37	12	29464850	29464850	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:29464850G>C	ENST00000182377.4	+	8	1190	c.922G>C	c.(922-924)Ggt>Cgt	p.G308R	FAR2_ENST00000536681.2_Missense_Mutation_p.G308R|RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000547116.1_Missense_Mutation_p.G211R	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	308					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CATTACATCTGGTAACATGAA	0.323000													4	42					0	0	0.000157383	0	0
SMC1B	27127	broad.mit.edu	37	22	45749929	45749929	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:45749929G>C	ENST00000357450.4	-	21	3201	c.3202C>G	c.(3202-3204)Cag>Gag	p.Q1068E	SMC1B_ENST00000404354.3_Missense_Mutation_p.Q1068E	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	1068					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCAAAACACTGGGTGAAAAGA	0.413000													6	134					0	0	0.000157383	0	0
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284000													5	183					0	0	0.000602214	0	0
ATP2A3	489	broad.mit.edu	37	17	3839694	3839694	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:3839694C>G	ENST00000309890.7	-	16	2541	c.2391G>C	c.(2389-2391)ctG>ctC	p.L797L	ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000352011.3_Silent_p.L797L|ATP2A3_ENST00000397035.3_Silent_p.L797L|ATP2A3_ENST00000397043.3_Silent_p.L797L|ATP2A3_ENST00000397041.3_Silent_p.L797L|ATP2A3_ENST00000359983.3_Silent_p.L797L	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	797					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CGTCTGTCACCAGGTTCACCC	0.627000													4	99					0	0	0.000157383	0	0
CEP164	22897	broad.mit.edu	37	11	117280347	117280347	+	Silent	SNP	G	G	T	rs142802684		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:117280347G>T	ENST00000278935.3	+	30	3909	c.3762G>T	c.(3760-3762)ccG>ccT	p.P1254P	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1254					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		p.P1254P(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		ACTCAACCCCGAGTCTCACCT	0.592000													6	146					9.70103e-10	1.89354e-08	0.000673444	1	0
WNK1	65125	broad.mit.edu	37	12	978124	978124	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:978124G>T	ENST00000537687.1	+	9	3875	c.3232G>T	c.(3232-3234)Ggc>Tgc	p.G1078C	WNK1_ENST00000340908.4_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.G1163C|WNK1_ENST00000574564.1_Missense_Mutation_p.G377C|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000535572.1_Intron	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	828					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TGCACCTTTTGGCTCTGACGT	0.498000													10	270					1.05317e-09	2.05434e-08	0.000219431	1	0
C8orf22	492307	broad.mit.edu	37	8	49985411	49985411	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:49985411G>T	ENST00000303202.8	+	2	195	c.22G>T	c.(22-24)Ggt>Tgt	p.G8C	C8orf22_ENST00000517663.1_Missense_Mutation_p.G8C|C8orf22_ENST00000399653.4_Missense_Mutation_p.G8C|C8orf22_ENST00000522267.1_Missense_Mutation_p.G8C	NM_001256598.1	NP_001243527.1	Q8WWR9	PDPFL_HUMAN	chromosome 8 open reading frame 22	8										large_intestine(1)|lung(7)|prostate(1)	9		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				ACCTTCCATTGGTTGCCTTCT	0.418000													8	127					6.40141e-05	0.00104902	6.40141e-05	1	0
FRYL	285527	broad.mit.edu	37	4	48588657	48588657	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:48588657G>C	ENST00000537810.1	-	19	2333	c.1729C>G	c.(1729-1731)Ctg>Gtg	p.L577V	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000506685.1_Missense_Mutation_p.L283V|FRYL_ENST00000503238.1_Missense_Mutation_p.L577V|FRYL_ENST00000507711.1_Missense_Mutation_p.L577V|FRYL_ENST00000358350.4_Missense_Mutation_p.L577V			O94915	FRYL_HUMAN	FRY-like	577					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AATTCAATCAGGTCAGTTCTG	0.348000													4	106					0	0	0.00024832	0	0
FAM160B1	57700	broad.mit.edu	37	10	116593056	116593056	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:116593056G>C	ENST00000369248.4	+	3	524	c.189G>C	c.(187-189)ctG>ctC	p.L63L	FAM160B1_ENST00000369250.3_Silent_p.L63L|FAM160B1_ENST00000369246.1_Silent_p.L63L	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	63										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TAGATATACTGGTTCAAGAAG	0.358000													4	100					0	0	0.00024832	0	0
DPP8	54878	broad.mit.edu	37	15	65748614	65748614	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:65748614C>G	ENST00000341861.5	-	16	3695	c.2115G>C	c.(2113-2115)agG>agC	p.R705S	DPP8_ENST00000339244.5_Missense_Mutation_p.R532S|DPP8_ENST00000559233.1_Missense_Mutation_p.R705S|DPP8_ENST00000321118.7_Intron|DPP8_ENST00000321147.6_Missense_Mutation_p.R705S|DPP8_ENST00000300141.6_Missense_Mutation_p.R689S|DPP8_ENST00000358939.4_Intron	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	705					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GACAGGATCCCCTGTTGTCTA	0.403000													4	145					0	0	0.00024832	0	0
ZNF468	90333	broad.mit.edu	37	19	53352429	53352429	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:53352429G>T	ENST00000595646.1	-	3	173	c.53C>A	c.(52-54)tCt>tAt	p.S18Y	ZNF468_ENST00000243639.4_Missense_Mutation_p.S18Y|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000396409.4_5'UTR|ZNF468_ENST00000390651.4_5'UTR			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	18	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		CTCCTCCTGAGAGAATTCTAT	0.443000													13	295					3.52763e-06	6.31522e-05	0.000566183	1	0
ENPP3	5169	broad.mit.edu	37	6	132067980	132067980	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:132067980C>G	ENST00000414305.1	+	26	2840	c.2512C>G	c.(2512-2514)Cgg>Ggg	p.R838G	ENPP3_ENST00000358229.5_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.R838G			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	838	Nuclease.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TCACATTGCCCGGGTCCGTGA	0.393000													4	99					0	0	0.00024832	0	0
ARL6IP1	23204	broad.mit.edu	37	16	18810081	18810081	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:18810081G>T	ENST00000304414.7	-	2	323	c.112C>A	c.(112-114)Cga>Aga	p.R38R	ARL6IP1_ENST00000546206.2_Silent_p.R9R|RP11-1035H13.3_ENST00000567078.2_Silent_p.R38R|ARL6IP1_ENST00000562819.1_Silent_p.R38R	NM_015161.1	NP_055976.1	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting protein 1	38						integral to membrane	protein binding			breast(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)	11						CTTTCCCATCGGAGGACTTTA	0.458000													6	144					0.000274275	0.0038898	0.000274275	1	0
SLC9C2	284525	broad.mit.edu	37	1	173552678	173552678	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:173552678G>A	ENST00000367714.3	-	6	1029	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W	SLC9C2_ENST00000536496.1_Missense_Mutation_p.R101W|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	203					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										CTGTTGCCCCGAAAATTTCCA	0.284000													17	146					0	0	0.000175454	0	0
SLC20A1	6574	broad.mit.edu	37	2	113420472	113420472	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:113420472G>C	ENST00000272542.3	+	11	2449	c.1910G>C	c.(1909-1911)cGg>cCg	p.R637P		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	637					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						GGCTGGCTCCGGTCCAAGAAG	0.498000													4	85					0	0	3.59834e-05	0	0
LRP1	4035	broad.mit.edu	37	12	57569780	57569780	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:57569780C>A	ENST00000243077.3	+	24	4348	c.3882C>A	c.(3880-3882)ccC>ccA	p.P1294P		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1294					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCCTGGTGCCCGGCCTGCGCA	0.602000											OREG0021937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	103					0.000157383	0.00236471	0.000157383	1	0
GRIN2B	2904	broad.mit.edu	37	12	13716160	13716160	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:13716160G>T	ENST00000279593.3	-	13	4221	c.4012C>A	c.(4012-4014)Cac>Aac	p.H1338N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1338					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCAAACATGTGGGCGTAGGGG	0.612000													7	82					0.000274275	0.0038898	0.000274275	1	0
ACSM2B	348158	broad.mit.edu	37	16	20563466	20563466	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:20563466C>T	ENST00000329697.6	-	6	1062	c.894_splice	c.e6+1	p.K298_splice	ACSM2B_ENST00000565322.1_Splice_Site_p.K219_splice|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Splice_Site_p.K298_splice|ACSM2B_ENST00000565232.1_Splice_Site_p.K298_splice	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	298					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCTCTCTTACCTTTAGAATAA	0.393000													13	76					0	0	0.000308642	0	0
TRIM59	286827	broad.mit.edu	37	3	160156437	160156437	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:160156437G>T	ENST00000543469.1	-	2	749	c.535C>A	c.(535-537)Caa>Aaa	p.Q179K	TRIM59_ENST00000309784.4_Missense_Mutation_p.Q179K|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.Q179K			Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	179						integral to membrane|intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTATCGCCTTGGATCATTTTC	0.368000													8	190					1.12685e-05	0.000195397	0.000274275	1	0
RPGRIP1L	23322	broad.mit.edu	37	16	53730178	53730178	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:53730178G>C	ENST00000262135.4	-	3	208	c.115C>G	c.(115-117)Cgc>Ggc	p.R39G	RPGRIP1L_ENST00000566096.1_Missense_Mutation_p.R39G|RPGRIP1L_ENST00000568653.3_Missense_Mutation_p.R39G|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.R39G|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R39G|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R39G	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	39					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				ACTGCCTGGCGAGACTTCATT	0.393000													8	568					0	0	0.000442599	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887546	12887546	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:12887546C>T	ENST00000535591.1	-	3	506	c.311G>A	c.(310-312)cGg>cAg	p.R104Q		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	104										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CAAGGGCTGCCGTTCTCTCAT	0.493000													7	286					0	0	8.12818e-05	0	0
USP37	57695	broad.mit.edu	37	2	219350454	219350454	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:219350454C>G	ENST00000258399.3	-	16	2015	c.1603G>C	c.(1603-1605)Gag>Cag	p.E535Q	USP37_ENST00000418019.1_Missense_Mutation_p.E535Q|USP37_ENST00000475553.1_5'UTR|USP37_ENST00000415516.1_Missense_Mutation_p.E463Q|USP37_ENST00000454775.1_Missense_Mutation_p.E535Q	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	535					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		CAAGAATACTCCAGTTCTTCG	0.328000													6	256					0	0	8.12818e-05	0	0
ZNF28	7576	broad.mit.edu	37	19	53302973	53302973	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:53302973G>T	ENST00000438150.2	-	2	2859	c.1966C>A	c.(1966-1968)Cat>Aat	p.H656N	ZNF28_ENST00000457749.2_Missense_Mutation_p.H709N|ZNF28_ENST00000360272.4_Missense_Mutation_p.H656N|ZNF28_ENST00000414252.2_Missense_Mutation_p.H656N			P17035	ZNF28_HUMAN	zinc finger protein 28	709					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		AGTCTATGATGGTATACAAGG	0.418000													7	154					8.12818e-05	0.00129777	8.12818e-05	1	0
PDK3	5165	broad.mit.edu	37	X	24549804	24549804	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:24549804C>A	ENST00000441463.2	+	10	994	c.994C>A	c.(994-996)Cgt>Agt	p.R332S	PDK3_ENST00000379162.4_Missense_Mutation_p.R332S	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	332	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GCCAATTTCCCGTCTGTATGC	0.368000													6	182					0.000274275	0.0038898	0.000274275	1	0
TRIM22	10346	broad.mit.edu	37	11	5719768	5719768	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:5719768T>C	ENST00000379965.3	+	4	1020	c.743T>C	c.(742-744)aTg>aCg	p.M248T	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	248					immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TCAGTAGAGATGCTGCAGGTA	0.542000													6	34					0	0	3.59834e-05	0	0
TJP1	7082	broad.mit.edu	37	15	30010269	30010269	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:30010269G>A	ENST00000346128.6	-	22	4404	c.3930C>T	c.(3928-3930)ccC>ccT	p.P1310P	TJP1_ENST00000545208.2_Silent_p.P1230P|TJP1_ENST00000356107.6_Silent_p.P1310P|TJP1_ENST00000400011.2_Silent_p.P1234P	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1310					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TCTGAGAAGTGGGTTTGGGAC	0.388000													6	323					0	0	0.000157383	0	0
MAPKAP1	79109	broad.mit.edu	37	9	128201177	128201177	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:128201177C>G	ENST00000265960.3	-	12	1890	c.1558G>C	c.(1558-1560)Ggg>Cgg	p.G520R	MAPKAP1_ENST00000373498.1_Missense_Mutation_p.G520R|MAPKAP1_ENST00000373497.5_Missense_Mutation_p.G233R|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.G473R|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.G328R|MAPKAP1_ENST00000483937.1_5'UTR|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.G484R|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.G328R	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	520	Interaction with ATF2.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						CACTGCTGCCCGGATTTCTTC	0.562000													4	117					0	0	3.59834e-05	0	0
ATP2A2	488	broad.mit.edu	37	12	110780039	110780039	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:110780039G>T	ENST00000395494.2	+	14	2586	c.2023G>T	c.(2023-2025)Gat>Tat	p.D675Y	ATP2A2_ENST00000308664.6_Missense_Mutation_p.D702Y|ATP2A2_ENST00000539276.2_Missense_Mutation_p.D702Y			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	702			F -> S (in DD; multiple neuropsychiatric features).		ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TCAGACTGGCGATGGCGTGAA	0.547000													6	94					7.48243e-07	1.3784e-05	0.000442599	1	0
TMEM150C	441027	broad.mit.edu	37	4	83411274	83411274	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:83411274G>A	ENST00000449862.2	-	7	799	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	TMEM150C_ENST00000515780.1_Missense_Mutation_p.R161W|TMEM150C_ENST00000508701.1_3'UTR	NM_001080506.1	NP_001073975.1	B9EJG8	T150C_HUMAN	transmembrane protein 150C	161						integral to membrane				ovary(1)	1						CCAACTCTCCGTCCTTCATTC	0.468000													7	100					0	0	8.12818e-05	0	0
RBM19	9904	broad.mit.edu	37	12	114377953	114377953	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:114377953G>A	ENST00000545145.2	-	15	1828	c.1750C>T	c.(1750-1752)Cga>Tga	p.R584*	RBM19_ENST00000392561.3_Nonsense_Mutation_p.R584*|RBM19_ENST00000261741.5_Nonsense_Mutation_p.R584*	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	584					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GTCTTGCTTCGCTCTGCTGCA	0.632000													6	96					0	0	3.59834e-05	0	0
RP11-337C18.8	0	broad.mit.edu	37	1	146650720	146650720	+	RNA	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:146650720C>G	ENST00000607149.1	+	0	350																											GAGGATTTCTCGCGTGATGGG	0.468000													7	214					0	0	0.000673444	0	0
TTC19	54902	broad.mit.edu	37	17	15906112	15906112	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:15906112C>A	ENST00000261647.5	+	4	898	c.429C>A	c.(427-429)gcC>gcA	p.A143A	TTC19_ENST00000486880.2_Silent_p.A264A|TTC19_ENST00000497842.2_3'UTR	NM_017775.3	NP_060245.3	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	143					cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding			central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTCAGATGGCCAACTTAGCAT	0.313000													10	229					1.99824e-07	3.76484e-06	0.000566183	1	0
PCDHB3	56132	broad.mit.edu	37	5	140480503	140480503	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:140480503G>A	ENST00000231130.2	+	1	270	c.270G>A	c.(268-270)ttG>ttA	p.L90L	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		90	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGAGAAATTGGACCGGGAGG	0.488000													16	143					0	0	0.000566183	0	0
LPO	4025	broad.mit.edu	37	17	56326425	56326425	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:56326425C>G	ENST00000262290.4	+	5	646	c.330C>G	c.(328-330)ccC>ccG	p.P110P	LPO_ENST00000582328.1_Silent_p.P27P|LPO_ENST00000543544.1_Silent_p.P51P|LPO_ENST00000421678.2_Silent_p.P27P	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	110					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TTTCAGATCCCAGCCTGGACT	0.582000													4	122					0	0	3.59834e-05	0	0
TANGO6	79613	broad.mit.edu	37	16	69007972	69007972	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:69007972C>T	ENST00000261778.1	+	15	2755	c.2743C>T	c.(2743-2745)Ccg>Tcg	p.P915S		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		GAAAATCTTGCCGGACTTGTT	0.453000													4	24					0	0	0.00024832	0	0
UBR4	23352	broad.mit.edu	37	1	19423029	19423029	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:19423029G>A	ENST00000375267.2	-	92	13509	c.13506C>T	c.(13504-13506)cgC>cgT	p.R4502R	UBR4_ENST00000375254.3_Silent_p.R4502R|UBR4_ENST00000375226.2_Silent_p.R4478R|UBR4_ENST00000375217.2_Silent_p.R4495R|UBR4_ENST00000375224.1_Silent_p.R209R|UBR4_ENST00000467272.2_5'UTR|UBR4_ENST00000543981.1_Silent_p.R166R|UBR4_ENST00000429347.2_Silent_p.R65R			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4502					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTAGAAGGTGGCGTCCCTGCT	0.537000													14	125					0	0	0.000308642	0	0
CD33	945	broad.mit.edu	37	19	51738425	51738425	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:51738425C>T	ENST00000436584.2	+	4	433	c.378C>T	c.(376-378)acC>acT	p.T126T	CD33_ENST00000421133.2_Silent_p.T126T|CD33_ENST00000391796.3_Silent_p.T253T|CD33_ENST00000262262.4_Silent_p.T253T			P20138	CD33_HUMAN	CD33 molecule	253	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	AACAAGAGACCAGAGCAGGAG	0.483000													5	92					0	0	3.59834e-05	0	0
C14orf166	51637	broad.mit.edu	37	14	52460481	52460481	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:52460481G>C	ENST00000261700.3	+	3	392	c.227G>C	c.(226-228)cGa>cCa	p.R76P	C14orf166_ENST00000556760.1_Missense_Mutation_p.R76P	NM_016039.2	NP_057123.1	Q9Y224	CN166_HUMAN	chromosome 14 open reading frame 166	76						microtubule organizing center|nucleus|perinuclear region of cytoplasm|tRNA-splicing ligase complex	identical protein binding			endometrium(1)|large_intestine(3)|lung(2)	6	Breast(41;0.0639)|all_epithelial(31;0.101)					ATTCAAGATCGACAAGAAGCT	0.368000													4	115					0	0	0.000157383	0	0
POLR3E	55718	broad.mit.edu	37	16	22343420	22343420	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:22343420C>G	ENST00000299853.5	+	20	2151	c.1984C>G	c.(1984-1986)Cgg>Ggg	p.R662G	POLR3E_ENST00000564209.1_Intron|POLR3E_ENST00000359210.4_Intron|POLR3E_ENST00000418581.2_Missense_Mutation_p.R626G	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	662					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		CAAAAATTACCGGGTACGCCG	0.398000													4	126					0	0	0.00024832	0	0
SLC35B3	51000	broad.mit.edu	37	6	8417174	8417174	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:8417174C>A	ENST00000379660.4	-	9	1377	c.928G>T	c.(928-930)Gga>Tga	p.G310*		NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3	310					transmembrane transport	Golgi membrane|integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					AAGGAGATTCCAAAATATCCA	0.343000													6	127					0.000442599	0.00584094	0.000442599	1	0
ZNF702P	79986	broad.mit.edu	37	19	53472914	53472914	+	RNA	SNP	A	A	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:53472914A>G	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							TTTGATTTTCAATTAAAAACC	0.338000													5	74					0	0	8.12818e-05	0	0
RNF208	727800	broad.mit.edu	37	9	140114995	140114995	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:140114995C>G	ENST00000392827.1	-	2	838	c.670G>C	c.(670-672)Ggg>Cgg	p.G224R	RNF208_ENST00000391553.1_Missense_Mutation_p.G224R			Q9H0X6	RN208_HUMAN	ring finger protein 208	224							zinc ion binding			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CACTGACCCCCGGATGGGGCC	0.701000													3	13					0	0	6.4e-05	0	0
COG6	57511	broad.mit.edu	37	13	40293484	40293484	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:40293484C>G	ENST00000416691.1	+	14	1496	c.1396C>G	c.(1396-1398)Cgt>Ggt	p.R466G	COG6_ENST00000455146.3_Missense_Mutation_p.R466G	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	466					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		ATTAGATGCTCGTCAAGCTGA	0.358000													4	40					0	0	0.00024832	0	0
TRIM55	84675	broad.mit.edu	37	8	67086803	67086803	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:67086803C>A	ENST00000315962.4	+	10	1995	c.1622C>A	c.(1621-1623)tCc>tAc	p.S541Y	TRIM55_ENST00000276573.7_3'UTR|TRIM55_ENST00000353317.5_Missense_Mutation_p.S445Y|TRIM55_ENST00000350034.4_Missense_Mutation_p.S234Y	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	541						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TTCTCCTTTTCCTGGTTGAAC	0.532000													10	100					7.03913e-09	1.36149e-07	0.00010058	1	0
KNSTRN	90417	broad.mit.edu	37	15	40684200	40684200	+	Silent	SNP	C	C	A	rs34675294		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:40684200C>A	ENST00000416151.2	+	8	913	c.798C>A	c.(796-798)gcC>gcA	p.A266A	KNSTRN_ENST00000249776.8_Silent_p.A266A|KNSTRN_ENST00000448395.2_3'UTR	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein																		ACGAAACAGCCAAAAAGCAGA	0.393000													8	202					0.000673444	0.0084606	0.000673444	1	0
EGFLAM	133584	broad.mit.edu	37	5	38425167	38425167	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:38425167G>T	ENST00000322350.5	+	13	2129	c.1783G>T	c.(1783-1785)Ggg>Tgg	p.G595W	EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000397202.2_5'UTR|EGFLAM_ENST00000336740.6_Missense_Mutation_p.G361W|EGFLAM_ENST00000354891.3_Missense_Mutation_p.G595W	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	595	EGF-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CTGTCCCCTTGGGTTTAAAGG	0.463000													11	172					2.27111e-07	4.26548e-06	0.00010058	1	0
XRCC6BP1	91419	broad.mit.edu	37	12	58350480	58350480	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:58350480G>T	ENST00000300145.3	+	6	673	c.548G>T	c.(547-549)cGa>cTa	p.R183L	XRCC6BP1_ENST00000546709.1_3'UTR	NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	183					double-strand break repair via nonhomologous end joining	DNA-dependent protein kinase-DNA ligase 4 complex	DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						ACTTGTGTGCGAGACAGAGCC	0.313000													8	151					0.000274275	0.0038898	0.000274275	1	0
UGGT1	56886	broad.mit.edu	37	2	128892501	128892501	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:128892501G>A	ENST00000375990.3	+	15	1880	c.1477G>A	c.(1477-1479)Gct>Act	p.A493T	UGGT1_ENST00000259253.6_Missense_Mutation_p.A517T			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	517					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GATGAACACAGCTGAGATGTT	0.338000													7	51					0	0	0.000157383	0	0
TRIO	7204	broad.mit.edu	37	5	14399214	14399214	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:14399214G>A	ENST00000509967.2	+	30	4654	c.4502G>A	c.(4501-4503)gGt>gAt	p.G1501D	TRIO_ENST00000537187.1_Intron|TRIO_ENST00000344204.4_Intron			O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	0	PH 1.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AAGTCTAAAGGTAACACAATT	0.348000													22	83					0	0	0.000229342	0	0
SPG11	80208	broad.mit.edu	37	15	44867146	44867146	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:44867146C>G	ENST00000261866.7	-	31	5976	c.5960G>C	c.(5959-5961)gGg>gCg	p.G1987A	SPG11_ENST00000558319.1_Missense_Mutation_p.G1987A|SPG11_ENST00000535302.2_Intron|SPG11_ENST00000427534.2_Missense_Mutation_p.G1987A	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1987					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GTAGTTCTTCCCATGGAGGCA	0.493000													4	113					0	0	3.59834e-05	0	0
OSTCP1	202459	broad.mit.edu	37	6	159262929	159262929	+	RNA	SNP	A	A	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:159262929A>G	ENST00000522287.1	-	0	414					NR_028496.1																						GTAAACAGGAAGCTGGATGCA	0.408000													4	126					0	0	0.00024832	0	0
PDIA6	10130	broad.mit.edu	37	2	10929925	10929925	+	Missense_Mutation	SNP	G	G	C	rs149489060		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:10929925G>C	ENST00000404371.2	-	10	1283	c.946C>G	c.(946-948)Cgg>Ggg	p.R316G	PDIA6_ENST00000381611.4_Missense_Mutation_p.R269G|PDIA6_ENST00000540494.1_Missense_Mutation_p.R261G|PDIA6_ENST00000404824.2_Missense_Mutation_p.R312G|PDIA6_ENST00000272227.3_Missense_Mutation_p.R264G			Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	264					cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	p.R264R(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		TCAAGGGCCCGGGACACGATG	0.453000													4	112					0	0	3.59834e-05	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73445645	73445645	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:73445645T>C	ENST00000556143.1	-	6	2063	c.1343A>G	c.(1342-1344)aAg>aGg	p.K448R	ZFYVE1_ENST00000554145.1_5'UTR|ZFYVE1_ENST00000555072.1_Missense_Mutation_p.K33R|ZFYVE1_ENST00000394207.2_Missense_Mutation_p.K33R|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.K448R|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.K448R	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	448						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		CACTCCTTCCTTCCCATGATT	0.517000													4	177					0	0	3.59834e-05	0	0
FADS3	3995	broad.mit.edu	37	11	61644404	61644404	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:61644404C>A	ENST00000540820.1	-	8	989	c.917G>T	c.(916-918)cGc>cTc	p.R306L	FADS3_ENST00000278829.2_Missense_Mutation_p.R306L|FADS3_ENST00000525588.1_Missense_Mutation_p.R278L|FADS3_ENST00000527697.1_Missense_Mutation_p.R182L			Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	306					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TAAGAAGAAGCGGGCATAGAA	0.622000													4	11					3.59834e-05	0.000600898	3.59834e-05	1	0
SERPINB7	8710	broad.mit.edu	37	18	61459657	61459657	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:61459657G>T	ENST00000398019.2	+	3	524	c.199G>T	c.(199-201)Gga>Tga	p.G67*	SERPINB7_ENST00000336429.2_Nonsense_Mutation_p.G67*|SERPINB7_ENST00000540675.1_Intron|SERPINB7_ENST00000546027.1_Nonsense_Mutation_p.G67*	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	67					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				CTCAGGATATGGAAACTCTTC	0.408000													7	144					0.000673444	0.0084606	0.000673444	1	0
IGKV3-7	28915	broad.mit.edu	37	2	89278459	89278459	+	RNA	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:89278459G>A	ENST00000390247.2	-	0	141																											CCTCACCTGGGAGCCAGAGTA	0.498000													7	134					0	0	0.000442599	0	0
ACSM2B	348158	broad.mit.edu	37	16	20570715	20570715	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:20570715C>T	ENST00000329697.6	-	3	400	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	ACSM2B_ENST00000565322.1_5'UTR|ACSM2B_ENST00000567001.1_Missense_Mutation_p.E78K|ACSM2B_ENST00000414188.2_Missense_Mutation_p.E78K|ACSM2B_ENST00000565232.1_Missense_Mutation_p.E78K	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	78					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CACATTAATTCCTTCCCCTTC	0.557000													4	17					0	0	0.000602214	0	0
PDE8B	8622	broad.mit.edu	37	5	76715591	76715591	+	Splice_Site	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:76715591G>T	ENST00000264917.5	+	19	2174		c.e19-1		PDE8B_ENST00000346042.3_Splice_Site|PDE8B_ENST00000505283.1_Splice_Site|PDE8B_ENST00000342343.4_Splice_Site|PDE8B_ENST00000340978.3_Splice_Site|PDE8B_ENST00000333194.4_Splice_Site	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B						cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		GGTTATTTTAGGAACCATTAT	0.418000													13	365					0.000422831	0.00584094	0.000422831	1	0
NBPF1	55672	broad.mit.edu	37	1	16893763	16893763	+	Missense_Mutation	SNP	T	T	C	rs1065056		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:16893763T>C	ENST00000430580.2	-	25	3637	c.2750A>G	c.(2749-2751)tAt>tGt	p.Y917C	NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000432949.1_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	917	NBPF 5.					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)		CAGTTCAAGATAACCTGAAGG	0.493000													8	661					0	0	6.40141e-05	0	0
RBBP6	5930	broad.mit.edu	37	16	24574598	24574598	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:24574598C>A	ENST00000319715.4	+	11	1800	c.1368C>A	c.(1366-1368)acC>acA	p.T456T	RBBP6_ENST00000348022.2_Silent_p.T456T|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	456					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TTGCAATTACCGCTCTTATGG	0.343000													6	157					1.06961e-07	2.02547e-06	0.000157383	1	0
LRFN2	57497	broad.mit.edu	37	6	40400541	40400541	+	Silent	SNP	G	G	A	rs150510241		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:40400541G>A	ENST00000338305.6	-	2	854	c.312C>T	c.(310-312)tcC>tcT	p.S104S		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	104						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAAGATGCAGGGAGCGGAGGC	0.602000													17	72					0	0	0.00074312	0	0
CRLS1	54675	broad.mit.edu	37	20	6012710	6012710	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:6012710C>A	ENST00000378863.4	+	5	870	c.713C>A	c.(712-714)cCa>cAa	p.P238Q	CRLS1_ENST00000452938.1_3'UTR|CRLS1_ENST00000378868.3_Missense_Mutation_p.P139Q|CRLS1_ENST00000464921.1_3'UTR	NM_019095.4	NP_061968.1	Q9UJA2	CRLS1_HUMAN	cardiolipin synthase 1	238					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphotransferase activity, for other substituted phosphate groups			lung(3)|ovary(1)	4						AGGTTAAAACCAACATTCATC	0.328000													10	281					2.17888e-05	0.00037262	0.000442599	1	0
PCDHA3	56145	broad.mit.edu	37	5	140181269	140181269	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:140181269G>T	ENST00000522353.2	+	1	487	c.487G>T	c.(487-489)Gga>Tga	p.G163*	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Nonsense_Mutation_p.G163*	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGATATCGGAACAAATTC	0.428000													6	157					0.000157383	0.00236471	0.000157383	1	0
ENO1	2023	broad.mit.edu	37	1	8922989	8922989	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:8922989G>C	ENST00000234590.4	-	11	1311	c.1192C>G	c.(1192-1194)Cct>Gct	p.P398A		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	398					gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GATCGGCAAGGGGCACCAGTC	0.562000											OREG0013068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	42					0	0	0.000602214	0	0
ANKRD11	29123	broad.mit.edu	37	16	89349764	89349764	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:89349764G>T	ENST00000301030.4	-	9	3646	c.3186C>A	c.(3184-3186)acC>acA	p.T1062T	ANKRD11_ENST00000378330.2_Silent_p.T1062T	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1062	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GTTTTTCCTTGGTATCTTTTT	0.378000													10	303					0.000673444	0.0084606	0.000673444	1	0
TRAPPC8	22878	broad.mit.edu	37	18	29487516	29487516	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:29487516C>A	ENST00000283351.4	-	9	1631	c.1296G>T	c.(1294-1296)ttG>ttT	p.L432F	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.L378F|TRAPPC8_ENST00000582513.1_Missense_Mutation_p.L432F	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	432					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AATGCTGCACCAAAAAACATA	0.368000													8	76					0.000157383	0.00236471	0.000157383	1	0
KCTD19	146212	broad.mit.edu	37	16	67354729	67354729	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:67354729G>T	ENST00000304372.5	-	2	118	c.63C>A	c.(61-63)ggC>ggA	p.G21G		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	21	BTB 1.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		AGAAATGCCAGCCCCCTACGT	0.478000													7	119					0.000442599	0.00584094	0.000442599	1	0
UBA2	10054	broad.mit.edu	37	19	34922797	34922797	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:34922797C>A	ENST00000246548.4	+	3	324	c.254C>A	c.(253-255)cCg>cAg	p.P85Q	UBA2_ENST00000439527.2_5'UTR	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	85					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CAGTTTTACCCGAAAGCTAAT	0.368000													7	193					0.000274275	0.0038898	0.000274275	1	0
TMEM50A	23585	broad.mit.edu	37	1	25669550	25669550	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:25669550C>A	ENST00000374358.4	+	3	745	c.192C>A	c.(190-192)acC>acA	p.T64T	TMEM50A_ENST00000480937.1_3'UTR	NM_014313.3	NP_055128.1	O95807	TM50A_HUMAN	transmembrane protein 50A	64						endoplasmic reticulum|integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		TTATAGCAACCATAGCCTTCC	0.348000													8	134					0.000673444	0.0084606	0.000673444	1	0
MRPL47	57129	broad.mit.edu	37	3	179320561	179320561	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:179320561C>G	ENST00000476781.1	-	2	152	c.123G>C	c.(121-123)aaG>aaC	p.K41N	MRPL47_ENST00000392659.2_Intron|MRPL47_ENST00000259038.2_Intron	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	41					translation	mitochondrial ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			TTGGTGTACTCTTAGGCAACA	0.303000													5	214					0	0	0.000602214	0	0
C10orf53	282966	broad.mit.edu	37	10	50916545	50916545	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:50916545T>C	ENST00000374112.3	+	3	368	c.356T>C	c.(355-357)gTa>gCa	p.V119A	C10orf53_ENST00000535836.1_Missense_Mutation_p.V119A	NM_182554.2	NP_872360.2	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	0										endometrium(1)|lung(6)	7		all_neural(218;0.107)				acttgtactgtattggcccag	0.488000													4	178					0	0	0.00024832	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73316413	73316413	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:73316413C>A	ENST00000258098.6	-	2	702	c.462G>T	c.(460-462)aaG>aaT	p.K154N	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	154					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CCTTCTCCTTCTTGCCTGGCT	0.592000													7	141					0.000157383	0.00236471	0.000157383	1	0
SEMA3C	10512	broad.mit.edu	37	7	80418770	80418770	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:80418770C>A	ENST00000265361.3	-	12	1767	c.1206G>T	c.(1204-1206)cgG>cgT	p.R402R	SEMA3C_ENST00000419255.2_Silent_p.R402R|SEMA3C_ENST00000544525.1_Silent_p.R420R	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	402	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GAGGATGGTTCCGAATAAAAG	0.413000													5	40					0.000602214	0.00792632	0.000602214	1	0
NCAPG	64151	broad.mit.edu	37	4	17843954	17843954	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:17843954C>A	ENST00000251496.2	+	20	3052	c.2876C>A	c.(2875-2877)tCa>tAa	p.S959*		NM_022346.3	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	959					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		GTGACAGTTTCAGCTAGGACG	0.363000													5	41					0.000157383	0.00236471	0.000157383	1	0
DNAH17	8632	broad.mit.edu	37	17	76571089	76571089	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:76571089G>C	ENST00000389840.5	-	2	175	c.51C>G	c.(49-51)tcC>tcG	p.S17S	DNAH17_ENST00000585328.1_Silent_p.S17S					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCAGGACGATGGAGGCAACTT	0.522000													3	37					0	0	3.59834e-05	0	0
FAM221A	340277	broad.mit.edu	37	7	23740479	23740479	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:23740479C>A	ENST00000344962.4	+	6	909	c.820C>A	c.(820-822)Cag>Aag	p.Q274K	FAM221A_ENST00000409192.3_Missense_Mutation_p.Q238K|FAM221A_ENST00000409653.1_Missense_Mutation_p.Q216K|FAM221A_ENST00000483090.1_3'UTR|FAM221A_ENST00000409994.3_Missense_Mutation_p.Q180K	NM_199136.3	NP_954587.2	A4D161	CG046_HUMAN	family with sequence similarity 221, member A	274																	AAGACGATACCAGGAAAGGGT	0.348000													16	333					0.000295444	0.00418604	0.000295444	1	0
ITGA8	8516	broad.mit.edu	37	10	15561362	15561362	+	Missense_Mutation	SNP	G	G	T	rs141983422		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:15561362G>T	ENST00000378076.3	-	29	3385	c.3032C>A	c.(3031-3033)cCa>cAa	p.P1011Q		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	1011					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.P1011Q(1)|p.P1011L(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TACCCATAATGGGATTGAGAA	0.348000													10	214					0.000442599	0.00584094	0.000442599	1	0
MICAL3	57553	broad.mit.edu	37	22	18368778	18368778	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:18368778G>T	ENST00000441493.2	-	16	2459	c.2107C>A	c.(2107-2109)Ctg>Atg	p.L703M	MICAL3_ENST00000207726.7_Missense_Mutation_p.L703M|MICAL3_ENST00000585038.1_Missense_Mutation_p.L703M|MICAL3_ENST00000444520.1_Missense_Mutation_p.L703M|MICAL3_ENST00000383094.3_Missense_Mutation_p.L703M|MICAL3_ENST00000414725.2_Missense_Mutation_p.L703M|MICAL3_ENST00000429452.1_Missense_Mutation_p.L703M|MICAL3_ENST00000400561.2_Missense_Mutation_p.L703M	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	703						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GTGCTCACCAGGGTCGGTCTT	0.587000													7	128					0.000442599	0.00584094	0.000442599	1	0
TRIOBP	11078	broad.mit.edu	37	22	38121705	38121705	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:38121705G>T	ENST00000406386.3	+	7	3397	c.3142G>T	c.(3142-3144)Gag>Tag	p.E1048*	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1048					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCGCGCCCCTGAGAGTGAACC	0.672000													7	129					5.50884e-06	9.71621e-05	0.00010058	1	0
MS4A6A	64231	broad.mit.edu	37	11	59939727	59939727	+	Splice_Site	SNP	C	C	A	rs140130948	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:59939727C>A	ENST00000323961.3	-	7	889		c.e7-1		MS4A6A_ENST00000529054.1_Splice_Site|MS4A6A_ENST00000426738.2_3'UTR|MS4A6A_ENST00000530839.1_Splice_Site|MS4A6A_ENST00000420732.2_Splice_Site|MS4A6A_ENST00000528851.1_3'UTR	NM_152851.2	NP_690590.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A							integral to membrane	receptor activity	p.?(2)		endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAAGTACACTCTAGAAGAAAC	0.338000													9	164					3.07112e-06	5.5112e-05	6.40141e-05	1	0
FMNL2	114793	broad.mit.edu	37	2	153431698	153431698	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:153431698G>T	ENST00000288670.9	+	7	1012	c.645G>T	c.(643-645)gtG>gtT	p.V215V		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	215	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CAAGATTAGTGAGTAAGAAAG	0.323000													5	32					1.06961e-07	2.02547e-06	0.000157383	1	0
SP4	6671	broad.mit.edu	37	7	21469023	21469023	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:21469023G>T	ENST00000222584.3	+	3	458	c.240G>T	c.(238-240)ttG>ttT	p.L80F		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	80					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GTCAAGGATTGGTGCAACTTC	0.443000													6	111					0.000442599	0.00584094	0.000442599	1	0
WBP1	23559	broad.mit.edu	37	2	74687147	74687147	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:74687147C>T	ENST00000393972.3	+	4	625	c.422C>T	c.(421-423)cCt>cTt	p.P141L	WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000409737.1_Missense_Mutation_p.P104L|WBP1_ENST00000233615.2_Missense_Mutation_p.P107L			Q96G27	WBP1_HUMAN	WW domain binding protein 1	107							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						GGGGCTGGTCCTTTCCCTACC	0.572000													14	64					0	0	0.000422831	0	0
ABCA1	19	broad.mit.edu	37	9	107578466	107578466	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:107578466C>G	ENST00000374736.3	-	25	4090	c.3696G>C	c.(3694-3696)ctG>ctC	p.L1232L		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1232					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	p.L1232L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TAGAAATGCCCAGGTCTGAGA	0.483000													6	225					0	0	0.000157383	0	0
COL6A6	131873	broad.mit.edu	37	3	130289710	130289710	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:130289710C>G	ENST00000358511.6	+	6	2481	c.2450C>G	c.(2449-2451)tCt>tGt	p.S817C	COL6A6_ENST00000453409.2_Missense_Mutation_p.S817C	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	817	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion	collagen		p.S817Y(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATTGATAGCTCTGGCAGTATT	0.403000													5	135					0	0	0.000602214	0	0
TAL1	6886	broad.mit.edu	37	1	47691495	47691495	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:47691495G>T	ENST00000371883.3	-	2	642	c.66C>A	c.(64-66)gcC>gcA	p.A22A	TAL1_ENST00000294339.3_Silent_p.A22A|RP1-18D14.7_ENST00000422216.1_RNA|TAL1_ENST00000371884.2_Silent_p.A22A			P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	22					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						TGCTGGCCTCGGCCGCGTCCC	0.731000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic								4	19					0.000157383	0.00236471	0.000157383	1	0
CEP164	22897	broad.mit.edu	37	11	117267847	117267847	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:117267847G>C	ENST00000278935.3	+	27	3466	c.3319G>C	c.(3319-3321)Ggg>Cgg	p.G1107R	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1107					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CTCTGCTGAGGGGGTAGCCCT	0.587000													4	54					0	0	3.59834e-05	0	0
RNF25	64320	broad.mit.edu	37	2	219529154	219529154	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:219529154G>A	ENST00000295704.2	-	10	1346	c.906C>T	c.(904-906)tcC>tcT	p.S302S		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	302					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGGCAAAGTGGATTGGACGG	0.557000													10	96					0	0	0.00010058	0	0
ZNF518A	9849	broad.mit.edu	37	10	97917568	97917568	+	RNA	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:97917568G>C	ENST00000534948.1	+	0	2346							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		ATTTTTAACAGGAGTAACAAC	0.393000													6	194					0	0	3.59834e-05	0	0
DDB2	1643	broad.mit.edu	37	11	47256142	47256142	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:47256142G>C	ENST00000256996.4	+	5	816	c.621G>C	c.(619-621)ctG>ctC	p.L207L	DDB2_ENST00000378600.3_Intron|DDB2_ENST00000378601.3_Silent_p.L207L|DDB2_ENST00000378603.3_Silent_p.L143L	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	207					nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						TTTGTAGCCTGGATGTGTCTG	0.527000			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum				4	135					0	0	3.59834e-05	0	0
NSUN4	387338	broad.mit.edu	37	1	46827401	46827401	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:46827401G>C	ENST00000474844.1	+	6	1688	c.1038G>C	c.(1036-1038)agG>agC	p.R346S	NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000537428.1_Missense_Mutation_p.R297S|NSUN4_ENST00000536062.1_Missense_Mutation_p.R297S	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	346							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					ACTTCCGAAGGGTTTTCATGG	0.473000													4	141					0	0	0.000157383	0	0
CACHD1	57685	broad.mit.edu	37	1	65145412	65145412	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:65145412C>T	ENST00000371073.2	+	24	3379	c.3379C>T	c.(3379-3381)Cag>Tag	p.Q1127*	CACHD1_ENST00000290039.5_Nonsense_Mutation_p.Q1076*|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1127					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CCGGAGCCATCAGCATATGTC	0.597000													6	45					0	0	8.12818e-05	0	0
PKN3	29941	broad.mit.edu	37	9	131477702	131477702	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:131477702A>G	ENST00000291906.4	+	15	2164	c.1771A>G	c.(1771-1773)Aag>Gag	p.K591E	PKN3_ENST00000485301.1_Intron	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	591	Protein kinase.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						CAAAGCACTGAAGAAGCAGGA	0.632000													3	63					0	0	0.000602214	0	0
PCDH20	64881	broad.mit.edu	37	13	61985742	61985742	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:61985742G>C	ENST00000409186.1	-	5	4595	c.2490C>G	c.(2488-2490)ccC>ccG	p.P830P	PCDH20_ENST00000409204.4_Silent_p.P830P			Q8N6Y1	PCD20_HUMAN	protocadherin 20	803	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGAGAGGCTCGGGATAACCAT	0.428000													4	110					0	0	0.00024832	0	0
SNX25	83891	broad.mit.edu	37	4	186274691	186274691	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:186274691G>T	ENST00000504273.1	+	15	2321	c.2027G>T	c.(2026-2028)gGg>gTg	p.G676V	SNX25_ENST00000264694.8_Missense_Mutation_p.G676V|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	676					cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		GATGTGGATGGGAGGAAAGAC	0.418000													7	158					0.000157383	0.00236471	0.000157383	1	0
GH1	2688	broad.mit.edu	37	17	61995408	61995408	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:61995408G>C	ENST00000323322.5	-	3	302	c.260C>G	c.(259-261)cCc>cGc	p.P87R	GH1_ENST00000458650.2_Missense_Mutation_p.P72R|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000351388.4_Intron|GH1_ENST00000342364.4_Intron	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	87					glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						CCTGTTGGAGGGTGTCGGAAT	0.552000													4	154					0	0	0.00024832	0	0
PIK3CB	5291	broad.mit.edu	37	3	138456647	138456647	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:138456647G>C	ENST00000477593.1	-	5	776	c.703C>G	c.(703-705)Cat>Gat	p.H235D	PIK3CB_ENST00000289153.2_Missense_Mutation_p.H235D			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	235	PI3K-RBD.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TCCTTCCCATGAATAGTCAAA	0.408000													5	386					0	0	3.59834e-05	0	0
HTATSF1	27336	broad.mit.edu	37	X	135592349	135592349	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:135592349C>G	ENST00000535601.1	+	9	1455	c.1033C>G	c.(1033-1035)Cag>Gag	p.Q345E	HTATSF1_ENST00000218364.4_Missense_Mutation_p.Q345E	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	345	RRM 2.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					AATCACTGCCCAGGCATGGGA	0.453000													5	145					0	0	0.000274275	0	0
DNAH5	1767	broad.mit.edu	37	5	13931263	13931263	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:13931263G>C	ENST00000265104.4	-	2	252	c.148C>G	c.(148-150)Ctg>Gtg	p.L50V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	50	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTTTTGTTCAGGTCCAAACAG	0.468000									Kartagener syndrome				6	96					0	0	3.59834e-05	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32407763	32407763	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:32407763C>G	ENST00000395388.2	+	1	145	c.36C>G	c.(34-36)ttC>ttG	p.F12L	HLA-DRA_ENST00000374982.5_Missense_Mutation_p.F12L	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	12					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						TAGGATTTTTCATCATAGCTG	0.483000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				4	77					0	0	0.00024832	0	0
BAZ1B	9031	broad.mit.edu	37	7	72883954	72883954	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:72883954G>T	ENST00000339594.4	-	9	3097	c.2759C>A	c.(2758-2760)cCa>cAa	p.P920Q	BAZ1B_ENST00000404251.1_Missense_Mutation_p.P920Q	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	920					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				GAATAATCCTGGAACTTCATC	0.408000													7	85					0.000673444	0.0084606	0.000673444	1	0
PCDH1	5097	broad.mit.edu	37	5	141243238	141243238	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:141243238G>A	ENST00000287008.3	-	3	2805	c.2658C>T	c.(2656-2658)taC>taT	p.Y886Y	PCDH1_ENST00000536585.1_Silent_p.Y864Y|PCDH1_ENST00000456271.1_Silent_p.Y874Y|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000394536.3_Silent_p.Y886Y	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	886					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TACCAGCCTGGTAACCACTTT	0.577000													7	158					0	0	8.12818e-05	0	0
CBX3	11335	broad.mit.edu	37	7	26246012	26246012	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:26246012G>A	ENST00000337620.4	+	3	477	c.49G>A	c.(49-51)Gga>Aga	p.G17R	CBX3_ENST00000409747.1_Missense_Mutation_p.G17R|CBX3_ENST00000396386.2_Missense_Mutation_p.G17R|CBX3_ENST00000497498.1_3'UTR	NM_007276.4	NP_009207.2	Q13185	CBX3_HUMAN	chromobox homolog 3	17					chromatin remodeling|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome, centromeric region|nuclear centromeric heterochromatin|nuclear euchromatin|nuclear inner membrane|spindle	enzyme binding|protein domain specific binding			endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						AAAACAGAATGGAAAGAGTAA	0.328000													16	76					0	0	0.00074312	0	0
TNIK	23043	broad.mit.edu	37	3	170856098	170856098	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:170856098C>T	ENST00000436636.2	-	15	1834	c.1490G>A	c.(1489-1491)aGa>aAa	p.R497K	TNIK_ENST00000341852.6_Missense_Mutation_p.R468K|TNIK_ENST00000470834.1_Missense_Mutation_p.R468K|TNIK_ENST00000357327.5_Missense_Mutation_p.R468K|TNIK_ENST00000460047.1_Missense_Mutation_p.R497K|TNIK_ENST00000369326.5_Missense_Mutation_p.R468K|TNIK_ENST00000284483.8_Missense_Mutation_p.R497K|TNIK_ENST00000488470.1_Missense_Mutation_p.R497K|TNIK_ENST00000538048.1_Missense_Mutation_p.R497K|TNIK_ENST00000475336.1_Missense_Mutation_p.R468K	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	497	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TAAGTAGTCTCTTTCTTGCTT	0.463000													5	37					0	0	0.000602214	0	0
CARM1	10498	broad.mit.edu	37	19	11032116	11032116	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:11032116C>G	ENST00000327064.4	+	15	1871	c.1681C>G	c.(1681-1683)Caa>Gaa	p.Q561E	CARM1_ENST00000344150.4_Intron	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	561	Transactivation domain (By similarity).				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GGGGATTGTCCAAGGTAACGA	0.652000													4	75					0	0	0.00024832	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144060770	144060770	+	Silent	SNP	T	T	C	rs141931104	by1000genomes	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:144060770T>C	ENST00000056217.5	+	2	1182	c.1008T>C	c.(1006-1008)aaT>aaC	p.N336N		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	336					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	p.N336N(5)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CAGAAGAGAATAGGGCGGACT	0.512000													7	212					0	0	0.000219431	0	0
CDC123	8872	broad.mit.edu	37	10	12259450	12259450	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:12259450C>G	ENST00000281141.4	+	6	704	c.424C>G	c.(424-426)Cgt>Ggt	p.R142G	CDC123_ENST00000378900.2_Missense_Mutation_p.R142G|CDC123_ENST00000455773.3_3'UTR	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123	142					cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						TTTCATCACTCGTGACTTCAC	0.358000													5	417					0	0	8.12818e-05	0	0
PLCG2	5336	broad.mit.edu	37	16	81944267	81944267	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:81944267G>C	ENST00000359376.3	+	18	2090	c.1876G>C	c.(1876-1878)Gag>Cag	p.E626Q		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	626	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GCGCTGCGCCGAGTTCGAGCT	0.642000													4	156					0	0	0.000157383	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919833	12919833	+	Silent	SNP	A	A	G	rs150145103	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:12919833A>G	ENST00000240189.2	+	3	660	c.573A>G	c.(571-573)ccA>ccG	p.P191P		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	191								p.P191P(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTAACGCCAATTAAATATC	0.398000													5	174					0	0	0.000602214	0	0
INVS	27130	broad.mit.edu	37	9	103035213	103035213	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:103035213G>C	ENST00000262457.2	+	12	1824	c.1639G>C	c.(1639-1641)Ggt>Cgt	p.G547R	INVS_ENST00000262456.2_Missense_Mutation_p.G547R|INVS_ENST00000541287.1_Missense_Mutation_p.G451R	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	547					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding	p.G547C(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				GTTGGAGCACGGTGCCCTGTC	0.463000													5	210					0	0	0.000602214	0	0
KRT2	3849	broad.mit.edu	37	12	53044242	53044242	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:53044242G>T	ENST00000309680.3	-	2	702	c.681C>A	c.(679-681)ccC>ccA	p.P227P		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	227	Linker 1.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CCTGGAAGATGGGCTCCAGGT	0.507000													10	133					0.000673444	0.0084606	0.000673444	1	0
F8	2157	broad.mit.edu	37	X	154157962	154157962	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:154157962G>C	ENST00000360256.4	-	14	4303	c.4103C>G	c.(4102-4104)cCg>cGg	p.P1368R		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1368	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.P1368Q(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GAGGGTGCTCGGGGTCAAATG	0.438000													4	164					0	0	0.00024832	0	0
PNLDC1	154197	broad.mit.edu	37	6	160221773	160221773	+	Missense_Mutation	SNP	C	C	G	rs140968331	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:160221773C>G	ENST00000275275.5	+	2	184	c.13C>G	c.(13-15)Cga>Gga	p.R5G	PNLDC1_ENST00000392167.3_Intron	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	5						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GTTCTGCACCCGAGGACTGCT	0.562000													4	154					0	0	0.000157383	0	0
CLPX	10845	broad.mit.edu	37	15	65471350	65471350	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:65471350C>A	ENST00000300107.3	-	3	468	c.280G>T	c.(280-282)Ggg>Tgg	p.G94W		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	94					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						CCAGAATTCCCAGAGCCTGAT	0.413000													10	129					0.000442599	0.00584094	0.000442599	1	0
ZNF550	162972	broad.mit.edu	37	19	58059187	58059187	+	Missense_Mutation	SNP	G	G	C	rs142200842	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:58059187G>C	ENST00000325134.5	-	3	485	c.329C>G	c.(328-330)cCg>cGg	p.P110R	ZNF550_ENST00000457177.1_Missense_Mutation_p.P142R|ZNF550_ENST00000506609.2_Missense_Mutation_p.P101R|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron			Q7Z398	ZN550_HUMAN	zinc finger protein 550	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTCTGTCTCCGGTGTCACTTT	0.512000													5	256					0	0	3.59834e-05	0	0
SDC3	9672	broad.mit.edu	37	1	31347401	31347401	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:31347401C>A	ENST00000336798.7	-	2	2223	c.731G>T	c.(730-732)cGg>cTg	p.R244L	SDC3_ENST00000339394.6_Missense_Mutation_p.R302L			O75056	SDC3_HUMAN	syndecan 3	302	Ser/Thr-rich (mucin-like).					integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCTCATCCCGGATTGTGGT	0.587000													5	96					0.000274275	0.0038898	0.000274275	1	0
RAPGEF4	11069	broad.mit.edu	37	2	173891400	173891400	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:173891400G>T	ENST00000264111.6	+	24	2538	c.2351G>T	c.(2350-2352)tGg>tTg	p.W784L	RAPGEF4_ENST00000540783.1_Missense_Mutation_p.W632L|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.W632L|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.W614L|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.W565L|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.W785L|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.W785L|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.W641L			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	785	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	p.W785L(1)		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)			ATTTATGATTGGGAACTCTTC	0.438000													6	89					0.000157383	0.00236471	0.000157383	1	0
L3HYPDH	112849	broad.mit.edu	37	14	59939746	59939746	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:59939746C>G	ENST00000247194.4	-	5	1115	c.1002G>C	c.(1000-1002)acG>acC	p.T334T	L3HYPDH_ENST00000543619.1_5'UTR	NM_144581.1	NP_653182.1			L-3-hydroxyproline dehydratase (trans-)																		TTGCTGTACCCGTGTAATGGG	0.368000													4	101					0	0	0.00024832	0	0
OVCH1	341350	broad.mit.edu	37	12	29644125	29644125	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:29644125C>T	ENST00000318184.5	-	5	454	c.454_splice	c.e5-1	p.G152_splice		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	152	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					AACAGCATTTCCTGAGAAAAC	0.388000													8	68					0	0	0.000274275	0	0
SPA17	53340	broad.mit.edu	37	11	124564263	124564263	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:124564263G>C	ENST00000532692.1	+	4	1798	c.377G>C	c.(376-378)cGg>cCg	p.R126P	SIAE_ENST00000525730.1_5'UTR|SPA17_ENST00000227135.2_Missense_Mutation_p.R126P|SPA17_ENST00000524614.1_3'UTR			Q15506	SP17_HUMAN	sperm autoantigenic protein 17	126	IQ.				binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		GCTGCCTTCCGGGGACACATA	0.413000													4	175					0	0	3.59834e-05	0	0
AHNAK	79026	broad.mit.edu	37	11	62298005	62298005	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:62298005G>T	ENST00000378024.4	-	5	4158	c.3884C>A	c.(3883-3885)cCa>cAa	p.P1295Q	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1295					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCTCACATCTGGGACTTCAAC	0.542000													8	258					0.000673444	0.0084606	0.000673444	1	0
ZNF296	162979	broad.mit.edu	37	19	45579557	45579557	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:45579557C>G	ENST00000303809.2	-	1	289	c.75G>C	c.(73-75)atG>atC	p.M25I		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	25					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						CCTGCATTTCCATCTCGTCGT	0.721000													4	147					0	0	0.00024832	0	0
ARRB2	409	broad.mit.edu	37	17	4620555	4620555	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:4620555C>A	ENST00000269260.2	+	6	634	c.401C>A	c.(400-402)cCa>cAa	p.P134Q	ARRB2_ENST00000412477.3_Missense_Mutation_p.P155Q|ARRB2_ENST00000381488.6_Missense_Mutation_p.P119Q|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000575877.1_Missense_Mutation_p.P134Q|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000346341.2_Missense_Mutation_p.P119Q	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	134					cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CAGCCAGGCCCAGAGGATACA	0.587000													6	82					0.000673444	0.0084606	0.000673444	1	0
CLEC4F	165530	broad.mit.edu	37	2	71043612	71043612	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:71043612G>C	ENST00000272367.2	-	4	977	c.901C>G	c.(901-903)Cag>Gag	p.Q301E	CLEC4F_ENST00000426626.1_Missense_Mutation_p.Q301E	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	301					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GCCTGGGTCTGGGAGTTTAAA	0.418000													4	155					0	0	3.59834e-05	0	0
CAPSL	133690	broad.mit.edu	37	5	35910013	35910013	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:35910013C>T	ENST00000397367.2	-	4	606	c.480G>A	c.(478-480)agG>agA	p.R160R	CAPSL_ENST00000397366.1_Silent_p.R160R|CAPSL_ENST00000514524.1_Silent_p.R160R	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	160	EF-hand 4.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			CCAGAAATTTCCTAAATACTT	0.368000													13	140					0	0	0.000566183	0	0
SLC5A2	6524	broad.mit.edu	37	16	31500246	31500246	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:31500246C>G	ENST00000330498.3	+	11	1345	c.1326C>G	c.(1324-1326)ccC>ccG	p.P442P		NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	442					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	p.P442P(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						CCTGGCTTCCCGTGGTGCAGG	0.682000													3	51					0	0	3.59834e-05	0	0
PRRT3	285368	broad.mit.edu	37	3	9990562	9990562	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:9990562G>C	ENST00000412055.1	-	3	1180	c.1051C>G	c.(1051-1053)Ccc>Gcc	p.P351A	PRRT3-AS1_ENST00000431558.1_RNA|PRRT3_ENST00000411976.2_Missense_Mutation_p.P351A	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	351	Pro-rich.					integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						ACCCGCTGGGGGGAGATGGGG	0.582000													4	107					0	0	3.59834e-05	0	0
LIMA1	51474	broad.mit.edu	37	12	50615931	50615931	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:50615931G>A	ENST00000341247.4	-	4	652	c.503C>T	c.(502-504)tCc>tTc	p.S168F	LIMA1_ENST00000552783.1_Missense_Mutation_p.S8F|LIMA1_ENST00000552909.1_Missense_Mutation_p.S8F|LIMA1_ENST00000394943.3_Missense_Mutation_p.S168F|LIMA1_ENST00000552823.1_Missense_Mutation_p.S8F|RP3-405J10.4_ENST00000551284.1_RNA	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	168					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TTCATGCCTGGATTCTCCTAG	0.403000													10	166					0	0	6.40141e-05	0	0
COL6A3	1293	broad.mit.edu	37	2	238275473	238275473	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:238275473A>G	ENST00000295550.4	-	11	5809	c.5357T>C	c.(5356-5358)gTt>gCt	p.V1786A	COL6A3_ENST00000353578.4_Missense_Mutation_p.V1580A|COL6A3_ENST00000409809.1_Missense_Mutation_p.V1580A|COL6A3_ENST00000347401.3_Missense_Mutation_p.V1585A|COL6A3_ENST00000346358.4_Missense_Mutation_p.V1586A|COL6A3_ENST00000472056.1_Missense_Mutation_p.V1179A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1786	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TATCTTTCCAACCTCCTCCGA	0.562000													6	62					0	0	3.59834e-05	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951154	119951154	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:119951154C>G	ENST00000307142.4	+	4	1420	c.1224C>G	c.(1222-1224)acC>acG	p.T408T	SYNPO2_ENST00000429713.2_Silent_p.T408T|SYNPO2_ENST00000434046.2_Silent_p.T408T|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	408						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGAAATACACCCTAGTTAGCT	0.522000													5	165					0	0	0.000157383	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115603995	115603995	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:115603995C>T	ENST00000361384.2	-	5	3304	c.2387G>A	c.(2386-2388)gGt>gAt	p.G796D	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.G796D	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	796					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		CATGACAGCACCTGGACAGCT	0.423000								Other identified genes with known or suspected DNA repair function					15	49					0	0	0.000422831	0	0
ATG7	10533	broad.mit.edu	37	3	11421450	11421450	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:11421450G>C	ENST00000354449.3	+	17	1905	c.1880G>C	c.(1879-1881)cGg>cCg	p.R627P	ATG7_ENST00000354956.5_Intron|ATG7_ENST00000446450.2_Missense_Mutation_p.R588P	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	627					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						TTTTAGATCCGGGGATTTCTT	0.388000													5	110					0	0	0.000602214	0	0
TTN	7273	broad.mit.edu	37	2	179596841	179596841	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:179596841G>T	ENST00000589042.1	-	57	17079	c.16855C>A	c.(16855-16857)Caa>Aaa	p.Q5619K	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.Q4375K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.Q5302K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5302	Ig-like 37.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.Q4375K(1)		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)			GCCTCATTTTGGGCCTCACAC	0.463000													8	133					0.000274275	0.0038898	0.000274275	1	0
CEACAM5	1048	broad.mit.edu	37	19	42222061	42222061	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:42222061C>A	ENST00000221992.6	+	6	1366	c.1252C>A	c.(1252-1254)Ccc>Acc	p.P418T	CEACAM5_ENST00000405816.1_Missense_Mutation_p.P418T|CEACAM5_ENST00000398599.4_Missense_Mutation_p.P417T|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	418	Ig-like 5.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCAGACGACCCCACCATTTC	0.557000													6	98					0.000157383	0.00236471	0.000157383	1	0
TRHDE	29953	broad.mit.edu	37	12	72863549	72863549	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:72863549G>T	ENST00000261180.4	+	4	1288	c.1192G>T	c.(1192-1194)Gtg>Ttg	p.V398L		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	398					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TCTTTTAGCTGTGCCTAAGCA	0.348000													5	101					1.06961e-07	2.02547e-06	0.000157383	1	0
OTX2	5015	broad.mit.edu	37	14	57268990	57268990	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:57268990G>T	ENST00000339475.5	-	5	633	c.357C>A	c.(355-357)gcC>gcA	p.A119A	OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000555006.1_Silent_p.A111A|OTX2_ENST00000408990.3_Silent_p.A111A|OTX2_ENST00000554559.1_3'UTR	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	111					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					TCTTCTTTTTGGCAGGTCTCA	0.493000													6	112					0.000157383	0.00236471	0.000157383	1	0
RECK	8434	broad.mit.edu	37	9	36110025	36110025	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:36110025C>G	ENST00000377966.3	+	15	2403	c.1837C>G	c.(1837-1839)Cgc>Ggc	p.R613G		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	613						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	p.R613S(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GTGCTCTACCCGCCTTTGCCT	0.473000													5	111					0	0	0.000602214	0	0
ANO4	121601	broad.mit.edu	37	12	101433806	101433806	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:101433806G>C	ENST00000392979.3	+	10	1227	c.866G>C	c.(865-867)tGg>tCg	p.W289S	ANO4_ENST00000392977.3_Missense_Mutation_p.W324S|ANO4_ENST00000299222.9_5'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	324						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TATGAGTGCTGGGCCTCCTGG	0.438000										HNSCC(74;0.22)			4	148					0	0	0.00024832	0	0
MAGI3	260425	broad.mit.edu	37	1	114225528	114225528	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:114225528A>C	ENST00000307546.9	+	21	3413	c.3338A>C	c.(3337-3339)gAt>gCt	p.D1113A	MAGI3_ENST00000369615.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1138	PDZ 6.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTGATTGGGATATTAATAAT	0.328000													6	62					0	0	3.59834e-05	0	0
SLC1A5	6510	broad.mit.edu	37	19	47278867	47278867	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:47278867G>T	ENST00000542575.2	-	8	2154	c.1526C>A	c.(1525-1527)cCg>cAg	p.P509Q	SLC1A5_ENST00000434726.2_Missense_Mutation_p.P307Q|FKRP_ENST00000600646.1_Intron|SLC1A5_ENST00000594991.1_Missense_Mutation_p.P333Q|SLC1A5_ENST00000412532.2_Missense_Mutation_p.P281Q	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	509					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	GACTGGCAGCGGATCCAGGGG	0.582000													6	197					0.000157383	0.00236471	0.000157383	1	0
CYFIP2	26999	broad.mit.edu	37	5	156738737	156738737	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:156738737G>C	ENST00000347377.6	+	11	1489	c.1058G>C	c.(1057-1059)cGg>cCg	p.R353P	CYFIP2_ENST00000318218.6_Missense_Mutation_p.R353P|CYFIP2_ENST00000522463.1_Missense_Mutation_p.R157P|CYFIP2_ENST00000541131.1_Missense_Mutation_p.R278P|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000521420.1_Missense_Mutation_p.R327P|CYFIP2_ENST00000377576.3_Missense_Mutation_p.R353P|CYFIP2_ENST00000435847.2_Missense_Mutation_p.R27P	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	353					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTTCAGATCCGGGATGACCAC	0.607000													5	204					0	0	0.000157383	0	0
GRM5	2915	broad.mit.edu	37	11	88258513	88258513	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:88258513C>G	ENST00000418177.2	-	9	3057	c.2690G>C	c.(2689-2691)gGg>gCg	p.G897A	GRM5_ENST00000305432.5_Intron|GRM5_ENST00000393297.1_Intron|GRM5_ENST00000305447.4_Missense_Mutation_p.G897A|GRM5_ENST00000455756.2_Intron			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	897					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CCCCATACTCCCTTTGGGGGT	0.483000													4	189					0	0	0.000157383	0	0
PRG2	5553	broad.mit.edu	37	11	57157408	57157408	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:57157408G>C	ENST00000311862.5	-	2	83	c.10C>G	c.(10-12)Ccc>Gcc	p.P4A	PRG2_ENST00000533605.1_Missense_Mutation_p.P4A|PRG2_ENST00000525955.1_Missense_Mutation_p.P4A|RP11-872D17.8_ENST00000529411.1_Missense_Mutation_p.P109A	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3			proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)											central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAAGTAAGGGGAGTTTCATC	0.428000													4	126					0	0	0.00024832	0	0
ARAP2	116984	broad.mit.edu	37	4	36189153	36189153	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:36189153G>T	ENST00000303965.4	-	8	2087	c.1598C>A	c.(1597-1599)tCa>tAa	p.S533*		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	533	PH 1.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TCGTACTGTTGATATAGCAGA	0.308000													8	119					3.07112e-06	5.5112e-05	6.40141e-05	1	0
AKTIP	64400	broad.mit.edu	37	16	53526643	53526643	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:53526643C>A	ENST00000300245.4	-	10	950	c.733G>T	c.(733-735)Gta>Tta	p.V245L	RP11-44F14.11_ENST00000571523.1_RNA|AKTIP_ENST00000570004.1_Missense_Mutation_p.V245L|AKTIP_ENST00000394657.6_Missense_Mutation_p.V245L			Q9H8T0	AKTIP_HUMAN	AKT interacting protein	245					apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				TCATCATGTACAGAAGGATTC	0.318000													15	514					7.07596e-05	0.00115765	0.00074312	1	0
KIAA1244	57221	broad.mit.edu	37	6	138640902	138640902	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:138640902C>A	ENST00000251691.4	+	28	4703	c.4537C>A	c.(4537-4539)Cgc>Agc	p.R1513S		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1513					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CGTTTGGCTCCGCCGGAGCCA	0.498000													7	129					0.000274275	0.0038898	0.000274275	1	0
CNN3	1266	broad.mit.edu	37	1	95364977	95364977	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:95364977C>A	ENST00000370206.4	-	6	981	c.598G>T	c.(598-600)Gac>Tac	p.D200Y	CNN3_ENST00000487539.1_5'UTR|CNN3_ENST00000394202.4_Missense_Mutation_p.D154Y|CNN3_ENST00000545882.1_Missense_Mutation_p.D159Y|CNN3_ENST00000538964.1_Missense_Mutation_p.D200Y	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	200					actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		GTGGTCTGGTCAAAAGGTTTG	0.428000													6	112					3.59834e-05	0.000600898	3.59834e-05	1	0
PAK2	5062	broad.mit.edu	37	3	196555232	196555232	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:196555232C>G	ENST00000327134.3	+	15	1853	c.1531C>G	c.(1531-1533)Cca>Gca	p.P511A		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	511					axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		TAGCTTGACACCACTGATCAT	0.403000													5	251					0	0	0.000602214	0	0
HECW2	57520	broad.mit.edu	37	2	197171332	197171332	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:197171332G>A	ENST00000260983.2	-	13	2876	c.2694C>T	c.(2692-2694)ttC>ttT	p.F898F	HECW2_ENST00000409111.1_Silent_p.F542F	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	898	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TCTCCCGTCGGAAATCTAGAT	0.483000													11	43					0	0	6.40141e-05	0	0
RNF219	79596	broad.mit.edu	37	13	79213015	79213015	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:79213015G>T	ENST00000282003.6	-	4	550	c.492C>A	c.(490-492)ctC>ctA	p.L164L		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	164							zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		TAGCTGTTCTGAGTTTTTTCT	0.333000													8	192					4.68919e-08	8.97658e-07	0.000673444	1	0
A2ML1	144568	broad.mit.edu	37	12	8988876	8988876	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:8988876G>T	ENST00000299698.7	+	7	849	c.669G>T	c.(667-669)gtG>gtT	p.V223V		NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	67						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						AGGTGGAAGTGGTGGAACCCA	0.458000													6	80					0.000157383	0.00236471	0.000157383	1	0
ZNF92	168374	broad.mit.edu	37	7	64863746	64863746	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:64863746G>C	ENST00000328747.7	+	4	918	c.719G>C	c.(718-720)cGg>cCg	p.R240P	ZNF92_ENST00000357512.2_Missense_Mutation_p.R208P|ZNF92_ENST00000450302.2_Missense_Mutation_p.R171P|ZNF92_ENST00000431504.1_Missense_Mutation_p.R164P	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	240						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				GCTTTTAACCGGTCCTCAAAT	0.373000													4	110					0	0	3.59834e-05	0	0
STAM	8027	broad.mit.edu	37	10	17735273	17735273	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:17735273C>G	ENST00000377524.3	+	6	712	c.497C>G	c.(496-498)aCt>aGt	p.T166S	STAM_ENST00000540523.1_Missense_Mutation_p.T55S	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	166					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						GATCCTGGTACTGTGGCTAAC	0.388000													4	104					0	0	0.00024832	0	0
NEXN	91624	broad.mit.edu	37	1	78392511	78392511	+	Silent	SNP	T	T	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:78392511T>A	ENST00000330010.8	+	7	903	c.606T>A	c.(604-606)gcT>gcA	p.A202A	NEXN_ENST00000457030.1_Silent_p.A252A|NEXN_ENST00000334785.7_Silent_p.A266A	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	266	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AGAAGCAAGCTGAAGAGGAAG	0.358000													13	173					0	0	0.000219431	0	0
TRIM33	51592	broad.mit.edu	37	1	114970453	114970453	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:114970453G>C	ENST00000358465.2	-	7	1302	c.1219C>G	c.(1219-1221)Cgg>Ggg	p.R407G	TRIM33_ENST00000369543.2_Missense_Mutation_p.R407G|TRIM33_ENST00000450349.2_Missense_Mutation_p.R15G	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	407					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCACCTGCCGGGAAAGGCCT	0.443000			T	RET	papillary thyroid								4	120					0	0	0.000157383	0	0
CENPJ	55835	broad.mit.edu	37	13	25480915	25480915	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:25480915G>T	ENST00000381884.4	-	7	1446	c.1261C>A	c.(1261-1263)Cag>Aag	p.Q421K	CENPJ_ENST00000545981.1_Missense_Mutation_p.Q421K	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	421					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GTTTTCCGCTGGAGTTGCTGT	0.433000													7	128					7.48243e-07	1.3784e-05	0.000442599	1	0
CHIT1	1118	broad.mit.edu	37	1	203191393	203191393	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:203191393C>A	ENST00000367229.1	-	7	700	c.666G>T	c.(664-666)acG>acT	p.T222T	CHIT1_ENST00000535569.1_Silent_p.T213T|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Silent_p.T203T	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	222					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TGTTATGTCCCGTGACCTTCT	0.562000													6	58					3.59834e-05	0.000600898	3.59834e-05	1	0
MNX1	3110	broad.mit.edu	37	7	156799208	156799208	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:156799208C>A	ENST00000252971.6	-	2	1117	c.817G>T	c.(817-819)Gag>Tag	p.E273*	MNX1_ENST00000543409.1_Nonsense_Mutation_p.E61*|RP5-1121A15.4_ENST00000429228.1_RNA|MNX1_ENST00000469500.1_Intron	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	273					humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGGCCACCTCGAAGCGCTTG	0.677000													4	40					8.12818e-05	0.00129777	8.12818e-05	1	0
UBA1	7317	broad.mit.edu	37	X	47074246	47074246	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:47074246G>C	ENST00000335972.6	+	26	3278	c.3095G>C	c.(3094-3096)cGg>cCg	p.R1032P	UBA1_ENST00000377269.3_Missense_Mutation_p.R480P|UBA1_ENST00000377351.4_Missense_Mutation_p.R1032P	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	1032					cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CGCCACGTGCGGGCGCTGGTG	0.602000													4	81					0	0	0.00024832	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58190039	58190039	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:58190039G>C	ENST00000318203.5	+	5	1765	c.1068G>C	c.(1066-1068)cgG>cgC	p.R356R		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	356					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAGACCTACGGGTGCATCAGA	0.453000													4	143					0	0	0.00024832	0	0
MUC3A	4584	broad.mit.edu	37	7	100552491	100552491	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:100552491C>T	ENST00000319509.7	+	1	1242	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						ACACAGTTTTCACAAGTACTC	0.522000													12	238					0	0	6.40141e-05	0	0
EVC2	132884	broad.mit.edu	37	4	5567001	5567001	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:5567001G>C	ENST00000310917.2	-	21	4134	c.3403C>G	c.(3403-3405)Cgc>Ggc	p.R1135G	EVC2_ENST00000344408.5_Missense_Mutation_p.R1215G|EVC2_ENST00000344938.1_Missense_Mutation_p.R1215G	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1215						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TTTCTCTTGCGGGCCCACAGC	0.572000													6	125					0	0	3.59834e-05	0	0
C12orf50	160419	broad.mit.edu	37	12	88391938	88391938	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:88391938C>T	ENST00000298699.2	-	4	343	c.163G>A	c.(163-165)Gga>Aga	p.G55R	C12orf50_ENST00000550553.1_Missense_Mutation_p.G55R	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	55										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						AGTGGAATTCCTTCCTGAATT	0.363000													4	41					0	0	0.00024832	0	0
FANCD2	2177	broad.mit.edu	37	3	10142871	10142871	+	Splice_Site	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:10142871G>T	ENST00000419585.1	+	44	4442		c.e44-1		FANCD2_ENST00000383807.1_Splice_Site|FANCD2_ENST00000383806.1_Splice_Site|FANCD2OS_ENST00000524279.1_Intron			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2						DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTGCCCCTTAGGATGGTGAAG	0.408000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				6	79					0.000442599	0.00584094	0.000442599	1	0
LINGO4	339398	broad.mit.edu	37	1	151773644	151773644	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:151773644C>A	ENST00000368820.3	-	2	2474	c.1537G>T	c.(1537-1539)Gac>Tac	p.D513Y		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	513						integral to membrane		p.D513N(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ATGTTGGGGTCAGAAAGTGTG	0.577000													7	143					0.000274275	0.0038898	0.000274275	1	0
SLA2	84174	broad.mit.edu	37	20	35242330	35242330	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:35242330C>G	ENST00000262866.4	-	8	1147	c.725G>C	c.(724-726)cGg>cCg	p.R242P	SLA2_ENST00000360672.2_3'UTR	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	242	SLA C-terminal.				antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	protein N-terminus binding|SH3/SH2 adaptor activity			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GAGGGACTCCCGGAGACCCTC	0.537000													4	72					0	0	0.00024832	0	0
TNNI3	7137	broad.mit.edu	37	19	55663270	55663270	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:55663270C>G	ENST00000344887.5	-	8	707	c.565G>C	c.(565-567)Gga>Cga	p.G189R	TNNI3_ENST00000588882.1_Missense_Mutation_p.G164R	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	189					cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CGCCAGTCTCCCACCTCCCGG	0.567000													4	90					0	0	3.59834e-05	0	0
ARID1B	57492	broad.mit.edu	37	6	157505535	157505535	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:157505535C>A	ENST00000346085.5	+	13	3517	c.3516C>A	c.(3514-3516)acC>acA	p.T1172T	ARID1B_ENST00000275248.4_Silent_p.T1154T|ARID1B_ENST00000367148.1_Silent_p.T1212T|ARID1B_ENST00000350026.5_Silent_p.T1159T	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1159					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCGGGGACACCAAAAAGCAGC	0.612000													5	48					7.48243e-07	1.3784e-05	0.000442599	1	0
RBL1	5933	broad.mit.edu	37	20	35696536	35696536	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:35696536G>T	ENST00000373664.3	-	3	410	c.344C>A	c.(343-345)cCa>cAa	p.P115Q	RBL1_ENST00000344359.3_Missense_Mutation_p.P115Q	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	115					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				AAATTCTTGTGGTAGATTTGA	0.269000													7	113					0.000673444	0.0084606	0.000673444	1	0
C1orf168	199920	broad.mit.edu	37	1	57257937	57257937	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:57257937C>T	ENST00000343433.6	-	2	629	c.549G>A	c.(547-549)agG>agA	p.R183R	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	183										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CCAGCTTTTTCCTGGGTTCCT	0.478000													9	99					0	0	0.000274275	0	0
KPNA1	3836	broad.mit.edu	37	3	122152632	122152632	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:122152632C>A	ENST00000344337.6	-	12	1302	c.1126G>T	c.(1126-1128)Gtg>Ttg	p.V376L	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)	376	Binding to RAG1.|NLS binding site (minor) (By similarity).				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		GCATCTATCACAGTCTAAAAT	0.308000													5	126					0.000442599	0.00584094	0.000442599	1	0
OSBPL1A	114876	broad.mit.edu	37	18	21894247	21894247	+	Missense_Mutation	SNP	C	C	A	rs34322486		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:21894247C>A	ENST00000319481.3	-	12	1141	c.935G>T	c.(934-936)cGg>cTg	p.R312L		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	312	PH.				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CTTAGGAACCCGGAAGCCATG	0.358000													9	125					0.000673444	0.0084606	0.000673444	1	0
HPS4	89781	broad.mit.edu	37	22	26849216	26849216	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:26849216C>A	ENST00000398145.2	-	14	2726	c.2110G>T	c.(2110-2112)Ggg>Tgg	p.G704W	HPS4_ENST00000398141.1_Missense_Mutation_p.G717W|HPS4_ENST00000402105.3_Missense_Mutation_p.G699W|HPS4_ENST00000493455.2_Intron|HPS4_ENST00000336873.5_Missense_Mutation_p.G704W	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	704					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						AAGTTCACCCCGTGCTTCAGC	0.552000									Hermansky-Pudlak syndrome				7	171					0.000673444	0.0084606	0.000673444	1	0
MAPK9	5601	broad.mit.edu	37	5	179666950	179666950	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:179666950C>G	ENST00000452135.2	-	10	1332	c.1034G>C	c.(1033-1035)aGa>aCa	p.R345T	MAPK9_ENST00000343111.6_Missense_Mutation_p.R345T|MAPK9_ENST00000455781.1_Missense_Mutation_p.R345T|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000393360.3_Missense_Mutation_p.R345T|MAPK9_ENST00000347470.4_Missense_Mutation_p.R260T			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	345					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|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	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCATGTTCTCTTTCTTCCAA	0.343000													4	153					0	0	3.59834e-05	0	0
SCIN	85477	broad.mit.edu	37	7	12692310	12692310	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:12692310G>A	ENST00000297029.5	+	16	2219	c.2118G>A	c.(2116-2118)tgG>tgA	p.W706*	SCIN_ENST00000445618.2_Nonsense_Mutation_p.W459*|SCIN_ENST00000519209.1_Nonsense_Mutation_p.W459*	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	706	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	p.W706C(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TCACAGGCTGGTTCCTGGGCT	0.453000													26	120					0	0	0.000227799	0	0
SYNE2	23224	broad.mit.edu	37	14	64416606	64416606	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:64416606G>T	ENST00000358025.3	+	7	702	c.472G>T	c.(472-474)Gtg>Ttg	p.V158L	SYNE2_ENST00000554584.1_Missense_Mutation_p.V158L|SYNE2_ENST00000356081.3_Missense_Mutation_p.V158L|SYNE2_ENST00000341472.5_Missense_Mutation_p.V158L|SYNE2_ENST00000344113.4_Missense_Mutation_p.V158L|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	158	Actin-binding.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGATGTGAGTGTGGTTGACTC	0.448000													7	271					3.07112e-06	5.5112e-05	6.40141e-05	1	0
KCNB2	9312	broad.mit.edu	37	8	73849102	73849102	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:73849102C>A	ENST00000523207.1	+	3	2100	c.1512C>A	c.(1510-1512)tcC>tcA	p.S504S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	504					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.S504S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AAACAAGCTCCAACAAGTCTT	0.562000													7	162					0.000673444	0.0084606	0.000673444	1	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011400	46011400	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:46011400G>A	ENST00000400368.1	-	1	986	c.966C>T	c.(964-966)tcC>tcT	p.S322S	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	322	29 X 5 AA repeats of C-C-X(3).					keratin filament		p.S322S(5)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						AGGCACCACAGGAGGGGACGG	0.692000													5	107					0	0	3.59834e-05	0	0
PPP3CB	5532	broad.mit.edu	37	10	75231291	75231291	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:75231291G>T	ENST00000360663.5	-	5	715	c.604C>A	c.(604-606)Caa>Aaa	p.Q202K	PPP3CB_ENST00000342558.3_Missense_Mutation_p.Q202K|PPP3CB_ENST00000394828.2_Missense_Mutation_p.Q202K|PPP3CB_ENST00000495897.1_5'UTR|PPP3CB_ENST00000394822.2_Missense_Mutation_p.Q220K|PPP3CB_ENST00000545874.1_Missense_Mutation_p.Q116K|PPP3CB_ENST00000394829.2_Missense_Mutation_p.Q202K			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	202	Catalytic.									breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					AGAAACTGTTGGTTTAAAAGT	0.333000													7	190					0.000442599	0.00584094	0.000442599	1	0
DISP1	84976	broad.mit.edu	37	1	223168257	223168257	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:223168257C>A	ENST00000284476.6	+	7	1084	c.920C>A	c.(919-921)tCa>tAa	p.S307*		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	307					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GTATTTACTTCATCTGGAGGG	0.318000													14	427					1.85244e-09	3.60634e-08	0.00047179	1	0
RAPGEF3	10411	broad.mit.edu	37	12	48145283	48145283	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:48145283T>C	ENST00000405493.2	-	5	484	c.275A>G	c.(274-276)gAg>gGg	p.E92G	RAPGEF3_ENST00000549151.1_Missense_Mutation_p.E92G|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.E134G|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.E134G|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.E92G|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.E92G|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.E134G	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	92					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		ATCCACCAGCTCCCGGCCAGA	0.602000													3	46					0	0	0.000602214	0	0
CLSTN3	9746	broad.mit.edu	37	12	7289700	7289700	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:7289700C>G	ENST00000537408.1	+	6	1778	c.1240C>G	c.(1240-1242)Cag>Gag	p.Q414E	CLSTN3_ENST00000266546.6_Missense_Mutation_p.Q402E			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	402					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TAACACTGTCCAGAATGGTGA	0.547000													4	50					0	0	3.59834e-05	0	0
PDGFRB	5159	broad.mit.edu	37	5	149497307	149497307	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:149497307G>A	ENST00000261799.4	-	22	3480	c.3011C>T	c.(3010-3012)aCc>aTc	p.T1004I		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	1004					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GACGGAGCTGGTGTCCAGGGG	0.617000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								11	79					0	0	0.000673444	0	0
XYLT1	64131	broad.mit.edu	37	16	17211812	17211812	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:17211812C>T	ENST00000261381.6	-	11	2332	c.2248G>A	c.(2248-2250)Gag>Aag	p.E750K		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	750					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.E750*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AATAGCCTCTCCTTGGCATCC	0.572000													7	50					0	0	0.000274275	0	0
ADSSL1	122622	broad.mit.edu	37	14	105208254	105208254	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:105208254C>G	ENST00000332972.5	+	9	1151	c.992C>G	c.(991-993)cCg>cGg	p.P331R	ADSSL1_ENST00000330877.2_Missense_Mutation_p.P288R	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	288	Substrate binding (By similarity).				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	GGCATCCCCCCGCAGAACATA	0.617000													4	62					0	0	3.59834e-05	0	0
OAS2	4939	broad.mit.edu	37	12	113424883	113424883	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:113424883C>T	ENST00000392583.2	+	2	425	c.218C>T	c.(217-219)tCc>tTc	p.S73F	OAS2_ENST00000449768.2_Missense_Mutation_p.S73F|OAS2_ENST00000342315.4_Missense_Mutation_p.S73F|RP1-71H24.1_ENST00000552784.1_RNA	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	73	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	p.S73F(1)		NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AGAGGCAACTCCGATGGTACC	0.468000													15	106					0	0	0.000422831	0	0
CUBN	8029	broad.mit.edu	37	10	16994337	16994337	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:16994337C>G	ENST00000377833.4	-	33	4972	c.4907G>C	c.(4906-4908)cGg>cCg	p.R1636P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1636	CUB 11.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGCAGGGAACCGTGGAGAGGA	0.448000													4	116					0	0	0.00024832	0	0
UBR1	197131	broad.mit.edu	37	15	43352305	43352305	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:43352305C>A	ENST00000290650.4	-	7	884	c.806G>T	c.(805-807)cGg>cTg	p.R269L	UBR1_ENST00000382177.2_Missense_Mutation_p.R269L	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	269					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	p.R269L(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TTTAACAGCCCGACGACCCTA	0.383000													6	219					0.000673444	0.0084606	0.000673444	1	0
CYC1	1537	broad.mit.edu	37	8	145152211	145152211	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:145152211G>C	ENST00000318911.4	+	7	1023	c.950G>C	c.(949-951)cGg>cCg	p.R317P		NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	cytochrome c-1	317					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGAAGAGTCGGAAGCTGGCA	0.572000													4	62					0	0	0.000157383	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177130	89177130	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:89177130G>A	ENST00000561129.2	+	1	176	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.E16K			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	16						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						AAGCCCGGTGGAAAAAGACAG	0.527000													13	98					0	0	0.000219431	0	0
LAMA2	3908	broad.mit.edu	37	6	129637032	129637032	+	Silent	SNP	C	C	T	rs138702650		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:129637032C>T	ENST00000421865.2	+	26	3910	c.3861C>T	c.(3859-3861)atC>atT	p.I1287I		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1287	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.I1287I(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTAGAATTATCGTCAGGCATA	0.418000													28	119					0	0	0.000279167	0	0
KDELR3	11015	broad.mit.edu	37	22	38875643	38875643	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:38875643G>T	ENST00000216014.4	+	3	410	c.238G>T	c.(238-240)Ggg>Tgg	p.G80W	KDELR3_ENST00000409006.3_Missense_Mutation_p.G80W|KDELR3_ENST00000471268.1_3'UTR	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	80					protein retention in ER lumen|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	ER retention sequence binding|receptor activity	p.G80W(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					CATGATATATGGGAAATTCCG	0.428000													8	171					0.000157383	0.00236471	0.000157383	1	0
KMT2C	58508	broad.mit.edu	37	7	151877125	151877125	+	Silent	SNP	G	G	C	rs140215243		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:151877125G>C	ENST00000355193.2	-	37	7454	c.7236C>G	c.(7234-7236)ccC>ccG	p.P2412P	KMT2C_ENST00000262189.6_Silent_p.P2412P					lysine (K)-specific methyltransferase 2C									p.P2412P(4)									GAGGCACTGCGGGTGAGTCCT	0.527000													5	229					0	0	8.12818e-05	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786927	121786927	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:121786927C>A	ENST00000261367.7	+	12	3954	c.2526C>A	c.(2524-2526)ccC>ccA	p.P842P	SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000414317.2_Silent_p.P397P|SNCAIP_ENST00000379533.2_Silent_p.P842P|SNCAIP_ENST00000261368.8_Silent_p.P795P|SNCAIP_ENST00000379538.3_Silent_p.P429P|SNCAIP_ENST00000542191.1_Silent_p.P353P|SNCAIP_ENST00000379536.2_Silent_p.P735P|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	795					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CCACAAGTCCCAAGAGTGCCC	0.537000													6	67					1.06961e-07	2.02547e-06	0.000157383	1	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													7	53					0	0	0.000442599	0	0
HOXB5	3215	broad.mit.edu	37	17	46669648	46669648	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:46669648G>C	ENST00000239151.5	-	2	1011	c.733C>G	c.(733-735)Cgg>Ggg	p.R245G	HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000467155.2_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	245						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						TTCATGCGCCGGTTCTGGAAC	0.612000													4	160					0	0	0.000157383	0	0
ACBD6	84320	broad.mit.edu	37	1	180382607	180382607	+	Splice_Site	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:180382607C>G	ENST00000367595.3	-	5	1155		c.e5-1			NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6							cytoplasm|nucleus	fatty-acyl-CoA binding		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						GTCTTCTTCCCTAGAATAAAA	0.308000													4	116					0	0	0.00024832	0	0
PAFAH1B1	5048	broad.mit.edu	37	17	2579866	2579866	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:2579866G>C	ENST00000397195.5	+	9	1419	c.968G>C	c.(967-969)tGg>tCg	p.W323S	PAFAH1B1_ENST00000451360.2_Intron|PAFAH1B1_ENST00000397193.3_3'UTR	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	323	Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						ATTAAGATGTGGGATGTCAGT	0.368000													4	110					0	0	3.59834e-05	0	0
KIAA2026	158358	broad.mit.edu	37	9	5921984	5921984	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:5921984C>G	ENST00000399933.3	-	8	4011	c.4012G>C	c.(4012-4014)Gga>Cga	p.G1338R	KIAA2026_ENST00000381461.2_Missense_Mutation_p.G1308R	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1338	Ser-rich.									breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		GTAGTTGTTCCAGCTACAGGT	0.423000													5	167					0	0	3.59834e-05	0	0
MDM2	4193	broad.mit.edu	37	12	69203017	69203017	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:69203017C>G	ENST00000462284.1	+	2	346	c.44C>G	c.(43-45)cCt>cGt	p.P15R	MDM2_ENST00000348801.2_Missense_Mutation_p.P4R|MDM2_ENST00000545204.1_Missense_Mutation_p.P9R|MDM2_ENST00000356290.4_Missense_Mutation_p.P9R|MDM2_ENST00000350057.5_Missense_Mutation_p.P9R|MDM2_ENST00000540827.1_Missense_Mutation_p.P9R|MDM2_ENST00000393410.1_Missense_Mutation_p.P9R|MDM2_ENST00000393412.3_Missense_Mutation_p.P9R|MDM2_ENST00000393413.3_Missense_Mutation_p.P9R|MDM2_ENST00000428863.2_Missense_Mutation_p.P9R|MDM2_ENST00000544561.1_Missense_Mutation_p.P9R|MDM2_ENST00000360430.2_Missense_Mutation_p.P9R|MDM2_ENST00000299252.4_Missense_Mutation_p.P9R|MDM2_ENST00000478070.1_Missense_Mutation_p.P4R|MDM2_ENST00000258148.7_Missense_Mutation_p.P15R|MDM2_ENST00000517852.1_Missense_Mutation_p.P9R|MDM2_ENST00000258149.5_Missense_Mutation_p.P9R	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	9	Necessary for interaction with USP2.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	p.P9H(1)|p.P15H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGTCTGTACCTACTGATGGT	0.353000			A		"""sarcoma, glioma, colorectal, other"""								6	409					0	0	0.000274275	0	0
CCDC146	57639	broad.mit.edu	37	7	76916214	76916214	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:76916214G>A	ENST00000285871.4	+	16	2375	c.2248G>A	c.(2248-2250)Gaa>Aaa	p.E750K	CCDC146_ENST00000431197.1_Missense_Mutation_p.E464K|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	750										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AGATCTGACCGAAAAAGAAAT	0.388000													18	78					0	0	0.00074312	0	0
FBXO25	26260	broad.mit.edu	37	8	381441	381441	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:381441C>A	ENST00000276326.5	+	3	354	c.235C>A	c.(235-237)Caa>Aaa	p.Q79K	FBXO25_ENST00000382824.1_Silent_p.L28L|FBXO25_ENST00000352684.2_Silent_p.L28L|FBXO25_ENST00000350302.3_Missense_Mutation_p.Q79K	NM_183421.1	NP_904357.1	Q8TCJ0	FBX25_HUMAN	F-box protein 25	79	Interaction with beta-actin.					nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		CACAAATACTCAAAGTAAGAT	0.264000													7	137					0.000274275	0.0038898	0.000274275	1	0
CDRT15	146822	broad.mit.edu	37	17	14140102	14140102	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:14140102C>T	ENST00000420162.2	-	1	64	c.49G>A	c.(49-51)Gga>Aga	p.G17R	CDRT15_ENST00000431716.2_5'UTR	NM_001007530.1	NP_001007531.1	Q96T59	CDRTF_HUMAN	CMT1A duplicated region transcript 15	17										endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		TCACTCCCTCCATTCCTGAAG	0.562000													7	54					0	0	0.000274275	0	0
AP3M1	26985	broad.mit.edu	37	10	75897981	75897981	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:75897981G>C	ENST00000355264.4	-	2	468	c.157C>G	c.(157-159)Cac>Gac	p.H53D	AP3M1_ENST00000372745.1_Missense_Mutation_p.H53D	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	53					protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					AGGTAGTGGTGAGGTGTTGAA	0.438000													6	96					0	0	3.59834e-05	0	0
BCORL1	63035	broad.mit.edu	37	X	129149195	129149195	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:129149195G>C	ENST00000540052.1	+	3	2491	c.2447G>C	c.(2446-2448)cGg>cCg	p.R816P	BCORL1_ENST00000359304.2_Missense_Mutation_p.R816P|BCORL1_ENST00000303743.5_Missense_Mutation_p.R816P|BCORL1_ENST00000218147.7_Missense_Mutation_p.R816P	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	816					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						ATTTATCCCCGGTGTTCAGTC	0.572000													4	107					0	0	8.12818e-05	0	0
DNAH10	196385	broad.mit.edu	37	12	124256171	124256171	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:124256171G>T	ENST00000409039.3	+	3	164	c.139G>T	c.(139-141)Gaa>Taa	p.E47*		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	47	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACTGAGAACCGAATCTCTAGG	0.408000													5	52					0.000442599	0.00584094	0.000442599	1	0
PAK2	5062	broad.mit.edu	37	3	196534737	196534737	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:196534737C>A	ENST00000327134.3	+	7	983	c.661C>A	c.(661-663)Cag>Aag	p.Q221K		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	221					axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		TTTAGACAAACAGAAAAAGAA	0.373000													6	157					0.000274275	0.0038898	0.000274275	1	0
ACAA2	10449	broad.mit.edu	37	18	47329069	47329069	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:47329069G>T	ENST00000285093.10	-	2	646	c.171C>A	c.(169-171)ggC>ggA	p.G57G	ACAA2_ENST00000589432.1_Silent_p.G2G|ACAA2_ENST00000587994.1_Silent_p.G54G|RP11-886H22.1_ENST00000590532.2_3'UTR	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	57					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			large_intestine(2)|lung(7)|ovary(1)	10						GCAGGACATTGCCCATAATCA	0.403000													7	186					0.000673444	0.0084606	0.000673444	1	0
VEZF1	7716	broad.mit.edu	37	17	56058015	56058015	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:56058015C>G	ENST00000584396.1	-	4	986	c.898G>C	c.(898-900)Ggg>Cgg	p.G300R	VEZF1_ENST00000581208.1_Missense_Mutation_p.G309R			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	309					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						TGGCTCTGCCCATGAGTCTTT	0.433000													4	102					0	0	3.59834e-05	0	0
KDM6A	7403	broad.mit.edu	37	X	44966741	44966741	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:44966741G>A	ENST00000377967.4	+	27	4006	c.3965G>A	c.(3964-3966)cGg>cAg	p.R1322Q	KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000382899.4_Missense_Mutation_p.R1329Q|KDM6A_ENST00000543216.1_Missense_Mutation_p.R1243Q|KDM6A_ENST00000536777.1_Missense_Mutation_p.R1277Q	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1322					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TGGCATGGGCGGACAAAAGAA	0.413000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								5	121					0	0	0.000274275	0	0
TRAF7	84231	broad.mit.edu	37	16	2222336	2222336	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:2222336C>T	ENST00000326181.6	+	8	752	c.620C>T	c.(619-621)cCc>cTc	p.P207L		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	207					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						GAGGTGGACCCCCGAGGGTGC	0.682000													4	25					0	0	3.59834e-05	0	0
COL5A3	50509	broad.mit.edu	37	19	10088086	10088086	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:10088086C>A	ENST00000264828.3	-	43	3274	c.3189G>T	c.(3187-3189)ctG>ctT	p.L1063L		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1063	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CAGGGGGTCCCAGAGGCCCCA	0.652000													7	137					1.58986e-06	2.89309e-05	0.000673444	1	0
STAT2	6773	broad.mit.edu	37	12	56748282	56748282	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:56748282G>C	ENST00000314128.4	-	8	773	c.750C>G	c.(748-750)ccC>ccG	p.P250P	STAT2_ENST00000557235.1_Silent_p.P246P|STAT2_ENST00000418572.2_Silent_p.P246P			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	250					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CGTGGTCAATGGGAGCTCTGA	0.552000													4	108					0	0	3.59834e-05	0	0
COL4A5	1287	broad.mit.edu	37	X	107936108	107936108	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:107936108G>T	ENST00000328300.6	+	50	4903	c.4659G>T	c.(4657-4659)atG>atT	p.M1553I	COL4A5_ENST00000361603.2_Missense_Mutation_p.M1547I	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1547	Collagen IV NC1.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCATGCCAATGAGCATGCAAC	0.443000									Alport syndrome with Diffuse Leiomyomatosis				7	81					0.000673444	0.0084606	0.000673444	1	0
STK24	8428	broad.mit.edu	37	13	99171521	99171521	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:99171521G>T	ENST00000397517.2	-	2	325	c.249C>A	c.(247-249)acC>acA	p.T83T	STK24_ENST00000376547.3_Silent_p.T95T|STK24_ENST00000481288.1_5'UTR|STK24_ENST00000539966.1_Silent_p.T83T	NM_001032296.2	NP_001027467.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	95	Protein kinase.				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CATAATATTTGGTTACATATG	0.438000													8	196					0.000274275	0.0038898	0.000274275	1	0
UBR7	55148	broad.mit.edu	37	14	93685665	93685665	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:93685665C>G	ENST00000013070.6	+	8	1154	c.918C>G	c.(916-918)ccC>ccG	p.P306P	UBR7_ENST00000416753.1_Silent_p.P230P	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	306							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						CCTATTGGCCCCTGAACTGGC	0.433000													3	51					0	0	6.4e-05	0	0
CDH3	1001	broad.mit.edu	37	16	68712430	68712430	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:68712430C>A	ENST00000264012.4	+	5	961	c.417C>A	c.(415-417)acC>acA	p.T139T	CDH3_ENST00000581171.1_Silent_p.T84T|CDH3_ENST00000429102.2_Silent_p.T139T	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	139	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		ATAGAGACACCAAGATTTTCT	0.488000													10	165					3.86212e-05	0.000638159	0.000673444	1	0
RAD23B	5887	broad.mit.edu	37	9	110081063	110081063	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:110081063C>A	ENST00000358015.3	+	6	935	c.584C>A	c.(583-585)aCt>aAt	p.T195N	RAD23B_ENST00000416373.2_Missense_Mutation_p.T123N	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	195	UBA 1.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	p.T195I(1)		breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AATATGGTAACTGAGATCATG	0.408000								Direct reversal of damage;Nucleotide excision repair (NER)					6	143					0.000157383	0.00236471	0.000157383	1	0
KCNF1	3754	broad.mit.edu	37	2	11052795	11052795	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:11052795G>T	ENST00000295082.1	+	1	733	c.243G>T	c.(241-243)agG>agT	p.R81S		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	81						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		ACTTTGACAGGGACCCGGACG	0.577000													5	51					0.000274275	0.0038898	0.000274275	1	0
ACOT11	26027	broad.mit.edu	37	1	55059616	55059616	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:55059616G>C	ENST00000371316.3	+	5	457	c.375G>C	c.(373-375)gtG>gtC	p.V125V	ACOT11_ENST00000343744.2_Silent_p.V125V|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	125	Acyl coenzyme A hydrolase 1.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CTCTCCAGGTGGGCATCCAGG	0.592000													4	71					0	0	3.59834e-05	0	0
GABRQ	55879	broad.mit.edu	37	X	151815516	151815516	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:151815516G>T	ENST00000370306.2	+	4	434	c.414G>T	c.(412-414)ttG>ttT	p.L138F		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	138						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					ATGAGAAGTTGTGGGTCCCTG	0.483000													6	158					0.000442599	0.00584094	0.000442599	1	0
RUNX2	860	broad.mit.edu	37	6	45480097	45480097	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:45480097G>C	ENST00000371438.1	+	6	1332	c.974G>C	c.(973-975)cGg>cCg	p.R325P	RUNX2_ENST00000371432.3_Missense_Mutation_p.R311P|RUNX2_ENST00000541979.1_Missense_Mutation_p.R393P|RUNX2_ENST00000371436.6_Missense_Mutation_p.R325P|RUNX2_ENST00000359524.5_Missense_Mutation_p.R311P|RUNX2_ENST00000576263.1_Missense_Mutation_p.R325P|RUNX2_ENST00000465038.2_Missense_Mutation_p.R325P|RUNX2_ENST00000352853.5_Missense_Mutation_p.R393P	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	325	Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TCTTCCACACGGGGCACTGGG	0.592000													4	65					0	0	3.59834e-05	0	0
ITPR1	3708	broad.mit.edu	37	3	4732948	4732948	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:4732948C>G	ENST00000302640.8	+	31	4254	c.3904C>G	c.(3904-3906)Cag>Gag	p.Q1302E	ITPR1_ENST00000456211.2_Missense_Mutation_p.Q1293E|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Missense_Mutation_p.Q1302E|ITPR1_ENST00000423119.2_Missense_Mutation_p.Q1308E|ITPR1_ENST00000354582.6_Missense_Mutation_p.Q1317E|ITPR1_ENST00000357086.4_Missense_Mutation_p.Q1308E	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1317					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TCGGAATGTCCAGTATATAAA	0.403000													3	41					0	0	0.00024832	0	0
FLG	2312	broad.mit.edu	37	1	152279639	152279639	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:152279639C>A	ENST00000368799.1	-	3	7758	c.7723G>T	c.(7723-7725)Gga>Tga	p.G2575*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2575	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGAGTGTCCCTGACTGTCA	0.577000									Ichthyosis				8	225					7.93312e-07	1.45693e-05	0.000219431	1	0
CSE1L	1434	broad.mit.edu	37	20	47675076	47675076	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:47675076C>A	ENST00000262982.2	+	2	199	c.76C>A	c.(76-78)Cga>Aga	p.R26R	CSE1L_ENST00000542325.1_5'UTR|CSE1L_ENST00000396192.3_Silent_p.R26R	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	26					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TCCTGCCATCCGACGTCCAGG	0.338000													6	243					1.12685e-05	0.000195397	0.000274275	1	0
EEF1A2	1917	broad.mit.edu	37	20	62121949	62121949	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:62121949G>C	ENST00000217182.3	-	6	1077	c.912C>G	c.(910-912)ccC>ccG	p.P304P	EEF1A2_ENST00000298049.7_Silent_p.P304P	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	304						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CGTTGTCGCCGGGCAGAGCTT	0.622000													4	102					0	0	3.59834e-05	0	0
IDE	3416	broad.mit.edu	37	10	94268530	94268530	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:94268530C>G	ENST00000265986.6	-	7	1071	c.1015G>C	c.(1015-1017)Ggg>Cgg	p.G339R		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	339	Substrate binding exosite.				beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCTTCATGCCCAATGAGATGA	0.418000													6	367					0	0	0.000274275	0	0
RALGAPB	57148	broad.mit.edu	37	20	37174901	37174901	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:37174901C>G	ENST00000262879.6	+	19	3014	c.2730C>G	c.(2728-2730)ctC>ctG	p.L910L	RALGAPB_ENST00000397040.1_Silent_p.L910L|RALGAPB_ENST00000397042.3_Silent_p.L906L|RALGAPB_ENST00000397038.1_Silent_p.L688L			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	910					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGCAGTTGCTCGGCGCATTTC	0.428000													4	128					0	0	3.59834e-05	0	0
GK2	2712	broad.mit.edu	37	4	80327889	80327889	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:80327889G>C	ENST00000358842.3	-	1	1483	c.1466C>G	c.(1465-1467)cCa>cGa	p.P489R		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	489					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CTGGATCTGTGGTTCAAATCG	0.517000													4	164					0	0	0.000157383	0	0
IL1RL1	9173	broad.mit.edu	37	2	102965572	102965572	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:102965572C>A	ENST00000233954.1	+	10	1422	c.1151C>A	c.(1150-1152)cCa>cAa	p.P384Q		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	384	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						GTTGTCTACCCACGGAACTAC	0.388000													6	75					1.06961e-07	2.02547e-06	0.000157383	1	0
NBEAL1	65065	broad.mit.edu	37	2	204066384	204066384	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:204066384C>A	ENST00000449802.1	+	49	7603	c.7270C>A	c.(7270-7272)Caa>Aaa	p.Q2424K		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2424							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TAATAGCATTCAAGTGATGTC	0.373000													12	396					0.00074312	0.0093281	0.00074312	1	0
PIGA	5277	broad.mit.edu	37	X	15344087	15344087	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:15344087G>T	ENST00000333590.4	-	3	881	c.797C>A	c.(796-798)cCa>cAa	p.P266Q	PIGA_ENST00000542278.1_Missense_Mutation_p.P32Q|PIGA_ENST00000428964.1_5'UTR|PIGA_ENST00000482148.1_Intron	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	266					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					GATTCTCTTTGGTCCCTCTCC	0.363000													9	279					0.000673444	0.0084606	0.000673444	1	0
CD2BP2	10421	broad.mit.edu	37	16	30364596	30364596	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:30364596C>G	ENST00000305596.3	-	6	996	c.821G>C	c.(820-822)cGg>cCg	p.R274P	CD2BP2_ENST00000569466.1_Missense_Mutation_p.R274P	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	274					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						ACCATCTCCCCGCGACTCTGC	0.572000													5	148					0	0	0.000442599	0	0
COL28A1	340267	broad.mit.edu	37	7	7529089	7529089	+	Splice_Site	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:7529089C>A	ENST00000399429.3	-	13	1236		c.e13-1			NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1						cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CTCTTTCTCCCTAAGAGAAAG	0.388000													6	79					0.000274275	0.0038898	0.000274275	1	0
PIK3C2G	5288	broad.mit.edu	37	12	18491419	18491419	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:18491419G>T	ENST00000433979.1	+	9	1448	c.1332G>T	c.(1330-1332)gtG>gtT	p.V444V	PIK3C2G_ENST00000538779.1_Silent_p.V444V|PIK3C2G_ENST00000266497.5_Silent_p.V444V|PIK3C2G_ENST00000535651.1_Silent_p.V444V	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	444					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TAGGGTGTGTGGAAACCAAAC	0.299000													8	135					0.000274275	0.0038898	0.000274275	1	0
COPS6	10980	broad.mit.edu	37	7	99689103	99689103	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:99689103C>G	ENST00000303904.3	+	9	840	c.803C>G	c.(802-804)cCg>cGg	p.P268R	COPS6_ENST00000418625.1_Missense_Mutation_p.P267R	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	268	Interaction with Vpr.				cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding	p.P268Q(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CACTGTCTCCCGGTGCTCAGC	0.493000											OREG0018195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	157					0	0	8.12818e-05	0	0
SOX30	11063	broad.mit.edu	37	5	157073783	157073783	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:157073783G>C	ENST00000265007.6	-	3	1590	c.1249C>G	c.(1249-1251)Cct>Gct	p.P417A	SOX30_ENST00000519442.1_Missense_Mutation_p.P112A|SOX30_ENST00000311371.5_Missense_Mutation_p.P417A	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	417					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACACTTAGAGGGAATCGTTTT	0.378000													4	87					0	0	0.00024832	0	0
PTPRG	5793	broad.mit.edu	37	3	62253098	62253098	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:62253098G>C	ENST00000474889.1	+	18	3047	c.2670G>C	c.(2668-2670)agG>agC	p.R890S	PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.R861S|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	890	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ATCACAGTAGGGTGAAGTTAA	0.338000													5	187					0	0	0.000157383	0	0
SORT1	6272	broad.mit.edu	37	1	109870143	109870143	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:109870143G>T	ENST00000256637.6	-	12	1510	c.1452C>A	c.(1450-1452)gcC>gcA	p.A484A	SORT1_ENST00000538502.1_Silent_p.A347A	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	484					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled	p.A484A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		CAATGCCTACGGCATTCGGCT	0.498000													6	219					1.06961e-07	2.02547e-06	0.000157383	1	0
HPSE	10855	broad.mit.edu	37	4	84240499	84240499	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:84240499G>T	ENST00000405413.2	-	4	633	c.497C>A	c.(496-498)tCa>tAa	p.S166*	HPSE_ENST00000512196.1_Nonsense_Mutation_p.S166*|HPSE_ENST00000311412.5_Nonsense_Mutation_p.S166*|HPSE_ENST00000513463.1_Nonsense_Mutation_p.S166*	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	166					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	TTTCTTACTTGAGTAGGTGCT	0.468000													8	158					1.5842e-08	3.05422e-07	0.000151284	1	0
DUOX1	53905	broad.mit.edu	37	15	45454533	45454533	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:45454533G>C	ENST00000321429.4	+	32	4613	c.4206G>C	c.(4204-4206)ctG>ctC	p.L1402L	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Silent_p.L1402L|DUOX1_ENST00000561166.1_Silent_p.L1048L	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1402					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TCAAAGACCTGGTCTTCAAGT	0.547000													4	92					0	0	3.59834e-05	0	0
ATP4A	495	broad.mit.edu	37	19	36054128	36054128	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:36054128G>T	ENST00000262623.3	-	3	227	c.199C>A	c.(199-201)Cag>Aag	p.Q67K		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	67					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)	GCACTGGTCTGGTATTTCTGT	0.632000													8	200					0.000673444	0.0084606	0.000673444	1	0
C1orf189	388701	broad.mit.edu	37	1	154173005	154173005	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:154173005G>T	ENST00000368525.3	-	3	159	c.134C>A	c.(133-135)cCg>cAg	p.P45Q		NM_001010979.1	NP_001010979.1	Q5VU69	CA189_HUMAN	chromosome 1 open reading frame 189	45										kidney(1)|large_intestine(3)|lung(1)|skin(2)	7	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					GGTGGCATACGGGTTTCTTCT	0.517000													6	169					0.000274275	0.0038898	0.000274275	1	0
ZNF566	84924	broad.mit.edu	37	19	36940499	36940499	+	Silent	SNP	T	T	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:36940499T>G	ENST00000454319.1	-	5	774	c.640A>C	c.(640-642)Aga>Cga	p.R214R	ZNF566_ENST00000392170.2_Silent_p.R214R|ZNF566_ENST00000424129.2_Silent_p.R213R|ZNF566_ENST00000493391.1_Silent_p.R109R|ZNF566_ENST00000434377.2_Silent_p.R213R	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					TGAGTGAGTCTTGAGGGATGT	0.388000													4	139					0	0	0.00024832	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202531986	202531986	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:202531986G>C	ENST00000406302.3	+	20	2741	c.2588G>C	c.(2587-2589)cGg>cCg	p.R863P	PPP1R12B_ENST00000391959.3_Missense_Mutation_p.R89P|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.R863P|PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000367270.4_Missense_Mutation_p.R89P	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	863					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			CGGGAGGCCCGGGAGGCCCGC	0.498000													4	117					0	0	0.00024832	0	0
ABCC8	6833	broad.mit.edu	37	11	17426071	17426071	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:17426071C>A	ENST00000302539.4	-	28	3673	c.3548G>T	c.(3547-3549)cGg>cTg	p.R1183L	ABCC8_ENST00000389817.3_Missense_Mutation_p.R1182L	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1182	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGACGCCACCCGGAAGTACTT	0.557000													6	147					0.000442599	0.00584094	0.000442599	1	0
ANKMY2	57037	broad.mit.edu	37	7	16685168	16685168	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:16685168G>C	ENST00000306999.2	-	1	274	c.31C>G	c.(31-33)Cag>Gag	p.Q11E		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	11						cilium	zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TTCTCCTCCTGGGTCAGCTCG	0.587000													4	189					0	0	8.12818e-05	0	0
AGPAT3	56894	broad.mit.edu	37	21	45389111	45389111	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:45389111C>A	ENST00000398063.2	+	4	953	c.461C>A	c.(460-462)aCc>aAc	p.T154N	AGPAT3_ENST00000327505.2_Missense_Mutation_p.T154N|AGPAT3_ENST00000291572.8_Missense_Mutation_p.T154N|AGPAT3_ENST00000546158.1_Missense_Mutation_p.T154N|AGPAT3_ENST00000398058.1_Missense_Mutation_p.T154N|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398061.1_Missense_Mutation_p.T154N	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	154					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		GACCGGGACACCGTGGTCGAA	0.632000													5	92					0.000157383	0.00236471	0.000157383	1	0
DSCAM	1826	broad.mit.edu	37	21	42080618	42080618	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:42080618C>T	ENST00000400454.1	-	2	600	c.123G>A	c.(121-123)ggG>ggA	p.G41G		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	41	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCACCAGAGTCCCCGTGGTGC	0.577000													19	103					0	0	0.000586117	0	0
HMGCR	3156	broad.mit.edu	37	5	74654481	74654481	+	Splice_Site	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:74654481G>C	ENST00000287936.4	+	16	2142		c.e16-1		HMGCR_ENST00000511206.1_Splice_Site|HMGCR_ENST00000343975.5_Splice_Site	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase						cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CTTGTTAACAGGGTACAGAGA	0.348000													6	173					0	0	0.000157383	0	0
CLU	1191	broad.mit.edu	37	8	27464035	27464035	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:27464035G>T	ENST00000316403.10	-	4	658	c.253C>A	c.(253-255)Cta>Ata	p.L85I	CLU_ENST00000546343.1_Missense_Mutation_p.L96I|CLU_ENST00000560366.1_Missense_Mutation_p.L137I|CLU_ENST00000405140.3_Missense_Mutation_p.L85I|CLU_ENST00000523500.1_Missense_Mutation_p.L85I			P10909	CLUS_HUMAN	clusterin	85					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		GTCTCATTTAGGGCATCCTAC	0.572000													6	94					0.000157383	0.00236471	0.000157383	1	0
C8orf34	116328	broad.mit.edu	37	8	69445336	69445336	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:69445336G>T	ENST00000337103.4	+	6	2316	c.724G>T	c.(724-726)Gta>Tta	p.V242L	C8orf34_ENST00000539993.1_Missense_Mutation_p.V267L|C8orf34_ENST00000518698.1_Missense_Mutation_p.V353L|C8orf34_ENST00000348340.2_Missense_Mutation_p.V267L			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	267					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TACCCCATCTGTAACAGAAGA	0.353000													5	94					0.000157383	0.00236471	0.000157383	1	0
EXOC8	149371	broad.mit.edu	37	1	231472954	231472954	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:231472954C>A	ENST00000366645.1	-	1	644	c.526G>T	c.(526-528)Gga>Tga	p.G176*	SPRTN_ENST00000391858.4_5'UTR|EXOC8_ENST00000360394.2_Nonsense_Mutation_p.G180*			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	180					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				AAGTACTGTCCCGGCGTCTCC	0.597000													5	62					8.12818e-05	0.00129777	8.12818e-05	1	0
PTGR2	145482	broad.mit.edu	37	14	74345991	74345991	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:74345991G>C	ENST00000555661.1	+	6	857	c.712G>C	c.(712-714)Gat>Cat	p.D238H	PTGR2_ENST00000554885.1_Missense_Mutation_p.D189H|PTGR2_ENST00000267568.4_Missense_Mutation_p.D238H|PTGR2_ENST00000555228.1_Missense_Mutation_p.D238H|RP5-1021I20.4_ENST00000553813.1_Missense_Mutation_p.D104H			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	238					prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9						TAACATCAGTGATACAGTGAT	0.333000													4	206					0	0	0.000157383	0	0
ALKBH2	121642	broad.mit.edu	37	12	109530566	109530566	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:109530566G>T	ENST00000429722.2	-	2	389	c.26C>A	c.(25-27)gCt>gAt	p.A9D	ALKBH2_ENST00000440112.2_Missense_Mutation_p.A9D|ALKBH2_ENST00000343075.3_Missense_Mutation_p.A9D	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	9					DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.A9V(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	GCCCCCTTGAGCCCCTTTCAC	0.552000								Direct reversal of damage					7	162					0.000673444	0.0084606	0.000673444	1	0
DPY19L2	283417	broad.mit.edu	37	12	63974482	63974482	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:63974482C>T	ENST00000324472.4	-	19	2043	c.1860G>A	c.(1858-1860)caG>caA	p.Q620Q	DPY19L2_ENST00000413230.2_Silent_p.Q67Q	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	620					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AAAGTTCTTCCTGAGGCAAAT	0.338000													10	89					0	0	0.000151284	0	0
ZNF625	90589	broad.mit.edu	37	19	12256438	12256438	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:12256438G>T	ENST00000355738.1	-	4	944	c.595C>A	c.(595-597)Cat>Aat	p.H199N	ZNF625_ENST00000455799.1_3'UTR|ZNF625_ENST00000439556.2_Missense_Mutation_p.H265N|ZNF625_ENST00000542938.1_Missense_Mutation_p.H199N|ZNF625-ZNF20_ENST00000430024.1_Intron			Q96I27	ZN625_HUMAN	zinc finger protein 625	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						GTTATTTTATGTGCATGGAGG	0.428000													6	177					0.000442599	0.00584094	0.000442599	1	0
SLC13A2	9058	broad.mit.edu	37	17	26821471	26821471	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:26821471A>T	ENST00000444914.3	+	9	1816	c.1396A>T	c.(1396-1398)Atg>Ttg	p.M466L	SLC13A2_ENST00000545060.1_Missense_Mutation_p.M374L|SLC13A2_ENST00000314669.5_Missense_Mutation_p.M417L|SLC13A2_ENST00000537681.1_Missense_Mutation_p.M346L	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	417						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GAACCAGAAGATGCCGTGGAA	0.587000											OREG0024276	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	92					0	0	6.40141e-05	0	0
ZFP28	140612	broad.mit.edu	37	19	57066327	57066327	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:57066327G>C	ENST00000301318.3	+	8	2244	c.2173G>C	c.(2173-2175)Ggc>Cgc	p.G725R	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	725					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		ACTGCACACTGGCCAAAGACC	0.413000													6	107					0	0	0.000442599	0	0
BTN3A3	10384	broad.mit.edu	37	6	26451990	26451990	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:26451990G>C	ENST00000244519.2	+	11	1349	c.1106G>C	c.(1105-1107)cGg>cCg	p.R369P	BTN3A3_ENST00000361232.3_Missense_Mutation_p.R320P|BTN3A3_ENST00000339789.4_Missense_Mutation_p.R327P	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	369	B30.2/SPRY.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GAAGAGCCGCGGGATCTGCCA	0.537000													5	102					0	0	3.59834e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9076829	9076829	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:9076829G>A	ENST00000397910.4	-	3	10820	c.10617C>T	c.(10615-10617)tcC>tcT	p.S3539S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3540	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGATGGTGGTGGAGATACCTG	0.542000													16	107					0	0	0.000422831	0	0
GAPDHS	26330	broad.mit.edu	37	19	36035822	36035822	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:36035822G>T	ENST00000222286.4	+	10	1184	c.1068G>T	c.(1066-1068)acG>acT	p.T356T	AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000444728.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	356					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	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)		NADH(DB00157)	TCGTCTCTACGGACTTCCTCG	0.522000													5	74					5.18039e-06	9.2077e-05	0.000157383	1	0
OR4C46	119749	broad.mit.edu	37	11	51515860	51515860	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:51515860G>T	ENST00000328188.1	+	1	579	c.579G>T	c.(577-579)ctG>ctT	p.L193L		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CCCATATGCTGGAACTCTTCA	0.458000													6	111					0.000274275	0.0038898	0.000274275	1	0
CDC42	998	broad.mit.edu	37	1	22413312	22413312	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:22413312C>A	ENST00000344548.3	+	6	690	c.439C>A	c.(439-441)Cgt>Agt	p.R147S	CDC42_ENST00000421089.2_Missense_Mutation_p.R189S|CDC42_ENST00000315554.8_Missense_Mutation_p.R147S|CDC42_ENST00000400259.1_Missense_Mutation_p.R147S|CDC42_ENST00000498236.1_3'UTR	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42	147					actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding	p.R147S(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		AAAGCTGGCCCGTGACCTGAA	0.448000													9	191					2.31682e-05	0.000393952	0.000308642	1	0
ARMC8	25852	broad.mit.edu	37	3	137956376	137956376	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:137956376G>C	ENST00000469044.1	+	9	1009	c.738G>C	c.(736-738)agG>agC	p.R246S	ARMC8_ENST00000461822.1_Missense_Mutation_p.R246S|ARMC8_ENST00000393058.3_Missense_Mutation_p.R236S|ARMC8_ENST00000471453.1_Missense_Mutation_p.R232S|ARMC8_ENST00000470821.1_Missense_Mutation_p.R246S|ARMC8_ENST00000481646.1_Missense_Mutation_p.R232S|ARMC8_ENST00000489213.1_Missense_Mutation_p.R204S|ARMC8_ENST00000358441.2_Missense_Mutation_p.R232S|ARMC8_ENST00000491704.1_Missense_Mutation_p.R204S|ARMC8_ENST00000485396.1_Missense_Mutation_p.R173S|ARMC8_ENST00000538260.1_Missense_Mutation_p.R215S	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	246							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TGTTACAGAGGGATAAGCCTA	0.328000													6	427					0	0	0.000157383	0	0
MUC17	140453	broad.mit.edu	37	7	100681921	100681921	+	Silent	SNP	G	G	C	rs142511454		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:100681921G>C	ENST00000306151.4	+	3	7288	c.7224G>C	c.(7222-7224)ccG>ccC	p.P2408P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2408	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P2408P(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCACCATGCCGGTGGTCAGTT	0.512000													6	311					0	0	0.000157383	0	0
LANCL2	55915	broad.mit.edu	37	7	55492959	55492959	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:55492959G>C	ENST00000254770.2	+	7	1599	c.1021G>C	c.(1021-1023)Gag>Cag	p.E341Q		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	341					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			CTTTAAGGAGGAGAAGTACTT	0.463000													4	120					0	0	0.000157383	0	0
LRRC7	57554	broad.mit.edu	37	1	70503849	70503849	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:70503849G>C	ENST00000310961.5	+	22	2661	c.2243G>C	c.(2242-2244)cGg>cCg	p.R748P	LRRC7_ENST00000035383.5_Missense_Mutation_p.R743P|LRRC7_ENST00000415775.2_Missense_Mutation_p.R27P			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	743						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTCAGCCAGCGGGAGGCTGTT	0.502000													4	102					0	0	0.00024832	0	0
LYZL1	84569	broad.mit.edu	37	10	29578079	29578079	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:29578079G>A	ENST00000375500.3	+	1	90	c.33G>A	c.(31-33)ccG>ccA	p.P11P		NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	0					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				GCCTGTCACCGACTAAGTGGA	0.502000													5	31					0	0	8.12818e-05	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15131923	15131923	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:15131923C>A	ENST00000253699.3	-	5	885	c.272G>T	c.(271-273)tGg>tTg	p.W91L	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.W91L|ZFYVE20_ENST00000435849.3_Missense_Mutation_p.W91L|ZFYVE20_ENST00000449964.2_5'UTR	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	91					blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						CTGGGGTTCCCACATGTAAGG	0.448000													6	111					0.000673444	0.0084606	0.000673444	1	0
ANKRD42	338699	broad.mit.edu	37	11	82938834	82938834	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:82938834G>A	ENST00000260047.6	+	7	1625	c.830G>A	c.(829-831)gGg>gAg	p.G277E	ANKRD42_ENST00000531895.1_Missense_Mutation_p.G278E|ANKRD42_ENST00000393392.2_Missense_Mutation_p.G250E|ANKRD42_ENST00000533342.1_Missense_Mutation_p.G278E			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	250										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GGTGATTTGGGGATGCTTAAG	0.353000													7	135					0	0	6.40141e-05	0	0
DUSP15	128853	broad.mit.edu	37	20	30451729	30451729	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:30451729C>G	ENST00000278979.3	-	5	311	c.235G>C	c.(235-237)Ggg>Cgg	p.G79R	DUSP15_ENST00000486996.1_5'UTR|DUSP15_ENST00000398084.2_5'UTR|DUSP15_ENST00000339738.5_Missense_Mutation_p.G82R|DUSP15_ENST00000493115.1_5'UTR|DUSP15_ENST00000375966.4_Missense_Mutation_p.G79R|DUSP15_ENST00000398083.1_5'UTR			Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	79	Tyrosine-protein phosphatase.					cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGGCAGTTCCCCCCATTAAGG	0.547000													5	83					0	0	0.000602214	0	0
SLU7	10569	broad.mit.edu	37	5	159841344	159841344	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:159841344G>T	ENST00000297151.4	-	3	693	c.306C>A	c.(304-306)taC>taA	p.Y102*		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	102					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACCCCTCTTGTACCATTCTC	0.363000													7	301					1.76689e-08	3.40204e-07	0.000442599	1	0
TOX2	84969	broad.mit.edu	37	20	42694358	42694358	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:42694358C>G	ENST00000358131.5	+	6	1121	c.913C>G	c.(913-915)Cca>Gca	p.P305A	TOX2_ENST00000341197.3_Missense_Mutation_p.P323A|TOX2_ENST00000423191.1_Missense_Mutation_p.P281A|TOX2_ENST00000372999.1_Missense_Mutation_p.P281A|TOX2_ENST00000435864.2_Missense_Mutation_p.P201A	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CCAGAGCTCCCCAGATCAAGG	0.572000													4	182					0	0	0.000602214	0	0
FOLH1B	219595	broad.mit.edu	37	11	89420530	89420530	+	RNA	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:89420530G>A	ENST00000532352.1	+	0	1345							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	p.E178K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AAGCCCTGATGAAGGCTTTGA	0.343000													7	54					0	0	0.000157383	0	0
TTN	7273	broad.mit.edu	37	2	179655492	179655492	+	Silent	SNP	C	C	G	rs138560523		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:179655492C>G	ENST00000589042.1	-	11	1967	c.1743G>C	c.(1741-1743)ccG>ccC	p.P581P	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.P581P|TTN_ENST00000360870.5_Silent_p.P581P|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.P581P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	581							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)			CTTGAGCTCCCGGGACTGTTT	0.413000													4	92					0	0	0.000602214	0	0
NUP93	9688	broad.mit.edu	37	16	56866246	56866246	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:56866246C>G	ENST00000564887.1	+	10	1551	c.922C>G	c.(922-924)Cca>Gca	p.P308A	NUP93_ENST00000308159.5_Missense_Mutation_p.P431A|NUP93_ENST00000569842.1_Missense_Mutation_p.P431A|NUP93_ENST00000542526.1_Missense_Mutation_p.P308A	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	431					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CACCAGCTCCCCACAAGACAG	0.468000													5	117					0	0	0.000442599	0	0
ITGAX	3687	broad.mit.edu	37	16	31374667	31374667	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:31374667G>A	ENST00000268296.4	+	14	1803	c.1682G>A	c.(1681-1683)gGa>gAa	p.G561E	ITGAX_ENST00000562522.1_Missense_Mutation_p.G561E	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	561					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GGAGTCTTGGGACCCAGCATC	0.592000													8	77					0	0	0.000274275	0	0
TGFB2	7042	broad.mit.edu	37	1	218536700	218536700	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:218536700C>T	ENST00000366929.4	+	2	838	c.371C>T	c.(370-372)cCc>cTc	p.P124L	TGFB2_ENST00000366930.4_Intron	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	115					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		GTTACAACACCCTCTGGCTCA	0.458000													11	109					0	0	0.000673444	0	0
TFB1M	51106	broad.mit.edu	37	6	155618104	155618104	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:155618104G>T	ENST00000367166.4	-	4	584	c.529C>A	c.(529-531)Caa>Aaa	p.Q177K		NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		ACTTCCTTTTGAAAAGTCAAA	0.328000													6	105					0.000442599	0.00584094	0.000442599	1	0
PELP1	27043	broad.mit.edu	37	17	4577907	4577907	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:4577907G>C	ENST00000301396.4	-	13	2137	c.1912C>G	c.(1912-1914)Ccc>Gcc	p.P638A	PELP1_ENST00000269230.7_Missense_Mutation_p.P492A|PELP1_ENST00000436683.2_Missense_Mutation_p.P347A|PELP1_ENST00000572293.1_Missense_Mutation_p.P544A|PELP1_ENST00000574876.1_Missense_Mutation_p.P494A			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	494	Pro-rich.				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding	p.P544T(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						AGCTTCTTGGGGGCGCTAGGC	0.592000													4	46					0	0	0.00024832	0	0
LRRC1	55227	broad.mit.edu	37	6	53761345	53761345	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:53761345C>A	ENST00000370888.1	+	5	773	c.496C>A	c.(496-498)Ctt>Att	p.L166I		NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	166						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		TCTTACATATCTTCCTGAGTG	0.333000													8	159					1.08611e-07	2.0528e-06	6.40141e-05	1	0
SBK1	388228	broad.mit.edu	37	16	28330377	28330377	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:28330377G>A	ENST00000341901.4	+	3	1077	c.288G>A	c.(286-288)cgG>cgA	p.R96R		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	96	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						ACTTCCTACGGGAGGTGAGCA	0.517000													29	143					0	0	0.00058488	0	0
IMPG1	3617	broad.mit.edu	37	6	76660673	76660673	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:76660673G>C	ENST00000369950.3	-	13	1619	c.1430C>G	c.(1429-1431)cCa>cGa	p.P477R	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	477					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GGTGAGCCCTGGTACTAGCAT	0.493000													4	54					0	0	3.59834e-05	0	0
XYLB	9942	broad.mit.edu	37	3	38409687	38409687	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:38409687G>T	ENST00000207870.3	+	8	675	c.585G>T	c.(583-585)ttG>ttT	p.L195F	XYLB_ENST00000542835.1_Missense_Mutation_p.L58F	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	195					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		GAATTTCTTTGGTCAGTAGCT	0.488000													8	114					0.000673444	0.0084606	0.000673444	1	0
PXDN	7837	broad.mit.edu	37	2	1653323	1653323	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:1653323C>T	ENST00000252804.4	-	17	2279	c.2229G>A	c.(2227-2229)acG>acA	p.T743T		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	743					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGCCGTCGTGCGTCCGGTACT	0.607000													7	83					0	0	8.12818e-05	0	0
NXF3	56000	broad.mit.edu	37	X	102337934	102337934	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:102337934G>C	ENST00000395065.3	-	7	790	c.689C>G	c.(688-690)cCa>cGa	p.P230R	NXF3_ENST00000425463.2_Missense_Mutation_p.P141R|NXF3_ENST00000425644.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	230						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						AGCCATACCTGGGTAAAATGG	0.498000													6	287					0	0	0.000673444	0	0
MXRA5	25878	broad.mit.edu	37	X	3241350	3241350	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:3241350C>T	ENST00000217939.6	-	5	2530	c.2376G>A	c.(2374-2376)ggG>ggA	p.G792G		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	792						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGAGATTTTTCCCACGGACTT	0.453000													11	127					0	0	0.000673444	0	0
TRIOBP	11078	broad.mit.edu	37	22	38151612	38151612	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:38151612G>T	ENST00000406386.3	+	15	5888	c.5633G>T	c.(5632-5634)tGg>tTg	p.W1878L	TRIOBP_ENST00000407319.2_Missense_Mutation_p.W165L|TRIOBP_ENST00000403663.2_Missense_Mutation_p.W165L|RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1878	PH.				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CGGCGGAACTGGATCGAGGCT	0.577000													5	51					1.12685e-05	0.000195397	0.000274275	1	0
CARS2	79587	broad.mit.edu	37	13	111293901	111293901	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:111293901G>T	ENST00000257347.4	-	15	1741	c.1678C>A	c.(1678-1680)Caa>Aaa	p.Q560K		NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	560					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	GCTGATTTTTGGTCTTTTGTC	0.507000													8	212					2.17888e-05	0.00037262	0.000442599	1	0
KIAA1109	84162	broad.mit.edu	37	4	123201109	123201109	+	Nonsense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:123201109C>G	ENST00000264501.4	+	51	9144	c.8771C>G	c.(8770-8772)tCa>tGa	p.S2924*	KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.S2924*|KIAA1109_ENST00000455637.1_Nonsense_Mutation_p.S2924*			Q2LD37	K1109_HUMAN	KIAA1109	2924					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAACAAATCTCAGACCTAATC	0.393000													4	117					0	0	3.59834e-05	0	0
LGR5	8549	broad.mit.edu	37	12	71947022	71947022	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:71947022C>G	ENST00000266674.5	+	5	909	c.598C>G	c.(598-600)Cac>Gac	p.H200D	LGR5_ENST00000540815.2_Missense_Mutation_p.H200D|LGR5_ENST00000536515.1_Intron			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	200						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CAAAATACACCACATACCAGA	0.433000													5	264					0	0	0.000157383	0	0
NBEAL1	65065	broad.mit.edu	37	2	203991546	203991546	+	Splice_Site	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:203991546G>T	ENST00000449802.1	+	22	3391		c.e22-1			NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1								binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTTTATTTTAGGTCACATACA	0.308000													9	323					0.000151284	0.00236471	0.000151284	1	0
TSPYL6	388951	broad.mit.edu	37	2	54483133	54483133	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:54483133G>C	ENST00000317802.7	-	1	276	c.156C>G	c.(154-156)ccC>ccG	p.P52P	ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000394666.3_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	52					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						CTGGAAGCCGGGGCGGTGGGA	0.607000													4	88					0	0	3.59834e-05	0	0
TNXB	7148	broad.mit.edu	37	6	32062857	32062857	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:32062857G>C	ENST00000375244.3	-	4	2555	c.2354C>G	c.(2353-2355)cCc>cGc	p.P785R	TNXB_ENST00000479795.1_Missense_Mutation_p.P785R|TNXB_ENST00000375247.2_Missense_Mutation_p.P785R			P22105	TENX_HUMAN	tenascin XB	747					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCTCACCGTGGGGATGAACTG	0.587000													5	218					0	0	0.000602214	0	0
GPATCH8	23131	broad.mit.edu	37	17	42475999	42475999	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:42475999C>A	ENST00000434000.1	-	9	3494	c.3212G>T	c.(3211-3213)gGg>gTg	p.G1071V	GPATCH8_ENST00000591680.1_Missense_Mutation_p.G1149V			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1149						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGGGAGCTTCCCTATCAGTGG	0.552000													9	216					2.31682e-05	0.000393952	0.000308642	1	0
PADI3	51702	broad.mit.edu	37	1	17607179	17607179	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:17607179G>A	ENST00000375460.3	+	15	1689	c.1649G>A	c.(1648-1650)tGg>tAg	p.W550*		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	550					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGCATCGACTGGAACCGTGAG	0.592000													8	74					0	0	0.000157383	0	0
MUC6	4588	broad.mit.edu	37	11	1025193	1025193	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:1025193G>C	ENST00000421673.2	-	23	3024	c.2974C>G	c.(2974-2976)Cgt>Ggt	p.R992G		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	992	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGGAGGCACGGGCGATCCTG	0.667000													4	113					0	0	0.000157383	0	0
ZNF615	284370	broad.mit.edu	37	19	52497229	52497229	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:52497229G>C	ENST00000602063.1	-	6	1449	c.1100C>G	c.(1099-1101)aCt>aGt	p.T367S	ZNF615_ENST00000594083.1_Missense_Mutation_p.T378S|ZNF615_ENST00000391795.3_Missense_Mutation_p.T372S|ZNF615_ENST00000598071.1_Missense_Mutation_p.T378S|ZNF615_ENST00000376716.5_Missense_Mutation_p.T367S			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TTTCTCACCAGTATGAGTTCG	0.378000													4	127					0	0	3.59834e-05	0	0
DDI2	84301	broad.mit.edu	37	1	15960047	15960047	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:15960047G>A	ENST00000480945.1	+	4	790	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	207					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GGCAAAGATAGAAGAAGATAT	0.468000													35	227					0	0	0.000589545	0	0
NARG2	79664	broad.mit.edu	37	15	60745926	60745926	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:60745926G>T	ENST00000261520.4	-	9	1235	c.1001C>A	c.(1000-1002)aCt>aAt	p.T334N	NARG2_ENST00000561114.1_Missense_Mutation_p.T334N|NARG2_ENST00000439632.1_Missense_Mutation_p.T197N	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	334						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						CTCTCTCATAGTCATTTTCTT	0.313000													6	156					0.000274275	0.0038898	0.000274275	1	0
RNF25	64320	broad.mit.edu	37	2	219529185	219529185	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:219529185G>A	ENST00000295704.2	-	10	1315	c.875C>T	c.(874-876)gCa>gTa	p.A292V		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	292					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGATAGTTCTGCTGCAAGGGT	0.542000													6	102					0	0	0.000157383	0	0
ITGA6	3655	broad.mit.edu	37	2	173368867	173368867	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:173368867C>A	ENST00000264106.6	+	26	3483	c.3280C>A	c.(3280-3282)Cat>Aat	p.H1094N	ITGA6_ENST00000409532.1_3'UTR|ITGA6_ENST00000409080.1_Missense_Mutation_p.H1055N|ITGA6_ENST00000375221.2_3'UTR|ITGA6_ENST00000343713.4_3'UTR|ITGA6_ENST00000264107.7_3'UTR|AC093818.1_ENST00000450443.1_RNA|AC093818.1_ENST00000442417.1_RNA			P23229	ITA6_HUMAN	integrin, alpha 6	1094					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TCCCCGATACCATGCTGTAAG	0.383000													5	11					8.12818e-05	0.00129777	8.12818e-05	1	0
KIAA0430	9665	broad.mit.edu	37	16	15716963	15716963	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:15716963A>G	ENST00000396368.3	-	11	2494	c.2288T>C	c.(2287-2289)cTt>cCt	p.L763P	KIAA0430_ENST00000540441.2_Intron|KIAA0430_ENST00000344181.3_Intron|KIAA0430_ENST00000548025.1_Missense_Mutation_p.L760P|KIAA0430_ENST00000602337.1_Missense_Mutation_p.L760P|KIAA0430_ENST00000551742.1_Missense_Mutation_p.L763P	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	762						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TCTGTTTAAAAGGTTTGGAGA	0.388000													4	114					0	0	0.00024832	0	0
ZNF259	8882	broad.mit.edu	37	11	116652937	116652937	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:116652937C>A	ENST00000227322.3	-	12	1175	c.1116G>T	c.(1114-1116)ctG>ctT	p.L372L		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN	zinc finger protein 259	372					cell proliferation|signal transduction	cytoplasm|nucleolus				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		AACTGTCGCCCAGTGTGAAAG	0.458000													10	386					0.000308642	0.00436061	0.000308642	1	0
ADAM21P1	145241	broad.mit.edu	37	14	70713577	70713577	+	RNA	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:70713577G>A	ENST00000530196.1	-	0	941					NR_003951.1																						TTGTCATTGGGAAAACATTTC	0.353000													8	72					0	0	0.000157383	0	0
PIP4K2C	79837	broad.mit.edu	37	12	57988951	57988951	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:57988951C>G	ENST00000354947.5	+	3	331	c.315C>G	c.(313-315)ccC>ccG	p.P105P	PIP4K2C_ENST00000540759.2_Silent_p.P105P|PIP4K2C_ENST00000422156.3_Silent_p.P105P|PIP4K2C_ENST00000550465.1_Silent_p.P87P			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	105	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	p.P105P(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					AGTATTGTCCCCAGGTCTTCA	0.428000													5	285					0	0	0.000673444	0	0
WDR81	124997	broad.mit.edu	37	17	1637235	1637235	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:1637235A>T	ENST00000409644.1	+	7	4904	c.4904A>T	c.(4903-4905)cAc>cTc	p.H1635L	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000446363.1_Missense_Mutation_p.H274L|WDR81_ENST00000545662.1_Missense_Mutation_p.H266L|WDR81_ENST00000437219.2_Missense_Mutation_p.H432L|WDR81_ENST00000309182.5_Missense_Mutation_p.H584L|WDR81_ENST00000419248.1_Missense_Mutation_p.H408L	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	408										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCCCACTTTCACTTCCACCAG	0.652000													6	87					0	0	3.59834e-05	0	0
TRPV3	162514	broad.mit.edu	37	17	3427559	3427559	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:3427559C>G	ENST00000301365.4	-	13	1807	c.1676G>C	c.(1675-1677)tGg>tCg	p.W559S	TRPV3_ENST00000572519.1_Missense_Mutation_p.W559S|TRPV3_ENST00000576742.1_Missense_Mutation_p.W559S			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	559						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	CATGTTCGCCCAGCCCAGGGC	0.562000													4	102					0	0	0.00024832	0	0
THAP9	79725	broad.mit.edu	37	4	83839983	83839983	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:83839983G>C	ENST00000302236.5	+	5	2669	c.2618G>C	c.(2617-2619)tGg>tCg	p.W873S	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	873							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				AGGAAACACTGGTCATCTGTA	0.323000													6	140					0	0	0.000157383	0	0
NPC1L1	29881	broad.mit.edu	37	7	44561402	44561402	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:44561402C>A	ENST00000289547.4	-	12	2917	c.2862G>T	c.(2860-2862)gtG>gtT	p.V954V	NPC1L1_ENST00000546276.1_Silent_p.V908V|NPC1L1_ENST00000381160.3_Silent_p.V954V	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	954					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TGAAGTCATCCACCCAGGAGG	0.602000													6	63					0.000274275	0.0038898	0.000274275	1	0
RAVER2	55225	broad.mit.edu	37	1	65296574	65296574	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:65296574C>A	ENST00000294428.3	+	12	2060	c.1982C>A	c.(1981-1983)cCa>cAa	p.P661Q	RAVER2_ENST00000430964.2_Missense_Mutation_p.P200Q|RAVER2_ENST00000371072.4_Missense_Mutation_p.P648Q			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	661						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						ATCTCTGCCCCAGAAGGTGGT	0.383000													7	155					0.000274275	0.0038898	0.000274275	1	0
PLXNB2	23654	broad.mit.edu	37	22	50727178	50727178	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:50727178C>G	ENST00000449103.1	-	5	1514	c.1374G>C	c.(1372-1374)caG>caC	p.Q458H	PLXNB2_ENST00000359337.4_Missense_Mutation_p.Q458H			O15031	PLXB2_HUMAN	plexin B2	458	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCACCTTGTCCTGGGTCATGG	0.607000													3	38					0	0	3.59834e-05	0	0
STAR	6770	broad.mit.edu	37	8	38008309	38008309	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:38008309C>T	ENST00000276449.4	-	1	474	c.28G>A	c.(28-30)Gct>Act	p.A10T	RP11-90P5.2_ENST00000520598.1_RNA	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	10					C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		GAGCTCCCAGCGCACAGCTTG	0.622000													6	103					0	0	0.000157383	0	0
PRRC2A	7916	broad.mit.edu	37	6	31604521	31604521	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:31604521C>G	ENST00000376033.2	+	28	6180	c.5946C>G	c.(5944-5946)ccC>ccG	p.P1982P	PRRC2A_ENST00000376007.4_Silent_p.P1982P	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1982	3 X 50 AA type C repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TGCTTCTACCCATGGTAGACT	0.547000													5	281					0	0	3.59834e-05	0	0
CAMTA1	23261	broad.mit.edu	37	1	6880265	6880265	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:6880265G>T	ENST00000303635.7	+	2	277	c.70G>T	c.(70-72)Gga>Tga	p.G24*	CAMTA1_ENST00000557126.1_Nonsense_Mutation_p.G24*|CAMTA1_ENST00000439411.2_Nonsense_Mutation_p.G24*|CAMTA1_ENST00000467404.2_Intron|CAMTA1_ENST00000476163.1_Intron|CAMTA1_ENST00000473578.1_Nonsense_Mutation_p.G24*	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		tgtattctgcggaacTAGCAC	0.418000			T	WWTR1	epitheliod hemangioendothelioma								6	87					0.000442599	0.00584094	0.000442599	1	0
UNC45A	55898	broad.mit.edu	37	15	91492571	91492571	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:91492571G>A	ENST00000394275.2	+	17	2694	c.1859G>A	c.(1858-1860)cGg>cAg	p.R620Q	UNC45A_ENST00000418476.2_Missense_Mutation_p.R635Q	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	635					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GTGCGGGCTCGGGTGAAGAAG	0.617000													6	220					0	0	0.000157383	0	0
FAT4	79633	broad.mit.edu	37	4	126242336	126242336	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:126242336G>T	ENST00000394329.3	+	1	4783	c.4770G>T	c.(4768-4770)ttG>ttT	p.L1590F		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1590	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTTCAGCGTTGGTGCCTTCAC	0.458000													9	180					0.000308642	0.00436061	0.000308642	1	0
SIDT2	51092	broad.mit.edu	37	11	117062620	117062620	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:117062620G>C	ENST00000324225.4	+	19	2293	c.1762G>C	c.(1762-1764)Gga>Cga	p.G588R	SIDT2_ENST00000431081.2_Missense_Mutation_p.G585R	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	588						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CATGATCGCCGGACTCTGCAT	0.572000													5	138					0	0	8.12818e-05	0	0
TENM4	26011	broad.mit.edu	37	11	78369177	78369177	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:78369177C>A	ENST00000278550.7	-	34	8698	c.8236G>T	c.(8236-8238)Gag>Tag	p.E2746*		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.E2746*(2)									GGGTACTGCTCGACAGAGATC	0.597000													6	153					2.0095e-06	3.63673e-05	8.12818e-05	1	0
CASP8AP2	9994	broad.mit.edu	37	6	90576383	90576383	+	RNA	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:90576383C>A	ENST00000551025.1	+	0	4811							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CAGCAACTACCAGATATGAAA	0.313000													6	60					0.000442599	0.00584094	0.000442599	1	0
TTN	7273	broad.mit.edu	37	2	179639101	179639101	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:179639101C>T	ENST00000589042.1	-	30	7114	c.6890G>A	c.(6889-6891)gGa>gAa	p.G2297E	TTN_ENST00000460472.2_Missense_Mutation_p.G2251E|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G2297E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.G2297E|TTN_ENST00000359218.5_Missense_Mutation_p.G2251E|TTN_ENST00000342175.6_Missense_Mutation_p.G2251E|TTN_ENST00000591111.1_Missense_Mutation_p.G2297E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2015	Ig-like 12.						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)			ATACCATTTTCCTTCTATATT	0.393000													10	74					0	0	0.000442599	0	0
ZNF429	353088	broad.mit.edu	37	19	21719141	21719141	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:21719141C>T	ENST00000358491.4	+	4	494	c.286C>T	c.(286-288)Caa>Taa	p.Q96*	ZNF429_ENST00000597078.1_Intron|ZNF429_ENST00000594022.1_3'UTR	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						AGATTCTTTCCAAAAAGTGAC	0.328000													21	127					0	0	0.000295444	0	0
MGAM	8972	broad.mit.edu	37	7	141797449	141797449	+	Splice_Site	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:141797449G>C	ENST00000475668.2	+	66	7803	c.7749_splice	c.e66+1	p.T2583_splice	MGAM_ENST00000549489.2_Splice_Site_p.T1687_splice			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1687					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATTACTACACGGTAAGTTTTT	0.413000													5	66					0	0	0.000157383	0	0
TRIP10	9322	broad.mit.edu	37	19	6743069	6743069	+	Translation_Start_Site	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:6743069C>A	ENST00000600428.1	+	0	611				TRIP10_ENST00000596758.1_Missense_Mutation_p.R97S|TRIP10_ENST00000596543.1_3'UTR|TRIP10_ENST00000313244.9_Missense_Mutation_p.R97S|TRIP10_ENST00000313285.8_Missense_Mutation_p.R97S			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10						actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						CCTCAGTGTCCGTGTATGTCT	0.532000													5	124					0.000274275	0.0038898	0.000274275	1	0
VPS13B	157680	broad.mit.edu	37	8	100519370	100519370	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:100519370G>C	ENST00000395996.1	+	28	4274	c.4163G>C	c.(4162-4164)gGg>gCg	p.G1388A	VPS13B_ENST00000358544.2_Intron|VPS13B_ENST00000357162.2_Missense_Mutation_p.G1388A			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1388					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCCAGGCCAGGGGAAGGTTGG	0.338000													4	83					0	0	0.00024832	0	0
MST1L	11223	broad.mit.edu	37	1	17084768	17084768	+	RNA	SNP	G	G	C	rs151331911	by1000genomes	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:17084768G>C	ENST00000455405.2	-	0	248																											TAGAGACCCCGCGCAGAAATG	0.572000													3	40					0	0	0.000602214	0	0
BCAS3	54828	broad.mit.edu	37	17	59445849	59445849	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:59445849G>A	ENST00000589222.1	+	23	2655	c.2587G>A	c.(2587-2589)Gga>Aga	p.G863R	BCAS3_ENST00000588462.1_Missense_Mutation_p.G878R|RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000390652.5_Missense_Mutation_p.G878R|BCAS3_ENST00000407086.3_Missense_Mutation_p.G863R|BCAS3_ENST00000408905.3_Missense_Mutation_p.G863R|BCAS3_ENST00000588874.1_Missense_Mutation_p.G634R|BCAS3_ENST00000585812.1_3'UTR|BCAS3_ENST00000585744.1_Missense_Mutation_p.G649R			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	878						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CGTGGGATCCGGAACAGGTAA	0.587000													4	30					0	0	0.00024832	0	0
PKD2L2	27039	broad.mit.edu	37	5	137271551	137271551	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:137271551G>A	ENST00000508638.1	+	11	1489	c.1434G>A	c.(1432-1434)atG>atA	p.M478I	PKD2L2_ENST00000508883.1_Missense_Mutation_p.M579I|PKD2L2_ENST00000290431.5_Missense_Mutation_p.M579I|PKD2L2_ENST00000350250.4_Missense_Mutation_p.M545I|PKD2L2_ENST00000502810.1_Missense_Mutation_p.M557I	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	579						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATTATTCTATGGAAATTCAAG	0.388000													30	144					0	0	0.000191422	0	0
MYH8	4626	broad.mit.edu	37	17	10317756	10317756	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:10317756C>T	ENST00000403437.2	-	10	945	c.851G>A	c.(850-852)aGa>aAa	p.R284K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	284	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATGGTAGCTTCTTTCCGCCTT	0.318000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				13	80					0	0	0.000308642	0	0
LIN7A	8825	broad.mit.edu	37	12	81205358	81205358	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:81205358C>T	ENST00000552864.1	-	5	790	c.588G>A	c.(586-588)atG>atA	p.M196I		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	196					exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						AGCGAGCCTCCATTTCTTCCA	0.502000													8	45					0	0	0.000157383	0	0
ZSCAN25	221785	broad.mit.edu	37	7	99217277	99217277	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:99217277G>T	ENST00000394152.2	+	4	375	c.48G>T	c.(46-48)ttG>ttT	p.L16F	ZSCAN25_ENST00000334715.3_Missense_Mutation_p.L16F|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.L16F	NM_145115.2	NP_660090.2			zinc finger and SCAN domain containing 25									p.L16F(1)									AGCAGCAGTTGGGTATTCCTG	0.527000													8	193					0.000157383	0.00236471	0.000157383	1	0
ATPAF2	91647	broad.mit.edu	37	17	17929669	17929669	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:17929669C>G	ENST00000474627.3	-	4	540	c.386G>C	c.(385-387)cGg>cCg	p.R129P	ATPAF2_ENST00000585101.1_Silent_p.P80P	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	129					proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					CACGGCTGCCCGGATCAGCTG	0.498000													6	153					0	0	6.40141e-05	0	0
PTCHD2	57540	broad.mit.edu	37	1	11585237	11585237	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:11585237C>T	ENST00000294484.6	+	12	2619	c.2481C>T	c.(2479-2481)ttC>ttT	p.F827F	PTCHD2_ENST00000389575.3_Silent_p.F827F	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	827					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCGTAGATTTCCCAGGCACCG	0.567000													15	128					0	0	0.00074312	0	0
CBWD1	55871	broad.mit.edu	37	9	121501	121501	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:121501G>T	ENST00000356521.4	-	15	1242	c.1154C>A	c.(1153-1155)aCa>aAa	p.T385K	CBWD1_ENST00000377400.4_Missense_Mutation_p.T337K|CBWD1_ENST00000314367.10_Missense_Mutation_p.T349K|CBWD1_ENST00000382447.4_Missense_Mutation_p.T366K	NM_018491.3	NP_060961.3	Q9BRT8	CBWD1_HUMAN	COBW domain containing 1	385							ATP binding|protein binding			kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GAAACGTGTTGTCCACTGCTT	0.328000													8	371					5.50884e-06	9.71621e-05	0.00010058	1	0
ROCK2	9475	broad.mit.edu	37	2	11359142	11359142	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:11359142C>A	ENST00000315872.6	-	10	1718	c.1270G>T	c.(1270-1272)Gac>Tac	p.D424Y	ROCK2_ENST00000401753.1_Missense_Mutation_p.D181Y	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	424	AGC-kinase C-terminal.|Interaction with PPP1R12A.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		GATGGAGAGTCACTTAATAAT	0.279000													7	151					0.000442599	0.00584094	0.000442599	1	0
FKBP4	2288	broad.mit.edu	37	12	2906442	2906442	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:2906442G>C	ENST00000001008.4	+	2	431	c.244G>C	c.(244-246)Gga>Cga	p.G82R	RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	82	PPIase FKBP-type 1.				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	CTTTGACCTGGGAAAAGGTAG	0.512000													6	178					0	0	0.000442599	0	0
CNGA3	1261	broad.mit.edu	37	2	99013320	99013320	+	Missense_Mutation	SNP	C	C	A	rs150153987		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:99013320C>A	ENST00000393504.1	+	8	2104	c.1687C>A	c.(1687-1689)Cgc>Agc	p.R563S	CNGA3_ENST00000436404.2_Missense_Mutation_p.R545S|CNGA3_ENST00000272602.2_Missense_Mutation_p.R563S|CNGA3_ENST00000409937.1_Missense_Mutation_p.R567S	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	563			R -> H (in ACHM2; mutant CNGA3 alone or together with the CNGB3 subunit exhibit an increase in apparent affinity for cGMP and an increase in the relative agonist efficacy of cAMP compared with cGMP; cell surface expression levels is significantly reduced).		signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GTCGGGGAACCGCAGGACGGC	0.582000													6	139					0.000442599	0.00584094	0.000442599	1	0
C4orf40	401137	broad.mit.edu	37	4	71021775	71021775	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:71021775G>C	ENST00000344526.5	+	2	245	c.56G>C	c.(55-57)cGg>cCg	p.R19P	C4orf40_ENST00000502294.1_Missense_Mutation_p.R19P|C4orf40_ENST00000502441.2_3'UTR	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	19						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TTTTAGAGACGGTTCCCCTTC	0.264000													4	120					0	0	8.12818e-05	0	0
CIT	11113	broad.mit.edu	37	12	120198832	120198832	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:120198832G>T	ENST00000392521.2	-	20	2387	c.2332C>A	c.(2332-2334)Ctg>Atg	p.L778M	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.L736M	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	736					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TTGTCAGCCAGGTCTTTCTTT	0.493000													7	124					2.17888e-05	0.00037262	0.000442599	1	0
LILRA3	11026	broad.mit.edu	37	19	54803598	54803598	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:54803598C>T	ENST00000391745.1	-	7	593	c.277G>A	c.(277-279)Gag>Aag	p.E93K	LILRA3_ENST00000251390.3_Missense_Mutation_p.E76K|LILRA3_ENST00000391744.3_Missense_Mutation_p.E76K					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TTCACAAGCTCCTGTGGGATC	0.537000													6	61					0	0	8.12818e-05	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713576	70713576	+	RNA	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:70713576G>A	ENST00000530196.1	-	0	942					NR_003951.1																						CTTGTCATTGGGAAAACATTT	0.353000													8	71					0	0	0.000157383	0	0
PARP2	10038	broad.mit.edu	37	14	20825913	20825913	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:20825913G>C	ENST00000250416.5	+	16	1736	c.1709G>C	c.(1708-1710)cGg>cCg	p.R570P	PARP2_ENST00000527915.1_3'UTR|PARP2_ENST00000429687.3_Missense_Mutation_p.R557P	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	570	PARP catalytic.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		GTCCGTATGCGGTACCTTTTA	0.378000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					4	102					0	0	3.59834e-05	0	0
ARSG	22901	broad.mit.edu	37	17	66381205	66381205	+	Splice_Site	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:66381205G>C	ENST00000448504.2	+	9	1779	c.982_splice	c.e9-1	p.G328_splice	ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Splice_Site_p.G164_splice	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	328					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCTCTCACAGGGGGAAGTCCA	0.572000													4	69					0	0	0.00024832	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162579	90162579	+	RNA	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:90162579C>T	ENST00000567960.1	+	0	1315				TUBB8P7_ENST00000564451.1_RNA																							AGGAGTATGCCGAGGAGGAGG	0.512000													6	220					0	0	3.59834e-05	0	0
EXOC6	54536	broad.mit.edu	37	10	94712080	94712080	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:94712080C>A	ENST00000371552.4	+	15	1481	c.1452C>A	c.(1450-1452)taC>taA	p.Y484*	EXOC6_ENST00000371547.4_Nonsense_Mutation_p.Y505*|EXOC6_ENST00000260762.6_Nonsense_Mutation_p.Y489*|EXOC6_ENST00000443748.2_Nonsense_Mutation_p.Y386*	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	489					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				CTCATATTTACATTCAAGTTA	0.313000													9	501					3.86212e-05	0.000638159	0.000673444	1	0
ALG8	79053	broad.mit.edu	37	11	77823718	77823718	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:77823718C>A	ENST00000376156.3	-	8	879	c.876G>T	c.(874-876)ttG>ttT	p.L292F	ALG8_ENST00000299626.5_Missense_Mutation_p.L292F|ALG8_ENST00000532552.2_Intron	NM_001007027.2	NP_001007028.1	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	292					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			GCACTTTGTCCAAAGCATTGT	0.443000													6	61					1.06961e-07	2.02547e-06	0.000157383	1	0
ATIC	471	broad.mit.edu	37	2	216214334	216214334	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:216214334G>T	ENST00000435675.1	+	15	2123	c.1732G>T	c.(1732-1734)Gga>Tga	p.G578*	ATIC_ENST00000236959.9_Nonsense_Mutation_p.G579*|ATIC_ENST00000540518.1_Nonsense_Mutation_p.G520*			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	579					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	CGACGAACTGGGAATCATCCT	0.498000			T	ALK	ALCL								9	111					0.000673444	0.0084606	0.000673444	1	0
STX3	6809	broad.mit.edu	37	11	59540739	59540739	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:59540739C>A	ENST00000535361.1	+	2	633	c.86C>A	c.(85-87)aCg>aAg	p.T29K	STX3_ENST00000300150.7_5'UTR|STX3_ENST00000337979.4_Missense_Mutation_p.T29K|STX3_ENST00000437946.2_5'UTR|STX3_ENST00000529177.1_Missense_Mutation_p.T29K			Q13277	STX3_HUMAN	syntaxin 3	29					cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						ATCGACAACACGGCTTTTATG	0.378000													7	217					0.000442599	0.00584094	0.000442599	1	0
PRSS36	146547	broad.mit.edu	37	16	31154714	31154714	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:31154714C>G	ENST00000268281.4	-	8	1107	c.1049G>C	c.(1048-1050)gGg>gCg	p.G350A	PRSS36_ENST00000418068.2_Missense_Mutation_p.G350A|PRSS36_ENST00000569305.1_Missense_Mutation_p.G350A	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	350	Peptidase S1 2.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CACCAGCGCCCCATGGCAGGG	0.647000													4	82					0	0	0.00024832	0	0
MSH3	4437	broad.mit.edu	37	5	79961052	79961052	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:79961052G>T	ENST00000265081.6	+	3	529	c.449G>T	c.(448-450)aGa>aTa	p.R150I		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	150	Interaction with EXO1.				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CCTCAAAGTAGAGTCCAGACA	0.418000								Mismatch excision repair (MMR)					7	121					0.000442599	0.00584094	0.000442599	1	0
AQP10	89872	broad.mit.edu	37	1	154295829	154295829	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:154295829G>T	ENST00000484864.1	+	4	519	c.483G>T	c.(481-483)ctG>ctT	p.L161L	AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000324978.3_Silent_p.L161L			Q96PS8	AQP10_HUMAN	aquaporin 10	161					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)			ATGGCTTCCTGGATCAGGTAA	0.562000													6	116					0.000157383	0.00236471	0.000157383	1	0
IGHV3-35	28432	broad.mit.edu	37	14	106845730	106845730	+	RNA	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:106845730T>C	ENST00000390617.2	-	0	59																											ATGAATCACCTTTTAAAATAG	0.438000													4	198					0	0	3.59834e-05	0	0
AR	367	broad.mit.edu	37	X	66863242	66863242	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:66863242C>G	ENST00000374690.3	+	2	2285	c.1761C>G	c.(1759-1761)gcC>gcG	p.A587A	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Silent_p.A587A|AR_ENST00000396043.2_Silent_p.A55A|AR_ENST00000504326.1_Silent_p.A587A	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	586	Interaction with HIPK3 (By similarity).		A -> S (in prostate cancer; somatic mutation).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.A397A(1)|p.A587A(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TCAAAAGAGCCGCTGAAGGTA	0.488000									Androgen Insensitivity Syndrome				3	27					0	0	0.00024832	0	0
NPHP1	4867	broad.mit.edu	37	2	110922644	110922644	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:110922644G>T	ENST00000316534.4	-	7	786	c.713C>A	c.(712-714)gCa>gAa	p.A238E	NPHP1_ENST00000417665.1_Missense_Mutation_p.A238E|NPHP1_ENST00000393272.3_Missense_Mutation_p.A238E|NPHP1_ENST00000355301.4_Missense_Mutation_p.A176E|NPHP1_ENST00000445609.2_Missense_Mutation_p.A238E			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	238					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						CTTAACTTCTGCTCCATCTGC	0.348000													6	145					0.000274275	0.0038898	0.000274275	1	0
AKR1B10	57016	broad.mit.edu	37	7	134215404	134215404	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:134215404G>T	ENST00000359579.4	+	2	396	c.76G>T	c.(76-78)Ggc>Tgc	p.G26C	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	26					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						GTCTCCTCTTGGCAAAGTGAA	0.488000													6	137					0.000274275	0.0038898	0.000274275	1	0
GRIA3	2892	broad.mit.edu	37	X	122598809	122598809	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:122598809C>A	ENST00000264357.5	+	13	2462	c.2170C>A	c.(2170-2172)Cga>Aga	p.R724R	GRIA3_ENST00000542149.1_Silent_p.R724R|GRIA3_ENST00000371251.1_Silent_p.R724R|GRIA3_ENST00000371256.5_Silent_p.R724R	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	724					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CGGAGTGGCCCGAGTGCGAAA	0.473000													6	85					0.000157383	0.00236471	0.000157383	1	0
MPV17L	255027	broad.mit.edu	37	16	15501864	15501864	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:15501864C>T	ENST00000287594.6	+	3	559	c.415C>T	c.(415-417)Ctt>Ttt	p.L139F	RP11-1021N1.1_ENST00000568222.1_Intron|MPV17L_ENST00000396385.3_Silent_p.T162T	NM_173803.3	NP_776164.2	Q2QL34	MP17L_HUMAN	MPV17 mitochondrial membrane protein-like	0						integral to membrane|peroxisomal membrane				kidney(2)|large_intestine(1)|skin(1)	4						TCTGGGCCACCTTCATCTGTT	0.498000													9	72					0	0	0.000673444	0	0
BAI1	575	broad.mit.edu	37	8	143562943	143562943	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:143562943G>A	ENST00000517894.1	+	11	2895	c.2001G>A	c.(1999-2001)caG>caA	p.Q667Q	BAI1_ENST00000323289.5_Silent_p.Q667Q			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	667					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					AGGTCATCCAGACACTGGTGG	0.627000													4	18					0	0	0.000602214	0	0
ZBTB12	221527	broad.mit.edu	37	6	31867757	31867757	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:31867757C>T	ENST00000375527.2	-	2	1501	c.1326G>A	c.(1324-1326)acG>acA	p.T442T	C2_ENST00000469372.1_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						CGTTCTCGGCCGTGGTCTTGC	0.682000													5	109					0	0	0.000602214	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20890125	20890125	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:20890125C>A	ENST00000381552.1	+	11	1835	c.1467C>A	c.(1465-1467)ccC>ccA	p.P489P	SLCO1C1_ENST00000545102.1_Silent_p.P371P|SLCO1C1_ENST00000540354.1_Silent_p.P440P|SLCO1C1_ENST00000545604.1_Silent_p.P489P|SLCO1C1_ENST00000266509.2_Silent_p.P489P			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	489	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					AATGGGAACCCATGTGCGGTG	0.383000													5	53					8.12818e-05	0.00129777	8.12818e-05	1	0
PTCHD2	57540	broad.mit.edu	37	1	11586749	11586749	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:11586749C>G	ENST00000294484.6	+	13	2793	c.2655C>G	c.(2653-2655)acC>acG	p.T885T	PTCHD2_ENST00000389575.3_Silent_p.T885T	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	885					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGAAGCTGACCGCTTGTATGT	0.592000													5	141					0	0	3.59834e-05	0	0
LRRC32	2615	broad.mit.edu	37	11	76376961	76376961	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:76376961G>A	ENST00000407242.2	-	2	280	c.38C>T	c.(37-39)aCc>aTc	p.T13I	LRRC32_ENST00000464145.1_5'UTR|LRRC32_ENST00000404995.1_Missense_Mutation_p.T13I|LRRC32_ENST00000260061.5_Missense_Mutation_p.T13I	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	13						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CAGGCCTAGGGTCAGCAGGGC	0.607000													6	106					0	0	6.40141e-05	0	0
RALGAPB	57148	broad.mit.edu	37	20	37154673	37154673	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:37154673C>A	ENST00000262879.6	+	13	2322	c.2038C>A	c.(2038-2040)Caa>Aaa	p.Q680K	RALGAPB_ENST00000397040.1_Missense_Mutation_p.Q680K|RALGAPB_ENST00000397042.3_Missense_Mutation_p.Q680K|RALGAPB_ENST00000397038.1_Missense_Mutation_p.Q458K			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	680					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CAACAACACCCAAATGATATT	0.418000													6	120					0.000274275	0.0038898	0.000274275	1	0
UBE2J1	51465	broad.mit.edu	37	6	90042828	90042828	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:90042828G>T	ENST00000435041.2	-	7	933	c.655C>A	c.(655-657)Cag>Aag	p.Q219K		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	219						endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity			NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		GTAGCACCCTGGAATGTTGTA	0.378000													7	150					0.000442599	0.00584094	0.000442599	1	0
EHBP1	23301	broad.mit.edu	37	2	63215083	63215083	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:63215083G>T	ENST00000263991.5	+	17	3213	c.2731G>T	c.(2731-2733)Gag>Tag	p.E911*	EHBP1_ENST00000431489.1_Intron|EHBP1_ENST00000405015.3_Intron|EHBP1_ENST00000496857.1_Intron|EHBP1_ENST00000405289.1_Nonsense_Mutation_p.E876*|EHBP1_ENST00000354487.3_Nonsense_Mutation_p.E876*	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	911						cytoplasm|membrane		p.E911Q(1)		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)			TGATAATATTGAGATAGATAC	0.318000													7	113					3.09899e-07	5.78755e-06	0.000274275	1	0
TMPRSS15	5651	broad.mit.edu	37	21	19666726	19666726	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:19666726G>T	ENST00000284885.3	-	21	2380	c.2347C>A	c.(2347-2349)Cca>Aca	p.P783T		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	783					proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.P783S(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ACAATCTTTGGGGTGATGTCT	0.458000													12	229					0.000219431	0.00327883	0.000219431	1	0
FAM60A	58516	broad.mit.edu	37	12	31448247	31448247	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:31448247C>G	ENST00000337682.4	-	3	517	c.149G>C	c.(148-150)gGa>gCa	p.G50A	FAM60A_ENST00000542983.1_5'UTR|FAM60A_ENST00000539409.1_Intron|FAM60A_ENST00000395766.1_5'UTR|FAM60A_ENST00000454658.2_Missense_Mutation_p.G50A	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	50										large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					GCAGATGTCTCCTGAACGAGT	0.378000													5	96					0	0	0.000602214	0	0
PARP2	10038	broad.mit.edu	37	14	20823075	20823075	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:20823075G>T	ENST00000527915.1	+	9	915	c.910G>T	c.(910-912)Gaa>Taa	p.E304*	PARP2_ENST00000250416.5_Nonsense_Mutation_p.E304*|PARP2_ENST00000429687.3_Nonsense_Mutation_p.E291*			Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	304	PARP alpha-helical.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		AGCATGCAATGAATTCTACAC	0.473000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					8	143					0.000274275	0.0038898	0.000274275	1	0
RXRG	6258	broad.mit.edu	37	1	165377466	165377466	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:165377466G>T	ENST00000359842.5	-	8	1438	c.1136C>A	c.(1135-1137)cCa>cAa	p.P379Q		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	379	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GCGGTTACCTGGGTTAAAGAG	0.517000													7	79					2.0095e-06	3.63673e-05	8.12818e-05	1	0
MS4A7	58475	broad.mit.edu	37	11	60160255	60160255	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:60160255C>G	ENST00000358246.1	+	5	702	c.509C>G	c.(508-510)cCt>cGt	p.P170R	MS4A7_ENST00000530234.2_Intron|MS4A7_ENST00000534016.1_Missense_Mutation_p.P170R|MS4A7_ENST00000300184.3_Missense_Mutation_p.P215R|MS4A14_ENST00000531787.1_Intron	NM_206938.1|NM_206940.1	NP_996821.1|NP_996823.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	215						integral to membrane	receptor activity	p.N213_G216del(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						TCCAACAACCCTGGGGTGAGT	0.463000													4	88					0	0	3.59834e-05	0	0
MTFMT	123263	broad.mit.edu	37	15	65319171	65319171	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:65319171G>T	ENST00000220058.4	-	2	430	c.417C>A	c.(415-417)ccC>ccA	p.P139P	MTFMT_ENST00000561025.1_5'UTR	NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	139						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	AAACTTACTAGGGAAATTTAA	0.363000													7	131					0.000274275	0.0038898	0.000274275	1	0
TTC39C	125488	broad.mit.edu	37	18	21710287	21710287	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:21710287G>C	ENST00000540918.2	+	7	858	c.608G>C	c.(607-609)cGa>cCa	p.R203P	TTC39C_ENST00000317571.3_Missense_Mutation_p.R510P|TTC39C_ENST00000304621.6_Missense_Mutation_p.R449P			Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	510							binding	p.R449L(1)|p.R510L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TACTTCCAGCGAGCTGTTAAA	0.398000													4	194					0	0	0.00024832	0	0
GPR125	166647	broad.mit.edu	37	4	22390726	22390726	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:22390726C>G	ENST00000334304.5	-	18	2977	c.2708G>C	c.(2707-2709)cGg>cCg	p.R903P	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	903					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TGCGTTTGGCCGACTGCCGTA	0.423000													4	161					0	0	3.59834e-05	0	0
ANO6	196527	broad.mit.edu	37	12	45784232	45784232	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:45784232G>T	ENST00000320560.8	+	12	1539	c.1337G>T	c.(1336-1338)tGg>tTg	p.W446L	ANO6_ENST00000423947.3_Missense_Mutation_p.W467L|ANO6_ENST00000425752.2_Missense_Mutation_p.W446L|ANO6_ENST00000441606.2_Missense_Mutation_p.W428L|ANO6_ENST00000435642.1_Missense_Mutation_p.W446L|ANO6_ENST00000426898.2_3'UTR	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	446					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TTTACTGCCTGGGGAAAATGT	0.328000													8	252					0.000442599	0.00584094	0.000442599	1	0
STK36	27148	broad.mit.edu	37	2	219563494	219563494	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:219563494T>C	ENST00000295709.3	+	26	3506	c.3227T>C	c.(3226-3228)cTg>cCg	p.L1076P	STK36_ENST00000392106.2_Missense_Mutation_p.L1055P|STK36_ENST00000392105.3_Missense_Mutation_p.L1055P|STK36_ENST00000440309.1_Missense_Mutation_p.L1076P	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	1076					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GACCAGCCACTGTTGACCTCC	0.547000													4	157					0	0	3.59834e-05	0	0
KIF26B	55083	broad.mit.edu	37	1	245704090	245704090	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:245704090G>T	ENST00000366518.4	+	2	149	c.45G>T	c.(43-45)ctG>ctT	p.L15L	KIF26B_ENST00000407071.2_Silent_p.L396L			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	396					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGTTAAATCTGTCTTCTAAAA	0.473000													6	261					3.86212e-05	0.000638159	0.000673444	1	0
PRAMEF11	440560	broad.mit.edu	37	1	12887328	12887328	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:12887328T>C	ENST00000535591.1	-	3	724	c.529A>G	c.(529-531)Ata>Gta	p.I177V		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	177								p.I177V(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATGGGCAGTATCCACTTGCAA	0.488000													7	254					0	0	0.000442599	0	0
RHOU	58480	broad.mit.edu	37	1	228879182	228879182	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:228879182C>T	ENST00000366691.3	+	3	1138	c.472C>T	c.(472-474)Cta>Tta	p.L158L		NM_021205.5	NP_067028.1	Q7L0Q8	RHOU_HUMAN	ras homolog family member U	158					regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				CCCCATCATCCTAGTTGGAAC	0.527000													28	170					0	0	0.000720815	0	0
TMEM45A	55076	broad.mit.edu	37	3	100277322	100277322	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:100277322C>T	ENST00000403410.1	+	6	1145	c.525C>T	c.(523-525)gtC>gtT	p.V175V	TMEM45A_ENST00000323523.4_Silent_p.V159V			Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	159						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						TGGTTTTGGTCGTCTTTCTGA	0.483000													19	91					0	0	0.000132079	0	0
ANKFY1	51479	broad.mit.edu	37	17	4098738	4098738	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:4098738C>G	ENST00000341657.4	-	9	1167	c.1132G>C	c.(1132-1134)Ggg>Cgg	p.G378R	ANKFY1_ENST00000433651.1_Missense_Mutation_p.G378R|ANKFY1_ENST00000570535.1_Missense_Mutation_p.G420R|ANKFY1_ENST00000574367.1_Missense_Mutation_p.G378R	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	378						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TATTCATTCCCGGCCATGATG	0.527000													7	298					0	0	6.40141e-05	0	0
PKN3	29941	broad.mit.edu	37	9	131479099	131479099	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:131479099T>G	ENST00000291906.4	+	16	2275	c.1882T>G	c.(1882-1884)Tgc>Ggc	p.C628G	PKN3_ENST00000485301.1_3'UTR	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	628	Protein kinase.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						CCTCCTTGCCTGCTTCCAGAC	0.587000													4	114					0	0	0.00024832	0	0
RGS3	5998	broad.mit.edu	37	9	116299110	116299110	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:116299110C>A	ENST00000374140.2	+	20	2158	c.1949C>A	c.(1948-1950)tCg>tAg	p.S650*	RGS3_ENST00000350696.5_Nonsense_Mutation_p.S650*|RGS3_ENST00000394646.3_Nonsense_Mutation_p.S369*|RGS3_ENST00000462143.1_5'UTR|RGS3_ENST00000374136.1_Nonsense_Mutation_p.S276*|RGS3_ENST00000343817.5_Nonsense_Mutation_p.S369*|RGS3_ENST00000317613.6_Nonsense_Mutation_p.S538*	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	650					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GAAGCGCACTCGCAGGAGCAG	0.587000													7	101					7.48243e-07	1.3784e-05	0.000442599	1	0
RIPK4	54101	broad.mit.edu	37	21	43166929	43166929	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:43166929C>A	ENST00000352483.2	-	5	740	c.676G>T	c.(676-678)Gag>Tag	p.E226*	RIPK4_ENST00000542057.1_Nonsense_Mutation_p.E163*|RIPK4_ENST00000544709.1_Nonsense_Mutation_p.E163*|RIPK4_ENST00000332512.3_Nonsense_Mutation_p.E226*			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	226						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ATGTTCTTCTCATCTGCCAAG	0.657000													6	103					0.000442599	0.00584094	0.000442599	1	0
CIT	11113	broad.mit.edu	37	12	120221811	120221811	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:120221811C>T	ENST00000392521.2	-	12	1501	c.1446G>A	c.(1444-1446)gtG>gtA	p.V482V	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Silent_p.V482V	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	482					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCACAGCCTCCACCTCTGACA	0.512000													6	188					0	0	3.59834e-05	0	0
PAPD5	64282	broad.mit.edu	37	16	50258694	50258694	+	Splice_Site	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:50258694G>T	ENST00000357464.3	+	9	1226	c.1226_splice	c.e9+1	p.S409_splice	PAPD5_ENST00000436909.3_Splice_Site_p.S488_splice|PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000561678.1_Splice_Site_p.S378_splice			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	409					cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		GAAACAGAAAGGTAAAAGTTC	0.388000													8	200					0.000673444	0.0084606	0.000673444	1	0
CCL11	6356	broad.mit.edu	37	17	32612839	32612839	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:32612839C>T	ENST00000305869.3	+	1	153	c.12C>T	c.(10-12)tcC>tcT	p.S4S		NM_002986.2	NP_002977.1	P51671	CCL11_HUMAN	chemokine (C-C motif) ligand 11	4					cell adhesion|cellular calcium ion homeostasis|immune response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|protein phosphorylation|response to radiation|response to virus|signal transduction	extracellular space	chemokine activity			breast(1)|lung(1)|prostate(1)	3	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		TGAAGGTCTCCGCAGCACTTC	0.597000													5	117					0	0	0.000274275	0	0
SLC9B2	133308	broad.mit.edu	37	4	103979102	103979102	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:103979102C>A	ENST00000394785.3	-	4	929	c.298G>T	c.(298-300)Gta>Tta	p.V100L	SLC9B2_ENST00000503103.1_Intron|SLC9B2_ENST00000362026.3_Missense_Mutation_p.V100L|SLC9B2_ENST00000339611.4_Missense_Mutation_p.V100L|SLC9B2_ENST00000503230.1_Intron	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	100					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity										GACCAAACTACAGCCCACAGA	0.353000													6	213					5.18039e-06	9.2077e-05	0.000157383	1	0
COPS6	10980	broad.mit.edu	37	7	99687270	99687270	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:99687270C>A	ENST00000303904.3	+	3	272	c.235C>A	c.(235-237)Cga>Aga	p.R79R	COPS6_ENST00000418625.1_Silent_p.R78R	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	79	MPN.				cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GCAGGAGGGCCGAAATATCGA	0.468000													6	129					0.000157383	0.00236471	0.000157383	1	0
CHRDL1	91851	broad.mit.edu	37	X	109931983	109931983	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:109931983G>C	ENST00000218054.4	-	9	1020	c.824C>G	c.(823-825)cCa>cGa	p.P275R	CHRDL1_ENST00000444321.2_Missense_Mutation_p.P275R|CHRDL1_ENST00000372042.1_Missense_Mutation_p.P276R|CHRDL1_ENST00000482160.1_Missense_Mutation_p.P196R|CHRDL1_ENST00000394797.4_Missense_Mutation_p.P275R|CHRDL1_ENST00000434224.1_Missense_Mutation_p.P196R|CHRDL1_ENST00000372045.1_Missense_Mutation_p.P269R	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	269	VWFC 3.				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						CCGGAGGTTTGGGTGCCAGGA	0.453000													4	184					0	0	0.000602214	0	0
SCAND3	114821	broad.mit.edu	37	6	28540309	28540309	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:28540309C>G	ENST00000452236.2	-	4	3974	c.3357G>C	c.(3355-3357)atG>atC	p.M1119I		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1119					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						tcttcccttgcatagaagcat	0.338000													4	209					0	0	0.00024832	0	0
C1orf101	257044	broad.mit.edu	37	1	244798794	244798794	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:244798794C>T	ENST00000366534.4	+	21	2706	c.2652C>T	c.(2650-2652)ttC>ttT	p.F884F	C1orf101_ENST00000366531.3_Silent_p.F733F|C1orf101_ENST00000366533.4_Silent_p.L832L	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	884						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TTTGCAGTTTCTGTAACCTAA	0.348000													8	79					0	0	0.000442599	0	0
KAT6B	23522	broad.mit.edu	37	10	76602733	76602733	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:76602733C>A	ENST00000287239.4	+	3	607	c.118C>A	c.(118-120)Cat>Aat	p.H40N	KAT6B_ENST00000372711.1_Missense_Mutation_p.H40N|KAT6B_ENST00000372714.1_Missense_Mutation_p.H40N|KAT6B_ENST00000372725.1_Missense_Mutation_p.H40N|KAT6B_ENST00000372724.1_Missense_Mutation_p.H40N	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	40					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										CAGTACTTCCCATGGGTTGGA	0.448000													7	166					0.000274275	0.0038898	0.000274275	1	0
CACNA1I	8911	broad.mit.edu	37	22	40060863	40060863	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:40060863C>G	ENST00000336649.4	+	24	3804	c.3804C>G	c.(3802-3804)gcC>gcG	p.A1268A	CACNA1I_ENST00000400164.3_Silent_p.A1227A|CACNA1I_ENST00000402142.3_Silent_p.A1262A|CACNA1I_ENST00000404898.1_Silent_p.A1227A|CACNA1I_ENST00000401624.1_Silent_p.A1262A|CACNA1I_ENST00000407673.1_Silent_p.A1227A			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1262					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TGGCCTCAGCCGGGGGAGCCA	0.642000													4	39					0	0	3.59834e-05	0	0
SYNJ1	8867	broad.mit.edu	37	21	34038752	34038752	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:34038752G>T	ENST00000382499.2	-	16	2059	c.2060C>A	c.(2059-2061)cCt>cAt	p.P687H	SYNJ1_ENST00000382491.3_Missense_Mutation_p.P643H|SYNJ1_ENST00000357345.3_Missense_Mutation_p.P648H|SYNJ1_ENST00000322229.7_Missense_Mutation_p.P648H|SYNJ1_ENST00000433931.2_Missense_Mutation_p.P687H	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	648	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CCTGATAAAAGGAGCATGCTG	0.398000													9	284					1.58986e-06	2.89309e-05	0.000673444	1	0
PMFBP1	83449	broad.mit.edu	37	16	72166783	72166783	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:72166783C>A	ENST00000537465.1	-	10	1469	c.1311G>T	c.(1309-1311)atG>atT	p.M437I	PMFBP1_ENST00000355636.6_Missense_Mutation_p.M292I|PMFBP1_ENST00000237353.10_Missense_Mutation_p.M437I			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	437										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GTTCTGTGGCCATGCACTGCT	0.517000													7	183					0.000673444	0.0084606	0.000673444	1	0
DENND5A	23258	broad.mit.edu	37	11	9167297	9167297	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:9167297G>T	ENST00000328194.3	-	17	3243	c.2923C>A	c.(2923-2925)Cca>Aca	p.P975T	DENND5A_ENST00000527700.1_Missense_Mutation_p.P318T|DENND5A_ENST00000530044.1_Missense_Mutation_p.P975T	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	975	PLAT.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CAGATCCATGGGTTGGCAGTG	0.483000													7	148					0.000274275	0.0038898	0.000274275	1	0
OR8J3	81168	broad.mit.edu	37	11	55904408	55904408	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:55904408G>T	ENST00000301529.1	-	1	786	c.787C>A	c.(787-789)Caa>Aaa	p.Q263K		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	263					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)					TGGTTGGTTTGGGGCTGCAAA	0.428000													6	128					0.000157383	0.00236471	0.000157383	1	0
KNTC1	9735	broad.mit.edu	37	12	123022896	123022896	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:123022896G>T	ENST00000333479.7	+	4	438	c.261G>T	c.(259-261)gtG>gtT	p.V87V	KNTC1_ENST00000450485.2_Silent_p.V87V	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	87					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ATACTGAAGTGGATGTAGTTG	0.318000													5	38					8.12818e-05	0.00129777	8.12818e-05	1	0
LGR5	8549	broad.mit.edu	37	12	71953398	71953398	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:71953398C>G	ENST00000266674.5	+	7	1060	c.749C>G	c.(748-750)cCc>cGc	p.P250R	LGR5_ENST00000540815.2_Missense_Mutation_p.P250R|LGR5_ENST00000536515.1_Missense_Mutation_p.P178R			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	250						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GATGAATTCCCCACTGCAATT	0.269000													6	333					0	0	0.000157383	0	0
RAD50	10111	broad.mit.edu	37	5	131953890	131953890	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:131953890G>T	ENST00000378823.3	+	21	3694	c.2876G>T	c.(2875-2877)cGg>cTg	p.R959L	RAD50_ENST00000265335.6_Missense_Mutation_p.R1098L	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1098					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	p.R1098Q(1)|p.R959Q(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCACAATTTCGGGATGCTGAG	0.328000								Homologous recombination					10	227					6.40141e-05	0.00104902	6.40141e-05	1	0
LINC00969	440993	broad.mit.edu	37	3	195400799	195400799	+	RNA	SNP	G	G	A	rs7635172	by1000genomes	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:195400799G>A	ENST00000445430.1	+	0	1395																											CAAACTCGCTGTTGGACCTGG	0.597000													5	35					0	0	0.000274275	0	0
CACNA1E	777	broad.mit.edu	37	1	181714493	181714493	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:181714493G>A	ENST00000357570.5	+	26	3894	c.3582G>A	c.(3580-3582)atG>atA	p.M1194I	CACNA1E_ENST00000367567.4_Intron|CACNA1E_ENST00000358338.5_Missense_Mutation_p.M1175I|CACNA1E_ENST00000526775.1_Intron|CACNA1E_ENST00000367573.2_Intron|CACNA1E_ENST00000367570.1_Intron|CACNA1E_ENST00000360108.3_Intron			Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1243					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ttaacagcatgaaattgggag	0.428000													19	87					0	0	0.000295444	0	0
ATP13A4	84239	broad.mit.edu	37	3	193120472	193120472	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:193120472G>C	ENST00000342695.4	-	30	3882	c.3560C>G	c.(3559-3561)cCa>cGa	p.P1187R	ATP13A4_ENST00000400270.2_Missense_Mutation_p.P203R|ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000392443.3_Missense_Mutation_p.P1168R	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1187					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CTCAAATACTGGATTGCTGTA	0.453000													4	75					0	0	8.12818e-05	0	0
SDCBP2	27111	broad.mit.edu	37	20	1293238	1293238	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:1293238G>A	ENST00000360779.3	-	6	726	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	SDCBP2_ENST00000339987.3_Missense_Mutation_p.R185W|SDCBP2_ENST00000381812.1_Missense_Mutation_p.R185W|SDCBP2_ENST00000381808.3_Missense_Mutation_p.R100W	NM_080489.4	NP_536737.3	Q9H190	SDCB2_HUMAN	syndecan binding protein (syntenin) 2	185	PDZ 1.				intracellular signal transduction|intracellular transport|nervous system development	cytoplasm	protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						CACCTGTCCCGAACCACCACG	0.632000													10	46					0	0	0.000442599	0	0
AGGF1	55109	broad.mit.edu	37	5	76348590	76348590	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:76348590C>A	ENST00000312916.7	+	9	1807	c.1425C>A	c.(1423-1425)ggC>ggA	p.G475G		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	475	FHA.				angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		TGGATCAAGGCAGTCAAAATG	0.284000													12	749					1.61879e-10	3.17009e-09	0.00010058	1	0
LIPH	200879	broad.mit.edu	37	3	185232218	185232218	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:185232218G>C	ENST00000296252.4	-	8	1215	c.1074C>G	c.(1072-1074)acC>acG	p.T358T	LIPH_ENST00000424591.2_Silent_p.T324T	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	358					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TGGATTCTGTGGTGTTTCCAG	0.358000													5	380					0	0	0.000602214	0	0
IRS4	8471	broad.mit.edu	37	X	107977625	107977625	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:107977625C>G	ENST00000372129.2	-	1	2026	c.1950G>C	c.(1948-1950)ggG>ggC	p.G650G		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	650						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TGAATCTTCCCCCAGACTTCC	0.498000													5	423					0	0	0.000157383	0	0
MGAT3	4248	broad.mit.edu	37	22	39884189	39884189	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:39884189C>G	ENST00000341184.6	+	2	1052	c.837C>G	c.(835-837)ccC>ccG	p.P279P		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	279					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					ACTTCCCGCCCGGCGGCCGGC	0.677000													4	128					0	0	0.00024832	0	0
THADA	63892	broad.mit.edu	37	2	43779389	43779389	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:43779389C>G	ENST00000405006.4	-	18	3115	c.2764G>C	c.(2764-2766)Ggg>Cgg	p.G922R	THADA_ENST00000402360.2_Missense_Mutation_p.G922R|THADA_ENST00000415080.2_Missense_Mutation_p.G632R|THADA_ENST00000405975.2_Missense_Mutation_p.G922R|THADA_ENST00000330266.7_Missense_Mutation_p.G632R	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	922							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TGGACTCGCCCATACATTGGA	0.418000													6	296					0	0	0.000442599	0	0
ACO1	48	broad.mit.edu	37	9	32407274	32407274	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:32407274C>A	ENST00000379923.1	+	4	319	c.113C>A	c.(112-114)tCg>tAg	p.S38*	ACO1_ENST00000541043.1_5'UTR|ACO1_ENST00000309951.5_Nonsense_Mutation_p.S38*	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	aconitase 1, soluble	38					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TTACCATTTTCGATCAGAGTT	0.383000													5	111					2.7689e-08	5.32103e-07	8.12818e-05	1	0
SNX12	29934	broad.mit.edu	37	X	70281765	70281765	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:70281765C>G	ENST00000374274.3	-	3	430	c.314G>C	c.(313-315)cGa>cCa	p.R105P	SNX12_ENST00000465030.1_Intron|SNX12_ENST00000276105.3_Missense_Mutation_p.R101P	NM_001256185.1|NM_001256188.1|NM_013346.3	NP_001243114.1|NP_001243117.1|NP_037478.2	Q9UMY4	SNX12_HUMAN	sorting nexin 12	105	PX.				cell communication|protein transport	membrane	phosphatidylinositol binding|protein binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	Renal(35;0.156)					TTCATCTCCTCGGAAAGGGAG	0.522000													4	83					0	0	0.00024832	0	0
DOCK1	1793	broad.mit.edu	37	10	129179590	129179590	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:129179590C>G	ENST00000280333.6	+	37	3811	c.3702C>G	c.(3700-3702)acC>acG	p.T1234T		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1234	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ATAACTACACCGAAGCGGCTT	0.363000													4	114					0	0	0.00024832	0	0
GYPA	2993	broad.mit.edu	37	4	145038021	145038021	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:145038021G>A	ENST00000360771.4	-	5	458	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	GYPA_ENST00000324022.10_Missense_Mutation_p.R82C|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000512064.1_Missense_Mutation_p.R102C|GYPA_ENST00000512789.1_Missense_Mutation_p.R50C|GYPA_ENST00000535709.1_Missense_Mutation_p.R89C|GYPA_ENST00000504786.1_Missense_Mutation_p.R83C|GYPB_ENST00000283126.7_Intron|GYPA_ENST00000503627.1_Missense_Mutation_p.R70C	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN	glycophorin A (MNS blood group)	115					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					ATCAGTCGGCGAATACCGTAA	0.368000													8	133					0	0	0.000673444	0	0
NECAP1	25977	broad.mit.edu	37	12	8242812	8242812	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:8242812C>G	ENST00000339754.5	+	3	296	c.218C>G	c.(217-219)cCa>cGa	p.P73R		NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	73					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		GCTCAGGCACCAGTAGAACAA	0.438000													4	148					0	0	3.59834e-05	0	0
UGT8	7368	broad.mit.edu	37	4	115544540	115544540	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:115544540G>C	ENST00000310836.6	+	2	1026	c.504G>C	c.(502-504)gtG>gtC	p.V168V	UGT8_ENST00000394511.3_Silent_p.V168V	NM_001128174.1	NP_001121646.1	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	168					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		CTGCTGAAGTGGGTGCTCCTG	0.448000													4	89					0	0	0.00024832	0	0
DYNC2H1	79659	broad.mit.edu	37	11	102988372	102988372	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:102988372G>C	ENST00000375735.2	+	6	923	c.779G>C	c.(778-780)gGa>gCa	p.G260A	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.G260A|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.G260A	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	260	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GGTTCATTTGGAAGGTTTGTT	0.289000													8	78					0	0	0.000157383	0	0
SETD1A	9739	broad.mit.edu	37	16	30977287	30977287	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:30977287G>C	ENST00000262519.8	+	8	2771	c.2085G>C	c.(2083-2085)caG>caC	p.Q695H		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	695					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						AGCTGCGGCAGGGCAAGGGAT	0.652000													5	80					0	0	8.12818e-05	0	0
PRSS38	339501	broad.mit.edu	37	1	228033728	228033728	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:228033728G>A	ENST00000366757.3	+	5	824	c.800G>A	c.(799-801)cGa>cAa	p.R267Q		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	267	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						AGCTGGGGCCGAGGCTGCTCC	0.512000													14	65					0	0	0.000151284	0	0
FBN1	2200	broad.mit.edu	37	15	48718018	48718018	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:48718018C>T	ENST00000316623.5	-	59	7703	c.7248G>A	c.(7246-7248)ggG>ggA	p.G2416G		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2416	EGF-like 41; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGACACATTCCCCATTTCGGC	0.323000													6	145					0	0	3.59834e-05	0	0
GNS	2799	broad.mit.edu	37	12	65139483	65139483	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:65139483C>G	ENST00000258145.3	-	4	651	c.481G>C	c.(481-483)Gga>Cga	p.G161R	GNS_ENST00000542058.1_Missense_Mutation_p.G141R|GNS_ENST00000418919.2_Missense_Mutation_p.G105R|GNS_ENST00000543646.1_Missense_Mutation_p.G193R	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	161						lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		TGTTCTAGTCCACCTGCATCT	0.423000													4	66					0	0	3.59834e-05	0	0
PRG3	10394	broad.mit.edu	37	11	57146186	57146186	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:57146186G>T	ENST00000287143.2	-	4	584	c.475C>A	c.(475-477)Cag>Aag	p.Q159K		NM_006093.3	NP_006084.2	Q9Y2Y8	PRG3_HUMAN	proteoglycan 3	159	C-type lectin.				basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding			large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						ATCCAGACCTGGGCTTGGTTG	0.493000													11	207					0.000422831	0.00584094	0.000422831	1	0
PIWIL3	440822	broad.mit.edu	37	22	25147427	25147427	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:25147427C>A	ENST00000332271.5	-	9	1432	c.1016G>T	c.(1015-1017)tGg>tTg	p.W339L	PIWIL3_ENST00000533313.1_Missense_Mutation_p.W230L|PIWIL3_ENST00000527701.1_Missense_Mutation_p.W230L|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	339	PAZ.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ATTCTGCTTCCAATCAATATC	0.333000													11	246					3.52763e-06	6.31522e-05	0.000566183	1	0
IQCH	64799	broad.mit.edu	37	15	67636434	67636434	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:67636434C>A	ENST00000335894.4	+	6	608	c.542C>A	c.(541-543)cCa>cAa	p.P181Q	IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000358767.3_Missense_Mutation_p.P8Q	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	181										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		GGGCTGATTCCACCAACAGCA	0.388000													6	90					0.000157383	0.00236471	0.000157383	1	0
CTBP2	1488	broad.mit.edu	37	10	126678261	126678261	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:126678261C>T	ENST00000309035.6	-	9	2914	c.2784G>A	c.(2782-2784)ccG>ccA	p.P928P	CTBP2_ENST00000334808.6_Silent_p.P456P|CTBP2_ENST00000531469.1_Silent_p.P388P|CTBP2_ENST00000411419.2_Silent_p.P388P|CTBP2_ENST00000337195.5_Silent_p.P388P|CTBP2_ENST00000494626.2_Silent_p.P388P	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	388					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CGATGCCTGGCGGATATCTAA	0.542000													8	46					0	0	0.000442599	0	0
DNAH11	8701	broad.mit.edu	37	7	21655874	21655874	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:21655874G>T	ENST00000328843.6	+	22	4090	c.4059G>T	c.(4057-4059)gtG>gtT	p.V1353V	DNAH11_ENST00000409508.3_Silent_p.V1353V			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1353	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGATTCATGTGGAACAGATGG	0.408000									Kartagener syndrome				6	63					0.000157383	0.00236471	0.000157383	1	0
TOMM20L	387990	broad.mit.edu	37	14	58869452	58869452	+	Silent	SNP	C	C	A	rs115598131	by1000genomes	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:58869452C>A	ENST00000360945.2	+	3	277	c.235C>A	c.(235-237)Cgg>Agg	p.R79R	RP11-517O13.1_ENST00000556734.1_RNA	NM_207377.2	NP_997260.1	Q6UXN7	TO20L_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)-like	79					protein targeting	integral to membrane|mitochondrial outer membrane translocase complex				large_intestine(2)|lung(2)	4						GCAAGAGGTACGGATGGGAGA	0.308000													7	363					0.000673444	0.0084606	0.000673444	1	0
NOXRED1	122945	broad.mit.edu	37	14	77873192	77873192	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:77873192T>A	ENST00000380835.2	-	4	723	c.557A>T	c.(556-558)aAt>aTt	p.N186I	NOXRED1_ENST00000298358.3_Missense_Mutation_p.N186I	NM_001113475.2	NP_001106946.1	Q6NXP6	CN148_HUMAN	NADP-dependent oxidoreductase domain containing 1	186					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						CCGCAAGATATTGGTGTGGTT	0.468000													5	24					0	0	0.000602214	0	0
ITGAD	3681	broad.mit.edu	37	16	31422152	31422152	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:31422152C>A	ENST00000389202.2	+	12	1358	c.1309C>A	c.(1309-1311)Cag>Aag	p.Q437K		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	437					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CATCTTCACCCAGGTGTCCAG	0.632000													5	60					8.12818e-05	0.00129777	8.12818e-05	1	0
SGSH	6448	broad.mit.edu	37	17	78184800	78184800	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:78184800G>A	ENST00000326317.6	-	8	1046	c.960C>T	c.(958-960)ccC>ccT	p.P320P	SGSH_ENST00000534910.1_Silent_p.P117P	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	320					proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCAAGATGGTGGGCGTGAGGT	0.652000													4	43					0	0	0.00024832	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303199	151303199	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:151303199C>A	ENST00000370323.4	-	4	1210	c.894G>T	c.(892-894)tgG>tgT	p.W298C	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.W298C	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	298	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTTGGACCCCACAGAAACT	0.527000													7	172					8.12818e-05	0.00129777	8.12818e-05	1	0
GBP3	2635	broad.mit.edu	37	1	89476603	89476603	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:89476603G>T	ENST00000370481.4	-	8	1566	c.1346C>A	c.(1345-1347)cCa>cAa	p.P449Q		NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	449						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		CCCCTTCCTTGGTTCCTCATA	0.448000													6	84					3.09899e-07	5.78755e-06	0.000274275	1	0
SULT1A1	6817	broad.mit.edu	37	16	28620093	28620093	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:28620093C>G	ENST00000395609.1	-	4	842	c.84G>C	c.(82-84)ctG>ctC	p.L28L	SULT1A1_ENST00000569554.1_Silent_p.L28L|SULT1A1_ENST00000395607.1_Silent_p.L28L|SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000314752.7_Silent_p.L28L			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	28					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						GCAGGGGCCCCAGTGCCTCTG	0.647000													4	42					0	0	0.00024832	0	0
DPY19L3	147991	broad.mit.edu	37	19	32968439	32968439	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:32968439C>A	ENST00000342179.5	+	17	1924	c.1709C>A	c.(1708-1710)cCa>cAa	p.P570Q	DPY19L3_ENST00000392250.2_Missense_Mutation_p.P570Q|DPY19L3_ENST00000586987.1_Missense_Mutation_p.P570Q	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	570						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TCTAACACTCCAAGAAAGGCT	0.453000													7	82					0.000442599	0.00584094	0.000442599	1	0
AMER1	139285	broad.mit.edu	37	X	63411447	63411447	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:63411447G>A	ENST00000330258.3	-	2	1992	c.1720C>T	c.(1720-1722)Cgg>Tgg	p.R574W	AMER1_ENST00000374869.3_Missense_Mutation_p.R574W|AMER1_ENST00000403336.1_Missense_Mutation_p.R574W	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									TGCTCCCGCCGAAGCTCCCAA	0.592000													6	82					0	0	3.59834e-05	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712378	140712378	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:140712378C>T	ENST00000517417.1	+	1	2127	c.2127C>T	c.(2125-2127)atC>atT	p.I709I	PCDHGA1_ENST00000378105.3_Silent_p.I709I	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTCGTCATCGTGCTGCTGG	0.667000													34	137					0	0	0.00058488	0	0
STK32C	282974	broad.mit.edu	37	10	134144973	134144973	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:134144973G>T	ENST00000368625.4	-	1	353	c.268C>A	c.(268-270)Ctg>Atg	p.L90M				Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	0							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		CCTCCGTCCAGAGGCAGCCTT	0.572000													6	49					0.000274275	0.0038898	0.000274275	1	0
LYRM7	90624	broad.mit.edu	37	5	130535278	130535278	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:130535278C>G	ENST00000379380.4	+	5	510	c.299C>G	c.(298-300)cCa>cGa	p.P100R	LYRM7_ENST00000507584.1_3'UTR|LYRM7_ENST00000510516.1_Missense_Mutation_p.P49R	NM_181705.2	NP_859056.2	Q5U5X0	LYRM7_HUMAN	LYR motif containing 7	100										upper_aerodigestive_tract(1)	1		all_cancers(142;0.0377)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTGATGCACCAACTCAGAAG	0.323000													4	138					0	0	3.59834e-05	0	0
BAGE2	85319	broad.mit.edu	37	21	11039286	11039286	+	RNA	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:11039286G>C	ENST00000470054.1	-	0	917									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACAGTGATCTGGTGTGTAACG	0.378000													7	513					0	0	0.000157383	0	0
SIDT1	54847	broad.mit.edu	37	3	113342325	113342325	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:113342325G>C	ENST00000264852.4	+	22	2868	c.2142G>C	c.(2140-2142)ctG>ctC	p.L714L	SIDT1_ENST00000393830.3_Silent_p.L719L|SIDT1_ENST00000463226.1_3'UTR	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	714						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CCTACATGCTGGGCATCTTCA	0.562000													5	160					0	0	0.000442599	0	0
HLA-F	3134	broad.mit.edu	37	6	29694860	29694860	+	Missense_Mutation	SNP	C	C	A	rs57486551		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:29694860C>A	ENST00000259951.7	+	7	1293	c.1237C>A	c.(1237-1239)Cgc>Agc	p.R413S	HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000440587.2_Intron	NM_001098479.1	NP_001091949.1	P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	0					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	p.R413C(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GCAAAGCCTTCGCTTTGGCTT	0.488000													6	284					0.000274275	0.0038898	0.000274275	1	0
KIAA0368	23392	broad.mit.edu	37	9	114137453	114137453	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:114137453C>G	ENST00000259335.4	-	39	4583	c.4584G>C	c.(4582-4584)ctG>ctC	p.L1528L	KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000338205.5_Silent_p.L1350L	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CTAGCTCGCCCAGCACTGACA	0.408000													4	54					0	0	8.12818e-05	0	0
UBOX5	22888	broad.mit.edu	37	20	3103990	3103990	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:3103990G>A	ENST00000217173.2	-	2	493	c.22C>T	c.(22-24)Cca>Tca	p.P8S	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Missense_Mutation_p.P8S	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1	O94941	RNF37_HUMAN	U-box domain containing 5	8						nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						CTGAACTGTGGGAGGCAAAGA	0.333000													6	241					0	0	0.000157383	0	0
IFT140	9742	broad.mit.edu	37	16	1570774	1570774	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:1570774G>T	ENST00000426508.2	-	27	3852	c.3489C>A	c.(3487-3489)aaC>aaA	p.N1163K	IFT140_ENST00000361339.5_Missense_Mutation_p.N357K	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	1163										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TGATGCTCATGTTCTGCCCCA	0.632000													4	34					0.000157383	0.00236471	0.000157383	1	0
CACNA1E	777	broad.mit.edu	37	1	181548311	181548311	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:181548311G>T	ENST00000526775.1	+	5	885	c.720G>T	c.(718-720)ttG>ttT	p.L240F	CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Missense_Mutation_p.L191F|CACNA1E_ENST00000358338.5_Missense_Mutation_p.L191F|CACNA1E_ENST00000367573.2_Missense_Mutation_p.L240F|CACNA1E_ENST00000367570.1_Missense_Mutation_p.L240F|CACNA1E_ENST00000360108.3_Missense_Mutation_p.L240F	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	240					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCATTGGTTTGGAGTTCTACA	0.453000													7	215					3.07112e-06	5.5112e-05	6.40141e-05	1	0
PKD1L1	168507	broad.mit.edu	37	7	47884604	47884604	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:47884604G>C	ENST00000289672.2	-	33	5276	c.5226C>G	c.(5224-5226)tcC>tcG	p.S1742S		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1742					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						TCTGTAGCTTGGAAATGTCAC	0.453000													4	74					0	0	0.000157383	0	0
SLC47A1	55244	broad.mit.edu	37	17	19458988	19458988	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:19458988C>A	ENST00000542886.1	+	7	712	c.626C>A	c.(625-627)tCa>tAa	p.S209*	SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000571335.1_Intron|SLC47A1_ENST00000395585.1_Missense_Mutation_p.Q242K|SLC47A1_ENST00000270570.4_Missense_Mutation_p.Q242K|SLC47A1_ENST00000436810.2_Missense_Mutation_p.Q219K|SLC47A1_ENST00000457293.1_Missense_Mutation_p.Q242K			Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	0						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					AAAACTGCATCAAGCTACATG	0.502000													7	90					8.12818e-05	0.00129777	8.12818e-05	1	0
OR2W5	441932	broad.mit.edu	37	1	247654918	247654918	+	RNA	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:247654918G>A	ENST00000522351.1	+	0	549							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GTCCTCAGACGATGCAGCTCT	0.557000													23	82					0	0	0.000229342	0	0
KDM4B	23030	broad.mit.edu	37	19	5082444	5082444	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:5082444G>C	ENST00000159111.4	+	9	1065	c.847G>C	c.(847-849)Ggg>Cgg	p.G283R	KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000536461.1_Missense_Mutation_p.G283R|KDM4B_ENST00000381759.4_Missense_Mutation_p.G283R	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	283	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CTTCAATCACGGGTTCAACTG	0.582000													3	42					0	0	0.00024832	0	0
ZNFX1	57169	broad.mit.edu	37	20	47866247	47866247	+	Splice_Site	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:47866247C>G	ENST00000396105.1	-	14	3560	c.3312_splice	c.e14-1	p.G1105_splice	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Splice_Site_p.G1105_splice	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1105							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGAAGACACCCCCTGACAGGG	0.453000													4	108					0	0	0.00024832	0	0
SDHA	6389	broad.mit.edu	37	5	226067	226067	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:226067C>A	ENST00000264932.6	+	5	641	c.526C>A	c.(526-528)Cag>Aag	p.Q176K	SDHA_ENST00000510361.1_Missense_Mutation_p.Q128K|SDHA_ENST00000504309.1_Missense_Mutation_p.Q176K	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	176					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	ATTTGGTGGACAGAGCCTCAA	0.473000									Familial Paragangliomas				6	138					0.00010058	0.00160074	0.00010058	1	0
TMC1	117531	broad.mit.edu	37	9	75366811	75366811	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:75366811G>C	ENST00000297784.5	+	11	1121	c.581G>C	c.(580-582)tGg>tCg	p.W194S	TMC1_ENST00000396237.3_Missense_Mutation_p.W194S|TMC1_ENST00000340019.3_Missense_Mutation_p.W194S	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	194					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TTCTTGAGATGGATGTATGGA	0.378000													5	240					0	0	0.000442599	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135920605	135920605	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:135920605G>T	ENST00000264158.8	+	22	2583	c.2540G>T	c.(2539-2541)cGg>cTg	p.R847L	RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.R847L|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.R803L|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000487003.1_3'UTR	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	847						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		GCCAGAGCTCGGTCACTAAAA	0.418000													6	150					0.000442599	0.00584094	0.000442599	1	0
CACNA1S	779	broad.mit.edu	37	1	201028386	201028386	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:201028386G>A	ENST00000362061.3	-	27	3682	c.3456C>T	c.(3454-3456)atC>atT	p.I1152I	CACNA1S_ENST00000367338.3_Silent_p.I1152I	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1152					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)	CCACATTGAGGATGTCTGAGA	0.582000													6	57					0	0	0.000157383	0	0
DIDO1	11083	broad.mit.edu	37	20	61513426	61513426	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:61513426C>G	ENST00000266070.4	-	16	4207	c.3882G>C	c.(3880-3882)gcG>gcC	p.A1294A	DIDO1_ENST00000395343.1_Silent_p.A1294A	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1294					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGGAGGCTGCCGCTGCTGTTG	0.597000													4	104					0	0	0.00024832	0	0
IFNAR1	3454	broad.mit.edu	37	21	34727797	34727797	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:34727797C>A	ENST00000270139.3	+	11	1768	c.1616C>A	c.(1615-1617)tCt>tAt	p.S539Y	IFNAR1_ENST00000442357.2_Missense_Mutation_p.S478Y|IFNAR1_ENST00000416947.2_Missense_Mutation_p.S470Y	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	539					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	GGAAATTATTCTAATGAAGAT	0.338000													13	226					8.00594e-06	0.000141038	9.7654e-05	1	0
PPP6R2	9701	broad.mit.edu	37	22	50857387	50857387	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:50857387C>G	ENST00000359139.3	+	7	1104	c.710C>G	c.(709-711)cCg>cGg	p.P237R	PPP6R2_ENST00000395741.3_Missense_Mutation_p.P237R|PPP6R2_ENST00000216061.5_Missense_Mutation_p.P237R|PPP6R2_ENST00000395744.3_Missense_Mutation_p.P237R	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	237						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						GAGCCAGACCCGCTCCTCACA	0.597000													4	91					0	0	8.12818e-05	0	0
HEATR3	55027	broad.mit.edu	37	16	50136331	50136331	+	Silent	SNP	G	G	C	rs150830240	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:50136331G>C	ENST00000299192.7	+	14	2096	c.1905G>C	c.(1903-1905)ccG>ccC	p.P635P	RP11-429P3.5_ENST00000566770.1_RNA|HEATR3_ENST00000285767.4_Silent_p.P549P	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	635							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						AATTCCAGCCGGTCTTTAAAA	0.393000													4	165					0	0	0.000157383	0	0
PRX	57716	broad.mit.edu	37	19	40900148	40900148	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:40900148G>A	ENST00000324001.7	-	7	4381	c.4111C>T	c.(4111-4113)Cgg>Tgg	p.R1371W	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1371					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	p.R1371R(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACCCGGCCCCGGCGACCCGAG	0.701000													5	33					0	0	3.59834e-05	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115527231	115527231	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:115527231C>A	ENST00000361048.1	+	5	679	c.352C>A	c.(352-354)Cac>Aac	p.H118N	PLEKHS1_ENST00000369310.3_Missense_Mutation_p.H112N|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.H30N	NM_024889.4	NP_079165.3			pleckstrin homology domain containing, family S member 1																		CCTCATTGGCCACGACAGGTG	0.383000													6	44					0.000157383	0.00236471	0.000157383	1	0
CCNE2	9134	broad.mit.edu	37	8	95894442	95894442	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:95894442G>C	ENST00000520509.1	-	11	1271	c.1019C>G	c.(1018-1020)cCa>cGa	p.P340R	CCNE2_ENST00000308108.4_Missense_Mutation_p.P340R|CCNE2_ENST00000396133.3_Missense_Mutation_p.P340R			O96020	CCNE2_HUMAN	cyclin E2	340					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					CAGCTTCACTGGACTAGTACT	0.348000													7	485					0	0	0.000157383	0	0
SNX32	254122	broad.mit.edu	37	11	65618233	65618233	+	Silent	SNP	G	G	C	rs139718551	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:65618233G>C	ENST00000308342.6	+	6	935	c.510G>C	c.(508-510)cgG>cgC	p.R170R		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	170					cell communication|protein transport		phosphatidylinositol binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		TGAGTGTCCGGGGGAAGAACA	0.592000													4	43					0	0	3.59834e-05	0	0
SRPX2	27286	broad.mit.edu	37	X	99917209	99917209	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:99917209G>C	ENST00000373004.3	+	4	628	c.200G>C	c.(199-201)gGa>gCa	p.G67A		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	67					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						ATCCAGGATGGAGAAGCCACA	0.478000													4	125					0	0	0.00024832	0	0
SMC6	79677	broad.mit.edu	37	2	17898430	17898430	+	Missense_Mutation	SNP	C	C	A	rs149967721		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:17898430C>A	ENST00000448223.2	-	13	1375	c.1106G>T	c.(1105-1107)cGa>cTa	p.R369L	SMC6_ENST00000381272.4_Missense_Mutation_p.R395L|SMC6_ENST00000402989.1_Missense_Mutation_p.R369L|SMC6_ENST00000351948.4_Missense_Mutation_p.R369L	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	369					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)					GTTTAAGGATCGGTTATATAA	0.318000													5	83					0.000602214	0.00792632	0.000602214	1	0
IL6ST	3572	broad.mit.edu	37	5	55237587	55237587	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:55237587C>A	ENST00000381298.2	-	17	2392	c.2080G>T	c.(2080-2082)Gtg>Ttg	p.V694L	IL6ST_ENST00000381294.3_Missense_Mutation_p.V633L|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000502326.3_Missense_Mutation_p.V694L|IL6ST_ENST00000336909.5_Missense_Mutation_p.V694L|IL6ST_ENST00000381287.4_3'UTR	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	694					interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TCTATTTCCACAACACTTACA	0.323000			O		hepatocellular ca								8	175					1.12685e-05	0.000195397	0.000274275	1	0
PCK1	5105	broad.mit.edu	37	20	56138687	56138687	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:56138687G>C	ENST00000319441.4	+	6	1029	c.865G>C	c.(865-867)Ggg>Cgg	p.G289R	PCK1_ENST00000535860.1_Missense_Mutation_p.G157R|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	289					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.G289W(2)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CAGCGCCTGCGGGAAGACCAA	0.547000													4	80					0	0	0.00024832	0	0
FBN3	84467	broad.mit.edu	37	19	8156383	8156383	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:8156383G>A	ENST00000600128.1	-	48	6411	c.5997C>T	c.(5995-5997)ggC>ggT	p.G1999G	FBN3_ENST00000601739.1_Silent_p.G1999G|FBN3_ENST00000270509.2_Silent_p.G1999G			Q75N90	FBN3_HUMAN	fibrillin 3	1999	EGF-like 32; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGAGGACAAAGCCAGGTGGGC	0.592000													16	71					0	0	9.7654e-05	0	0
DOPEY1	23033	broad.mit.edu	37	6	83806788	83806788	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:83806788C>G	ENST00000349129.2	+	3	352	c.92C>G	c.(91-93)tCc>tGc	p.S31C	DOPEY1_ENST00000369739.3_Missense_Mutation_p.S31C|DOPEY1_ENST00000237163.5_Missense_Mutation_p.S31C|DOPEY1_ENST00000536812.1_Missense_Mutation_p.S31C	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	31					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TTTGAATACTCCAGTGAATGG	0.348000													5	242					0	0	0.000442599	0	0
LHFPL2	10184	broad.mit.edu	37	5	77805809	77805809	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:77805809G>A	ENST00000380345.2	-	4	903	c.228C>T	c.(226-228)ttC>ttT	p.F76F	LHFPL2_ENST00000515007.2_Silent_p.F76F	NM_005779.2	NP_005770.1	Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	76						integral to membrane				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		TGTCCCGCTGGAAGTGCTGCA	0.697000													7	42					0	0	8.12818e-05	0	0
INMT-FAM188B	100526825	broad.mit.edu	37	7	30793423	30793423	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:30793423C>T	ENST00000458257.1	+	2	242	c.228C>T	c.(226-228)tcC>tcT	p.S76S	INMT_ENST00000013222.5_Silent_p.S77S|INMT_ENST00000484180.1_3'UTR|INMT_ENST00000409539.1_Silent_p.S76S																							CCTGTGATTCCTTCCAAGACA	0.567000													16	189					0	0	0.000132079	0	0
STAT3	6774	broad.mit.edu	37	17	40474513	40474513	+	Splice_Site	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:40474513C>G	ENST00000264657.5	-	21	2201		c.e21-1		STAT3_ENST00000588969.1_Splice_Site|STAT3_ENST00000389272.3_Splice_Site|STAT3_ENST00000404395.3_Splice_Site|STAT3_ENST00000585517.1_Splice_Site	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)						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)		TGGGTCTTACCTGTCACAGGA	0.448000									Hyperimmunoglobulin E Recurrent Infection Syndrome				4	149					0	0	0.00024832	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155931526	155931526	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:155931526C>A	ENST00000368316.1	-	15	1780	c.1310G>T	c.(1309-1311)cGa>cTa	p.R437L	ARHGEF2_ENST00000368315.3_Missense_Mutation_p.R466L|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R437L|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R465L|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R464L			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	465					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					AAGTTCCTCTCGGCCAAAGGG	0.607000													5	72					0.000442599	0.00584094	0.000442599	1	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				9	66					0	0	0.000673444	0	0
RNF17	56163	broad.mit.edu	37	13	25356080	25356080	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:25356080C>A	ENST00000255324.5	+	6	661	c.609C>A	c.(607-609)tcC>tcA	p.S203S	RNF17_ENST00000381921.1_Silent_p.S203S|RNF17_ENST00000255325.5_Silent_p.S203S|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	203					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)		TTTTTGATTCCAGGTTAGTAA	0.338000													5	48					8.12818e-05	0.00129777	8.12818e-05	1	0
HECTD1	25831	broad.mit.edu	37	14	31638563	31638563	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:31638563G>A	ENST00000399332.1	-	9	1932	c.1444C>T	c.(1444-1446)Cca>Tca	p.P482S	HECTD1_ENST00000553700.1_Missense_Mutation_p.P482S	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	482					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CTCTCACCTGGAGACTGAAGA	0.393000													15	98					0	0	0.00074312	0	0
SIM2	6493	broad.mit.edu	37	21	38117320	38117320	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:38117320G>C	ENST00000290399.6	+	10	2072	c.1459G>C	c.(1459-1461)Ggt>Cgt	p.G487R	SIM2_ENST00000430056.3_Missense_Mutation_p.G487R	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	487	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GCCAGCCAGCGGTGAATGCCA	0.582000													5	83					0	0	0.000157383	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377554	125377554	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:125377554G>T	ENST00000297913.2	+	1	607	c.538G>T	c.(538-540)Gac>Tac	p.D180Y	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						CTTCTTCTGTGACCTCTACGC	0.493000													7	106					3.09899e-07	5.78755e-06	0.000274275	1	0
HARS	3035	broad.mit.edu	37	5	140056939	140056939	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:140056939G>C	ENST00000504366.1	-	7	2408	c.589C>G	c.(589-591)Cgc>Ggc	p.R197G	HARS_ENST00000504156.1_Missense_Mutation_p.R266G|HARS_ENST00000431330.2_Missense_Mutation_p.R152G|HARS_ENST00000457527.2_Missense_Mutation_p.R246G|HARS_ENST00000307633.3_Missense_Mutation_p.R206G|HARS_ENST00000415192.2_Missense_Mutation_p.R192G|HARS_ENST00000448240.1_Missense_Mutation_p.R71G|HARS_ENST00000438307.2_Missense_Mutation_p.R226G			P12081	SYHC_HUMAN	histidyl-tRNA synthetase	266					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	TCCCCAATGCGGTCAGCCACC	0.572000													5	135					0	0	0.000274275	0	0
HCN1	348980	broad.mit.edu	37	5	45262155	45262155	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:45262155C>A	ENST00000303230.4	-	8	2598	c.2541G>T	c.(2539-2541)tcG>tcT	p.S847S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	847						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.S847S(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGATGGCTCCCGACGACATCT	0.647000													5	89					8.12818e-05	0.00129777	8.12818e-05	1	0
ARHGEF10	9639	broad.mit.edu	37	8	1833827	1833827	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:1833827C>A	ENST00000518288.1	+	12	1374	c.1211C>A	c.(1210-1212)cCg>cAg	p.P404Q	ARHGEF10_ENST00000398564.1_Missense_Mutation_p.P404Q|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.P341Q|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.P379Q|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.P365Q|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.P404Q			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	404					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TGCAAGCACCCGGAAGCCATC	0.443000													5	76					3.59834e-05	0.000600898	3.59834e-05	1	0
TNXB	7148	broad.mit.edu	37	6	32010288	32010288	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:32010288G>C	ENST00000375244.3	-	40	12355	c.12154C>G	c.(12154-12156)Cgc>Ggc	p.R4052G	TNXB_ENST00000375247.2_Missense_Mutation_p.R4050G|TNXB_ENST00000451343.1_Missense_Mutation_p.R481G			P22105	TENX_HUMAN	tenascin XB	4097	Fibronectin type-III 32.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCCGCTCGCGGTTGCCGTTG	0.672000													7	214					0	0	0.000274275	0	0
PNMA3	29944	broad.mit.edu	37	X	152226003	152226003	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:152226003C>A	ENST00000447306.1	+	2	927	c.591C>A	c.(589-591)ccC>ccA	p.P197P	PNMA3_ENST00000370264.4_Silent_p.P197P|PNMA3_ENST00000370265.4_Silent_p.P197P	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	197					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					ggcaggtgcccgagggggaaa	0.577000													7	125					2.17888e-05	0.00037262	0.000442599	1	0
MKLN1	4289	broad.mit.edu	37	7	131072019	131072019	+	Silent	SNP	C	C	G	rs142447184		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:131072019C>G	ENST00000352689.6	+	3	349	c.309C>G	c.(307-309)tcC>tcG	p.S103S	MKLN1_ENST00000421797.2_Silent_p.S11S|MKLN1_ENST00000429546.1_Silent_p.S11S	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	103					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					AGCTGTTGTCCAGGTGAGTTA	0.328000													4	97					0	0	0.000157383	0	0
CNGB3	54714	broad.mit.edu	37	8	87666242	87666242	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:87666242G>A	ENST00000320005.5	-	7	948	c.901C>T	c.(901-903)Cag>Tag	p.Q301*		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	301					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCACCTACCTGAAATTTTGTA	0.299000													14	78					0	0	0.000308642	0	0
WRAP53	55135	broad.mit.edu	37	17	7605023	7605023	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:7605023C>G	ENST00000316024.5	+	6	3219	c.871C>G	c.(871-873)Cag>Gag	p.Q291E	WRAP53_ENST00000534050.1_Missense_Mutation_p.Q258E|WRAP53_ENST00000431639.2_Missense_Mutation_p.Q291E|WRAP53_ENST00000396463.2_Missense_Mutation_p.Q291E|WRAP53_ENST00000457584.2_Missense_Mutation_p.Q291E			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	291					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GGATGGCTCCCAGCTCTTCTG	0.602000													4	84					0	0	3.59834e-05	0	0
CEP250	11190	broad.mit.edu	37	20	34087986	34087986	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:34087986C>A	ENST00000397527.1	+	28	4606	c.3886C>A	c.(3886-3888)Cag>Aag	p.Q1296K	CEP250_ENST00000342580.4_Missense_Mutation_p.Q1240K	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1296	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			ACAGCTCTCCCAGAATCAGGA	0.562000													6	98					0.000157383	0.00236471	0.000157383	1	0
TEX14	56155	broad.mit.edu	37	17	56650588	56650588	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:56650588G>T	ENST00000389934.3	-	24	3702	c.3585C>A	c.(3583-3585)ccC>ccA	p.P1195P	TEX14_ENST00000349033.5_Silent_p.P1155P|TEX14_ENST00000240361.8_Silent_p.P1201P	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	1201						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGTTTATTTTGGGTGTTTTGC	0.453000													8	201					4.68919e-08	8.97658e-07	0.000673444	1	0
FAM174B	400451	broad.mit.edu	37	15	93162676	93162676	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:93162676G>A	ENST00000555748.1	-	3	419	c.66C>T	c.(64-66)ttC>ttT	p.F22F	FAM174B_ENST00000555064.1_Silent_p.F22F|FAM174B_ENST00000555696.1_Silent_p.F22F|RP11-386M24.9_ENST00000607766.1_RNA|FAM174B_ENST00000327355.5_3'UTR|FAM174B_ENST00000553393.1_Intron			Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	0						integral to membrane				endometrium(2)|lung(1)	3						ACCAGGCTGGGAAACAGGTTT	0.537000													5	49					0	0	8.12818e-05	0	0
KDELC2	143888	broad.mit.edu	37	11	108352018	108352018	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:108352018G>T	ENST00000434945.2	-	4	1121	c.819C>A	c.(817-819)tcC>tcA	p.S273S	KDELC2_ENST00000532730.1_Intron|KDELC2_ENST00000375648.1_Silent_p.S273S|KDELC2_ENST00000323468.5_Silent_p.S329S			Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	329						endoplasmic reticulum lumen				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		GATTTTCTTTGGACAGCTGTA	0.438000													13	157					0.000151284	0.00236471	0.000151284	1	0
WEE1	7465	broad.mit.edu	37	11	9597454	9597454	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:9597454G>T	ENST00000450114.2	+	2	849	c.596G>T	c.(595-597)cGg>cTg	p.R199L	WEE1_ENST00000299613.6_5'UTR	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	199					blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		TCCAAAGCTCGGGGAATTGAT	0.418000													5	101					0.000157383	0.00236471	0.000157383	1	0
FBN2	2201	broad.mit.edu	37	5	127595312	127595312	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:127595312C>G	ENST00000508053.1	-	71	9548	c.8574G>C	c.(8572-8574)acG>acC	p.T2858T	FBN2_ENST00000262464.4_Silent_p.T2858T			P35556	FBN2_HUMAN	fibrillin 2	2858					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCTTCTTGGCCGTGTGCAAGT	0.507000													5	131					0	0	0.000157383	0	0
FOXK2	3607	broad.mit.edu	37	17	80541916	80541916	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:80541916G>C	ENST00000335255.5	+	6	1305	c.1131G>C	c.(1129-1131)gcG>gcC	p.A377A		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	377					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			CCAATCACGCGGGAGTGCTGT	0.597000													4	33					0	0	3.59834e-05	0	0
MDN1	23195	broad.mit.edu	37	6	90500078	90500078	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:90500078T>C	ENST00000369393.3	-	6	1013	c.898A>G	c.(898-900)Agg>Ggg	p.R300G	MDN1_ENST00000428876.1_Missense_Mutation_p.R300G			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	300					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ACATAAGACCTAAGGGCCAGC	0.488000													4	187					0	0	0.00024832	0	0
CUL2	8453	broad.mit.edu	37	10	35343419	35343419	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:35343419G>A	ENST00000374748.1	-	6	679	c.366C>T	c.(364-366)gaC>gaT	p.D122D	CUL2_ENST00000374746.1_Silent_p.D122D|CUL2_ENST00000374742.1_Silent_p.D122D|CUL2_ENST00000537177.1_Silent_p.D141D|CUL2_ENST00000374749.3_Silent_p.D122D|CUL2_ENST00000602371.1_Silent_p.D65D|CUL2_ENST00000374751.3_Silent_p.D122D			Q13617	CUL2_HUMAN	cullin 2	122					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CATACTGAAGGTCCGCTTCTG	0.328000													22	108					0	0	0.000586117	0	0
ALPK2	115701	broad.mit.edu	37	18	56204264	56204264	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:56204264G>A	ENST00000361673.3	-	5	3368	c.3155C>T	c.(3154-3156)cCt>cTt	p.P1052L	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1052							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CACTTGGGAAGGAAATTGGGA	0.493000													25	102					0	0	0.000720815	0	0
C17orf70	80233	broad.mit.edu	37	17	79517359	79517359	+	Silent	SNP	C	C	G	rs112195664		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:79517359C>G	ENST00000537152.1	-	3	1233	c.708G>C	c.(706-708)ccG>ccC	p.P236P	C17orf70_ENST00000327787.8_Silent_p.P387P	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	387					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GCAGGCCTCCCGGGCCTTCTT	0.662000													4	88					0	0	0.00024832	0	0
MIR154	406946	broad.mit.edu	37	14	101526141	101526141	+	RNA	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:101526141G>C	ENST00000385243.1	+	0	50					NR_029704.1																						TATTTGTGACGAATCATACAC	0.502000													4	149					0	0	3.59834e-05	0	0
MPDZ	8777	broad.mit.edu	37	9	13133826	13133826	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:13133826G>T	ENST00000319217.7	-	32	4708	c.4461C>A	c.(4459-4461)ccC>ccA	p.P1487P	MPDZ_ENST00000381015.4_Silent_p.P1487P|MPDZ_ENST00000538841.1_Silent_p.P346P|MPDZ_ENST00000447879.1_Silent_p.P1454P|MPDZ_ENST00000381022.2_Silent_p.P1487P|MPDZ_ENST00000546205.1_Silent_p.P1501P|MPDZ_ENST00000536827.1_Silent_p.P1454P|MPDZ_ENST00000541093.1_5'UTR|MPDZ_ENST00000541718.1_Silent_p.P1487P	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1487	PDZ 9.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GATTTACCTTGGGAAGCTCCA	0.408000													4	23					5.9392e-07	1.10503e-05	3.59834e-05	1	0
CHD9	80205	broad.mit.edu	37	16	53243605	53243605	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:53243605C>A	ENST00000566029.1	+	3	1873	c.1664C>A	c.(1663-1665)cCt>cAt	p.P555H	CHD9_ENST00000564845.1_Missense_Mutation_p.P555H|CHD9_ENST00000398510.3_Missense_Mutation_p.P555H|CHD9_ENST00000447540.1_Missense_Mutation_p.P555H			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	555					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GAAAACTTTCCTACTGCTTCA	0.393000													8	87					0.000157383	0.00236471	0.000157383	1	0
DLST	1743	broad.mit.edu	37	14	75357821	75357821	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:75357821G>C	ENST00000334220.4	+	7	454	c.393G>C	c.(391-393)ggG>ggC	p.G131G	DLST_ENST00000334212.6_Silent_p.G45G|DLST_ENST00000555190.1_3'UTR	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	131	Lipoyl-binding.				lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		TACCTGATGGGGGAAAAGTCG	0.483000													4	116					0	0	3.59834e-05	0	0
BRDT	676	broad.mit.edu	37	1	92479769	92479769	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:92479769G>C	ENST00000370389.2	+	19	3487	c.2563G>C	c.(2563-2565)Ggt>Cgt	p.G855R	BRDT_ENST00000394530.3_Missense_Mutation_p.G882R|BRDT_ENST00000399546.2_Missense_Mutation_p.G928R|BRDT_ENST00000402388.1_Missense_Mutation_p.G928R|BRDT_ENST00000362005.3_Missense_Mutation_p.G928R	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	928					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ACAGATGGTGGGTACCATTGA	0.259000													5	127					0	0	8.12818e-05	0	0
DHX57	90957	broad.mit.edu	37	2	39082228	39082228	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:39082228C>G	ENST00000295373.6	-	8	2002	c.1876G>C	c.(1876-1878)Gga>Cga	p.G626R		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	626	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ATCTGGTATCCCACGGTCAGA	0.443000													5	285					0	0	0.000157383	0	0
SLC14A1	6563	broad.mit.edu	37	18	43319224	43319224	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:43319224C>G	ENST00000321925.4	+	7	992	c.760C>G	c.(760-762)Cca>Gca	p.P254A	SLC14A1_ENST00000402943.2_Missense_Mutation_p.P149A|RP11-116O18.3_ENST00000586213.1_RNA|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000535474.1_Missense_Mutation_p.P122A|SLC14A1_ENST00000586142.1_Missense_Mutation_p.P254A|SLC14A1_ENST00000589700.1_Intron|SLC14A1_ENST00000502059.2_Missense_Mutation_p.P146A|SLC14A1_ENST00000415427.3_Missense_Mutation_p.P310A|SLC14A1_ENST00000436407.3_Missense_Mutation_p.P310A	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	254						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						ACTCTCCTCCCCACTCATGTG	0.522000													5	88					0	0	3.59834e-05	0	0
PIGC	5279	broad.mit.edu	37	1	172411585	172411585	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:172411585G>C	ENST00000367728.1	-	1	1641	c.178C>G	c.(178-180)Cag>Gag	p.Q60E	PIGC_ENST00000484368.1_Intron|PIGC_ENST00000344529.4_Missense_Mutation_p.Q60E|PIGC_ENST00000258324.1_Missense_Mutation_p.Q60E|C1orf105_ENST00000367727.4_Intron			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	60					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						CACAGCTGCTGGATCACCACA	0.493000													5	179					0	0	0.000157383	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142500586	142500586	+	Silent	SNP	G	G	C	rs35015063	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:142500586G>C	ENST00000378004.3	+	18	1927	c.1572G>C	c.(1570-1572)acG>acC	p.T524T	ARHGAP26_ENST00000274498.4_Silent_p.T524T	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	524	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTTGATGACGGTGGCAAACC	0.463000													4	154					0	0	0.000157383	0	0
HIF1AN	55662	broad.mit.edu	37	10	102306297	102306297	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:102306297C>A	ENST00000299163.5	+	6	953	c.853C>A	c.(853-855)Cta>Ata	p.L285I		NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor	285	Interaction with HIF1A.|Interaction with VHL.|JmjC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		AGAGTCATTACTAAATGGGGG	0.483000													5	157					0.000442599	0.00584094	0.000442599	1	0
PGK1	5230	broad.mit.edu	37	X	77381286	77381286	+	Splice_Site	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:77381286G>C	ENST00000373316.4	+	11	1380		c.e11-1		PGK1_ENST00000476531.1_Splice_Site|PGK1_ENST00000442431.1_Splice_Site|PGK1_ENST00000537456.1_Splice_Site	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1						gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						CTCAAAAACAGGTAAAGTCCT	0.438000													5	283					0	0	8.12818e-05	0	0
BBS10	79738	broad.mit.edu	37	12	76741374	76741374	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:76741374G>T	ENST00000393262.3	-	2	474	c.391C>A	c.(391-393)Cag>Aag	p.Q131K		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	131					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						AGGAGAGCCTGGGAAATAAAT	0.388000									Bardet-Biedl syndrome				7	113					2.0095e-06	3.63673e-05	8.12818e-05	1	0
NIN	51199	broad.mit.edu	37	14	51243741	51243741	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:51243741G>C	ENST00000245441.5	-	7	782	c.592C>G	c.(592-594)Cgt>Ggt	p.R198G	NIN_ENST00000453196.1_Missense_Mutation_p.R198G|NIN_ENST00000389868.3_Missense_Mutation_p.R198G|NIN_ENST00000382041.3_Missense_Mutation_p.R198G|NIN_ENST00000382043.4_Missense_Mutation_p.R198G|NIN_ENST00000530997.2_Missense_Mutation_p.R198G|NIN_ENST00000324330.9_Missense_Mutation_p.R198G	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	198	EF-hand 3.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TGACCATCACGGGTGATCCCC	0.478000			T	PDGFRB	MPD								5	85					0	0	8.12818e-05	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664056	22664056	+	RNA	SNP	T	T	C	rs3178309		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:22664056T>C	ENST00000426066.1	+	0	623					NR_027293.1																						ATAAAGTATATGATTTTGTGT	0.348000													6	63					0	0	0.000157383	0	0
F11	2160	broad.mit.edu	37	4	187207578	187207578	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:187207578G>T	ENST00000264692.4	+	13	1667	c.1334G>T	c.(1333-1335)cGa>cTa	p.R445L	F11_ENST00000403665.2_Missense_Mutation_p.R497L|RP11-215A19.1_ENST00000505103.1_RNA			P03951	FA11_HUMAN	coagulation factor XI	497	Peptidase S1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	GATTCTCAACGACCCATATGC	0.368000													6	252					0.000673444	0.0084606	0.000673444	1	0
POLR3B	55703	broad.mit.edu	37	12	106763072	106763072	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:106763072G>T	ENST00000228347.4	+	5	469	c.247G>T	c.(247-249)Ggg>Tgg	p.G83W	POLR3B_ENST00000539066.1_Missense_Mutation_p.G25W	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	83					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.G83W(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TATCTATGTTGGGCTTCCTGA	0.343000													14	251					1.15088e-07	2.17384e-06	0.000422831	1	0
OVOL1	5017	broad.mit.edu	37	11	65561575	65561575	+	Translation_Start_Site	SNP	G	G	A	rs139751259	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:65561575G>A	ENST00000532448.1	+	0	396				OVOL1_ENST00000335987.3_Silent_p.P58P			O14753	OVOL1_HUMAN	ovo-like zinc finger 1						transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		CTTCCTGCCCGCTGGCTTTGA	0.642000													6	90					0	0	3.59834e-05	0	0
ANKRD50	57182	broad.mit.edu	37	4	125590177	125590177	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:125590177G>C	ENST00000504087.1	-	4	5292	c.4255C>G	c.(4255-4257)Cct>Gct	p.P1419A	ANKRD50_ENST00000515641.1_Missense_Mutation_p.P1240A	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1419										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TTGAAGCTAGGGTCAGAACCT	0.383000													4	55					0	0	3.59834e-05	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159818985	159818985	+	RNA	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:159818985C>G	ENST00000497452.1	-	0	517																											TAGACTTGCCCCCTGAGAAGC	0.463000													4	143					0	0	0.00024832	0	0
WBP11	51729	broad.mit.edu	37	12	14952596	14952596	+	Silent	SNP	G	G	T	rs75889856		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:14952596G>T	ENST00000261167.2	-	4	396	c.163C>A	c.(163-165)Cga>Aga	p.R55R	WBP11_ENST00000537574.1_Silent_p.R55R	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	55					mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						TCCATGTCTCGGATTATCTGT	0.413000													8	39					2.17888e-05	0.00037262	0.000442599	1	0
CAPN3	825	broad.mit.edu	37	15	42652311	42652311	+	Splice_Site	SNP	C	C	G	rs148538711		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:42652311C>G	ENST00000397163.3	+	1	527	c.309_splice	c.e1+1	p.P103_splice	CAPN3_ENST00000349748.3_Splice_Site_p.P103_splice|CAPN3_ENST00000318023.7_Splice_Site_p.P103_splice|CAPN3_ENST00000356316.3_Intron|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Splice_Site_p.P103_splice	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	103	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		AAGAGACCTCCGGTGAGTAGC	0.562000													5	199					0	0	0.000157383	0	0
IL16	3603	broad.mit.edu	37	15	81598278	81598278	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:81598278C>A	ENST00000394660.2	+	17	3810	c.3450C>A	c.(3448-3450)gcC>gcA	p.A1150A	RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394652.2_Silent_p.A449A|IL16_ENST00000302987.4_Silent_p.A1150A	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	1150	Interaction with PPP1R12A, PPP1R12B and PPP1R12C.|PDZ 3.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						ATGGGCTGGCCTCCCAGGAAG	0.527000													8	235					0.000442599	0.00584094	0.000442599	1	0
FAT3	120114	broad.mit.edu	37	11	92085776	92085776	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:92085776C>G	ENST00000298047.6	+	1	515	c.498C>G	c.(496-498)acC>acG	p.T166T	FAT3_ENST00000541502.1_Silent_p.T166T|FAT3_ENST00000525166.1_Silent_p.T16T|FAT3_ENST00000409404.2_Silent_p.T166T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	166	Cadherin 2.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACTCTGTTACCATAGCAGAAA	0.403000										TCGA Ovarian(4;0.039)			4	218					0	0	3.59834e-05	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48601398	48601398	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:48601398G>T	ENST00000354276.3	-	6	893	c.566C>A	c.(565-567)cCa>cAa	p.P189Q	PLA2G4C_ENST00000599111.1_Missense_Mutation_p.P199Q|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.P189Q|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.P189Q	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	189	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TTGCTTACCTGGTGCTCTTGC	0.527000													7	161					0.000673444	0.0084606	0.000673444	1	0
NEDD4L	23327	broad.mit.edu	37	18	55992363	55992363	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:55992363C>G	ENST00000456986.1	+	9	886	c.286C>G	c.(286-288)Cgg>Ggg	p.R96G	NEDD4L_ENST00000382850.4_Missense_Mutation_p.R217G|NEDD4L_ENST00000256830.9_Missense_Mutation_p.R217G|NEDD4L_ENST00000456173.2_Missense_Mutation_p.R96G|NEDD4L_ENST00000431212.2_Missense_Mutation_p.R96G|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000356462.6_Missense_Mutation_p.R217G|NEDD4L_ENST00000400345.3_Missense_Mutation_p.R217G|NEDD4L_ENST00000435432.2_Missense_Mutation_p.R96G|NEDD4L_ENST00000357895.5_Missense_Mutation_p.R209G|NEDD4L_ENST00000256832.7_Missense_Mutation_p.R96G|NEDD4L_ENST00000586263.1_Missense_Mutation_p.R209G	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	217	C2.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						CCACAACAACCGGACCACTCA	0.542000													4	169					0	0	0.000602214	0	0
ACADSB	36	broad.mit.edu	37	10	124813240	124813240	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:124813240C>G	ENST00000358776.4	+	11	1272	c.1258C>G	c.(1258-1260)Cag>Gag	p.Q420E	ACADSB_ENST00000368869.4_Missense_Mutation_p.Q318E	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	420					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	TTCCAACATCCAGTTGAACAC	0.428000													4	99					0	0	3.59834e-05	0	0
PKD2L1	9033	broad.mit.edu	37	10	102048788	102048788	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:102048788G>T	ENST00000318222.3	-	15	2658	c.2276C>A	c.(2275-2277)cCg>cAg	p.P759Q	PKD2L1_ENST00000338519.3_Missense_Mutation_p.P684Q|PKD2L1_ENST00000353274.3_Intron	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	759					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GGCTGGCTGCGGGTGCTTCCA	0.512000													5	49					0.000157383	0.00236471	0.000157383	1	0
DSG3	1830	broad.mit.edu	37	18	29049090	29049090	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:29049090C>T	ENST00000257189.4	+	12	1758	c.1675C>T	c.(1675-1677)Cct>Tct	p.P559S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	559					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACAGATACCTCCTGGAGTATA	0.483000													32	116					0	0	0.00058488	0	0
KIAA0100	9703	broad.mit.edu	37	17	26962453	26962453	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:26962453G>A	ENST00000528896.2	-	16	2226	c.2152C>T	c.(2152-2154)Cgt>Tgt	p.R718C	KIAA0100_ENST00000544884.1_Missense_Mutation_p.R575C|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R575C|RP11-192H23.7_ENST00000577814.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	718						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TCAGGGGCACGGCCTTCTAGC	0.522000													10	92					0	0	0.000442599	0	0
RNFT1	51136	broad.mit.edu	37	17	58030417	58030417	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:58030417G>C	ENST00000305783.8	-	9	1284	c.1229C>G	c.(1228-1230)cCa>cGa	p.P410R	RNFT1_ENST00000442346.2_3'UTR|RP11-178C3.1_ENST00000591035.1_Intron	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1	410						integral to membrane	zinc ion binding			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			TCTGCAGAGTGGACATGTTTT	0.328000													4	126					0	0	3.59834e-05	0	0
MAT2B	27430	broad.mit.edu	37	5	162943659	162943659	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:162943659C>G	ENST00000518095.1	+	5	735	c.662C>G	c.(661-663)cCc>cGc	p.P221R	MAT2B_ENST00000518731.1_Intron|MAT2B_ENST00000321757.6_Missense_Mutation_p.P221R|MAT2B_ENST00000280969.5_Missense_Mutation_p.P210R			Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta	221					extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding			endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CAGAGGTTCCCCACACATGTC	0.483000													4	84					0	0	0.000157383	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185540973	185540973	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:185540973C>A	ENST00000382199.2	-	2	302	c.207G>T	c.(205-207)atG>atT	p.M69I	IGF2BP2_ENST00000346192.3_Missense_Mutation_p.M69I|IGF2BP2_ENST00000457616.2_Missense_Mutation_p.M69I	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	69	RRM 1.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			AATCAACTTCCATGATTTTCC	0.398000													10	538					9.31168e-06	0.000163173	0.000151284	1	0
ME1	4199	broad.mit.edu	37	6	84117585	84117585	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:84117585C>A	ENST00000369705.3	-	2	230	c.114G>T	c.(112-114)ttG>ttT	p.L38F	ME1_ENST00000543031.1_Intron|ME1_ENST00000541327.1_Intron	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	38					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	CATGAATGTTCAATTGCTGTC	0.403000													7	154					1.12685e-05	0.000195397	0.000274275	1	0
ALS2	57679	broad.mit.edu	37	2	202588162	202588162	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:202588162C>G	ENST00000264276.6	-	22	3887	c.3515G>C	c.(3514-3516)gGg>gCg	p.G1172A	ALS2_ENST00000457679.2_Missense_Mutation_p.G484A	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1172					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						ATACTTTTCCCCCCTGCACAG	0.418000													4	137					0	0	0.00024832	0	0
VWF	7450	broad.mit.edu	37	12	6090952	6090952	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:6090952C>T	ENST00000261405.5	-	42	7541	c.7287_splice	c.e42+1	p.K2429_splice		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2429	VWFC 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAGTCCTTACCTTGTCGGGAA	0.468000													9	81					0	0	6.40141e-05	0	0
MEGF8	1954	broad.mit.edu	37	19	42867352	42867352	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:42867352C>G	ENST00000334370.4	+	34	6645	c.6010C>G	c.(6010-6012)Ctg>Gtg	p.L2004V	MEGF8_ENST00000251268.6_Missense_Mutation_p.L2071V	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2071						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TACCTCCTGCCTGGACTCTAA	0.637000													3	18					0	0	3.59834e-05	0	0
SCUBE1	80274	broad.mit.edu	37	22	43658763	43658763	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:43658763G>T	ENST00000360835.3	-	5	699	c.573C>A	c.(571-573)ccC>ccA	p.P191P	SCUBE1_ENST00000290460.7_Silent_p.P191P	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	191	EGF-like 4 (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GGTCAAAGCCGGGCCTGCAGT	0.577000													5	72					0.000442599	0.00584094	0.000442599	1	0
BZW1	9689	broad.mit.edu	37	2	201677930	201677930	+	Splice_Site	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:201677930G>C	ENST00000409600.1	+	2	445		c.e2-1		BZW1_ENST00000452790.2_Splice_Site|BZW1_ENST00000409226.1_Splice_Site	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						TCCTTTCCTAGGGTGTCTTTT	0.323000													4	92					0	0	0.00024832	0	0
NFYC	4802	broad.mit.edu	37	1	41204606	41204606	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:41204606C>G	ENST00000372652.1	+	2	359	c.91C>G	c.(91-93)Cgg>Ggg	p.R31G	NFYC_ENST00000456393.2_Missense_Mutation_p.R31G|NFYC_ENST00000447388.3_Missense_Mutation_p.R31G|NFYC_ENST00000425457.2_Missense_Mutation_p.R31G|NFYC_ENST00000372653.1_Missense_Mutation_p.R31G|NFYC_ENST00000372654.1_Missense_Mutation_p.R31G|NFYC_ENST00000427410.2_Missense_Mutation_p.R31G|NFYC_ENST00000440226.3_Missense_Mutation_p.R31G|NFYC_ENST00000372651.1_Missense_Mutation_p.R31G|NFYC_ENST00000308733.5_Missense_Mutation_p.R31G			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	31					protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			GGAAGAAATCCGGAATTTAAC	0.423000													4	61					0	0	0.00024832	0	0
SLC5A7	60482	broad.mit.edu	37	2	108625107	108625107	+	Missense_Mutation	SNP	G	G	C	rs147656110		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:108625107G>C	ENST00000264047.2	+	8	1358	c.1082G>C	c.(1081-1083)cGg>cCg	p.R361P	SLC5A7_ENST00000409059.1_Missense_Mutation_p.R361P|SLC5A7_ENST00000540517.1_Missense_Mutation_p.R256P	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	361					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	ATGTTTGCACGGAACATCTAC	0.403000													3	50					0	0	3.59834e-05	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33408641	33408641	+	Silent	SNP	G	G	T	rs149727287		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:33408641G>T	ENST00000418600.2	+	11	1913	c.1812G>T	c.(1810-1812)tcG>tcT	p.S604S	SYNGAP1_ENST00000428982.2_Silent_p.S545S|SYNGAP1_ENST00000293748.5_Silent_p.S604S|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	604	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CGATTATGTCGCCCAGTCTCT	0.597000													4	46					3.59834e-05	0.000600898	3.59834e-05	1	0
TJP1	7082	broad.mit.edu	37	15	30092869	30092869	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:30092869G>T	ENST00000346128.6	-	2	538	c.64C>A	c.(64-66)Cat>Aat	p.H22N	TJP1_ENST00000495972.2_Missense_Mutation_p.H22N|TJP1_ENST00000545208.2_Missense_Mutation_p.H22N|TJP1_ENST00000356107.6_Missense_Mutation_p.H22N|TJP1_ENST00000400011.2_Missense_Mutation_p.H26N	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	22					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GTCACTGTATGTTGTTCCCAT	0.378000													6	178					0.000274275	0.0038898	0.000274275	1	0
TMEM63A	9725	broad.mit.edu	37	1	226062007	226062007	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:226062007G>C	ENST00000366835.3	-	4	517	c.247C>G	c.(247-249)Ctg>Gtg	p.L83V		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	83						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					TCTGACACCAGGGCAATGCGG	0.428000													4	118					0	0	0.00024832	0	0
ABI3BP	25890	broad.mit.edu	37	3	100570746	100570746	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:100570746C>A	ENST00000471714.1	-	15	1454	c.1345G>T	c.(1345-1347)Gag>Tag	p.E449*	ABI3BP_ENST00000284322.5_Nonsense_Mutation_p.E400*|ABI3BP_ENST00000495063.1_Nonsense_Mutation_p.E449*			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	412	Pro-rich.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						ATCTCAGGCTCATCTGATGTT	0.348000													7	30					1.6384e-10	3.20638e-09	8.12818e-05	1	0
PLEKHF2	79666	broad.mit.edu	37	8	96166567	96166567	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:96166567G>C	ENST00000315367.3	+	2	536	c.295G>C	c.(295-297)Gga>Cga	p.G99R	PLEKHF2_ENST00000519516.1_Missense_Mutation_p.G99R	NM_024613.3	NP_078889.1	Q9H8W4	PKHF2_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 2	99	PH.					transport vesicle	metal ion binding|protein binding			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					CTTAAGGAATGGATGGCTAAT	0.343000													6	338					0	0	3.59834e-05	0	0
CAPN6	827	broad.mit.edu	37	X	110491199	110491199	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:110491199G>T	ENST00000324068.1	-	11	1673	c.1506C>A	c.(1504-1506)ccC>ccA	p.P502P	CAPN6_ENST00000541758.1_Silent_p.P247P	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	502					microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						AGGACATTTTGGGCATGTCCA	0.423000													9	274					5.50884e-06	9.71621e-05	0.00010058	1	0
NHLRC3	387921	broad.mit.edu	37	13	39612790	39612790	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:39612790G>T	ENST00000379600.3	+	1	336	c.14G>T	c.(13-15)tGg>tTg	p.W5L	NHLRC3_ENST00000379599.2_Missense_Mutation_p.W5L|NHLRC3_ENST00000470258.1_Intron	NM_001012754.2	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	5						extracellular region				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		GCGAGATTCTGGGTCTGCGTA	0.572000													7	152					0.000442599	0.00584094	0.000442599	1	0
MBD2	8932	broad.mit.edu	37	18	51731439	51731439	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:51731439C>A	ENST00000256429.3	-	2	859	c.631G>T	c.(631-633)Gga>Tga	p.G211*	MBD2_ENST00000583046.1_Nonsense_Mutation_p.G211*|MBD2_ENST00000398398.2_Nonsense_Mutation_p.G211*	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	211	MBD.				transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	ATCATCTTTCCAGTTCTGAAG	0.388000													7	133					2.0095e-06	3.63673e-05	8.12818e-05	1	0
TMC5	79838	broad.mit.edu	37	16	19460949	19460949	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:19460949C>A	ENST00000396229.2	+	5	1793	c.1044C>A	c.(1042-1044)ccC>ccA	p.P348P	TMC5_ENST00000542583.2_Silent_p.P348P|TMC5_ENST00000541464.1_Silent_p.P348P|TMC5_ENST00000381414.4_Silent_p.P348P	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	348						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACAAGTCACCCCAAGGTAAGt	0.502000													7	113					2.0095e-06	3.63673e-05	8.12818e-05	1	0
SUPV3L1	6832	broad.mit.edu	37	10	70958170	70958170	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:70958170C>A	ENST00000359655.4	+	9	1126	c.1066C>A	c.(1066-1068)Cat>Aat	p.H356N		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	356	Helicase C-terminal.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGTGCTGGACCATGCACTAGA	0.428000													7	186					0.000442599	0.00584094	0.000442599	1	0
SLC22A25	387601	broad.mit.edu	37	11	62948217	62948217	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:62948217C>T	ENST00000403374.2	-	7	790	c.487G>A	c.(487-489)Gag>Aag	p.E163K	SLC22A10_ENST00000525620.1_Intron|SLC22A25_ENST00000306494.6_Missense_Mutation_p.E329K|SLC22A10_ENST00000535888.1_Intron			Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	329					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						TGTGCTGCCTCCAGTTCTTGC	0.403000													8	54					0	0	0.000274275	0	0
UGT2B4	7363	broad.mit.edu	37	4	70346553	70346553	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:70346553G>A	ENST00000305107.6	-	6	1432	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Silent_p.F326F|UGT2B4_ENST00000512583.1_3'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	462					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.F462L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						ATTCAATCCAGAAGACTGCTC	0.443000													7	131					0	0	0.000274275	0	0
CRB1	23418	broad.mit.edu	37	1	197404013	197404013	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:197404013G>A	ENST00000367397.1	+	5	2021	c.1163G>A	c.(1162-1164)aGa>aAa	p.R388K	CRB1_ENST00000544212.1_Missense_Mutation_p.R488K|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.R895K|CRB1_ENST00000367400.3_Missense_Mutation_p.R1007K|CRB1_ENST00000535699.1_Missense_Mutation_p.R983K			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1007	EGF-like 9.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CAAGATTCCAGATTATTCTTT	0.368000													8	94					0	0	0.000157383	0	0
CCDC82	79780	broad.mit.edu	37	11	96117676	96117676	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:96117676G>C	ENST00000278520.5	-	3	664	c.236C>G	c.(235-237)cCa>cGa	p.P79R	CCDC82_ENST00000542662.1_Missense_Mutation_p.P79R|CCDC82_ENST00000423339.2_Missense_Mutation_p.P79R			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	79							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TTCACTTCCTGGTGTTTTATT	0.348000													7	128					0	0	8.12818e-05	0	0
TIMM9	26520	broad.mit.edu	37	14	58878647	58878647	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:58878647G>T	ENST00000395159.2	-	4	542	c.17C>A	c.(16-18)cCa>cAa	p.P6Q	TIMM9_ENST00000216463.4_Intron|RP11-517O13.1_ENST00000556734.1_RNA|TIMM9_ENST00000556007.2_Missense_Mutation_p.P6Q|TIMM9_ENST00000555404.1_Missense_Mutation_p.P6Q|TIMM9_ENST00000555593.1_Missense_Mutation_p.P6Q|TIMM9_ENST00000555061.1_Missense_Mutation_p.P6Q	NM_012460.2	NP_036592.1	Q9Y5J7	TIM9_HUMAN	translocase of inner mitochondrial membrane 9 homolog (yeast)	6					protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport	mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex	zinc ion binding			kidney(2)|skin(1)	3						ATCAGATTCTGGTATTTGTGC	0.328000													8	139					0.000442599	0.00584094	0.000442599	1	0
PRG4	10216	broad.mit.edu	37	1	186276564	186276564	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:186276564C>T	ENST00000445192.2	+	7	1758	c.1713C>T	c.(1711-1713)acC>acT	p.T571T	PRG4_ENST00000367483.4_Silent_p.T530T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.T528T|PRG4_ENST00000367485.4_Silent_p.T478T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	571	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T571T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTGCACCCACCACCCCCAAGA	0.642000													9	117					0	0	0.00074312	0	0
CIRH1A	84916	broad.mit.edu	37	16	69188305	69188305	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:69188305G>C	ENST00000563094.1	+	10	1143	c.1109G>C	c.(1108-1110)gGg>gCg	p.G370A	CIRH1A_ENST00000352319.4_Intron|CIRH1A_ENST00000314423.7_Missense_Mutation_p.G370A			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	370						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		GGCAAGAATGGGGATACTCTT	0.348000													4	76					0	0	0.000602214	0	0
DST	667	broad.mit.edu	37	6	56473194	56473194	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:56473194C>G	ENST00000370754.5	-	39	6132	c.6133G>C	c.(6133-6135)Ggt>Cgt	p.G2045R	DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.G1541R|DST_ENST00000370769.4_Missense_Mutation_p.G1867R|DST_ENST00000361203.3_Missense_Mutation_p.G1867R|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Missense_Mutation_p.G1867R			Q03001	DYST_HUMAN	dystonin	1867					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AATATTTCACCAGAATGGGGC	0.423000													4	87					0	0	0.00024832	0	0
KIF21B	23046	broad.mit.edu	37	1	200969622	200969622	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:200969622C>A	ENST00000332129.2	-	11	1897	c.1581G>T	c.(1579-1581)ggG>ggT	p.G527G	KIF21B_ENST00000422435.2_Silent_p.G527G|KIF21B_ENST00000360529.5_Silent_p.G527G|KIF21B_ENST00000461742.2_Silent_p.G527G	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	527					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CAGGGCTGCCCCCGAAGGCCG	0.672000													7	86					8.12818e-05	0.00129777	8.12818e-05	1	0
LRRFIP1	9208	broad.mit.edu	37	2	238680784	238680784	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:238680784C>A	ENST00000308482.9	+	21	1639	c.1570C>A	c.(1570-1572)Cga>Aga	p.R524R	LRRFIP1_ENST00000468950.1_3'UTR	NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	573	DNA-binding.				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AGACAATCTTCGATCTGAAGA	0.393000													5	98					8.12818e-05	0.00129777	8.12818e-05	1	0
DYRK1A	1859	broad.mit.edu	37	21	38884593	38884593	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:38884593C>A	ENST00000339659.3	+	11	3494	c.2024C>A	c.(2023-2025)cCa>cAa	p.P675Q	DYRK1A_ENST00000398960.2_Missense_Mutation_p.P684Q|DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000455387.2_Missense_Mutation_p.P456Q	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	684					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAGAATCGCCCAGTGGCTGCT	0.507000													6	120					0.000442599	0.00584094	0.000442599	1	0
FAM135B	51059	broad.mit.edu	37	8	139380206	139380206	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:139380206C>A	ENST00000395297.1	-	2	191	c.21G>T	c.(19-21)acG>acT	p.T7T		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	7										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AAAACTCAACCGTTCCTTGTA	0.378000										HNSCC(54;0.14)			7	141					0.000442599	0.00584094	0.000442599	1	0
ALDH7A1	501	broad.mit.edu	37	5	125896775	125896775	+	Splice_Site	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:125896775C>A	ENST00000409134.3	-	10	1132	c.913_splice	c.e10+1	p.A305_splice	ALDH7A1_ENST00000447989.2_Splice_Site_p.A332_splice|ALDH7A1_ENST00000553117.1_Splice_Site_p.A305_splice	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	305					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity	p.A277S(1)|p.A332S(1)		endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	GCAGCCTTACCAATAATGGCA	0.358000													8	185					1.58986e-06	2.89309e-05	0.000673444	1	0
DNTTIP2	30836	broad.mit.edu	37	1	94342882	94342882	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:94342882G>C	ENST00000436063.2	-	2	666	c.609C>G	c.(607-609)acC>acG	p.T203T	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		GCATACTCCTGGTTCTTCTAG	0.403000													8	338					0	0	0.000151284	0	0
SRRM1	10250	broad.mit.edu	37	1	24978981	24978981	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:24978981C>A	ENST00000323848.9	+	7	1097	c.782C>A	c.(781-783)cCg>cAg	p.P261Q	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.P261Q|SRRM1_ENST00000374389.4_Missense_Mutation_p.P261Q|SRRM1_ENST00000537199.1_Missense_Mutation_p.P130Q	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	261	Arg-rich.|Pro-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		GAACCTTCTCCGGAAAAAAAT	0.443000													5	100					1.23904e-05	0.000214228	0.000602214	1	0
ST14	6768	broad.mit.edu	37	11	130068214	130068214	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:130068214G>C	ENST00000278742.5	+	13	1889	c.1471G>C	c.(1471-1473)Ggc>Cgc	p.G491R		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	491	LDL-receptor class A 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TTGCGACGCCGGCCACCAGTT	0.627000													4	121					0	0	3.59834e-05	0	0
PSMC6	5706	broad.mit.edu	37	14	53184854	53184854	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:53184854C>T	ENST00000445930.2	+	8	633	c.627C>T	c.(625-627)ttC>ttT	p.F209F	PSMC6_ENST00000606149.1_Silent_p.F195F			P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	195					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					ACTGCAATTTCTTAAAGGTAA	0.328000													21	150					0	0	0.00047179	0	0
DUS1L	64118	broad.mit.edu	37	17	80022817	80022817	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:80022817C>G	ENST00000354321.7	-	1	604	c.119G>C	c.(118-120)gGg>gCg	p.G40A	DUS1L_ENST00000306796.5_Missense_Mutation_p.G40A			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	40					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GAGCTGTGCCCCGTGGCGCCG	0.682000													4	44					0	0	0.000602214	0	0
GNG4	2786	broad.mit.edu	37	1	235747058	235747058	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:235747058G>A	ENST00000391854.2	-	3	534	c.81C>T	c.(79-81)gcC>gcT	p.A27A	GNG4_ENST00000366598.4_Silent_p.A27A|GNG4_ENST00000450593.1_Silent_p.A27A|GNG4_ENST00000484517.1_5'UTR|GNG4_ENST00000366597.1_Silent_p.A27A	NM_001098722.1|NM_004485.3	NP_001092192.1|NP_004476.1	P50150	GBG4_HUMAN	guanine nucleotide binding protein (G protein), gamma 4	27					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|negative regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			NS(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23)	OV - Ovarian serous cystadenocarcinoma(106;0.000882)			TGTCCATACAGGCTTCCATCT	0.517000													12	113					0	0	0.00010058	0	0
SETD8	387893	broad.mit.edu	37	12	123875268	123875268	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:123875268C>A	ENST00000402868.3	+	3	650	c.224C>A	c.(223-225)tCa>tAa	p.S75*	SETD8_ENST00000478781.2_3'UTR|SETD8_ENST00000330479.4_Nonsense_Mutation_p.S75*			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	116					cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		GAAGAGAACTCAGTTACACAT	0.463000													6	77					0.000442599	0.00584094	0.000442599	1	0
SUGP1	57794	broad.mit.edu	37	19	19414542	19414542	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:19414542G>C	ENST00000247001.5	-	5	1000	c.653C>G	c.(652-654)cCa>cGa	p.P218R	SUGP1_ENST00000585763.1_Intron	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	218					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						CGCAAATGCTGGGTTATCCTT	0.552000													5	200					0	0	8.12818e-05	0	0
TRO	7216	broad.mit.edu	37	X	54957746	54957746	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:54957746G>A	ENST00000319167.8	+	13	2208	c.2096G>A	c.(2095-2097)gGc>gAc	p.G699D	TRO_ENST00000375022.4_Missense_Mutation_p.G699D|TRO_ENST00000420798.2_3'UTR|TRO_ENST00000399736.1_Missense_Mutation_p.G302D|TRO_ENST00000173898.7_3'UTR|TRO_ENST00000375041.2_3'UTR	NM_016157.2	NP_057241.2	Q12816	TROP_HUMAN	trophinin	0					embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GGCAGTTATGGCCAATCAGCT	0.423000													16	171					0	0	9.7654e-05	0	0
OGDH	4967	broad.mit.edu	37	7	44739789	44739789	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:44739789G>T	ENST00000222673.5	+	19	2522	c.2480G>T	c.(2479-2481)tGg>tTg	p.W827L	OGDH_ENST00000543843.1_Missense_Mutation_p.W778L|OGDH_ENST00000449767.1_Missense_Mutation_p.W823L|OGDH_ENST00000447398.1_Missense_Mutation_p.W838L|OGDH_ENST00000444676.1_Missense_Mutation_p.W842L|OGDH_ENST00000439616.2_Missense_Mutation_p.W677L	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	827					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GACTGCAATTGGGTTGTTGTC	0.547000													7	136					0.000274275	0.0038898	0.000274275	1	0
PPFIA1	8500	broad.mit.edu	37	11	70171012	70171012	+	Silent	SNP	C	C	G	rs144282210	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:70171012C>G	ENST00000253925.7	+	4	641	c.426C>G	c.(424-426)acC>acG	p.T142T	PPFIA1_ENST00000389547.3_Silent_p.T142T|AP000487.6_ENST00000528607.1_RNA|CTA-797E19.2_ENST00000526017.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	142					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	p.T142T(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TTAGGATGACCGTGGTGAAGA	0.473000													4	162					0	0	0.00024832	0	0
KCNQ3	3786	broad.mit.edu	37	8	133192412	133192412	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:133192412G>C	ENST00000388996.4	-	4	1189	c.769C>G	c.(769-771)Cac>Gac	p.H257D	KCNQ3_ENST00000521134.1_Missense_Mutation_p.H137D|KCNQ3_ENST00000519445.1_Missense_Mutation_p.H257D	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	257					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ACTTTGCTGTGGGCACAGATG	0.597000													4	49					0	0	3.59834e-05	0	0
SLC24A3	57419	broad.mit.edu	37	20	19677525	19677525	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:19677525T>A	ENST00000328041.6	+	14	1773	c.1576T>A	c.(1576-1578)Tgc>Agc	p.C526S		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	526						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CGTGCCTGACTGCATGGCCAG	0.592000													4	37					0	0	0.000157383	0	0
UPF2	26019	broad.mit.edu	37	10	12009396	12009396	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:12009396C>A	ENST00000356352.2	-	9	2484	c.2011G>T	c.(2011-2013)Gga>Tga	p.G671*	UPF2_ENST00000397053.2_Nonsense_Mutation_p.G671*|UPF2_ENST00000357604.5_Nonsense_Mutation_p.G671*			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	671	MIF4G 2.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GTTAGTTCTCCTATAAAACGA	0.279000													21	548					6.36457e-07	1.18344e-05	0.000586117	1	0
EFTUD2	9343	broad.mit.edu	37	17	42953387	42953387	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:42953387G>C	ENST00000426333.2	-	10	1081	c.784C>G	c.(784-786)Cgg>Ggg	p.R262G	EFTUD2_ENST00000402521.3_Missense_Mutation_p.R227G|EFTUD2_ENST00000592576.1_Missense_Mutation_p.R252G|EFTUD2_ENST00000591382.1_Missense_Mutation_p.R262G	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	262						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				AGGATCAGCCGGTCAATCTTG	0.507000													4	155					0	0	3.59834e-05	0	0
FILIP1	27145	broad.mit.edu	37	6	76023677	76023677	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:76023677G>C	ENST00000393004.2	-	5	2092	c.1871C>G	c.(1870-1872)cCg>cGg	p.P624R	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.P624R|FILIP1_ENST00000370020.1_Missense_Mutation_p.P525R			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	624								p.P624Q(1)|p.P624H(1)		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						ATTATCTTCCGGGCAGGTGAG	0.413000													6	224					0	0	3.59834e-05	0	0
HEATR3	55027	broad.mit.edu	37	16	50136244	50136244	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:50136244C>A	ENST00000299192.7	+	14	2009	c.1818C>A	c.(1816-1818)gcC>gcA	p.A606A	RP11-429P3.5_ENST00000566770.1_RNA|HEATR3_ENST00000285767.4_Silent_p.A520A	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	606							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CTTTGGATGCCCTCTTTGATG	0.398000													8	168					0.000442599	0.00584094	0.000442599	1	0
HPX	3263	broad.mit.edu	37	11	6458755	6458755	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:6458755G>A	ENST00000265983.3	-	6	718	c.618C>T	c.(616-618)ttC>ttT	p.F206F		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	206	Hemopexin-like 3.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		CGAAGCGCAGGAATTGGTTAC	0.612000													7	48					0	0	8.12818e-05	0	0
MMP8	4317	broad.mit.edu	37	11	102593239	102593239	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:102593239G>T	ENST00000236826.3	-	2	366	c.268C>A	c.(268-270)Cgc>Agc	p.R90S		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	90					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		ACTCCACAGCGAGGCTTTTTC	0.453000													5	83					0.000157383	0.00236471	0.000157383	1	0
BRWD1	54014	broad.mit.edu	37	21	40597051	40597051	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:40597051G>T	ENST00000342449.3	-	28	3359	c.3281C>A	c.(3280-3282)cCa>cAa	p.P1094Q	BRWD1_ENST00000333229.2_Missense_Mutation_p.P1094Q|BRWD1_ENST00000380800.3_Missense_Mutation_p.P1094Q	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1094					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AGGATACTGTGGTTGATATGG	0.393000													7	142					0.000442599	0.00584094	0.000442599	1	0
ACE	1636	broad.mit.edu	37	17	61561238	61561238	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:61561238C>G	ENST00000290866.4	+	11	1639	c.1615C>G	c.(1615-1617)Cag>Gag	p.Q539E	ACE_ENST00000428043.1_Missense_Mutation_p.Q539E	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	539	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCTGCAGTTCCAGTTCCATGA	0.592000													4	90					0	0	0.00024832	0	0
SPTB	6710	broad.mit.edu	37	14	65239540	65239540	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:65239540A>C	ENST00000389722.3	-	25	5364	c.5311T>G	c.(5311-5313)Tgg>Ggg	p.W1771G	SPTB_ENST00000389720.3_Missense_Mutation_p.W1771G|SPTB_ENST00000389721.5_Missense_Mutation_p.W1771G|SPTB_ENST00000542895.1_Missense_Mutation_p.W1771G|SPTB_ENST00000556626.1_Missense_Mutation_p.W1771G	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1771					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCGTCCTTCCACTCGGCGATG	0.637000													3	53					0	0	6.4e-05	0	0
AKAP13	11214	broad.mit.edu	37	15	86278820	86278820	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:86278820C>A	ENST00000394518.2	+	32	7566	c.7471C>A	c.(7471-7473)Caa>Aaa	p.Q2491K	AKAP13_ENST00000394510.2_Missense_Mutation_p.Q736K|AKAP13_ENST00000361243.2_Missense_Mutation_p.Q2495K|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2491	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGATGATGGCCAAGATCTTAG	0.368000													7	195					0.000673444	0.0084606	0.000673444	1	0
MUC16	94025	broad.mit.edu	37	19	9050244	9050244	+	Splice_Site	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:9050244C>G	ENST00000397910.4	-	5	31591		c.e5-1			NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated						cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGTGTAGTCCTGTAAATTGG	0.463000													4	106					0	0	0.00024832	0	0
BAP1	8314	broad.mit.edu	37	3	52438469	52438469	+	Splice_Site	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:52438469C>A	ENST00000460680.1	-	12	1721	c.1250_splice	c.e12+1	p.R417_splice	BAP1_ENST00000296288.5_Splice_Site_p.R399_splice	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	417					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CTGGGCTGACCTAAGGGCAGA	0.527000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							5	45					1.23904e-05	0.000214228	0.000602214	1	0
DYNC1H1	1778	broad.mit.edu	37	14	102461081	102461081	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:102461081C>A	ENST00000360184.4	+	13	3392	c.3228C>A	c.(3226-3228)ctC>ctA	p.L1076L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1076	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GAGAAGATCTCAACAAATGGC	0.393000													9	91					0.000673444	0.0084606	0.000673444	1	0
FPR3	2359	broad.mit.edu	37	19	52327550	52327550	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:52327550G>C	ENST00000339223.4	+	2	728	c.549G>C	c.(547-549)tgG>tgC	p.W183C	FPR3_ENST00000595991.1_Missense_Mutation_p.W183C	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	183					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TTGCATTCTGGGGTGACACTG	0.428000													4	109					0	0	3.59834e-05	0	0
LRRN1	57633	broad.mit.edu	37	3	3886932	3886932	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:3886932G>T	ENST00000319331.3	+	2	1368	c.607G>T	c.(607-609)Gtg>Ttg	p.V203L	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	203						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AGAAAACCCTGTGATTGGAAT	0.403000													6	134					0.000157383	0.00236471	0.000157383	1	0
TMEM50B	757	broad.mit.edu	37	21	34839413	34839413	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:34839413C>G	ENST00000542230.2	-	3	330	c.116G>C	c.(115-117)tGg>tCg	p.W39S		NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN	transmembrane protein 50B	39						endoplasmic reticulum|integral to membrane|plasma membrane				breast(1)|kidney(1)|ovary(1)|skin(1)	4						AATCATTATCCACCAGCCTGT	0.393000													4	87					0	0	0.00024832	0	0
SCFD2	152579	broad.mit.edu	37	4	54140046	54140046	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:54140046G>C	ENST00000401642.3	-	4	1391	c.1258C>G	c.(1258-1260)Cca>Gca	p.P420A	SCFD2_ENST00000388940.4_Missense_Mutation_p.P420A	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	420					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GCAGTCTGTGGGTGTTTCAAC	0.448000													4	86					0	0	3.59834e-05	0	0
SI	6476	broad.mit.edu	37	3	164786528	164786528	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:164786528G>T	ENST00000264382.3	-	5	527	c.465C>A	c.(463-465)ccC>ccA	p.P155P		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	155	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GGAAACGATTGGGTGTCTGAT	0.408000										HNSCC(35;0.089)			7	127					0.000442599	0.00584094	0.000442599	1	0
PTPLB	201562	broad.mit.edu	37	3	123247249	123247249	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:123247249G>T	ENST00000383657.5	-	4	522	c.365C>A	c.(364-366)aCa>aAa	p.T122K		NM_198402.3	NP_940684.1	Q6Y1H2	HACD2_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member b	122					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein binding			kidney(2)	2				GBM - Glioblastoma multiforme(114;0.1)		GACGCTATGTGTTACTGCCCA	0.343000													6	120					2.17888e-05	0.00037262	0.000442599	1	0
KCNMB4	27345	broad.mit.edu	37	12	70794062	70794062	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:70794062G>T	ENST00000258111.4	+	2	869	c.410G>T	c.(409-411)tGg>tTg	p.W137L		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	137					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			CAACAGTACTGGAAAGATGAG	0.348000													8	145					2.17888e-05	0.00037262	0.000442599	1	0
FCHSD2	9873	broad.mit.edu	37	11	72560920	72560920	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:72560920G>T	ENST00000409314.1	-	15	1563	c.1395C>A	c.(1393-1395)acC>acA	p.T465T	FCHSD2_ENST00000409853.1_Silent_p.T385T|FCHSD2_ENST00000311172.7_Silent_p.T385T|FCHSD2_ENST00000409418.4_Silent_p.T441T|FCHSD2_ENST00000458644.2_Silent_p.T305T			O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	441							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			CTTCTCTTTCGGTATCTGCAT	0.388000													13	293					3.45872e-05	0.000585782	0.000422831	1	0
KRT1	3848	broad.mit.edu	37	12	53072376	53072376	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:53072376C>A	ENST00000252244.3	-	2	814	c.756G>T	c.(754-756)ttG>ttT	p.L252F		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	252	Coil 1B.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GTTCCGAATCCAACCGAGATT	0.453000													7	164					3.86212e-05	0.000638159	0.000673444	1	0
MCM8	84515	broad.mit.edu	37	20	5948574	5948574	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:5948574G>T	ENST00000378896.3	+	10	1503	c.1126G>T	c.(1126-1128)Ggg>Tgg	p.G376W	MCM8_ENST00000265187.4_Missense_Mutation_p.G360W|MCM8_ENST00000378883.1_Missense_Mutation_p.G376W|MCM8_ENST00000378886.2_Missense_Mutation_p.G376W	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	376					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TTCTGAGGATGGGTGTAAGCA	0.353000													8	148					5.18039e-06	9.2077e-05	0.000157383	1	0
LYST	1130	broad.mit.edu	37	1	235972806	235972806	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:235972806G>C	ENST00000389794.3	-	5	1486	c.1312C>G	c.(1312-1314)Cag>Gag	p.Q438E	LYST_ENST00000536965.1_Missense_Mutation_p.Q438E|LYST_ENST00000389793.2_Missense_Mutation_p.Q438E			Q99698	LYST_HUMAN	lysosomal trafficking regulator	438					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CCATGATGCTGAATGAATTCT	0.403000													4	132					0	0	3.59834e-05	0	0
MGAT5B	146664	broad.mit.edu	37	17	74928824	74928824	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:74928824C>A	ENST00000569840.2	+	11	1963	c.1389C>A	c.(1387-1389)gcC>gcA	p.A463A	MGAT5B_ENST00000301618.4_Silent_p.A463A|MGAT5B_ENST00000428789.2_Silent_p.A474A	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	463						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCAACATGGCCGTGGTGTACG	0.667000													5	65					0.000157383	0.00236471	0.000157383	1	0
ITPRIP	85450	broad.mit.edu	37	10	106074346	106074346	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:106074346C>G	ENST00000278071.2	-	3	1916	c.1464G>C	c.(1462-1464)atG>atC	p.M488I	ITPRIP_ENST00000358187.2_Missense_Mutation_p.M488I|ITPRIP_ENST00000337478.1_Missense_Mutation_p.M488I	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	488						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CAGGGAGTCCCATGGCCTCAG	0.597000													4	85					0	0	0.00024832	0	0
KIF21B	23046	broad.mit.edu	37	1	200943844	200943844	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:200943844G>T	ENST00000332129.2	-	33	5089	c.4773C>A	c.(4771-4773)tcC>tcA	p.S1591S	KIF21B_ENST00000422435.2_Silent_p.S1604S|KIF21B_ENST00000360529.5_Silent_p.S1591S|KIF21B_ENST00000461742.2_Silent_p.S1604S	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1604					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GCACCCACCTGGAGGCTGTGA	0.602000													7	98					0.000274275	0.0038898	0.000274275	1	0
PYGO1	26108	broad.mit.edu	37	15	55838457	55838457	+	Missense_Mutation	SNP	G	G	A	rs151028742		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:55838457G>A	ENST00000302000.6	-	3	1118	c.1024C>T	c.(1024-1026)Cct>Tct	p.P342S	PYGO1_ENST00000563719.1_Missense_Mutation_p.P342S	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	342					Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		ATTCCACAAGGATACACTGGG	0.463000													16	163					0	0	0.000175454	0	0
IFNAR2	3455	broad.mit.edu	37	21	34635141	34635141	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:34635141C>G	ENST00000342136.4	+	9	1210	c.884C>G	c.(883-885)cCg>cGg	p.P295R	AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000413881.1_3'UTR|IFNAR2_ENST00000342101.3_3'UTR|IFNAR2_ENST00000382241.3_Missense_Mutation_p.P295R|IFNAR2_ENST00000404220.3_3'UTR			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	295					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	AACCTGCCACCGTTGGAAGCC	0.378000													5	194					0	0	3.59834e-05	0	0
TCERG1	10915	broad.mit.edu	37	5	145843354	145843354	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:145843354C>T	ENST00000296702.5	+	5	1171	c.1133C>T	c.(1132-1134)cCa>cTa	p.P378L	TCERG1_ENST00000394421.2_Missense_Mutation_p.P378L	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	378	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTCCACTTCCAGGTAAACCA	0.428000													6	191					0	0	0.000157383	0	0
RALGAPB	57148	broad.mit.edu	37	20	37159863	37159863	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:37159863C>G	ENST00000262879.6	+	14	2388	c.2104C>G	c.(2104-2106)Cag>Gag	p.Q702E	RALGAPB_ENST00000397040.1_Missense_Mutation_p.Q702E|RALGAPB_ENST00000397042.3_Missense_Mutation_p.Q702E|RALGAPB_ENST00000397038.1_Missense_Mutation_p.Q480E			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	702					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CATTGGTTGCCAGATGGAGAT	0.318000													4	131					0	0	0.00024832	0	0
ETNK1	55500	broad.mit.edu	37	12	22814072	22814072	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:22814072G>C	ENST00000266517.4	+	4	989	c.900G>C	c.(898-900)ctG>ctC	p.L300L		NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	300					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTTCCAACCTGGGCTCACCTG	0.373000													7	99					0	0	8.12818e-05	0	0
WDFY3	23001	broad.mit.edu	37	4	85715845	85715845	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:85715845C>G	ENST00000322366.6	-	21	3721	c.3314G>C	c.(3313-3315)tGg>tCg	p.W1105S	WDFY3_ENST00000295888.4_Missense_Mutation_p.W1105S			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1105						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AATACAAAACCAGCTAGAGTA	0.363000													4	67					0	0	3.59834e-05	0	0
KIF26B	55083	broad.mit.edu	37	1	245583023	245583023	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:245583023C>G	ENST00000407071.2	+	4	1582	c.1142C>G	c.(1141-1143)tCg>tGg	p.S381W		NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	381					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ACAGGCACATCGGTGGCCGCC	0.597000													4	99					0	0	0.000157383	0	0
GABRR1	2569	broad.mit.edu	37	6	89891688	89891688	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:89891688C>A	ENST00000435811.1	-	7	1288	c.834G>T	c.(832-834)atG>atT	p.M278I	GABRR1_ENST00000369451.3_Missense_Mutation_p.M208I|GABRR1_ENST00000454853.2_Missense_Mutation_p.M295I	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	295					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	ACAGCATGACCATCAGGGTAG	0.522000													6	101					0.000157383	0.00236471	0.000157383	1	0
MMP3	4314	broad.mit.edu	37	11	102710972	102710972	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:102710972C>A	ENST00000299855.5	-	6	1058	c.802G>T	c.(802-804)Gac>Tac	p.D268Y		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	268					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	TCAGGGGAGTCAGGGGGAGGT	0.507000													5	36					8.12818e-05	0.00129777	8.12818e-05	1	0
PTAR1	375743	broad.mit.edu	37	9	72349110	72349110	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:72349110G>C	ENST00000377200.5	-	2	149	c.147C>G	c.(145-147)ctC>ctG	p.L49L	PTAR1_ENST00000340434.4_Silent_p.L128L			Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	128					protein prenylation		protein prenyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						TGGTTAAGGCGAGTTTTCCCA	0.333000													3	64					0	0	6.4e-05	0	0
NT5DC3	51559	broad.mit.edu	37	12	104190697	104190697	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:104190697G>C	ENST00000392876.3	-	6	768	c.728C>G	c.(727-729)cCt>cGt	p.P243R	NT5DC3_ENST00000465502.1_5'UTR	NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	243							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						CAGATGCACAGGCTCATAGTC	0.473000													4	133					0	0	3.59834e-05	0	0
CHODL	140578	broad.mit.edu	37	21	19638392	19638392	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:19638392G>A	ENST00000338326.3	+	5	1147	c.633G>A	c.(631-633)ctG>ctA	p.L211L	CHODL_ENST00000543733.1_3'UTR|CHODL_ENST00000299295.2_3'UTR|CHODL_ENST00000400131.1_Silent_p.L211L|CHODL_ENST00000400128.1_3'UTR|CHODL_ENST00000400135.1_Silent_p.L211L|CHODL_ENST00000400127.1_3'UTR			Q9H9P2	CHODL_HUMAN	chondrolectin	0					muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		TTGTAATTCTGGATCTGTATA	0.388000													4	42					0	0	0.00024832	0	0
HTATSF1	27336	broad.mit.edu	37	X	135582917	135582917	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:135582917C>A	ENST00000535601.1	+	5	932	c.510C>A	c.(508-510)gtC>gtA	p.V170V	HTATSF1_ENST00000218364.4_Silent_p.V170V	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	170	RRM 1.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					AATTTAAGGTCAAACTTTACA	0.328000													10	362					2.80697e-09	5.44685e-08	6.40141e-05	1	0
TRPC6	7225	broad.mit.edu	37	11	101344405	101344405	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:101344405G>C	ENST00000344327.3	-	7	2268	c.1844C>G	c.(1843-1845)cCa>cGa	p.P615R	TRPC6_ENST00000360497.4_Missense_Mutation_p.P560R|TRPC6_ENST00000348423.4_Missense_Mutation_p.P499R|TRPC6_ENST00000532133.1_Missense_Mutation_p.P537R	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	615					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TTCATTTGCTGGTAAAATATA	0.383000													4	93					0	0	0.000602214	0	0
UBXN6	80700	broad.mit.edu	37	19	4446513	4446513	+	Missense_Mutation	SNP	G	G	A	rs145303168	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:4446513G>A	ENST00000301281.6	-	8	1028	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W	UBXN6_ENST00000394765.3_Missense_Mutation_p.R249W	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	302						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						CTCTGCTCCCGCTTGATCTCC	0.692000													5	40					0	0	0.000602214	0	0
MSH4	4438	broad.mit.edu	37	1	76333261	76333261	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:76333261G>T	ENST00000263187.3	+	9	1397	c.1293G>T	c.(1291-1293)gtG>gtT	p.V431V		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	431					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TGGAACTTGTGGATCCTTTAA	0.303000								Mismatch excision repair (MMR)					6	102					0.000673444	0.0084606	0.000673444	1	0
SERPIND1	3053	broad.mit.edu	37	22	21138281	21138281	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:21138281C>G	ENST00000215727.5	+	3	1194	c.911C>G	c.(910-912)cCa>cGa	p.P304R	PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.P304R	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	304					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	AATAAATTCCCAGTGGAAATG	0.468000											OREG0026325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	175					0	0	0.000274275	0	0
ZNF107	51427	broad.mit.edu	37	7	64169007	64169007	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:64169007C>T	ENST00000395391.1	+	4	3700	c.2325C>T	c.(2323-2325)ccC>ccT	p.P775P	ZNF107_ENST00000423627.1_Silent_p.P775P|ZNF107_ENST00000344930.3_Silent_p.P775P			Q9UII5	ZN107_HUMAN	zinc finger protein 107	775					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				GAGAGAAACCCTACAAATGTG	0.353000													4	46					0	0	0.00024832	0	0
STAT3	6774	broad.mit.edu	37	17	40481467	40481467	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:40481467C>A	ENST00000264657.5	-	14	1554	c.1242G>T	c.(1240-1242)agG>agT	p.R414S	STAT3_ENST00000588969.1_Missense_Mutation_p.R414S|STAT3_ENST00000389272.3_Missense_Mutation_p.R316S|STAT3_ENST00000404395.3_Missense_Mutation_p.R414S|STAT3_ENST00000585517.1_Missense_Mutation_p.R414S	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)	414					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)		ATCTCTGCTCCCTCAGGGTCT	0.547000									Hyperimmunoglobulin E Recurrent Infection Syndrome				8	215					2.80697e-09	5.44685e-08	6.40141e-05	1	0
KANSL1L	151050	broad.mit.edu	37	2	211018610	211018610	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:211018610T>C	ENST00000281772.9	-	2	960	c.697A>G	c.(697-699)Att>Gtt	p.I233V	KANSL1L_ENST00000418791.1_Missense_Mutation_p.I233V|KANSL1L_ENST00000452086.1_Missense_Mutation_p.I233V|KANSL1L_ENST00000457374.1_Missense_Mutation_p.I233V	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	233																	CTAAGTAAAATTTTCTGTTTG	0.403000													8	100					0	0	0.000157383	0	0
MBTPS1	8720	broad.mit.edu	37	16	84100180	84100180	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:84100180G>C	ENST00000343411.3	-	17	2762	c.2267C>G	c.(2266-2268)cCa>cGa	p.P756R		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	756					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ATTCAGAGCTGGGATGTTAGC	0.522000													4	62					0	0	3.59834e-05	0	0
RASGEF1B	153020	broad.mit.edu	37	4	82355091	82355091	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:82355091C>G	ENST00000509081.1	-	12	1445	c.1224G>C	c.(1222-1224)gtG>gtC	p.V408V	RASGEF1B_ENST00000335927.7_Silent_p.V367V|RASGEF1B_ENST00000264400.2_Silent_p.V409V			Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	409	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						TAAATTCACTCACTTGTTTGG	0.378000													5	252					0	0	0.000274275	0	0
KIAA1549	57670	broad.mit.edu	37	7	138591834	138591834	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:138591834G>A	ENST00000440172.1	-	6	3339	c.3291C>T	c.(3289-3291)acC>acT	p.T1097T	KIAA1549_ENST00000422774.1_Silent_p.T1097T|KIAA1549_ENST00000242365.4_Silent_p.T1047T	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1097						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AGGAACTGATGGTGATATTCA	0.438000			O	BRAF	pilocytic astrocytoma								4	57					0	0	3.59834e-05	0	0
ZNF382	84911	broad.mit.edu	37	19	37117341	37117341	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:37117341C>G	ENST00000435416.1	+	3	2034	c.539C>G	c.(538-540)cCt>cGt	p.P180R	ZNF382_ENST00000423582.1_Missense_Mutation_p.P132R|ZNF382_ENST00000439428.1_Missense_Mutation_p.P180R|ZNF382_ENST00000292928.2_Missense_Mutation_p.P181R			Q96SR6	ZN382_HUMAN	zinc finger protein 382	181	Represses transcription (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAAATTCATCCTGCAGTGAAT	0.403000													5	144					0	0	8.12818e-05	0	0
TSPYL5	85453	broad.mit.edu	37	8	98289019	98289019	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:98289019C>A	ENST00000322128.3	-	1	1157	c.1054G>T	c.(1054-1056)Ggg>Tgg	p.G352W		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	352					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GAAAACCACCCAAAGAAACTA	0.488000													9	170					0.000673444	0.0084606	0.000673444	1	0
PFKL	5211	broad.mit.edu	37	21	45736184	45736184	+	Missense_Mutation	SNP	C	C	G	rs150642566		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:45736184C>G	ENST00000403390.1	+	9	946	c.946C>G	c.(946-948)Cgc>Ggc	p.R316G	PFKL_ENST00000349048.4_Missense_Mutation_p.R269G|PFKL_ENST00000496824.1_3'UTR			P17858	K6PL_HUMAN	phosphofructokinase, liver	269					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		TGCCATTGACCGCAACGGGAA	0.642000													4	77					0	0	3.59834e-05	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53672324	53672324	+	Splice_Site	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:53672324C>A	ENST00000379925.3	-	20	3009		c.e20-1		RPGRIP1L_ENST00000262135.4_Intron|RPGRIP1L_ENST00000564374.1_Splice_Site|RPGRIP1L_ENST00000563746.1_Intron	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like						negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GAGAAGTCTCCTTATATTAAT	0.333000													11	273					0.000219431	0.00327883	0.000219431	1	0
ALAD	210	broad.mit.edu	37	9	116155812	116155812	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:116155812C>G	ENST00000409155.3	-	2	224	c.28G>C	c.(28-30)Ggc>Cgc	p.G10R	ALAD_ENST00000277315.5_Missense_Mutation_p.G10R	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	10					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	TGGAAGTAGCCGCTGTGCAGA	0.612000													3	38					0	0	6.4e-05	0	0
KMT2C	58508	broad.mit.edu	37	7	151880143	151880143	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:151880143G>C	ENST00000355193.2	-	35	5399	c.5181C>G	c.(5179-5181)ccC>ccG	p.P1727P	KMT2C_ENST00000262189.6_Silent_p.P1727P					lysine (K)-specific methyltransferase 2C																		TACGAGAGCTGGGATCAATGC	0.373000													7	345					0	0	0.000157383	0	0
KRT26	353288	broad.mit.edu	37	17	38928300	38928300	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:38928300G>C	ENST00000335552.4	-	1	114	c.66C>G	c.(64-66)tcC>tcG	p.S22S		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	22	Gly-rich.|Head.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				TTCCTCCACCGGACAGCCTAC	0.557000													8	123					0	0	0.000442599	0	0
CCDC171	203238	broad.mit.edu	37	9	15723727	15723727	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:15723727C>G	ENST00000380701.3	+	13	1802	c.1474C>G	c.(1474-1476)Cac>Gac	p.H492D	CCDC171_ENST00000297641.3_Missense_Mutation_p.H492D	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	492																	GATAGACTCTCACACTAAAAA	0.264000													5	91					0	0	3.59834e-05	0	0
COX15	1355	broad.mit.edu	37	10	101476172	101476172	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:101476172C>A	ENST00000370483.5	-	8	1084	c.1034G>T	c.(1033-1035)cGg>cTg	p.R345L	CUTC_ENST00000493385.1_Intron|COX15_ENST00000016171.5_Missense_Mutation_p.R345L|COX15_ENST00000497381.1_5'UTR	NM_004376.5|NM_078470.4	NP_004367.2|NP_510870.1	Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	345					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	p.R345L(1)		endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		GGGAATTCTCCGAGAGAGGAA	0.458000													5	102					1.23904e-05	0.000214228	0.000602214	1	0
BAZ1A	11177	broad.mit.edu	37	14	35270308	35270308	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:35270308T>C	ENST00000360310.1	-	8	1520	c.953A>G	c.(952-954)aAg>aGg	p.K318R	BAZ1A_ENST00000382422.2_Missense_Mutation_p.K318R|BAZ1A_ENST00000358716.4_Missense_Mutation_p.K318R	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	318					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		ACCCAGTGACTTCATTTCTTC	0.353000													11	88					0	0	6.40141e-05	0	0
LRRC14B	389257	broad.mit.edu	37	5	195314	195314	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:195314G>C	ENST00000328278.3	+	2	1419	c.1391G>C	c.(1390-1392)cGg>cCg	p.R464P		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	464										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						GTGCTGCTGCGGGCTGACCGA	0.562000													6	139					0	0	0.000157383	0	0
DHX8	1659	broad.mit.edu	37	17	41590868	41590868	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:41590868C>A	ENST00000262415.3	+	17	2713	c.2641C>A	c.(2641-2643)Cag>Aag	p.Q881K	DHX8_ENST00000540306.1_Missense_Mutation_p.Q881K	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	881	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GCCTATTTCTCAGGTATGACG	0.388000													6	99					0.000442599	0.00584094	0.000442599	1	0
PKP2	5318	broad.mit.edu	37	12	32949100	32949100	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:32949100C>T	ENST00000340811.4	-	11	2408	c.2300G>A	c.(2299-2301)cGc>cAc	p.R767H	PKP2_ENST00000070846.6_Missense_Mutation_p.R811H	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	811					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TAGAAGGTCGCGTGCATTCTG	0.493000													15	90					0	0	0.000566183	0	0
FLG	2312	broad.mit.edu	37	1	152281912	152281912	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:152281912G>C	ENST00000368799.1	-	3	5485	c.5450C>G	c.(5449-5451)cCa>cGa	p.P1817R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1817	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTTGACCCTGGGTGTCCACG	0.587000									Ichthyosis				6	290					0	0	0.000442599	0	0
HERC5	51191	broad.mit.edu	37	4	89393580	89393580	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:89393580C>A	ENST00000264350.3	+	11	1472	c.1319C>A	c.(1318-1320)cCt>cAt	p.P440H	HERC5_ENST00000508159.1_Missense_Mutation_p.P78H	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	440					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GAAATGATGCCTGTTTATTTG	0.338000													7	243					0.000442599	0.00584094	0.000442599	1	0
GREM1	26585	broad.mit.edu	37	15	33023301	33023301	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:33023301C>T	ENST00000300177.4	+	2	599	c.410C>T	c.(409-411)tCc>tTc	p.S137F	GREM1_ENST00000560830.1_Missense_Mutation_p.S96F|GREM1_ENST00000560677.1_3'UTR|GREM1_ENST00000322805.4_Missense_Mutation_p.S96F	NM_001191322.1|NM_001191323.1|NM_013372.6	NP_001178251.1|NP_001178252.1|NP_037504.1	O60565	GREM1_HUMAN	gremlin 1, DAN family BMP antagonist	137	CTCK.				negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition	extracellular space	cytokine activity	p.S137Y(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10		all_lung(180;1.49e-09)		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)		GAGGAAGGTTCCTTTCAGTCC	0.522000													14	63					0	0	0.000308642	0	0
USP4	7375	broad.mit.edu	37	3	49348974	49348974	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:49348974C>G	ENST00000265560.4	-	7	855	c.809G>C	c.(808-810)gGg>gCg	p.G270A	USP4_ENST00000488520.1_5'UTR|USP4_ENST00000351842.4_Intron	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	270					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		ACTGTGCATCCCACAGGTGCT	0.502000													4	64					0	0	0.00024832	0	0
KALRN	8997	broad.mit.edu	37	3	124415024	124415024	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:124415024C>A	ENST00000360013.3	+	54	7748	c.7621C>A	c.(7621-7623)Caa>Aaa	p.Q2541K	KALRN_ENST00000428018.2_Missense_Mutation_p.Q812K|KALRN_ENST00000291478.4_Missense_Mutation_p.Q844K	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2540	Ig-like C2-type.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCTGATGCCCCAAGACAGTGG	0.463000													8	113					1.12685e-05	0.000195397	0.000274275	1	0
MAP2K5	5607	broad.mit.edu	37	15	67985858	67985858	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:67985858G>T	ENST00000178640.5	+	15	1551	c.924G>T	c.(922-924)ctG>ctT	p.L308L	MAP2K5_ENST00000340972.4_Silent_p.L118L|MAP2K5_ENST00000354498.5_Silent_p.L272L|MAP2K5_ENST00000395476.2_Silent_p.L308L	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	308	Protein kinase.				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						TCTCATAGCTGGTGAATTCTA	0.294000													7	165					0.000442599	0.00584094	0.000442599	1	0
CDC34	997	broad.mit.edu	37	19	535858	535858	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:535858G>T	ENST00000215574.4	+	2	417	c.199G>T	c.(199-201)Gac>Tac	p.D67Y		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	67					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTCCCCATCGACTACCCATA	0.632000													6	262					0.000673444	0.0084606	0.000673444	1	0
RAP1GAP	5909	broad.mit.edu	37	1	21935403	21935403	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:21935403C>A	ENST00000542643.2	-	17	1400	c.1098G>T	c.(1096-1098)ctG>ctT	p.L366L	RAP1GAP_ENST00000374765.4_Silent_p.L366L|RAP1GAP_ENST00000374763.2_Silent_p.L366L|RAP1GAP_ENST00000290101.4_Silent_p.L430L|RAP1GAP_ENST00000374761.2_Silent_p.L397L	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	366	Rap-GAP.				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		TCAGCTTTGTCAGCAAAAATT	0.512000													7	179					0.000673444	0.0084606	0.000673444	1	0
KIF27	55582	broad.mit.edu	37	9	86503438	86503438	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:86503438C>A	ENST00000297814.2	-	8	2192	c.2049G>T	c.(2047-2049)caG>caT	p.Q683H	KIF27_ENST00000413982.1_Missense_Mutation_p.Q683H|KIF27_ENST00000376347.1_Missense_Mutation_p.Q74H|KIF27_ENST00000334204.2_Missense_Mutation_p.Q683H	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	683					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						GTGTTTCATCCTGAGTATCAC	0.333000													6	65					0.000274275	0.0038898	0.000274275	1	0
LIG4	3981	broad.mit.edu	37	13	108862203	108862203	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:108862203C>T	ENST00000356922.4	-	2	1686	c.1414G>A	c.(1414-1416)Ggt>Agt	p.G472S	LIG4_ENST00000405925.1_Missense_Mutation_p.G472S|LIG4_ENST00000442234.1_Missense_Mutation_p.G472S	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	472					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					GATCCTTTACCCCAATATCCT	0.443000								Non-homologous end-joining					6	281					0	0	0.000442599	0	0
GORAB	92344	broad.mit.edu	37	1	170501358	170501358	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:170501358C>A	ENST00000367763.3	+	1	89	c.69C>A	c.(67-69)ccC>ccA	p.P23P	RP11-576I22.2_ENST00000456083.1_RNA|GORAB_ENST00000367762.1_Silent_p.P23P	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	23						Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						GCCGGTGGCCCGGGCCGATGG	0.572000													7	123					0.000274275	0.0038898	0.000274275	1	0
INTS7	25896	broad.mit.edu	37	1	212149961	212149961	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:212149961C>A	ENST00000366994.3	-	12	1675	c.1571G>T	c.(1570-1572)tGg>tTg	p.W524L	INTS7_ENST00000366992.3_Missense_Mutation_p.W524L|INTS7_ENST00000440600.2_Missense_Mutation_p.W475L|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_Missense_Mutation_p.W524L	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	524					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GTATACAGTCCATCCATTGGA	0.433000													6	126					0.000274275	0.0038898	0.000274275	1	0
ACAN	176	broad.mit.edu	37	15	89416118	89416118	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:89416118G>T	ENST00000439576.2	+	16	7569	c.7195G>T	c.(7195-7197)Gag>Tag	p.E2399*	ACAN_ENST00000561243.1_Nonsense_Mutation_p.E2399*|ACAN_ENST00000559004.1_Nonsense_Mutation_p.E2361*|ACAN_ENST00000352105.7_Nonsense_Mutation_p.E2361*	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2399					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			ACAGCAATTTGAGAACTGGCG	0.577000													5	50					0.000274275	0.0038898	0.000274275	1	0
CEP41	95681	broad.mit.edu	37	7	130044500	130044500	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:130044500G>T	ENST00000223208.4	-	6	597	c.327C>A	c.(325-327)acC>acA	p.T109T	CEP41_ENST00000541543.1_Silent_p.T93T|CEP41_ENST00000343969.5_Silent_p.T109T	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	109					G2/M transition of mitotic cell cycle	centrosome|cytosol											CTTTCCCATTGGTCCTGGCAG	0.463000													11	286					3.52763e-06	6.31522e-05	0.000566183	1	0
ESR2	2100	broad.mit.edu	37	14	64727201	64727201	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:64727201C>A	ENST00000557772.1	-	4	917	c.918G>T	c.(916-918)ttG>ttT	p.L306F	ESR2_ENST00000553796.1_Missense_Mutation_p.L306F|ESR2_ENST00000341099.4_Missense_Mutation_p.L306F|ESR2_ENST00000353772.3_Missense_Mutation_p.L306F|ESR2_ENST00000554572.1_Missense_Mutation_p.L306F|ESR2_ENST00000357782.2_Missense_Mutation_p.L306F|ESR2_ENST00000542956.1_Missense_Mutation_p.L306F|ESR2_ENST00000555278.1_Missense_Mutation_p.L306F|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000358599.5_Missense_Mutation_p.L306F|ESR2_ENST00000267525.6_Missense_Mutation_p.L306F	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	306	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	TCATGTGTACCAACTCCTTGT	0.562000													7	152					2.17888e-05	0.00037262	0.000442599	1	0
NUF2	83540	broad.mit.edu	37	1	163298659	163298659	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:163298659G>C	ENST00000271452.3	+	5	578	c.299G>C	c.(298-300)cGg>cCg	p.R100P	NUF2_ENST00000490881.1_3'UTR|NUF2_ENST00000524800.1_Missense_Mutation_p.R100P|NUF2_ENST00000367900.3_Missense_Mutation_p.R100P	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	100	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					CCTATCTGCCGGGTGAATGAC	0.348000													4	85					0	0	0.000157383	0	0
UNC45B	146862	broad.mit.edu	37	17	33491143	33491143	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:33491143C>T	ENST00000268876.5	+	9	1206	c.1109C>T	c.(1108-1110)cCg>cTg	p.P370L	UNC45B_ENST00000378449.1_Missense_Mutation_p.P370L|UNC45B_ENST00000433649.1_Missense_Mutation_p.P370L|UNC45B_ENST00000591048.1_Missense_Mutation_p.P370L|UNC45B_ENST00000394570.2_Missense_Mutation_p.P370L	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	370					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CGCTGTGACCCGGAGCGCGAT	0.542000													6	212					0	0	0.000442599	0	0
PIR	8544	broad.mit.edu	37	X	15408313	15408313	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:15408313G>C	ENST00000380421.3	-	9	1214	c.754C>G	c.(754-756)Caa>Gaa	p.Q252E	PIR_ENST00000380420.5_Missense_Mutation_p.Q252E	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)	252					transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					TTACCATGTTGGATAACTGGT	0.353000													5	112					0	0	0.000602214	0	0
OFD1	8481	broad.mit.edu	37	X	13778414	13778414	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:13778414C>A	ENST00000380567.1	+	17	2287	c.1415C>A	c.(1414-1416)cCa>cAa	p.P472Q	OFD1_ENST00000380550.3_Missense_Mutation_p.P572Q|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000340096.6_Missense_Mutation_p.P612Q			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	612					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						ACAAATTATCCAACTGCATGG	0.458000													7	189					0.000274275	0.0038898	0.000274275	1	0
NLRP13	126204	broad.mit.edu	37	19	56424240	56424240	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:56424240C>T	ENST00000588751.1	-	5	967	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K	NLRP13_ENST00000342929.3_Missense_Mutation_p.E315K			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	315	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATGATTATTTCCTCAAAGCCA	0.453000													24	77					0	0	0.00047179	0	0
VPS33B	26276	broad.mit.edu	37	15	91560207	91560207	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:91560207G>T	ENST00000333371.3	-	3	578	c.225C>A	c.(223-225)ctC>ctA	p.L75L	VPS33B_ENST00000557358.1_Intron|VPS33B_ENST00000535906.1_Silent_p.L48L|VPS33B_ENST00000535843.1_Intron	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	75					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					CATTGGAGCTGAGGGCTGGCT	0.498000													9	385					0.000673444	0.0084606	0.000673444	1	0
PSMB8	5696	broad.mit.edu	37	6	32811685	32811685	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:32811685G>C	ENST00000374882.3	-	1	139	c.89C>G	c.(88-90)cCa>cGa	p.P30R	PSMB8_ENST00000395339.3_Missense_Mutation_p.P30R|PSMB8_ENST00000374881.2_Intron	NM_148919.3	NP_683720.2	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	30			PGH -> RPD (in LPM7C).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11						GTAGTGTCCTGGGTCCGAGCG	0.662000													4	148					0	0	3.59834e-05	0	0
LTBP4	8425	broad.mit.edu	37	19	41128898	41128898	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:41128898G>T	ENST00000308370.7	+	28	3726	c.3726G>T	c.(3724-3726)gcG>gcT	p.A1242A	LTBP4_ENST00000545697.1_Silent_p.A610A|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000204005.9_Silent_p.A1205A|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Silent_p.A1175A	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1243					growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTACCTGGCGCCCAGTGGAG	0.632000													4	26					0.000157383	0.00236471	0.000157383	1	0
U2SURP	23350	broad.mit.edu	37	3	142731154	142731154	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:142731154C>G	ENST00000473835.2	+	3	271	c.181C>G	c.(181-183)Cgt>Ggt	p.R61G	U2SURP_ENST00000493598.2_Missense_Mutation_p.R61G|U2SURP_ENST00000397933.2_5'UTR	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	61					RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						TGAAAGTGCCCGTGAAAGCCT	0.388000													3	34					0	0	6.4e-05	0	0
PAG1	55824	broad.mit.edu	37	8	81897257	81897257	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:81897257C>A	ENST00000220597.4	-	7	1340	c.630G>T	c.(628-630)tcG>tcT	p.S210S		NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid microdomains 1	210					epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			GGAGCTCTTTCGAGGCAGAAG	0.488000													5	124					5.18039e-06	9.2077e-05	0.000157383	1	0
ACACA	31	broad.mit.edu	37	17	35557127	35557127	+	Splice_Site	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:35557127C>A	ENST00000353139.5	-	35	4595		c.e35-1		ACACA_ENST00000360679.3_Splice_Site|ACACA_ENST00000394406.2_Splice_Site|ACACA_ENST00000335166.5_Splice_Site	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha						acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTCTGAAATCCTTTCAAATAA	0.318000													7	125					0.000442599	0.00584094	0.000442599	1	0
DHX57	90957	broad.mit.edu	37	2	39033767	39033767	+	Silent	SNP	A	A	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:39033767A>T	ENST00000295373.6	-	22	3876	c.3750T>A	c.(3748-3750)gcT>gcA	p.A1250A		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1250							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ACTTCAACTCAGCTGATTTTG	0.383000													5	148					0	0	3.59834e-05	0	0
RAB41	347517	broad.mit.edu	37	X	69504151	69504151	+	Silent	SNP	A	A	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:69504151A>G	ENST00000374473.2	+	7	631	c.585A>G	c.(583-585)acA>acG	p.T195T	RAB41_ENST00000276066.4_Silent_p.T194T			Q5JT25	RAB41_HUMAN	RAB41, member RAS oncogene family	195					protein transport|small GTPase mediated signal transduction		GTP binding			breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)	14						TTCTTTCCACAAGGACTTCAC	0.458000													5	129					0	0	3.59834e-05	0	0
NPSR1	387129	broad.mit.edu	37	7	34889216	34889216	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:34889216G>A	ENST00000381539.3	+	10	1169	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	NPSR1_ENST00000531252.1_Intron|NPSR1_ENST00000360581.1_Silent_p.E355E|NPSR1_ENST00000359791.1_Intron|NPSR1_ENST00000381542.1_Silent_p.E289E			Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	0						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CGTTCCGGGAGAGAACTGAGA	0.488000													14	132					0	0	0.000422831	0	0
ZMYM5	9205	broad.mit.edu	37	13	20425854	20425854	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:20425854G>C	ENST00000337963.4	-	3	731	c.467C>G	c.(466-468)tCc>tGc	p.S156C	ZMYM5_ENST00000382907.4_Missense_Mutation_p.S156C|ZMYM5_ENST00000382905.4_Missense_Mutation_p.S156C	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	156						nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ACTGGAAGTGGAGAAATCCAA	0.373000													4	170					0	0	3.59834e-05	0	0
GSTM3	2947	broad.mit.edu	37	1	110280350	110280350	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:110280350C>A	ENST00000540225.1	-	7	706	c.396G>T	c.(394-396)ttG>ttT	p.L132F	GSTM3_ENST00000361066.2_Missense_Mutation_p.L132F|GSTM3_ENST00000256594.3_Missense_Mutation_p.L132F|GSTM3_ENST00000488824.1_5'UTR|RP4-735C1.4_ENST00000431955.1_RNA			P21266	GSTM3_HUMAN	glutathione S-transferase mu 3 (brain)	132	GST C-terminal.				establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	GTAGCTCTTCCAAGTACTGAG	0.438000													9	162					0.000274275	0.0038898	0.000274275	1	0
ABCA12	26154	broad.mit.edu	37	2	215868948	215868948	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:215868948G>T	ENST00000272895.7	-	20	2887	c.2668C>A	c.(2668-2670)Cag>Aag	p.Q890K	ABCA12_ENST00000389661.4_Missense_Mutation_p.Q572K	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	890					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCATCTATCTGTTTCAATAGT	0.353000													5	60					0.000274275	0.0038898	0.000274275	1	0
CHD9	80205	broad.mit.edu	37	16	53337938	53337938	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:53337938C>A	ENST00000566029.1	+	31	6229	c.6020C>A	c.(6019-6021)gCt>gAt	p.A2007D	CHD9_ENST00000564845.1_Missense_Mutation_p.A2007D|CHD9_ENST00000398510.3_Missense_Mutation_p.A2007D|CHD9_ENST00000447540.1_Missense_Mutation_p.A2007D			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2007					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AGTAAGATGGCTCATTCAAGG	0.458000													7	133					0.000274275	0.0038898	0.000274275	1	0
ICOS	29851	broad.mit.edu	37	2	204820445	204820445	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:204820445C>G	ENST00000316386.6	+	2	212	c.145C>G	c.(145-147)Cag>Gag	p.Q49E	ICOS_ENST00000435193.1_Missense_Mutation_p.Q49E	NM_012092.3	NP_036224.1	Q9Y6W8	ICOS_HUMAN	inducible T-cell co-stimulator	49	Ig-like V-type.				immune response|T cell costimulation	extracellular region				breast(1)|large_intestine(1)|lung(4)	6						TGACATTGTCCAGCAATTTAA	0.368000													4	80					0	0	3.59834e-05	0	0
FBF1	85302	broad.mit.edu	37	17	73915951	73915951	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:73915951G>A	ENST00000586717.1	-	19	2167	c.1894C>T	c.(1894-1896)Cgc>Tgc	p.R632C	FBF1_ENST00000319129.5_Missense_Mutation_p.R631C|FBF1_ENST00000389570.4_Missense_Mutation_p.R632C			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	631										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						ACCTTGATGCGGCTTCTGCCA	0.612000													4	63					0	0	0.000157383	0	0
KIAA0430	9665	broad.mit.edu	37	16	15702171	15702171	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:15702171G>T	ENST00000396368.3	-	21	4365	c.4159C>A	c.(4159-4161)Cag>Aag	p.Q1387K	KIAA0430_ENST00000540441.2_Missense_Mutation_p.Q1222K|KIAA0430_ENST00000344181.3_Missense_Mutation_p.Q989K|KIAA0430_ENST00000548025.1_Missense_Mutation_p.Q1384K|KIAA0430_ENST00000602337.1_Missense_Mutation_p.Q1384K|KIAA0430_ENST00000551742.1_Missense_Mutation_p.Q1387K	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	1386						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CAGAGTTTCTGAGTTAAAGCC	0.353000													8	131					3.09899e-07	5.78755e-06	0.000274275	1	0
ART3	419	broad.mit.edu	37	4	77033574	77033574	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:77033574C>T	ENST00000355810.4	+	12	1191	c.1072C>T	c.(1072-1074)Cat>Tat	p.H358Y	ART3_ENST00000341029.5_Missense_Mutation_p.H336Y|ART3_ENST00000349321.3_Missense_Mutation_p.H347Y	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	358					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCCCAAAAGCCATCCTTCTGC	0.418000													5	106					0	0	0.000602214	0	0
NCAPG2	54892	broad.mit.edu	37	7	158447921	158447921	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:158447921G>T	ENST00000409339.3	-	21	2648	c.2535C>A	c.(2533-2535)tcC>tcA	p.S845S	NCAPG2_ENST00000409423.1_Silent_p.S845S|NCAPG2_ENST00000449727.2_Silent_p.S845S|NCAPG2_ENST00000275830.10_Silent_p.S637S|NCAPG2_ENST00000356309.3_Silent_p.S845S|NCAPG2_ENST00000541468.1_Silent_p.S346S			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	845					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CTTCCAACATGGACAAATACA	0.378000													10	219					0.000308642	0.00436061	0.000308642	1	0
HAP1	9001	broad.mit.edu	37	17	39880997	39880997	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:39880997G>A	ENST00000393939.2	-	10	1750	c.1741C>T	c.(1741-1743)Ctc>Ttc	p.L581F	HAP1_ENST00000347901.4_Missense_Mutation_p.L606F|JUP_ENST00000540235.1_Intron|HAP1_ENST00000310778.5_Missense_Mutation_p.L658F|HAP1_ENST00000341193.5_Missense_Mutation_p.L589F			P54257	HAP1_HUMAN	huntingtin-associated protein 1	658	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GCGGCAGGGAGGGCCCCGTGG	0.617000													5	159					0	0	8.12818e-05	0	0
WIPF2	147179	broad.mit.edu	37	17	38433420	38433420	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:38433420C>A	ENST00000323571.4	+	7	1506	c.1266C>A	c.(1264-1266)ccC>ccA	p.P422P	WIPF2_ENST00000583130.1_Silent_p.P422P|WIPF2_ENST00000585043.1_Silent_p.P422P|WIPF2_ENST00000536600.1_Silent_p.P164P|WIPF2_ENST00000394103.3_Silent_p.P164P|WIPF2_ENST00000494757.1_3'UTR	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	422						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						GGATATATCCCAGCAAAACAA	0.348000										HNSCC(43;0.11)			11	143					7.93312e-07	1.45693e-05	0.000219431	1	0
LRP2	4036	broad.mit.edu	37	2	170135891	170135891	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:170135891G>C	ENST00000263816.3	-	12	1841	c.1556C>G	c.(1555-1557)cCa>cGa	p.P519R	LRP2_ENST00000443831.1_Missense_Mutation_p.P519R	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	519					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCCAACAGTTGGGTCCACGGC	0.403000													4	65					0	0	0.00024832	0	0
TDRD5	163589	broad.mit.edu	37	1	179600044	179600044	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:179600044C>T	ENST00000444136.1	+	7	1365	c.1115C>T	c.(1114-1116)cCt>cTt	p.P372L	TDRD5_ENST00000367614.1_Missense_Mutation_p.P372L|TDRD5_ENST00000294848.8_Missense_Mutation_p.P372L	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	372	Lotus/OST-HTH 3.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GATAAGAAGCCTCTACCACCT	0.403000													22	100					0	0	0.00047179	0	0
DENND5A	23258	broad.mit.edu	37	11	9187442	9187442	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:9187442C>A	ENST00000328194.3	-	11	2544	c.2224G>T	c.(2224-2226)Gtg>Ttg	p.V742L	DENND5A_ENST00000527700.1_Missense_Mutation_p.V85L|DENND5A_ENST00000530044.1_Missense_Mutation_p.V742L	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	742										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGGGCAATCACTGATGGAGAG	0.468000													6	88					0.000157383	0.00236471	0.000157383	1	0
SCN10A	6336	broad.mit.edu	37	3	38835447	38835447	+	Missense_Mutation	SNP	C	C	G	rs141810266		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:38835447C>G	ENST00000449082.2	-	1	54	c.55G>C	c.(55-57)Gag>Cag	p.E19Q		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	19					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ACCAGTGACTCCGGAGTAAAG	0.458000													4	107					0	0	0.00024832	0	0
SIK3	23387	broad.mit.edu	37	11	116798079	116798079	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:116798079C>G	ENST00000375300.1	-	4	477	c.472G>C	c.(472-474)Ggt>Cgt	p.G158R	SIK3_ENST00000434315.2_5'UTR|SIK3_ENST00000446921.2_Missense_Mutation_p.G158R|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000292055.4_Missense_Mutation_p.G100R|SIK3_ENST00000542607.1_Missense_Mutation_p.G100R			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	100	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GCCATTCTACCATGGGCCACC	0.433000													5	290					0	0	0.000442599	0	0
NEXN	91624	broad.mit.edu	37	1	78383855	78383855	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:78383855A>G	ENST00000330010.8	+	4	449	c.152A>G	c.(151-153)gAg>gGg	p.E51G	NEXN_ENST00000294624.8_Missense_Mutation_p.E115G|NEXN_ENST00000457030.1_Missense_Mutation_p.E115G|NEXN_ENST00000334785.7_Missense_Mutation_p.E115G	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	115	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		CAAAGACAAGAGGAACAAAGG	0.353000													6	130					0	0	3.59834e-05	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54654434	54654434	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:54654434C>G	ENST00000230640.5	+	15	1821	c.1567C>G	c.(1567-1569)Cgt>Ggt	p.R523G	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.R422G	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	523	Helicase C-terminal.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GATGTCTGGTCGTGCTGGAAG	0.323000													5	117					0	0	0.000602214	0	0
ISM1	140862	broad.mit.edu	37	20	13251353	13251353	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:13251353C>T	ENST00000262487.3	+	2	347	c.341C>T	c.(340-342)tCc>tTc	p.S114F	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	114						extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CCAGATCTTTCCAAAGCTGAT	0.443000													5	66					0	0	0.000602214	0	0
ASCC3	10973	broad.mit.edu	37	6	101037557	101037557	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:101037557G>C	ENST00000369162.2	-	36	5847	c.5503C>G	c.(5503-5505)Cgc>Ggc	p.R1835G		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1835	SEC63 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GGCTTCAAGCGGTCCTTGAAC	0.343000													4	139					0	0	3.59834e-05	0	0
SWT1	54823	broad.mit.edu	37	1	185144099	185144099	+	Missense_Mutation	SNP	C	C	A	rs146664882	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:185144099C>A	ENST00000367500.4	+	5	985	c.820C>A	c.(820-822)Cag>Aag	p.Q274K	SWT1_ENST00000367501.3_Missense_Mutation_p.Q274K	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	274										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						GGAAAGCTCCCAGGTTTCATT	0.368000													9	184					0.000274275	0.0038898	0.000274275	1	0
ANKFY1	51479	broad.mit.edu	37	17	4111378	4111378	+	Splice_Site	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:4111378C>A	ENST00000341657.4	-	6	618		c.e6-1		ANKFY1_ENST00000433651.1_Splice_Site|ANKFY1_ENST00000570535.1_Splice_Site|ANKFY1_ENST00000574367.1_Splice_Site	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1							endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TCAGGTCGTCCTGAGAATTCA	0.443000													7	90					0.000274275	0.0038898	0.000274275	1	0
EP400	57634	broad.mit.edu	37	12	132547141	132547141	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000332482.4_Silent_p.Q2706Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2742Q(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597000													5	74					0	0	0.000157383	0	0
RPS6KA3	6197	broad.mit.edu	37	X	20181084	20181084	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:20181084G>T	ENST00000379565.3	-	19	2046	c.1839C>A	c.(1837-1839)acC>acA	p.T613T	RPS6KA3_ENST00000540702.1_Silent_p.T584T|RPS6KA3_ENST00000544447.1_Silent_p.T585T|RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000379548.4_Silent_p.T583T	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	613	Protein kinase 2.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|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	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						ACACTCACCCGGTAAGCATTG	0.343000													6	162					0.000673444	0.0084606	0.000673444	1	0
DEPDC5	9681	broad.mit.edu	37	22	32302357	32302357	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:32302357C>T	ENST00000400246.1	+	42	4767	c.4625C>T	c.(4624-4626)cCa>cTa	p.P1542L	DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000266091.3_Silent_p.A1540A|DEPDC5_ENST00000382112.3_Silent_p.A1553A|DEPDC5_ENST00000400248.1_Silent_p.A1531A|DEPDC5_ENST00000400249.2_Silent_p.A1531A|DEPDC5_ENST00000539165.1_Silent_p.A379A|DEPDC5_ENST00000382111.2_Missense_Mutation_p.P1542L|DEPDC5_ENST00000535622.1_Silent_p.A1462A			O75140	DEPD5_HUMAN	DEP domain containing 5	0					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GCTCCAGCGCCACAGGGGATG	0.567000													6	128					0	0	3.59834e-05	0	0
MTBP	27085	broad.mit.edu	37	8	121466145	121466145	+	Splice_Site	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:121466145G>C	ENST00000305949.1	+	5	529	c.484_splice	c.e5+1	p.G162_splice		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	162					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TCCTGCTCCTGGTAATATTTT	0.308000													5	172					0	0	0.000157383	0	0
DPYSL3	1809	broad.mit.edu	37	5	146781108	146781108	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:146781108C>G	ENST00000343218.5	-	9	1502	c.1305G>C	c.(1303-1305)ctG>ctC	p.L435L	DPYSL3_ENST00000534907.1_Intron|DPYSL3_ENST00000398514.3_Silent_p.L321L	NM_001197294.1	NP_001184223.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	321					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAACCTGGCCAGCAAGGAGT	0.547000													4	31					0	0	0.000157383	0	0
RAB34	83871	broad.mit.edu	37	17	27042228	27042228	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:27042228G>T	ENST00000395245.3	-	7	1124	c.498C>A	c.(496-498)tcC>tcA	p.S166S	RAB34_ENST00000453384.3_Silent_p.S224S|RAB34_ENST00000450529.1_Intron|RAB34_ENST00000447716.1_Silent_p.S223S|RAB34_ENST00000436730.3_Silent_p.S166S|RAB34_ENST00000395243.3_Intron|RAB34_ENST00000415040.2_Silent_p.S144S|RAB34_ENST00000301043.6_Silent_p.S166S|RAB34_ENST00000395242.2_Silent_p.S167S	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	166					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					GATCCTTCTTGGAACCTACAA	0.577000													5	51					0.000157383	0.00236471	0.000157383	1	0
NMT2	9397	broad.mit.edu	37	10	15154795	15154795	+	Splice_Site	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:15154795C>G	ENST00000378165.4	-	10	1418	c.1338_splice	c.e10+1	p.S446_splice	NMT2_ENST00000378150.1_Splice_Site_p.S433_splice|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000540259.1_Splice_Site_p.S258_splice|NMT2_ENST00000535341.1_Splice_Site_p.S433_splice	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	446					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						AGTGGCTTACCGATTTAGCCA	0.502000													5	75					0	0	0.000157383	0	0
CDCA2	157313	broad.mit.edu	37	8	25361046	25361046	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:25361046G>A	ENST00000330560.3	+	14	2306	c.1829G>A	c.(1828-1830)cGa>cAa	p.R610Q	CDCA2_ENST00000380665.3_Missense_Mutation_p.R595Q|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	610					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CCGAGCATCCGAAGACTGGGT	0.428000													7	89					0	0	0.000274275	0	0
BBS2	583	broad.mit.edu	37	16	56535265	56535265	+	Splice_Site	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:56535265C>G	ENST00000245157.5	-	10	1645	c.1225_splice	c.e10+1	p.D409_splice	BBS2_ENST00000568104.1_Splice_Site_p.D409_splice	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	409					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						ACTGTCTTACCATTAGAAGTG	0.458000									Bardet-Biedl syndrome				6	259					0	0	3.59834e-05	0	0
LMOD1	25802	broad.mit.edu	37	1	201869777	201869777	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:201869777C>T	ENST00000367288.4	-	2	610	c.364G>A	c.(364-366)Ggg>Agg	p.G122R		NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	122					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGCTCCTTCCCCAGATCTGAG	0.527000													29	182					0	0	0.000279167	0	0
HRASLS2	54979	broad.mit.edu	37	11	63327632	63327632	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:63327632C>A	ENST00000255695.1	-	2	101	c.43G>T	c.(43-45)Gag>Tag	p.E15*		NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN	HRAS-like suppressor 2	15					lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						CGAGAAATCTCAATCAGGTCT	0.517000													8	135					0.000442599	0.00584094	0.000442599	1	0
ANKRD26	22852	broad.mit.edu	37	10	27323917	27323917	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:27323917G>T	ENST00000376087.4	-	24	3627	c.3462C>A	c.(3460-3462)caC>caA	p.H1154Q	ANKRD26_ENST00000436985.2_Missense_Mutation_p.H1170Q|ANKRD26_ENST00000376070.3_Missense_Mutation_p.H711Q	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1153						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CAGCCTTGTTGTGGGCATCAT	0.388000													8	195					0.000442599	0.00584094	0.000442599	1	0
ACE2	59272	broad.mit.edu	37	X	15603685	15603685	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:15603685C>G	ENST00000427411.1	-	8	1029	c.813G>C	c.(811-813)tgG>tgC	p.W271C	ACE2_ENST00000252519.3_Missense_Mutation_p.W271C	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	271					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	AAAATCTACCCCACATATCAC	0.348000													4	175					0	0	0.000157383	0	0
NINJ2	4815	broad.mit.edu	37	12	772558	772558	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:772558G>C	ENST00000305108.4	-	1	387	c.107C>G	c.(106-108)cCg>cGg	p.P36R	RP11-218M22.1_ENST00000543884.1_RNA	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	ninjurin 2	0					nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane				large_intestine(3)|lung(1)|ovary(2)	6	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			CACACGCACCGGGTGCCGGGA	0.597000													5	162					0	0	0.000157383	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161852	90161852	+	RNA	SNP	A	A	G	rs11076666	by1000genomes	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:90161852A>G	ENST00000567960.1	+	0	588				TUBB8P7_ENST00000564451.1_RNA																							TAGAAAACGCAGATGAGACCT	0.498000													5	131					0	0	0.000673444	0	0
CPXM2	119587	broad.mit.edu	37	10	125528043	125528043	+	Splice_Site	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:125528043C>G	ENST00000241305.3	-	9	1452	c.1299_splice	c.e9+1	p.G433_splice	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	433					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GGCCATTACCCCTTCGTAGGC	0.612000													4	41					0	0	8.12818e-05	0	0
FASTKD3	79072	broad.mit.edu	37	5	7867440	7867440	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:7867440G>C	ENST00000264669.5	-	2	893	c.757C>G	c.(757-759)Ccg>Gcg	p.P253A	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	253					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATATCCTCCGGGGTAAATGTT	0.363000													5	170					0	0	0.000602214	0	0
C2CD2	25966	broad.mit.edu	37	21	43339023	43339023	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:43339023C>G	ENST00000380486.3	-	4	780	c.539G>C	c.(538-540)tGg>tCg	p.W180S	C2CD2_ENST00000329623.7_Missense_Mutation_p.W25S	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	180						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						GATGAAAGACCAGCTAATCTG	0.458000													4	117					0	0	0.000157383	0	0
ORC3	23595	broad.mit.edu	37	6	88315688	88315688	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:88315688C>A	ENST00000392844.3	+	5	424	c.376C>A	c.(376-378)Cag>Aag	p.Q126K	ORC3_ENST00000417380.2_Missense_Mutation_p.Q73K|ORC3_ENST00000546266.1_5'UTR|ORC3_ENST00000257789.4_Missense_Mutation_p.Q126K	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	126			Q -> R (in dbSNP:rs2307371).		cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						AGAGGCCCTTCAGAATAATGT	0.328000													7	210					0.000673444	0.0084606	0.000673444	1	0
LEPR	3953	broad.mit.edu	37	1	66075673	66075673	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:66075673C>G	ENST00000349533.6	+	13	1981	c.1796C>G	c.(1795-1797)cCa>cGa	p.P599R	LEPR_ENST00000371058.1_Missense_Mutation_p.P599R|LEPR_ENST00000371060.3_Missense_Mutation_p.P599R|LEPR_ENST00000371059.3_Missense_Mutation_p.P599R|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000344610.8_Missense_Mutation_p.P599R|LEPR_ENST00000462765.1_3'UTR	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	599	Fibronectin type-III 2.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GTCAGTCTCCCAGTTCCAGAC	0.403000													6	201					0	0	0.000157383	0	0
CRISP2	7180	broad.mit.edu	37	6	49663582	49663582	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:49663582C>G	ENST00000339139.4	-	9	807	c.571G>C	c.(571-573)Ggt>Cgt	p.G191R		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	191						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TCAGGGCAACCGGCACAAGGT	0.308000													4	72					0	0	8.12818e-05	0	0
CELSR3	1951	broad.mit.edu	37	3	48684205	48684205	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:48684205C>A	ENST00000544264.1	-	22	7581	c.7301G>T	c.(7300-7302)cGa>cTa	p.R2434L	CELSR3_ENST00000164024.4_Missense_Mutation_p.R2429L			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2429					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCTGGCACCTCGGCGTTCTGC	0.597000													4	46					0.000157383	0.00236471	0.000157383	1	0
PIAS3	10401	broad.mit.edu	37	1	145579312	145579312	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:145579312G>T	ENST00000393045.2	+	5	739	c.649G>T	c.(649-651)Ggg>Tgg	p.G217W	PIAS3_ENST00000369298.1_Missense_Mutation_p.G182W|PIAS3_ENST00000369299.3_Missense_Mutation_p.G208W	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	217	PINIT.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAAGGTCAATGGGAAACTGTG	0.453000													8	172					6.40141e-05	0.00104902	6.40141e-05	1	0
IDH2	3418	broad.mit.edu	37	15	90630742	90630742	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:90630742C>G	ENST00000330062.3	-	6	857	c.744G>C	c.(742-744)atG>atC	p.M248I	IDH2_ENST00000559482.1_Missense_Mutation_p.M139I|IDH2_ENST00000539790.1_Missense_Mutation_p.M118I|IDH2_ENST00000540499.2_Missense_Mutation_p.M196I	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	248					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			TCTTGGTGCTCATGTACAGCG	0.537000			M		GBM						OREG0023466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	144					0	0	3.59834e-05	0	0
FAM21A	387680	broad.mit.edu	37	10	51863866	51863866	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:51863866C>G	ENST00000351071.6	+	18	1818	c.1700C>G	c.(1699-1701)cCc>cGc	p.P567R	FAM21A_ENST00000399339.2_Missense_Mutation_p.P479R|FAM21A_ENST00000282633.5_Missense_Mutation_p.P567R|FAM21A_ENST00000314664.7_Missense_Mutation_p.P567R			Q641Q2	FA21A_HUMAN	family with sequence similarity 21, member A	567					retrograde transport, endosome to Golgi	early endosome membrane|WASH complex				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						GGCAAGCTCCCCACGTTGGTT	0.393000													4	122					0	0	0.00024832	0	0
WDR19	57728	broad.mit.edu	37	4	39219726	39219726	+	Splice_Site	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:39219726G>C	ENST00000399820.3	+	14	1633		c.e14+1		WDR19_ENST00000288634.7_Splice_Site|WDR19_ENST00000506503.1_3'UTR	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19						cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TGGTACAGATGTATGTATTGC	0.363000													5	247					0	0	0.000602214	0	0
EZH2	2146	broad.mit.edu	37	7	148506233	148506233	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:148506233C>T	ENST00000320356.2	-	19	2246	c.2125G>A	c.(2125-2127)Ggt>Agt	p.G709S	EZH2_ENST00000478654.1_Missense_Mutation_p.G653S|EZH2_ENST00000350995.2_Missense_Mutation_p.G665S|EZH2_ENST00000541220.1_Missense_Mutation_p.G653S|EZH2_ENST00000476773.1_Missense_Mutation_p.G653S|EZH2_ENST00000483967.1_Missense_Mutation_p.G695S|EZH2_ENST00000460911.1_Missense_Mutation_p.G704S	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	704	SET.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			CTGTGATCACCGTTAACCATC	0.448000			Mis		DLBCL								5	147					0	0	0.000602214	0	0
PSEN1	5663	broad.mit.edu	37	14	73640357	73640357	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:73640357G>T	ENST00000324501.5	+	5	694	c.422G>T	c.(421-423)aGt>aTt	p.S141I	PSEN1_ENST00000261970.3_Missense_Mutation_p.S141I|PSEN1_ENST00000394157.3_Missense_Mutation_p.S141I|PSEN1_ENST00000357710.4_Missense_Mutation_p.S137I|PSEN1_ENST00000557511.1_Missense_Mutation_p.S141I|PSEN1_ENST00000344094.3_Missense_Mutation_p.S141I|PSEN1_ENST00000394164.1_Missense_Mutation_p.S137I|PSEN1_ENST00000406768.1_Missense_Mutation_p.S49I	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	141					amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		ATCATGATCAGTGTCATTGTT	0.438000													6	135					0.000442599	0.00584094	0.000442599	1	0
POC1B	282809	broad.mit.edu	37	12	89853418	89853418	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:89853418G>C	ENST00000393179.4	-	8	1333	c.720C>G	c.(718-720)acC>acG	p.T240T	POC1B_ENST00000546740.1_Intron|POC1B_ENST00000313546.3_Silent_p.T370T|POC1B_ENST00000541909.1_3'UTR|POC1B_ENST00000378528.2_3'UTR|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000549035.1_Silent_p.T328T					POC1 centriolar protein B											endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						GACTTACTGTGGTAGAATCAA	0.323000													4	29					0	0	0.00024832	0	0
SLC9B2	133308	broad.mit.edu	37	4	103987516	103987516	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:103987516G>T	ENST00000394785.3	-	3	870	c.239C>A	c.(238-240)cCa>cAa	p.P80Q	SLC9B2_ENST00000503103.1_Missense_Mutation_p.P80Q|SLC9B2_ENST00000362026.3_Missense_Mutation_p.P80Q|SLC9B2_ENST00000339611.4_Missense_Mutation_p.P80Q|SLC9B2_ENST00000503230.1_Missense_Mutation_p.P80Q|SLC9B2_ENST00000505838.1_5'UTR	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	80					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity										TAAACCATGTGGAGGGCAAGC	0.368000													7	177					0.000442599	0.00584094	0.000442599	1	0
NPIPB5	100132247	broad.mit.edu	37	16	22545865	22545865	+	Missense_Mutation	SNP	G	G	C	rs147500263	by1000genomes	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:22545865G>C	ENST00000424340.1	+	7	1840	c.1561G>C	c.(1561-1563)Gcc>Ccc	p.A521P	NPIPB5_ENST00000517539.1_Missense_Mutation_p.A521P|NPIPB5_ENST00000415654.1_3'UTR	NM_001135865.1	NP_001129337.1			nuclear pore complex interacting protein family, member B5																		TCAGCTCACTGCCCTTCCACC	0.567000													5	375					0	0	8.12818e-05	0	0
ABHD6	57406	broad.mit.edu	37	3	58279391	58279391	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:58279391G>C	ENST00000478253.1	+	10	1414	c.913G>C	c.(913-915)Ggg>Cgg	p.G305R	ABHD6_ENST00000295962.4_Missense_Mutation_p.G305R			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	305						integral to membrane	acylglycerol lipase activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		GGAAAACTGTGGGCACTCAGT	0.512000													4	71					0	0	0.00024832	0	0
ZNF839	55778	broad.mit.edu	37	14	102802146	102802146	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:102802146C>G	ENST00000262236.5	+	5	1637	c.1282C>G	c.(1282-1284)Cag>Gag	p.Q428E	ZNF839_ENST00000442396.2_Missense_Mutation_p.Q544E|ZNF839_ENST00000558850.1_Missense_Mutation_p.Q428E|ZNF839_ENST00000559185.1_Missense_Mutation_p.Q428E	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN	zinc finger protein 839	428						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TCTGTGTTCCCAGGAGACCCT	0.403000													4	100					0	0	0.00024832	0	0
CYP11B1	1584	broad.mit.edu	37	8	143961094	143961094	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:143961094C>T	ENST00000292427.4	-	1	168	c.136G>A	c.(136-138)Ggc>Agc	p.G46S	CYP11B1_ENST00000517471.1_Missense_Mutation_p.G46S|CYP11B1_ENST00000377675.3_Missense_Mutation_p.G46S	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	46					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.G46S(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CACCTGTTGCCTGGACGCCGG	0.632000									Familial Hyperaldosteronism type I				7	83					0	0	0.000274275	0	0
TJP1	7082	broad.mit.edu	37	15	30053447	30053447	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:30053447C>G	ENST00000346128.6	-	8	1379	c.905G>C	c.(904-906)cGa>cCa	p.R302P	TJP1_ENST00000495972.2_Missense_Mutation_p.R302P|TJP1_ENST00000545208.2_Missense_Mutation_p.R302P|TJP1_ENST00000356107.6_Missense_Mutation_p.R302P|TJP1_ENST00000400011.2_Missense_Mutation_p.R306P	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	302					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		ATCGTGTGATCGACCAGAATG	0.483000													4	102					0	0	0.00024832	0	0
ATP2A2	488	broad.mit.edu	37	12	110780051	110780051	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:110780051G>T	ENST00000395494.2	+	14	2598	c.2035G>T	c.(2035-2037)Gat>Tat	p.D679Y	ATP2A2_ENST00000308664.6_Missense_Mutation_p.D706Y|ATP2A2_ENST00000539276.2_Missense_Mutation_p.D706Y			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	706					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGGCGTGAACGATGCTCCTGC	0.547000													6	97					0.000442599	0.00584094	0.000442599	1	0
GABRG2	2566	broad.mit.edu	37	5	161576278	161576278	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:161576278C>A	ENST00000356592.3	+	8	1547	c.1087C>A	c.(1087-1089)Cgg>Agg	p.R363R	GABRG2_ENST00000361925.4_Silent_p.R363R|GABRG2_ENST00000414552.2_Silent_p.R403R|GABRG2_ENST00000393933.4_Silent_p.R268R	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	363					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		TGTCAGCAACCGGAAACCAAG	0.378000													8	77					9.31168e-06	0.000163173	0.000151284	1	0
PSG7	5676	broad.mit.edu	37	19	43428931	43428931	+	RNA	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:43428931G>A	ENST00000406070.2	-	0	1385					NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				ttccatgggagaagatggaat	0.408000													6	107					0	0	0.000442599	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803675	142803675	+	RNA	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:142803675T>C	ENST00000423385.1	-	0	1290																											gttctatgcatttatcatctc	0.303000													9	84					0	0	0.000673444	0	0
DNAH2	146754	broad.mit.edu	37	17	7644256	7644256	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:7644256C>A	ENST00000572933.1	+	11	3095	c.1635C>A	c.(1633-1635)tcC>tcA	p.S545S	DNAH2_ENST00000389173.2_Silent_p.S545S|DNAH2_ENST00000082259.3_Silent_p.S627S|DNAH2_ENST00000570791.1_Silent_p.S627S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	545	Stem (By similarity).				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)				CCCAGTATTCCGGAAAGGCGC	0.582000													6	109					0.000157383	0.00236471	0.000157383	1	0
IL6ST	3572	broad.mit.edu	37	5	55252002	55252002	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:55252002C>A	ENST00000381298.2	-	10	1430	c.1118G>T	c.(1117-1119)tGg>tTg	p.W373L	IL6ST_ENST00000381294.3_Missense_Mutation_p.W373L|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000502326.3_Missense_Mutation_p.W373L|IL6ST_ENST00000336909.5_Missense_Mutation_p.W373L|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000522633.2_3'UTR	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	373	Fibronectin type-III 3.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				ATGTGATTTCCATCTTGTGAG	0.308000			O		hepatocellular ca								8	189					7.48243e-07	1.3784e-05	0.000442599	1	0
TNFRSF25	8718	broad.mit.edu	37	1	6525501	6525501	+	Splice_Site	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:6525501C>G	ENST00000377782.3	-	2	226	c.160_splice	c.e2+1	p.A53_splice	TNFRSF25_ENST00000348333.3_Splice_Site_p.A53_splice|TNFRSF25_ENST00000351959.5_Splice_Site_p.A53_splice|TNFRSF25_ENST00000351748.3_Splice_Site_p.A53_splice|TNFRSF25_ENST00000461703.2_5'UTR|TNFRSF25_ENST00000356876.3_Splice_Site_p.A53_splice	NM_148965.1	NP_683866.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	53					apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		GCCACTTACCCGCTGGGCAGC	0.677000													5	81					0	0	0.000274275	0	0
NR4A1	3164	broad.mit.edu	37	12	52448449	52448449	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:52448449C>T	ENST00000545748.1	+	3	1494	c.499C>T	c.(499-501)Ccc>Tcc	p.P167S	NR4A1_ENST00000394824.2_Missense_Mutation_p.P113S|NR4A1_ENST00000548232.1_Missense_Mutation_p.P113S|NR4A1_ENST00000394825.1_Missense_Mutation_p.P113S|NR4A1_ENST00000360284.3_Missense_Mutation_p.P126S|NR4A1_ENST00000243050.1_Missense_Mutation_p.P113S|NR4A1_ENST00000550082.1_Missense_Mutation_p.P126S|NR4A1_ENST00000547206.1_3'UTR			P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	113					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CGGCTGCTACCCCGGCCCCCT	0.672000													6	85					0	0	3.59834e-05	0	0
EME2	197342	broad.mit.edu	37	16	1823473	1823473	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:1823473C>T	ENST00000307394.7	+	1	245	c.245C>T	c.(244-246)aCa>aTa	p.T82I	EME2_ENST00000568449.1_Missense_Mutation_p.T82I			A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	82					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						TGCGTGGACACAGGTGCGGCG	0.751000								Direct reversal of damage;Homologous recombination					4	15					0	0	0.000157383	0	0
HIF1A	3091	broad.mit.edu	37	14	62199183	62199183	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:62199183C>A	ENST00000394997.1	+	7	1089	c.824C>A	c.(823-825)tCa>tAa	p.S275*	HIF1A_ENST00000337138.4_Nonsense_Mutation_p.S274*|HIF1A_ENST00000557538.1_Nonsense_Mutation_p.S215*|HIF1A_ENST00000323441.6_Nonsense_Mutation_p.S274*|HIF1A_ENST00000539097.1_Nonsense_Mutation_p.S298*|HIF1A-AS2_ENST00000554254.1_lincRNA			Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	274	Interaction with TSGA10 (By similarity).|PAS 2.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		TTAGGCCGCTCAATTTATGAA	0.323000													10	253					7.07596e-05	0.00115765	0.00074312	1	0
CDK13	8621	broad.mit.edu	37	7	40039008	40039008	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:40039008G>C	ENST00000181839.4	+	4	2696	c.2091G>C	c.(2089-2091)tgG>tgC	p.W697C	CDK13_ENST00000340829.5_Missense_Mutation_p.W697C|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	697					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						ATATTGACTGGGGAAAACGCT	0.348000													4	120					0	0	8.12818e-05	0	0
SYNCRIP	10492	broad.mit.edu	37	6	86350217	86350217	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:86350217C>G	ENST00000355238.6	-	3	420	c.214G>C	c.(214-216)Ggt>Cgt	p.G72R	SYNCRIP_ENST00000369622.3_Missense_Mutation_p.G72R	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	72					CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		GCCAATGCACCGTCTTCATTG	0.303000													5	147					0	0	0.000602214	0	0
PRDM5	11107	broad.mit.edu	37	4	121631501	121631501	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:121631501T>C	ENST00000264808.3	-	15	1931	c.1691A>G	c.(1690-1692)aAg>aGg	p.K564R	PRDM5_ENST00000506065.1_5'UTR|PRDM5_ENST00000515109.1_3'UTR|PRDM5_ENST00000428209.2_Missense_Mutation_p.K533R	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	564					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTGCGTCCTCTTGTGCTCATC	0.488000													5	34					0	0	0.000602214	0	0
LMBR1L	55716	broad.mit.edu	37	12	49500748	49500748	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:49500748G>T	ENST00000267102.8	-	2	495	c.153C>A	c.(151-153)acC>acA	p.T51T	LMBR1L_ENST00000553204.1_5'UTR|LMBR1L_ENST00000547382.1_Silent_p.T51T	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	51	LCN1-binding.				endocytosis	integral to membrane|plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AAGTACCTGTGGTGAACTCAG	0.522000													7	139					3.09899e-07	5.78755e-06	0.000274275	1	0
PTK2B	2185	broad.mit.edu	37	8	27287612	27287612	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:27287612G>C	ENST00000397501.1	+	11	1362	c.554G>C	c.(553-555)cGg>cCg	p.R185P	PTK2B_ENST00000517339.1_Missense_Mutation_p.R185P|PTK2B_ENST00000544172.1_Missense_Mutation_p.R185P|PTK2B_ENST00000346049.5_Missense_Mutation_p.R185P|PTK2B_ENST00000338238.4_Missense_Mutation_p.R185P|PTK2B_ENST00000420218.2_Missense_Mutation_p.R185P	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	185	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	p.R185L(2)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TTCTCCAGGCGGTTCTTCAAG	0.567000													6	198					0	0	0.000442599	0	0
ZNF248	57209	broad.mit.edu	37	10	38121758	38121758	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:38121758G>C	ENST00000395867.3	-	6	1075	c.525C>G	c.(523-525)ctC>ctG	p.L175L	ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000357328.4_Silent_p.L175L|ZNF248_ENST00000374648.3_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TAATATCAAGGAGCAATTTCT	0.328000													4	119					0	0	0.00024832	0	0
TIE1	7075	broad.mit.edu	37	1	43785130	43785130	+	Splice_Site	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:43785130G>C	ENST00000372476.3	+	19	3116	c.3036_splice	c.e19-1	p.G1013_splice	TIE1_ENST00000433781.2_Splice_Site_p.G658_splice|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	1013	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCTCTCCTAGGGGCGTCTCCC	0.582000													4	111					0	0	3.59834e-05	0	0
AMBRA1	55626	broad.mit.edu	37	11	46563784	46563784	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:46563784C>G	ENST00000458649.2	-	7	2201	c.1783G>C	c.(1783-1785)Gag>Cag	p.E595Q	AMBRA1_ENST00000528950.1_Missense_Mutation_p.E595Q|AMBRA1_ENST00000534300.1_Missense_Mutation_p.E595Q|AMBRA1_ENST00000533727.1_Missense_Mutation_p.E505Q|AMBRA1_ENST00000314845.3_Missense_Mutation_p.E505Q|AMBRA1_ENST00000298834.3_Missense_Mutation_p.E595Q|AMBRA1_ENST00000426438.1_Missense_Mutation_p.E595Q			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	595	Ser-rich.				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GAACTAGCCTCGCCAGAGGAG	0.587000													4	48					0	0	0.00024832	0	0
AMER1	139285	broad.mit.edu	37	X	63413106	63413106	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:63413106G>C	ENST00000330258.3	-	2	333	c.61C>G	c.(61-63)Cgt>Ggt	p.R21G	AMER1_ENST00000374869.3_Missense_Mutation_p.R21G|AMER1_ENST00000403336.1_Missense_Mutation_p.R21G	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)|p.R21S(2)									GTTTGTTCACGGGTACTCCCA	0.552000													4	150					0	0	0.00024832	0	0
EMR1	2015	broad.mit.edu	37	19	6913757	6913757	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:6913757C>A	ENST00000312053.4	+	11	1253	c.1216C>A	c.(1216-1218)Ctg>Atg	p.L406M	EMR1_ENST00000450315.3_Missense_Mutation_p.L229M|EMR1_ENST00000381404.4_Missense_Mutation_p.L354M|EMR1_ENST00000381407.5_Missense_Mutation_p.L265M|EMR1_ENST00000250572.8_Missense_Mutation_p.L406M	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	406	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CACAGTCTTCCTGGAGAGTGT	0.478000													7	117					0.000274275	0.0038898	0.000274275	1	0
GABARAPL2	11345	broad.mit.edu	37	16	75601934	75601934	+	Splice_Site	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:75601934G>C	ENST00000037243.2	+	3	226		c.e3-1		RP11-77K12.8_ENST00000564489.1_RNA|GABARAPL2_ENST00000568455.1_Splice_Site|GABARAPL2_ENST00000563744.1_Intron|GABARAPL2_ENST00000565057.1_Splice_Site	NM_007285.6	NP_009216.1	P60520	GBRL2_HUMAN	GABA(A) receptor-associated protein-like 2						autophagy|intra-Golgi vesicle-mediated transport|positive regulation of ATPase activity|protein transport	autophagic vacuole membrane|cytosol|Golgi membrane|membrane fraction	ATPase binding|beta-tubulin binding|GABA receptor binding|microtubule binding|SNARE binding			lung(1)|ovary(1)	2						TACTTTCCCAGGTGATTGTGG	0.493000													4	136					0	0	0.000157383	0	0
SETX	23064	broad.mit.edu	37	9	135206511	135206511	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:135206511C>G	ENST00000372169.2	-	9	1208	c.1026G>C	c.(1024-1026)ccG>ccC	p.P342P	SETX_ENST00000224140.5_Silent_p.P342P|SETX_ENST00000393220.1_Silent_p.P342P			Q7Z333	SETX_HUMAN	senataxin	342					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AATAGGACTCCGGTTCTAACT	0.343000													4	130					0	0	0.00024832	0	0
GTF3C2	2976	broad.mit.edu	37	2	27565843	27565843	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:27565843G>A	ENST00000359541.2	-	3	848	c.419C>T	c.(418-420)cCt>cTt	p.P140L	GTF3C2_ENST00000264720.3_Missense_Mutation_p.P140L			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	140						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGTTTCTTAGGCATGGGGGT	0.537000													15	122					0	0	0.00074312	0	0
FSD2	123722	broad.mit.edu	37	15	83451711	83451711	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:83451711G>T	ENST00000334574.8	-	4	983	c.802C>A	c.(802-804)Caa>Aaa	p.Q268K	FSD2_ENST00000541889.1_Missense_Mutation_p.Q268K			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	268										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TCATATTTTTGAGCAAGTGTT	0.388000													11	444					3.45872e-05	0.000585782	0.000422831	1	0
SYT11	23208	broad.mit.edu	37	1	155851143	155851143	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:155851143C>A	ENST00000368324.4	+	4	1393	c.1140C>A	c.(1138-1140)ctC>ctA	p.L380L	SYT11_ENST00000539162.1_Silent_p.L73L	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	380	C2 2.					cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			TCGAGTTCCTCGTTATCGACT	0.522000													7	293					8.12818e-05	0.00129777	8.12818e-05	1	0
SPATS2	65244	broad.mit.edu	37	12	49916587	49916587	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:49916587C>A	ENST00000553127.1	+	13	1575	c.1062C>A	c.(1060-1062)ttC>ttA	p.F354L	SPATS2_ENST00000552918.1_Missense_Mutation_p.F354L|SPATS2_ENST00000321898.6_Missense_Mutation_p.F354L			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	354						cytoplasm				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						TAGCCCGGTTCACCTGTGATG	0.453000													6	77					0.000274275	0.0038898	0.000274275	1	0
TCEB2	6923	broad.mit.edu	37	16	2827033	2827033	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:2827033G>T	ENST00000409477.1	-	1	163	c.84C>A	c.(82-84)ggC>ggA	p.G28G	TCEB2_ENST00000409906.4_Silent_p.G33G|TCEB2_ENST00000262306.7_Silent_p.G33G|TCEB2_ENST00000572954.1_Silent_p.G33G			Q15370	ELOB_HUMAN	transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B)	33	Ubiquitin-like.				positive regulation of viral transcription|protein complex assembly|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|nucleoplasm	protein binding			endometrium(2)|prostate(1)	3						GCTTGAGGATGCCCTCGACGA	0.687000													4	29					3.59834e-05	0.000600898	3.59834e-05	1	0
SAMHD1	25939	broad.mit.edu	37	20	35559248	35559248	+	Translation_Start_Site	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:35559248G>A	ENST00000373694.5	-	0	667				SAMHD1_ENST00000262878.4_Silent_p.H180H			Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1						defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				CACCCAGTGCGTGAACTAGAC	0.448000													7	104					0	0	8.12818e-05	0	0
PCNXL2	80003	broad.mit.edu	37	1	233353800	233353800	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:233353800T>C	ENST00000258229.8	-	11	2869	c.2635A>G	c.(2635-2637)Agc>Ggc	p.S879G	PCNXL2_ENST00000430153.1_Missense_Mutation_p.S178G|PCNXL2_ENST00000488780.2_Missense_Mutation_p.S12G	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	879						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TACTGGCAGCTGGCCATGACG	0.473000													3	25					0	0	6.4e-05	0	0
BROX	148362	broad.mit.edu	37	1	222903007	222903007	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:222903007G>C	ENST00000340934.5	+	10	1208	c.802G>C	c.(802-804)Ggt>Cgt	p.G268R	BROX_ENST00000539697.1_Missense_Mutation_p.G236R|BROX_ENST00000537020.1_Missense_Mutation_p.G268R	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN	BRO1 domain and CAAX motif containing	268	BRO1.					membrane				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						TGATAAATGCGGTGAAGCAAT	0.358000													9	375					0	0	0.00010058	0	0
CNOT4	4850	broad.mit.edu	37	7	135099147	135099147	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:135099147C>G	ENST00000428680.2	-	5	773	c.494G>C	c.(493-495)cGg>cCg	p.R165P	CNOT4_ENST00000451834.1_Missense_Mutation_p.R165P|CNOT4_ENST00000315544.5_Missense_Mutation_p.R165P|CNOT4_ENST00000541284.1_Missense_Mutation_p.R165P|CNOT4_ENST00000423368.2_Missense_Mutation_p.R165P|CNOT4_ENST00000414802.1_Missense_Mutation_p.R165P|CNOT4_ENST00000356162.4_Missense_Mutation_p.R165P|CNOT4_ENST00000361528.4_Missense_Mutation_p.R165P	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	165	RRM.				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GTCTTCTGACCGGATATAGGT	0.353000													5	135					0	0	0.000602214	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22863539	22863539	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:22863539G>T	ENST00000251822.6	+	4	900	c.363G>T	c.(361-363)atG>atT	p.M121I	RHOBTB2_ENST00000522948.1_Missense_Mutation_p.M128I|RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000523918.1_3'UTR|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.M143I	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	121	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TCAAGACCATGTGGTACCCAG	0.562000													7	240					0.000274275	0.0038898	0.000274275	1	0
FCGBP	8857	broad.mit.edu	37	19	40384061	40384061	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:40384061G>C	ENST00000221347.6	-	21	9556	c.9549C>G	c.(9547-9549)ccC>ccG	p.P3183P		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3183	TIL 7.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCTCCACACAGGGGCCCTCAC	0.652000													4	104					0	0	0.00024832	0	0
MMP12	4321	broad.mit.edu	37	11	102733867	102733867	+	RNA	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:102733867G>T	ENST00000532855.1	-	0	1472							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TCAGTGTTTTGGTGATACGTT	0.299000													8	155					2.80697e-09	5.44685e-08	6.40141e-05	1	0
MAP1B	4131	broad.mit.edu	37	5	71501044	71501044	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:71501044C>G	ENST00000296755.7	+	7	7683	c.7385C>G	c.(7384-7386)cCt>cGt	p.P2462R		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2462						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GAATCCTTCCCTGCATGCAAG	0.418000													4	114					0	0	3.59834e-05	0	0
RPS7	6201	broad.mit.edu	37	2	3628456	3628456	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:3628456C>A	ENST00000304921.5	+	7	733	c.569C>A	c.(568-570)cCa>cAa	p.P190Q	RPS7_ENST00000403564.1_Missense_Mutation_p.P190Q|RPS7_ENST00000406376.1_Missense_Mutation_p.P190Q	NM_001011.3	NP_001002.1	P62081	RS7_HUMAN	ribosomal protein S7	190					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|lung(2)|urinary_tract(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)		TTTGAATTCCCAGAGTTTCAA	0.313000													6	90					0.000442599	0.00584094	0.000442599	1	0
ZNF675	171392	broad.mit.edu	37	19	23836434	23836434	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:23836434T>C	ENST00000359788.4	-	4	1469	c.1301A>G	c.(1300-1302)aAc>aGc	p.N434S	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	434					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TGAGGATCGGTTAAAAGCTTT	0.378000													4	139					0	0	0.000157383	0	0
MDM2	4193	broad.mit.edu	37	12	69233375	69233375	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:69233375C>A	ENST00000462284.1	+	11	1542	c.1240C>A	c.(1240-1242)Caa>Aaa	p.Q414K	MDM2_ENST00000348801.2_Missense_Mutation_p.Q182K|MDM2_ENST00000545204.1_Silent_p.A48A|MDM2_ENST00000356290.4_Missense_Mutation_p.Q238K|MDM2_ENST00000540827.1_Missense_Mutation_p.Q213K|MDM2_ENST00000393410.1_Missense_Mutation_p.Q160K|MDM2_ENST00000393412.3_Missense_Mutation_p.Q135K|MDM2_ENST00000393413.3_Missense_Mutation_p.Q135K|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000360430.2_Missense_Mutation_p.Q213K|MDM2_ENST00000299252.4_Missense_Mutation_p.Q238K|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000258148.7_Missense_Mutation_p.Q359K|MDM2_ENST00000258149.5_Missense_Mutation_p.Q353K|MDM2_ENST00000350057.5_Missense_Mutation_p.Q383K|MDM2_ENST00000428863.2_Missense_Mutation_p.Q187K	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	408	Necessary for interaction with USP2.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TTATAGCAGCCAAGAAGATGT	0.373000			A		"""sarcoma, glioma, colorectal, other"""								6	104					1.12685e-05	0.000195397	0.000274275	1	0
SIK3	23387	broad.mit.edu	37	11	116732036	116732036	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:116732036G>C	ENST00000375300.1	-	18	2240	c.2235C>G	c.(2233-2235)ccC>ccG	p.P745P	SIK3_ENST00000434315.2_Silent_p.P586P|SIK3_ENST00000488337.1_Intron|SIK3_ENST00000446921.2_Silent_p.P745P|SIK3_ENST00000375288.1_Intron|SIK3_ENST00000292055.4_Silent_p.P687P|SIK3_ENST00000542607.1_Silent_p.P687P			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	687	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GACTATTACTGGGCTGCCTGA	0.478000											OREG0003492	type=REGULATORY REGION|Gene=BC035583|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	6	355					0	0	0.000673444	0	0
FAM120B	84498	broad.mit.edu	37	6	170657411	170657411	+	Splice_Site	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:170657411G>C	ENST00000476287.1	+	5	2298	c.2190_splice	c.e5+1	p.Q730_splice	FAM120B_ENST00000540480.1_Splice_Site_p.Q742_splice|FAM120B_ENST00000252510.9_Splice_Site_p.Q62_splice|FAM120B_ENST00000537664.1_Splice_Site_p.Q753_splice	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	730					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TCTTTGTCCAGGTAATGTCCA	0.502000													4	55					0	0	0.00024832	0	0
SERPINA13P	388007	broad.mit.edu	37	14	95109995	95109995	+	RNA	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:95109995C>G	ENST00000469935.1	+	0	1032					NR_015340.1																						TTCATCTTCCCCAACAGGGGC	0.582000													3	37					0	0	0.00024832	0	0
KIF20A	10112	broad.mit.edu	37	5	137521267	137521267	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:137521267C>A	ENST00000394894.3	+	16	2219	c.1993C>A	c.(1993-1995)Cat>Aat	p.H665N	KIF20A_ENST00000508792.1_Missense_Mutation_p.H647N	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	665					cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GTCAGTGGCCCATCAGCAATC	0.512000													8	114					0.000274275	0.0038898	0.000274275	1	0
ASTN1	460	broad.mit.edu	37	1	176913129	176913129	+	Missense_Mutation	SNP	C	C	G	rs12565542		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:176913129C>G	ENST00000367654.2	-	14	2312	c.2299G>C	c.(2299-2301)Gac>Cac	p.D767H	ASTN1_ENST00000367657.3_Missense_Mutation_p.D759H|ASTN1_ENST00000361833.2_Missense_Mutation_p.D759H|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.D759H			O14525	ASTN1_HUMAN	astrotactin 1	767					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGTTGCTGGTCTAAACCACGA	0.488000													4	98					0	0	0.00024832	0	0
CXADRP3	440224	broad.mit.edu	37	18	14479225	14479225	+	RNA	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:14479225C>G	ENST00000581457.1	-	0	683					NR_024076.1																						TGGTGAAATCCGCGACTCCGC	0.572000													4	21					0	0	0.00024832	0	0
C19orf45	374877	broad.mit.edu	37	19	7569201	7569201	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:7569201C>T	ENST00000361664.2	+	4	827	c.686C>T	c.(685-687)tCc>tTc	p.S229F		NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	229										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						CCACAGGCCTCCTCCGGAGTG	0.582000													8	84					0	0	0.000151284	0	0
HUWE1	10075	broad.mit.edu	37	X	53652212	53652212	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:53652212C>G	ENST00000342160.3	-	17	1954	c.1497G>C	c.(1495-1497)caG>caC	p.Q499H	HUWE1_ENST00000262854.6_Missense_Mutation_p.Q499H|HUWE1_ENST00000218328.8_Missense_Mutation_p.Q499H			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	499					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTGGAATACACTGGACTCCTG	0.393000													4	242					0	0	0.000157383	0	0
SLC38A2	54407	broad.mit.edu	37	12	46761107	46761107	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:46761107C>A	ENST00000256689.5	-	5	775	c.331G>T	c.(331-333)Gtg>Ttg	p.V111L	SLC38A2_ENST00000547252.1_5'UTR	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	111					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		AATATTGACACAAATGTCAAG	0.328000													7	228					0.000274275	0.0038898	0.000274275	1	0
UBR5	51366	broad.mit.edu	37	8	103316393	103316393	+	Silent	SNP	C	C	A	rs145454925		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:103316393C>A	ENST00000520539.1	-	22	3438	c.2832G>T	c.(2830-2832)gcG>gcT	p.A944A	UBR5_ENST00000521922.1_Silent_p.A938A|UBR5_ENST00000220959.4_Silent_p.A944A	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	944	Poly-Glu.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	p.A944A(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CAGAACGCTCCGCTTCTGAAA	0.343000													5	112					8.12818e-05	0.00129777	8.12818e-05	1	0
N4BP2	55728	broad.mit.edu	37	4	40104813	40104813	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:40104813G>T	ENST00000261435.6	+	4	1764	c.1348G>T	c.(1348-1350)Gga>Tga	p.G450*		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	450						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AGGTCTTCCGGGATCTGGAAA	0.353000													7	171					5.16669e-11	1.01313e-09	6.40141e-05	1	0
IGHV3-7	28452	broad.mit.edu	37	14	106518851	106518851	+	RNA	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:106518851C>T	ENST00000390598.2	-	0	81																											GCCCCAATTCCATGGTGAGTC	0.498000													24	178					0	0	0.000720815	0	0
CSF2RA	1438	broad.mit.edu	37	X	1422828	1422828	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:1422828G>C	ENST00000381524.3	+	11	1145	c.959G>C	c.(958-960)gGg>gCg	p.G320A	CSF2RA_ENST00000361536.3_Intron|CSF2RA_ENST00000381500.1_Intron|CSF2RA_ENST00000417535.2_Missense_Mutation_p.G354A|CSF2RA_ENST00000381509.3_Missense_Mutation_p.G320A|CSF2RA_ENST00000501036.2_Missense_Mutation_p.G187A|CSF2RA_ENST00000432318.2_Missense_Mutation_p.G320A|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381529.3_Missense_Mutation_p.G320A|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000355432.3_Intron			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	320						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		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)	TCTGACGACGGGAACCTCGGC	0.488000													6	287					0	0	0.000157383	0	0
MAD2L1	4085	broad.mit.edu	37	4	120981381	120981381	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:120981381C>A	ENST00000296509.5	-	5	849	c.510G>T	c.(508-510)tcG>tcT	p.S170S		NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)	170	HORMA.				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						ACTGTGGTCCCGACTCTTCCC	0.368000													5	88					0.000157383	0.00236471	0.000157383	1	0
TJP3	27134	broad.mit.edu	37	19	3738585	3738585	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:3738585G>A	ENST00000541714.2	+	12	1779	c.1317G>A	c.(1315-1317)cgG>cgA	p.R439R	TJP3_ENST00000382008.3_Silent_p.R453R|TJP3_ENST00000589378.1_Silent_p.R448R|TJP3_ENST00000587686.1_Silent_p.R458R|TJP3_ENST00000539908.2_Silent_p.R403R|TJP3_ENST00000262968.9_Silent_p.R472R	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	453	PDZ 3.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTGACACGGGAGGAGGCAG	0.577000													15	127					0	0	0.000375601	0	0
SKIV2L	6499	broad.mit.edu	37	6	31929831	31929831	+	Splice_Site	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:31929831G>C	ENST00000375394.2	+	10	1177	c.1064_splice	c.e10+1	p.R355_splice	SKIV2L_ENST00000544581.1_Splice_Site_p.R162_splice	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	355	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CACATGACACGGTATGAGTTC	0.512000													4	258					0	0	8.12818e-05	0	0
FBXO11	80204	broad.mit.edu	37	2	48036847	48036847	+	Splice_Site	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:48036847C>G	ENST00000403359.3	-	20	2411		c.e20-1		FBXO11_ENST00000434523.2_Splice_Site|FBXO11_ENST00000402508.1_Splice_Site|FBXO11_ENST00000316377.4_Splice_Site	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11						ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATTTCAATACCTGAAGTAAAA	0.328000			"""Mis, F, D"""		DLBCL								3	43					0	0	6.4e-05	0	0
LYST	1130	broad.mit.edu	37	1	235929509	235929509	+	Silent	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:235929509T>C	ENST00000389794.3	-	21	6165	c.5991A>G	c.(5989-5991)gcA>gcG	p.A1997A	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Silent_p.A1997A			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1997					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CAAGGACTTCTGCTATAATTT	0.363000													25	242					0	0	0.000586117	0	0
GSTP1	2950	broad.mit.edu	37	11	67352198	67352198	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:67352198C>A	ENST00000398606.3	+	4	436	c.187C>A	c.(187-189)Ctg>Atg	p.L63M	GSTP1_ENST00000398603.1_Missense_Mutation_p.L63M|GSTP1_ENST00000498765.1_3'UTR	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN	glutathione S-transferase pi 1	63	GST N-terminal.				anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding			central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Ethacrynic acid(DB00903)|Glutathione(DB00143)	AGACCTCACCCTGTACCAGTC	0.637000													6	80					0.000157383	0.00236471	0.000157383	1	0
HDAC8	55869	broad.mit.edu	37	X	71681864	71681864	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:71681864G>T	ENST00000373573.3	-	9	1336	c.995C>A	c.(994-996)cCa>cAa	p.P332Q	HDAC8_ENST00000373589.4_Missense_Mutation_p.P241Q|HDAC8_ENST00000429103.2_Missense_Mutation_p.P137Q|HDAC8_ENST00000373583.1_Intron	NM_018486.2	NP_060956.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	332					chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	CTCATGATCTGGGATCTCAGA	0.478000													5	48					0.000274275	0.0038898	0.000274275	1	0
TRHDE	29953	broad.mit.edu	37	12	72771817	72771817	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:72771817G>C	ENST00000261180.4	+	3	1192	c.1096G>C	c.(1096-1098)Ggg>Cgg	p.G366R		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	366					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AAGAGGATCCGGGGACTATGC	0.328000													4	97					0	0	0.00024832	0	0
ANKH	56172	broad.mit.edu	37	5	14751235	14751235	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:14751235C>G	ENST00000284268.6	-	5	960	c.630G>C	c.(628-630)ctG>ctC	p.L210L	ANKH_ENST00000503939.1_5'UTR|ANKH_ENST00000535119.1_Silent_p.L12L	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	210					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TGTAGTAGCCCAGGCACAGGG	0.572000													4	75					0	0	0.000274275	0	0
CCDC13	152206	broad.mit.edu	37	3	42799644	42799644	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:42799644G>T	ENST00000310232.6	-	2	277	c.194C>A	c.(193-195)cCa>cAa	p.P65Q	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	65										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TTTCGAGTTTGGCTCCCCTGC	0.498000													7	106					0.000274275	0.0038898	0.000274275	1	0
SLC23A2	9962	broad.mit.edu	37	20	4913120	4913120	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:4913120G>C	ENST00000379333.1	-	3	481	c.89C>G	c.(88-90)cCa>cGa	p.P30R	SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Missense_Mutation_p.P30R|SLC23A2_ENST00000338244.1_Missense_Mutation_p.P30R	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	30				P -> R (in Ref. 4; AAD11783).	L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GAAGAAAGCTGGGTGCTTTGC	0.403000													4	123					0	0	3.59834e-05	0	0
FOCAD	54914	broad.mit.edu	37	9	20990196	20990196	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:20990196C>G	ENST00000380249.1	+	44	5443	c.5079C>G	c.(5077-5079)ctC>ctG	p.L1693L	FOCAD_ENST00000605086.1_Silent_p.L1129L|FOCAD_ENST00000338382.6_Silent_p.L1693L	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	1693						integral to membrane	binding										CTCTCCTCCTCGGCCTCAGTG	0.547000													4	51					0	0	0.00024832	0	0
KANSL1	284058	broad.mit.edu	37	17	44117171	44117171	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:44117171G>T	ENST00000262419.6	-	8	2570	c.2100C>A	c.(2098-2100)ccC>ccA	p.P700P	KANSL1_ENST00000572904.1_Silent_p.P700P|KANSL1_ENST00000574590.1_Silent_p.P700P|KANSL1_ENST00000432791.1_Silent_p.P700P|KANSL1_ENST00000393476.3_Silent_p.P57P|KANSL1_ENST00000575318.1_Silent_p.P700P	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	700						MLL1 complex	protein binding										ATAACTTTTTGGGAGGTTTGA	0.468000													7	150					0.000442599	0.00584094	0.000442599	1	0
ZNF346	23567	broad.mit.edu	37	5	176491537	176491537	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:176491537C>G	ENST00000503039.1	+	8	901	c.897C>G	c.(895-897)tcC>tcG	p.S299S	ZNF346_ENST00000503425.1_Silent_p.S242S|ZNF346_ENST00000358149.3_Silent_p.S274S|ZNF346_ENST00000511834.1_Silent_p.S290S|ZNF346_ENST00000512315.1_Silent_p.S98S|ZNF346_ENST00000261948.4_Silent_p.S299S|ZNF346_ENST00000506693.1_Silent_p.S176S			Q9UL40	ZN346_HUMAN	zinc finger protein 346	274						cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	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)			TGGCATCATCCCTGGGCCAGA	0.502000													4	107					0	0	0.000157383	0	0
SNAP29	9342	broad.mit.edu	37	22	21235396	21235396	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:21235396C>A	ENST00000215730.6	+	3	622	c.494C>A	c.(493-495)cCa>cAa	p.P165Q		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	165					cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			GCCAGCCACCCAAACCTTAGA	0.428000													5	50					0.000157383	0.00236471	0.000157383	1	0
UNC5C	8633	broad.mit.edu	37	4	96137343	96137343	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:96137343G>C	ENST00000453304.1	-	10	2013	c.1665C>G	c.(1663-1665)ccC>ccG	p.P555P	UNC5C_ENST00000506749.1_Silent_p.P574P	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	555	ZU5.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGGCCCCAGCGGGAATCAGCA	0.443000													4	27					0	0	3.59834e-05	0	0
TAF7	6879	broad.mit.edu	37	5	140699074	140699074	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:140699074G>C	ENST00000313368.5	-	1	1256	c.538C>G	c.(538-540)Cgg>Ggg	p.R180G		NM_005642.2	NP_005633.2	Q15545	TAF7_HUMAN	TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa	180					negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTCCCACCGAGTACTAACA	0.438000													5	196					0	0	0.000602214	0	0
CFB	629	broad.mit.edu	37	6	31910855	31910855	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:31910855C>G	ENST00000556679.1	+	7	935	c.880C>G	c.(880-882)Cag>Gag	p.Q294E	C2_ENST00000442278.2_Missense_Mutation_p.Q315E|C2_ENST00000469372.1_Missense_Mutation_p.Q201E|CFB_ENST00000477310.1_Intron|C2_ENST00000299367.5_Missense_Mutation_p.Q447E|CFB_ENST00000456570.1_Missense_Mutation_p.Q294E|C2_ENST00000452323.2_Missense_Mutation_p.Q233E			P00751	CFAB_HUMAN	complement factor B	463	VWFA.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GGCTCTGCACCAGGTCTTTGA	0.567000													6	365					0	0	0.000442599	0	0
LRRC28	123355	broad.mit.edu	37	15	99828024	99828024	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:99828024G>T	ENST00000301981.3	+	5	493	c.253G>T	c.(253-255)Ggg>Tgg	p.G85W	LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000559399.1_3'UTR|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000422500.2_Missense_Mutation_p.G85W|LRRC28_ENST00000442993.2_Missense_Mutation_p.G85W|LRRC28_ENST00000447360.2_Missense_Mutation_p.G85W	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	85										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			TGAAGCCATTGGGTCTCTTGT	0.348000													7	184					4.68919e-08	8.97658e-07	0.000673444	1	0
ANKRD34A	284615	broad.mit.edu	37	1	145474058	145474058	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:145474058A>G	ENST00000323397.4	+	4	2023	c.730A>G	c.(730-732)Agg>Ggg	p.R244G		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	244	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACCACTCAAAAGGCTCAACTC	0.612000													4	146					0	0	0.00024832	0	0
KLHL15	80311	broad.mit.edu	37	X	24006591	24006591	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:24006591C>T	ENST00000328046.8	-	4	1517	c.1262G>A	c.(1261-1263)gGg>gAg	p.G421E		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	421										autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						GAGCACTGTCCCCTCATGTCC	0.428000													24	157					0	0	0.000295444	0	0
SSTR1	6751	broad.mit.edu	37	14	38679025	38679025	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:38679025G>A	ENST00000267377.2	+	3	1048	c.431G>A	c.(430-432)aGc>aAc	p.S144N		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	144					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	ATGTTCACCAGCATCTACTGT	0.647000													30	114					0	0	0.000184323	0	0
PTPN13	5783	broad.mit.edu	37	4	87610236	87610236	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:87610236C>A	ENST00000436978.1	+	5	919	c.439C>A	c.(439-441)Cgg>Agg	p.R147R	PTPN13_ENST00000502971.1_Silent_p.R147R|PTPN13_ENST00000511467.1_Silent_p.R147R|PTPN13_ENST00000411767.2_Silent_p.R147R|PTPN13_ENST00000316707.6_Silent_p.R147R|PTPN13_ENST00000427191.2_Silent_p.R147R	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	147	KIND.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGTTTCTGTTCGGACTGTGCT	0.418000													5	94					8.12818e-05	0.00129777	8.12818e-05	1	0
TRAJ9	28746	broad.mit.edu	37	14	23004532	23004532	+	RNA	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:23004532G>C	ENST00000390528.1	+	0	31																											AACTATCTTTGGAGCAGGAAC	0.373000													4	70					0	0	0.00024832	0	0
E2F3	1871	broad.mit.edu	37	6	20490622	20490622	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:20490622G>C	ENST00000346618.3	+	7	1425	c.1359G>C	c.(1357-1359)ttG>ttC	p.L453F	E2F3_ENST00000535432.1_Missense_Mutation_p.L322F	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	453	Transactivation (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			CTTACGATTTGGAAAAGCTCC	0.468000													7	417					0	0	0.000274275	0	0
USPL1	10208	broad.mit.edu	37	13	31233132	31233132	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:31233132C>G	ENST00000255304.4	+	9	3260	c.2918C>G	c.(2917-2919)gCg>gGg	p.A973G		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	973					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GAAATTTTAGCGGAATTATTG	0.428000													25	166					0	0	0.000586117	0	0
LIPT1	51601	broad.mit.edu	37	2	99778892	99778892	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:99778892G>C	ENST00000393477.3	+	4	824	c.472G>C	c.(472-474)Gga>Cga	p.G158R	MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000340066.1_Missense_Mutation_p.G158R|LIPT1_ENST00000393471.2_Missense_Mutation_p.G158R|LIPT1_ENST00000393473.2_Missense_Mutation_p.G158R|LIPT1_ENST00000393474.3_Missense_Mutation_p.G158R	NM_145197.2	NP_660198.1	Q9Y234	LIPT_HUMAN	lipoyltransferase 1	158					lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	TTTACTTGATGGACAGTTTAA	0.418000													4	128					0	0	0.00024832	0	0
KIF1A	547	broad.mit.edu	37	2	241676508	241676508	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:241676508C>G	ENST00000498729.2	-	38	4225	c.3979G>C	c.(3979-3981)Gga>Cga	p.G1327R	KIF1A_ENST00000320389.7_Missense_Mutation_p.G1226R	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1226					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)		TGGATGTATCCGGAAGAGAGG	0.617000													4	100					0	0	0.000602214	0	0
C5	727	broad.mit.edu	37	9	123787840	123787840	+	Missense_Mutation	SNP	G	G	T	rs149346283		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:123787840G>T	ENST00000223642.1	-	9	921	c.892C>A	c.(892-894)Caa>Aaa	p.Q298K		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	298					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	AATGTGACTTGAGCAATTCCA	0.303000													9	242					2.27111e-07	4.26548e-06	0.00010058	1	0
SEC23A	10484	broad.mit.edu	37	14	39532568	39532568	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:39532568G>C	ENST00000537403.1	-	8	1954	c.752C>G	c.(751-753)cCc>cGc	p.P251R	SEC23A_ENST00000536508.1_Missense_Mutation_p.P327R|SEC23A_ENST00000545328.2_Missense_Mutation_p.P424R|SEC23A_ENST00000307712.6_Missense_Mutation_p.P453R			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	453					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		GGTTGTAGTGGGACTAAGTCC	0.343000													4	74					0	0	3.59834e-05	0	0
RARRES2	5919	broad.mit.edu	37	7	150036097	150036097	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:150036097G>T	ENST00000466675.1	-	3	1386	c.353C>A	c.(352-354)cCc>cAc	p.P118H	RARRES2_ENST00000223271.3_Missense_Mutation_p.P118H|RARRES2_ENST00000482669.1_Missense_Mutation_p.P118H			Q99969	RARR2_HUMAN	retinoic acid receptor responder (tazarotene induced) 2	118					embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process	extracellular matrix	receptor binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			GGTCTCTATGGGGCAGTGGAC	0.602000													6	113					0.000274275	0.0038898	0.000274275	1	0
ABCC9	10060	broad.mit.edu	37	12	21962879	21962879	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:21962879C>T	ENST00000261200.4	-	35	4221	c.4222G>A	c.(4222-4224)Gat>Aat	p.D1408N	ABCC9_ENST00000345162.2_Missense_Mutation_p.D1372N|ABCC9_ENST00000261201.4_Missense_Mutation_p.D1408N	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1408	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CACTCTGGATCTAAATTAAAT	0.328000													11	70					0	0	0.000673444	0	0
SPEF2	79925	broad.mit.edu	37	5	35740308	35740308	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:35740308C>T	ENST00000440995.2	+	23	3254	c.3254C>T	c.(3253-3255)tCc>tTc	p.S1085F	SPEF2_ENST00000356031.3_Missense_Mutation_p.S1090F|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1090					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GATTTCAACTCCCTTCCTGAT	0.438000													11	96					0	0	6.40141e-05	0	0
RNF128	79589	broad.mit.edu	37	X	106033472	106033472	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:106033472C>G	ENST00000255499.2	+	5	1194	c.944C>G	c.(943-945)cCc>cGc	p.P315R	RNF128_ENST00000324342.3_Missense_Mutation_p.P289R	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	315						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						AGGACTTGCCCCATGTGCAAA	0.348000													5	115					0	0	0.000157383	0	0
C15orf26	161502	broad.mit.edu	37	15	81440239	81440239	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:81440239G>C	ENST00000286732.4	+	6	760	c.677G>C	c.(676-678)cGg>cCg	p.R226P		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	226										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						CACACAAATCGGGGACTGGCA	0.378000													4	74					0	0	0.000157383	0	0
WHAMMP3	339005	broad.mit.edu	37	15	23205183	23205183	+	RNA	SNP	G	G	C	rs143369458	by1000genomes	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:23205183G>C	ENST00000400153.2	-	0	671					NR_003521.1																						TTGGCTTTTCGGTGTCCTTGA	0.403000													4	20					0	0	0.00024832	0	0
ZNF347	84671	broad.mit.edu	37	19	53644356	53644356	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:53644356G>C	ENST00000452676.2	-	5	2154	c.1728C>G	c.(1726-1728)ggC>ggG	p.G576G	ZNF347_ENST00000601469.2_Silent_p.G576G|ZNF347_ENST00000334197.7_Silent_p.G575G|ZNF347_ENST00000601804.1_Intron	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	575					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TGAAGACCTTGCCACACTCAT	0.418000													6	217					0	0	3.59834e-05	0	0
MOSPD2	158747	broad.mit.edu	37	X	14930468	14930468	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:14930468C>A	ENST00000380492.3	+	10	1065	c.977C>A	c.(976-978)cCc>cAc	p.P326H	MOSPD2_ENST00000495110.1_3'UTR|MOSPD2_ENST00000482354.1_Missense_Mutation_p.P326H	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	326						integral to membrane	structural molecule activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					TTTAAAGGCCCCTTACTACAC	0.323000													6	83					3.59834e-05	0.000600898	3.59834e-05	1	0
CAMKMT	79823	broad.mit.edu	37	2	44993569	44993569	+	Splice_Site	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:44993569G>C	ENST00000378494.3	+	10	807	c.762_splice	c.e10-1	p.G255_splice		NM_024766.3	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	255						cytoplasm	calmodulin-lysine N-methyltransferase activity			breast(2)|large_intestine(3)|lung(5)	10						ACTGTTCTAGGGGAAAGCGAT	0.368000													5	84					0	0	0.000274275	0	0
TMEM200B	399474	broad.mit.edu	37	1	29448325	29448325	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:29448325G>T	ENST00000420504.2	-	2	173	c.16C>A	c.(16-18)Ccc>Acc	p.P6T	TMEM200B_ENST00000521452.1_Missense_Mutation_p.P6T	NM_001171868.1	NP_001165339.1	Q69YZ2	T200B_HUMAN	transmembrane protein 200B	6						integral to membrane				ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)		CATTCTTCGGGGCTCCCGGCC	0.751000													4	11					6.5536e-12	1.29102e-10	0.000157383	1	0
C4orf36	132989	broad.mit.edu	37	4	87812627	87812627	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:87812627C>A	ENST00000473559.1	-	5	710	c.47G>T	c.(46-48)cGg>cTg	p.R16L	C4orf36_ENST00000295898.3_Missense_Mutation_p.R16L|C4orf36_ENST00000503001.1_5'UTR			Q96KX1	CD036_HUMAN	chromosome 4 open reading frame 36	16										breast(1)|kidney(1)|lung(1)|prostate(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00141)		ACAACTGCCCCGCAAAATGGT	0.398000													7	198					0.000673444	0.0084606	0.000673444	1	0
MTMR12	54545	broad.mit.edu	37	5	32271028	32271028	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:32271028G>C	ENST00000382142.3	-	5	554	c.384C>G	c.(382-384)ctC>ctG	p.L128L	MTMR12_ENST00000280285.5_Silent_p.L128L|MTMR12_ENST00000264934.5_Silent_p.L128L	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	128						cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GTTGTCCAAAGAGAGTTTTCT	0.388000													4	106					0	0	0.00024832	0	0
ASZ1	136991	broad.mit.edu	37	7	117066890	117066890	+	Splice_Site	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:117066890C>A	ENST00000284629.2	-	2	267	c.205_splice	c.e2+1	p.G69_splice		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	69					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TATCTCTCACCAGAATCTAGG	0.363000													10	302					3.45872e-05	0.000585782	0.000422831	1	0
TAF2	6873	broad.mit.edu	37	8	120816186	120816186	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:120816186G>C	ENST00000378164.2	-	5	790	c.492C>G	c.(490-492)ccC>ccG	p.P164P		NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	164					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.P164P(2)		NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CCTCTACACTGGGTACCACAA	0.358000													4	146					0	0	3.59834e-05	0	0
LGR6	59352	broad.mit.edu	37	1	202276531	202276531	+	Splice_Site	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:202276531T>C	ENST00000367278.3	+	14	1369		c.e14+2		LGR6_ENST00000439764.2_Splice_Site|LGR6_ENST00000255432.7_Splice_Site	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6							integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGTCAAGCTGTAAGTGCCTGC	0.617000													3	54					0	0	0.00024832	0	0
DRP2	1821	broad.mit.edu	37	X	100497447	100497447	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:100497447G>A	ENST00000395209.3	+	8	1489	c.962G>A	c.(961-963)tGg>tAg	p.W321*	DRP2_ENST00000541709.1_Nonsense_Mutation_p.W243*|DRP2_ENST00000538510.1_Nonsense_Mutation_p.W321*|DRP2_ENST00000402866.1_Nonsense_Mutation_p.W321*	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	321					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						AACGTCCGATGGAAACAACTA	0.498000													5	134					0	0	0.000602214	0	0
EIF4G3	8672	broad.mit.edu	37	1	21268757	21268757	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:21268757C>G	ENST00000602326.1	-	12	1323	c.740G>C	c.(739-741)gGa>gCa	p.G247A	EIF4G3_ENST00000374937.3_Missense_Mutation_p.G247A|EIF4G3_ENST00000356916.3_Missense_Mutation_p.G252A|EIF4G3_ENST00000264211.8_Missense_Mutation_p.G241A|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000400422.1_Missense_Mutation_p.G241A|EIF4G3_ENST00000374927.4_Missense_Mutation_p.G241A|EIF4G3_ENST00000374935.3_Intron	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	241					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TTTCTTCTCTCCACTGAGGAC	0.428000													4	198					0	0	3.59834e-05	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5182417	5182417	+	Splice_Site	SNP	A	A	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:5182417A>C	ENST00000274181.7	+	4	900	c.763_splice	c.e4+1	p.K254_splice	ADAMTS16_ENST00000511368.1_Splice_Site_p.K254_splice	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	254					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GACGCAAGAAATGTATGTAAG	0.483000													12	73					0	0	0.000422831	0	0
NCOA7	135112	broad.mit.edu	37	6	126243890	126243890	+	Silent	SNP	A	A	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:126243890A>G	ENST00000368357.3	+	14	2785	c.2433A>G	c.(2431-2433)ttA>ttG	p.L811L	NCOA7_ENST00000392477.2_Silent_p.L811L|NCOA7_ENST00000229634.9_Silent_p.L696L	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	811	TLD.				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		ATAGCACGTTAGAGCACGGGA	0.507000													3	71					0	0	0.00024832	0	0
RBMX	27316	broad.mit.edu	37	X	135961216	135961216	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:135961216G>T	ENST00000562646.1	-	3	330	c.176C>A	c.(175-177)cCa>cAa	p.P59Q	RBMX_ENST00000320676.7_Missense_Mutation_p.P59Q|RBMX_ENST00000565438.1_Intron|RBMX_ENST00000570135.1_5'UTR|RBMX_ENST00000431446.3_Missense_Mutation_p.P59Q			P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	59	RRM.					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					AGCGTCTGCTGGGCTTTCAAA	0.378000													11	290					2.23348e-06	4.03964e-05	0.000422831	1	0
SELENBP1	8991	broad.mit.edu	37	1	151340722	151340722	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:151340722C>G	ENST00000435071.1	-	5	704	c.242G>C	c.(241-243)gGg>gCg	p.G81A	SELENBP1_ENST00000426705.2_Missense_Mutation_p.G187A|SELENBP1_ENST00000447402.3_Missense_Mutation_p.G83A|SELENBP1_ENST00000473693.1_5'UTR|SELENBP1_ENST00000368868.5_Missense_Mutation_p.G145A			Q13228	SBP1_HUMAN	selenium binding protein 1	145					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CATCACTTCCCCGCTGGCCAG	0.567000													4	113					0	0	0.00024832	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88887597	88887597	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:88887597C>A	ENST00000303236.3	-	8	1633	c.1332G>T	c.(1330-1332)ttG>ttT	p.L444F	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.L293F	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	444					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						CAGATCCTACCAAGACAGGAG	0.299000													10	286					0.000673444	0.0084606	0.000673444	1	0
AKAP13	11214	broad.mit.edu	37	15	86189164	86189164	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:86189164G>C	ENST00000394518.2	+	10	4448	c.4353G>C	c.(4351-4353)atG>atC	p.M1451I	RP11-815J21.4_ENST00000558980.1_RNA|AKAP13_ENST00000361243.2_Missense_Mutation_p.M1451I|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1451					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GTGATGACATGGACAGCATCA	0.448000													5	158					0	0	3.59834e-05	0	0
KCNH7	90134	broad.mit.edu	37	2	163302627	163302627	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:163302627G>C	ENST00000332142.5	-	7	1554	c.1455C>G	c.(1453-1455)ccC>ccG	p.P485P	KCNH7_ENST00000328032.4_Silent_p.P478P	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	485					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CTATTTTGGCGGGATCACTTA	0.358000													3	51					0	0	0.00024832	0	0
KALRN	8997	broad.mit.edu	37	3	124132403	124132403	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:124132403G>C	ENST00000360013.3	+	14	2554	c.2427G>C	c.(2425-2427)caG>caC	p.Q809H	KALRN_ENST00000240874.3_Missense_Mutation_p.Q809H|KALRN_ENST00000460856.1_Missense_Mutation_p.Q809H	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	809					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGGCAGAACAGCGGCTGCAGC	0.542000													4	55					0	0	0.00024832	0	0
TENM2	57451	broad.mit.edu	37	5	167517771	167517771	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:167517771C>G	ENST00000519204.1	+	7	1463	c.1345C>G	c.(1345-1347)Cta>Gta	p.L449V	TENM2_ENST00000520394.1_Missense_Mutation_p.L338V|TENM2_ENST00000545108.1_Missense_Mutation_p.L570V|TENM2_ENST00000518659.1_Missense_Mutation_p.L570V|TENM2_ENST00000403607.2_Missense_Mutation_p.L403V|CTB-178M22.1_ENST00000517408.1_RNA					teneurin transmembrane protein 2																		TACTGTTGTCCTAGGTAGGTG	0.473000													4	114					0	0	0.00024832	0	0
PARD3B	117583	broad.mit.edu	37	2	206166430	206166430	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:206166430G>T	ENST00000462231.1	+	18	2795	c.2635G>T	c.(2635-2637)Ggg>Tgg	p.G879W	PARD3B_ENST00000351153.1_Intron|PARD3B_ENST00000406610.2_Intron|PARD3B_ENST00000349953.3_Intron|PARD3B_ENST00000358768.2_Intron			Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	879	Lys-rich.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GCTGAGGTATGGGCCTGCTTT	0.443000													5	56					0.000157383	0.00236471	0.000157383	1	0
PGLYRP4	57115	broad.mit.edu	37	1	153318593	153318593	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:153318593G>T	ENST00000368739.3	-	3	482	c.124C>A	c.(124-126)Cag>Aag	p.Q42K	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.Q42K|PGLYRP4_ENST00000490266.1_5'UTR			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	42					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCAGTGAGCTGGGAGATGTTC	0.453000													7	161					0.000673444	0.0084606	0.000673444	1	0
KIAA1841	84542	broad.mit.edu	37	2	61308592	61308592	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:61308592G>T	ENST00000402291.1	+	7	917	c.676G>T	c.(676-678)Gga>Tga	p.G226*	KIAA1841_ENST00000453873.1_Nonsense_Mutation_p.G226*|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000295031.5_Nonsense_Mutation_p.G226*|KIAA1841_ENST00000356719.2_Nonsense_Mutation_p.G226*	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	226										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			TTTAGAGCCAGGAAATGTCAT	0.328000													10	297					1.58986e-06	2.89309e-05	0.000673444	1	0
MRPL4	51073	broad.mit.edu	37	19	10367417	10367417	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:10367417C>A	ENST00000393733.2	+	5	388	c.361C>A	c.(361-363)Cgg>Agg	p.R121R	MRPL4_ENST00000588502.1_Silent_p.R120R|MRPL4_ENST00000590669.1_Silent_p.R121R|MRPL4_ENST00000307422.5_Silent_p.R121R|CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000253099.6_Silent_p.R121R			Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4	121					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		AGCCGAGGTGCGGGGCGGTGG	0.672000													7	123					0.000442599	0.00584094	0.000442599	1	0
PIGK	10026	broad.mit.edu	37	1	77627362	77627362	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:77627362G>T	ENST00000370812.3	-	7	642	c.619C>A	c.(619-621)Caa>Aaa	p.Q207K	PIGK_ENST00000359130.1_Missense_Mutation_p.Q207K|PIGK_ENST00000370813.5_Missense_Mutation_p.Q131K|PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000445065.1_Missense_Mutation_p.Q113K	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	207					attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						GATGCTCCTTGGCAAGTATCA	0.363000													6	89					0.000157383	0.00236471	0.000157383	1	0
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1																						CAGATCAAGAAAGCACTCTGA	0.498000													5	106					0	0	0.00010058	0	0
LONRF2	164832	broad.mit.edu	37	2	100919445	100919445	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:100919445C>T	ENST00000393437.3	-	3	1498	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	LONRF2_ENST00000409647.1_Missense_Mutation_p.E44K	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	287					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TAGAGAAATTCCTTTAACACT	0.393000													15	87					0	0	0.000422831	0	0
CHRNA1	1134	broad.mit.edu	37	2	175618228	175618228	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:175618228C>A	ENST00000409323.1	-	6	839	c.781G>T	c.(781-783)Ggg>Tgg	p.G261W	CHRNA1_ENST00000261007.5_Intron|CHRNA1_ENST00000409542.1_Intron|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409219.1_Intron|CHRNA1_ENST00000348749.5_Intron			P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	0					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						CAACCACACCCACCTGAGTCT	0.537000													7	140					0.000157383	0.00236471	0.000157383	1	0
C9orf139	401563	broad.mit.edu	37	9	139929107	139929107	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:139929107C>G	ENST00000314330.2	+	3	1688	c.174C>G	c.(172-174)ccC>ccG	p.P58P		NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	58										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		AACAGACACCCGGCGGCAGTT	0.662000													5	102					0	0	0.000157383	0	0
A1BG	1	broad.mit.edu	37	19	58858888	58858888	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:58858888C>G	ENST00000263100.3	-	7	1372	c.1311G>C	c.(1309-1311)gaG>gaC	p.E437D	A1BG_ENST00000596924.1_5'UTR	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	437	Ig-like V-type 5.					extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		TCGTCTCGCCCTCGCGCAGCA	0.726000													3	20					0	0	3.59834e-05	0	0
ZNF549	256051	broad.mit.edu	37	19	58046562	58046562	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:58046562G>C	ENST00000602149.1	+	3	271	c.123G>C	c.(121-123)tgG>tgC	p.W41C	ZNF549_ENST00000376233.3_Missense_Mutation_p.W41C|ZNF549_ENST00000240719.3_Missense_Mutation_p.W28C|ZNF549_ENST00000594943.1_Intron			Q6P9A3	ZN549_HUMAN	zinc finger protein 549	41	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGGAGGAGTGGGGCCTCCTTG	0.493000													4	105					0	0	0.00024832	0	0
SLC25A19	60386	broad.mit.edu	37	17	73274308	73274308	+	Missense_Mutation	SNP	C	C	G	rs140556110		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:73274308C>G	ENST00000402418.3	-	4	1477	c.568G>C	c.(568-570)Ggg>Cgg	p.G190R	SLC25A19_ENST00000416858.2_Missense_Mutation_p.G190R|SLC25A19_ENST00000580994.1_Missense_Mutation_p.G190R|SLC25A19_ENST00000320362.3_Missense_Mutation_p.G190R|SLC25A19_ENST00000375261.4_Missense_Mutation_p.G133R|SLC25A19_ENST00000442286.2_Missense_Mutation_p.G190R			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	190						integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			AACTGCAGCCCGGCGTAGGGG	0.582000													5	140					0	0	0.000442599	0	0
ZNF48	197407	broad.mit.edu	37	16	30409776	30409776	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:30409776C>T	ENST00000320159.2	+	2	1581	c.1205C>T	c.(1204-1206)cCc>cTc	p.P402L		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	402	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						CCCAGCCCACCCCCACCTCCT	0.667000													4	60					0	0	0.00024832	0	0
ZNF845	91664	broad.mit.edu	37	19	53855830	53855830	+	Silent	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:53855830T>C	ENST00000458035.1	+	4	2019	c.1902T>C	c.(1900-1902)ccT>ccC	p.P634P	ZNF845_ENST00000595091.1_Silent_p.P634P	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	634					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GAGAGAAACCTTACAAATGTG	0.363000													11	61					0	0	0.000673444	0	0
PDE1A	5136	broad.mit.edu	37	2	183066203	183066203	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:183066203C>A	ENST00000435564.1	-	10	1336	c.1136G>T	c.(1135-1137)cGg>cTg	p.R379L	PDE1A_ENST00000409365.1_Missense_Mutation_p.R363L|PDE1A_ENST00000410103.1_Missense_Mutation_p.R379L|PDE1A_ENST00000358139.2_Missense_Mutation_p.R379L|PDE1A_ENST00000351439.5_Missense_Mutation_p.R363L|PDE1A_ENST00000456212.1_Missense_Mutation_p.R379L|PDE1A_ENST00000346717.4_Missense_Mutation_p.R345L|PDE1A_ENST00000331935.6_Missense_Mutation_p.R379L|PDE1A_ENST00000536095.1_Missense_Mutation_p.R275L	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	379	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CATGGTCCACCGATAATGCAG	0.488000													7	81					0.000442599	0.00584094	0.000442599	1	0
TMX3	54495	broad.mit.edu	37	18	66351431	66351431	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:66351431G>T	ENST00000299608.2	-	12	1160	c.844C>A	c.(844-846)Cat>Aat	p.H282N		NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	282					cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						ACCTACCTATGGAAGAGGTCT	0.313000													8	230					0.000442599	0.00584094	0.000442599	1	0
OTUD7B	56957	broad.mit.edu	37	1	149916792	149916792	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:149916792G>T	ENST00000369135.3	-	12	1790	c.1496C>A	c.(1495-1497)gCa>gAa	p.A499E		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	499					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CACAGAATCTGCTCTCTTCTT	0.552000													8	217					3.86212e-05	0.000638159	0.000673444	1	0
CMYA5	202333	broad.mit.edu	37	5	79030213	79030213	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:79030213G>C	ENST00000446378.2	+	2	5656	c.5625G>C	c.(5623-5625)gcG>gcC	p.A1875A		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1875			A -> V (in dbSNP:rs16877147).			perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CCAAGCCTGCGGATGTCAAAG	0.368000													4	112					0	0	0.000602214	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562215	140562215	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:140562215C>A	ENST00000361016.2	+	1	1236	c.81C>A	c.(79-81)ggC>ggA	p.G27G		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		27					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGGGGCGGGCGCCGAGTTGG	0.488000													6	183					0.000157383	0.00236471	0.000157383	1	0
OR5K1	26339	broad.mit.edu	37	3	98188534	98188534	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:98188534C>T	ENST00000332650.5	+	1	211	c.114C>T	c.(112-114)acC>acT	p.T38T		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T38T(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATCTGATCACCGTGGTGGGGA	0.433000													4	52					0	0	0.00024832	0	0
ANTXR1	84168	broad.mit.edu	37	2	69409628	69409628	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:69409628C>T	ENST00000303714.4	+	16	1511	c.1189C>T	c.(1189-1191)Cgt>Tgt	p.R397C		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	397					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ATTTTAGGTTCGTTGGGGAGA	0.413000									Familial Infantile Hemangioma				13	68					0	0	0.000219431	0	0
PTPN11	5781	broad.mit.edu	37	12	112893802	112893802	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:112893802C>A	ENST00000351677.2	+	6	889	c.691C>A	c.(691-693)Cga>Aga	p.R231R	PTPN11_ENST00000392597.1_Silent_p.R231R	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	231					axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						AAGCAGAGTTCGAGAACTAAG	0.358000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				5	83					3.59834e-05	0.000600898	3.59834e-05	1	0
OGN	4969	broad.mit.edu	37	9	95152205	95152205	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:95152205G>T	ENST00000262551.4	-	5	981	c.561C>A	c.(559-561)ccC>ccA	p.P187P	CENPP_ENST00000375587.3_Intron|OGN_ENST00000468743.1_5'UTR|OGN_ENST00000375561.5_Silent_p.P187P	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	187						extracellular space|proteinaceous extracellular matrix	growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						AAGTGAGCTTGGGAGGAAGAA	0.308000													8	241					1.58986e-06	2.89309e-05	0.000673444	1	0
CUL2	8453	broad.mit.edu	37	10	35343418	35343418	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:35343418G>A	ENST00000374748.1	-	6	680	c.367C>T	c.(367-369)Ctt>Ttt	p.L123F	CUL2_ENST00000374746.1_Missense_Mutation_p.L123F|CUL2_ENST00000374742.1_Missense_Mutation_p.L123F|CUL2_ENST00000537177.1_Missense_Mutation_p.L142F|CUL2_ENST00000374749.3_Missense_Mutation_p.L123F|CUL2_ENST00000602371.1_Missense_Mutation_p.L66F|CUL2_ENST00000374751.3_Missense_Mutation_p.L123F			Q13617	CUL2_HUMAN	cullin 2	123					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CCATACTGAAGGTCCGCTTCT	0.323000													22	104					0	0	0.000586117	0	0
CNBD2	140894	broad.mit.edu	37	20	34560590	34560590	+	Missense_Mutation	SNP	C	C	G	rs138466031		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:34560590C>G	ENST00000373973.3	+	2	264	c.91C>G	c.(91-93)Cga>Gga	p.R31G	CNBD2_ENST00000349339.1_Missense_Mutation_p.R31G|CNBD2_ENST00000538900.1_Missense_Mutation_p.R31G					cyclic nucleotide binding domain containing 2																		CATAATGATCCGAGTGTGTAA	0.458000													6	132					0	0	3.59834e-05	0	0
ZNF630	57232	broad.mit.edu	37	X	47918963	47918963	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:47918963G>A	ENST00000276054.4	-	5	1430	c.496C>T	c.(496-498)Cca>Tca	p.P166S	ZNF630_ENST00000409324.3_Missense_Mutation_p.P290S|ZNF630_ENST00000442455.3_Missense_Mutation_p.P276S|ZNF630-AS1_ENST00000436124.1_RNA			Q2M218	ZN630_HUMAN	zinc finger protein 630	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						CATACATATGGTTTCTCTCCA	0.398000													18	129					0	0	9.7654e-05	0	0
COPS2	9318	broad.mit.edu	37	15	49420924	49420924	+	Silent	SNP	A	A	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:49420924A>G	ENST00000388901.5	-	12	1235	c.1162T>C	c.(1162-1164)Ttg>Ctg	p.L388L	COPS2_ENST00000542928.1_Silent_p.L324L|COPS2_ENST00000299259.6_Silent_p.L395L	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	388	PCI.				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		TGCACCAGCAAGCTCTCCACA	0.299000													35	223					0	0	0.000374591	0	0
LPAL2	80350	broad.mit.edu	37	6	160888624	160888624	+	RNA	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:160888624G>A	ENST00000335388.5	-	0	1632					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		TCGGAGGAGCGACCACAGTCC	0.527000													12	57					0	0	6.40141e-05	0	0
CENPL	91687	broad.mit.edu	37	1	173772407	173772407	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:173772407G>C	ENST00000356198.2	-	6	1080	c.795C>G	c.(793-795)tcC>tcG	p.S265S	CENPL_ENST00000345664.6_Silent_p.S219S|CENPL_ENST00000367710.3_Silent_p.S219S	NM_001127181.2	NP_001120653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	219					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						CAGCCATCCAGGAAAGATTAA	0.408000													4	185					0	0	3.59834e-05	0	0
CFH	3075	broad.mit.edu	37	1	196715007	196715007	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:196715007C>G	ENST00000367429.4	+	21	3611	c.3371C>G	c.(3370-3372)cCg>cGg	p.P1124R		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1124	Sushi 19.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ACTTCATTCCCGTTGTCAGTA	0.413000													4	173					0	0	0.00024832	0	0
KRT39	390792	broad.mit.edu	37	17	39119953	39119953	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:39119953C>G	ENST00000355612.2	-	3	669	c.634G>C	c.(634-636)Ggc>Cgc	p.G212R	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	212	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				TCGGCCTTGCCCAGGGTCAGC	0.502000													5	120					0	0	0.000602214	0	0
HDGF	3068	broad.mit.edu	37	1	156714117	156714117	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:156714117C>A	ENST00000357325.5	-	4	641	c.327G>T	c.(325-327)gtG>gtT	p.V109V	HDGF_ENST00000416666.2_Silent_p.V77V|HDGF_ENST00000368209.5_Silent_p.V102V|HDGF_ENST00000537739.1_Silent_p.V109V|HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000368206.5_Silent_p.V125V	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	109					cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CAGGCTCTTCCACACAGCTCT	0.612000													9	274					0.000442599	0.00584094	0.000442599	1	0
RPL36AL	6166	broad.mit.edu	37	14	50085510	50085510	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:50085510G>T	ENST00000298289.6	-	2	472	c.313C>A	c.(313-315)Cag>Aag	p.Q105K		NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN	ribosomal protein L36a-like	105					translation	ribosome	structural constituent of ribosome					all_epithelial(31;0.0021)|Breast(41;0.0124)					GTTTAGAACTGGATCACTTGG	0.393000													8	182					0.00010058	0.00160074	0.00010058	1	0
GP2	2813	broad.mit.edu	37	16	20330986	20330986	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:20330986C>G	ENST00000302555.5	-	6	1112	c.963G>C	c.(961-963)ctG>ctC	p.L321L	GP2_ENST00000341642.5_Silent_p.L174L|GP2_ENST00000573897.1_5'UTR|GP2_ENST00000381362.4_Silent_p.L324L|GP2_ENST00000381360.5_Silent_p.L177L			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	324	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CTTTCATGTCCAGTGGGTAGG	0.478000													5	143					0	0	0.000602214	0	0
SPANXN5	494197	broad.mit.edu	37	X	52826360	52826360	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:52826360C>G	ENST00000375511.3	-	1	781	c.29G>C	c.(28-30)gGg>gCg	p.G10A		NM_001009616.2	NP_001009616.1	Q5MJ07	SPXN5_HUMAN	SPANX family, member N5	10										large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					CCTCTTCTCCCCATTGGTGCT	0.453000													4	160					0	0	0.000157383	0	0
NXPH3	11248	broad.mit.edu	37	17	47656118	47656118	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:47656118C>T	ENST00000328741.5	+	2	577	c.215C>T	c.(214-216)cCt>cTt	p.P72L	NXPH3_ENST00000513748.1_Missense_Mutation_p.P72L	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	72	II.				neuropeptide signaling pathway	extracellular region				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					CTGGCCCCGCCTGGGGAGGCT	0.682000													6	73					0	0	3.59834e-05	0	0
SLC25A52	147407	broad.mit.edu	37	18	29340133	29340133	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:29340133C>T	ENST00000269205.5	-	1	710	c.522G>A	c.(520-522)ctG>ctA	p.L174L	SLC25A52_ENST00000579441.2_Silent_p.L164L	NM_001034172.2	NP_001029344.3	Q3SY17	MCAR2_HUMAN	solute carrier family 25, member 52	164					transport	integral to membrane|mitochondrial inner membrane											CATGACATTTCAGTGCCTTGA	0.428000													29	189					0	0	0.000491102	0	0
ATXN10	25814	broad.mit.edu	37	22	46125372	46125372	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:46125372C>G	ENST00000252934.5	+	7	1061	c.796C>G	c.(796-798)Cct>Gct	p.P266A	ATXN10_ENST00000381061.4_Missense_Mutation_p.P202A	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	266					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		GGATGACATCCCTGTGTTTTT	0.458000													4	84					0	0	3.59834e-05	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				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	p.Q269Q(15)		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						gctgctgctgctgttgttgtt	0.537000													8	92					0	0	0.000157383	0	0
EML5	161436	broad.mit.edu	37	14	89124642	89124642	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:89124642G>C	ENST00000554922.1	-	26	4014	c.3766C>G	c.(3766-3768)Cta>Gta	p.L1256V	EML5_ENST00000352093.5_Missense_Mutation_p.L1218V|EML5_ENST00000380664.5_Missense_Mutation_p.L1256V	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1256						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GTACCGCCTAGGGTAACCAAC	0.418000													5	146					0	0	0.000602214	0	0
KANK4	163782	broad.mit.edu	37	1	62737248	62737248	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:62737248C>A	ENST00000371153.4	-	4	2292	c.1914G>T	c.(1912-1914)tcG>tcT	p.S638S	KANK4_ENST00000371150.1_5'UTR|KANK4_ENST00000354381.3_Silent_p.S10S	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	638										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TAAGGCTGGTCGATGGGGAGA	0.458000													5	53					8.12818e-05	0.00129777	8.12818e-05	1	0
SCAF4	57466	broad.mit.edu	37	21	33067275	33067275	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:33067275C>G	ENST00000286835.7	-	10	1469	c.1087G>C	c.(1087-1089)Gga>Cga	p.G363R	SCAF4_ENST00000399804.1_Missense_Mutation_p.G363R|SCAF4_ENST00000434667.3_Missense_Mutation_p.G348R	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	363						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GGCATTTGTCCATTAGGAGGA	0.398000													4	98					0	0	0.00024832	0	0
TEK	7010	broad.mit.edu	37	9	27172633	27172633	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:27172633G>C	ENST00000380036.4	+	5	1090	c.648G>C	c.(646-648)tgG>tgC	p.W216C	TEK_ENST00000519097.1_Missense_Mutation_p.W112C|TEK_ENST00000406359.4_Missense_Mutation_p.W216C	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	216	EGF-like 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.W216*(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CCCAGAAGTGGGGACCTGAAT	0.468000													3	39					0	0	0.000602214	0	0
SMYD3	64754	broad.mit.edu	37	1	246021953	246021953	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:246021953G>T	ENST00000490107.1	-	10	960	c.744C>A	c.(742-744)gcC>gcA	p.A248A	SMYD3_ENST00000388985.4_Silent_p.A307A|SMYD3_ENST00000541742.1_Silent_p.A248A|SMYD3_ENST00000366517.1_5'UTR	NM_001167740.1	NP_001161212.1	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	307						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		CCTGGCACATGGCCAGAACCT	0.433000													6	125					0.000274275	0.0038898	0.000274275	1	0
RORC	6097	broad.mit.edu	37	1	151801933	151801933	+	Splice_Site	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:151801933C>A	ENST00000392697.3	-	3	232	c.202_splice	c.e3-1	p.E68_splice	RORC_ENST00000318247.6_Splice_Site_p.E14_splice			P51449	RORG_HUMAN	RAR-related orphan receptor C	14					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCCAGCAGCTCTGTAAAGA	0.532000													6	122					1.06961e-07	2.02547e-06	0.000157383	1	0
FGFR1	2260	broad.mit.edu	37	8	38283655	38283655	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:38283655G>T	ENST00000447712.2	-	6	1671	c.730C>A	c.(730-732)Cag>Aag	p.Q244K	FGFR1_ENST00000397108.4_Missense_Mutation_p.Q242K|FGFR1_ENST00000335922.5_Missense_Mutation_p.Q236K|FGFR1_ENST00000397113.2_Missense_Mutation_p.Q242K|FGFR1_ENST00000326324.6_Missense_Mutation_p.Q153K|FGFR1_ENST00000532791.1_Missense_Mutation_p.Q244K|FGFR1_ENST00000356207.5_Missense_Mutation_p.Q155K|FGFR1_ENST00000397091.5_Missense_Mutation_p.Q242K|FGFR1_ENST00000425967.3_Missense_Mutation_p.Q275K|FGFR1_ENST00000397103.1_Missense_Mutation_p.Q153K|FGFR1_ENST00000341462.5_Missense_Mutation_p.Q245K	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	244	Ig-like C2-type 2.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	ACATCCAGCTGGTATGTGTGG	0.542000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""				OREG0018722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	119					0.000673444	0.0084606	0.000673444	1	0
AMPD1	270	broad.mit.edu	37	1	115238106	115238106	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:115238106C>T	ENST00000369538.3	-	1	133	c.86G>A	c.(85-87)aGg>aAg	p.R29K	AMPD1_ENST00000520113.2_Missense_Mutation_p.R29K|AMPD1_ENST00000353928.6_5'UTR	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	0					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TGCTGAAATCCTTGATTCTAG	0.373000													29	167					0	0	0.000491102	0	0
CDK15	65061	broad.mit.edu	37	2	202677264	202677264	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:202677264C>A	ENST00000450471.2	+	4	513	c.427C>A	c.(427-429)Cca>Aca	p.P143T	CDK15_ENST00000374598.4_Missense_Mutation_p.P143T|CDK15_ENST00000410091.3_Missense_Mutation_p.P92T|CDK15_ENST00000434439.1_Missense_Mutation_p.P143T|CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000260967.2_Missense_Mutation_p.P92T	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	143	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding	p.P92T(1)		breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	GGAAGGAGTCCCATTTACAGC	0.408000													8	127					0.000442599	0.00584094	0.000442599	1	0
CCT5	22948	broad.mit.edu	37	5	10260916	10260916	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:10260916G>T	ENST00000280326.4	+	7	1306	c.886G>T	c.(886-888)Ggt>Tgt	p.G296C	CCT5_ENST00000503026.1_Missense_Mutation_p.G275C|CCT5_ENST00000506600.1_Missense_Mutation_p.G203C|CCT5_ENST00000515676.1_Missense_Mutation_p.G258C|CCT5_ENST00000515390.1_Missense_Mutation_p.G241C	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	296					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						TAAAGAGACTGGTGCTAACCT	0.423000													11	227					9.31168e-06	0.000163173	0.000151284	1	0
GAS2L2	246176	broad.mit.edu	37	17	34074128	34074128	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:34074128C>T	ENST00000254466.6	-	5	1019	c.992G>A	c.(991-993)cGa>cAa	p.R331Q	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R315Q	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	331					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTCAGCCTTCGGTCTGAAGA	0.632000													15	90					0	0	0.000308642	0	0
LHFPL1	340596	broad.mit.edu	37	X	111903871	111903871	+	Silent	SNP	G	G	T	rs141315503		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:111903871G>T	ENST00000371968.3	-	3	704	c.465C>A	c.(463-465)tcC>tcA	p.S155S	LHFPL1_ENST00000536453.1_Intron|LHFPL1_ENST00000478229.1_Intron	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	155						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						GAAATTGATTGGAGACATTCC	0.468000													7	191					2.17888e-05	0.00037262	0.000442599	1	0
LAMA1	284217	broad.mit.edu	37	18	6973127	6973127	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:6973127C>G	ENST00000389658.3	-	47	6796	c.6703G>C	c.(6703-6705)Ggg>Cgg	p.G2235R		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2235	Laminin G-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTAGCTGTCCCAGGGGATTTA	0.383000													5	84					0	0	0.000602214	0	0
ICA1L	130026	broad.mit.edu	37	2	203684471	203684471	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:203684471G>C	ENST00000392237.2	-	6	668	c.511C>G	c.(511-513)Caa>Gaa	p.Q171E	ICA1L_ENST00000425178.1_Missense_Mutation_p.Q171E|ICA1L_ENST00000418208.1_3'UTR|ICA1L_ENST00000358299.2_Missense_Mutation_p.Q171E	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	171	AH.									breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCCAGCTCTTGGGATACATCT	0.418000													5	346					0	0	0.000157383	0	0
CADPS	8618	broad.mit.edu	37	3	62463952	62463952	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:62463952C>T	ENST00000383710.4	-	23	3662	c.3313G>A	c.(3313-3315)Gaa>Aaa	p.E1105K	CADPS_ENST00000357948.3_Missense_Mutation_p.E1026K|CADPS_ENST00000283269.9_Missense_Mutation_p.E1066K	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1105	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ACACAAGATTCGATCATGTCA	0.507000													23	87					0	0	0.000184323	0	0
SAMD9	54809	broad.mit.edu	37	7	92731459	92731459	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:92731459C>G	ENST00000379958.2	-	3	4221	c.3952G>C	c.(3952-3954)Ggt>Cgt	p.G1318R		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1318						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GATCCAAGACCTGTGTTGTTT	0.378000													5	198					0	0	3.59834e-05	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35925906	35925906	+	Splice_Site	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:35925906C>G	ENST00000325722.3	-	9	1661	c.1427_splice	c.e9+1	p.S476_splice	KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	476	PKD 2.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCTAATTTACCTGAAAGTGTA	0.368000													4	81					0	0	0.000157383	0	0
PLIN4	729359	broad.mit.edu	37	19	4512127	4512127	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:4512127G>T	ENST00000301286.3	-	3	1802	c.1803C>A	c.(1801-1803)acC>acA	p.T601T		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	601	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CTGTCTGGACGGTCCCTTTGG	0.597000													9	261					0.000673444	0.0084606	0.000673444	1	0
EPS8L1	54869	broad.mit.edu	37	19	55597560	55597560	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:55597560G>A	ENST00000201647.6	+	16	1706	c.1650_splice	c.e16+1	p.L550_splice	EPS8L1_ENST00000588359.1_Splice_Site_p.L236_splice|EPS8L1_ENST00000245618.5_Splice_Site_p.L423_splice|EPS8L1_ENST00000540810.1_Splice_Site_p.L486_splice|EPS8L1_ENST00000586329.1_Intron	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	550	Pro-rich.					cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCCGCAGCCTGGTGAGCCAGC	0.652000													4	55					0	0	3.59834e-05	0	0
LDHAL6A	160287	broad.mit.edu	37	11	18499168	18499168	+	Splice_Site	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:18499168G>T	ENST00000280706.2	+	6	1509	c.710_splice	c.e6-1	p.G238_splice	TSG101_ENST00000536719.1_Intron|LDHAL6A_ENST00000396213.3_Splice_Site_p.G238_splice	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	238					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			large_intestine(3)|lung(9)|urinary_tract(1)	13					NADH(DB00157)	TATCTACAGTGGCTATGAGAT	0.363000													7	191					0.000274275	0.0038898	0.000274275	1	0
RP11-483E23.2	0	broad.mit.edu	37	15	28599954	28599954	+	RNA	SNP	A	A	G	rs144345425	by1000genomes	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:28599954A>G	ENST00000568624.1	-	0	452																											GGCTGTAGTAAAGTGCCATCT	0.478000													6	211					0	0	0.000157383	0	0
ARNT	405	broad.mit.edu	37	1	150784569	150784569	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:150784569C>G	ENST00000358595.5	-	22	2498	c.2298G>C	c.(2296-2298)ctG>ctC	p.L766L	ARNT_ENST00000505755.1_Silent_p.L751L|ARNT_ENST00000515192.1_Silent_p.L752L|ARNT_ENST00000354396.2_Silent_p.L764L	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	766	Gln-rich.				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCTGATCTCCCAGCATGGACA	0.443000			T	ETV6	AML								4	97					0	0	0.000602214	0	0
SCGB1D1	10648	broad.mit.edu	37	11	61959682	61959682	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:61959682C>G	ENST00000306238.3	+	2	279	c.210C>G	c.(208-210)gcC>gcG	p.A70A		NM_006552.1	NP_006543.1	O95968	SG1D1_HUMAN	secretoglobin, family 1D, member 1	70						extracellular space	binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	9						ATACGATGGCCTATGAGAAAA	0.448000													4	100					0	0	3.59834e-05	0	0
RBMX	27316	broad.mit.edu	37	X	135958762	135958762	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:135958762G>C	ENST00000562646.1	-	5	595	c.441C>G	c.(439-441)ctC>ctG	p.L147L	RBMX_ENST00000320676.7_Silent_p.L147L|RBMX_ENST00000565438.1_Silent_p.L19L|RBMX_ENST00000570135.1_Silent_p.L12L|RBMX_ENST00000431446.3_Intron			P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	147						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TTTTTACTGGGAGTGGTCCCC	0.448000													4	248					0	0	0.00024832	0	0
OVGP1	5016	broad.mit.edu	37	1	111965597	111965597	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:111965597C>G	ENST00000369732.3	-	6	615	c.560G>C	c.(559-561)gGg>gCg	p.G187A	OVGP1_ENST00000540696.1_Missense_Mutation_p.G127A|OVGP1_ENST00000481495.1_5'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	187					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GTGTGGGACCCCAGAAACAGC	0.547000													5	125					0	0	8.12818e-05	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47560260	47560260	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:47560260G>A	ENST00000334194.3	+	7	798	c.795G>A	c.(793-795)aaG>aaA	p.K265K		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	265						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						AGGACCGGAAGGAGTCTCTTA	0.368000													6	67					0	0	0.000157383	0	0
CATSPER2	117155	broad.mit.edu	37	15	43940247	43940247	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:43940247G>T	ENST00000396879.1	-	3	125	c.13C>A	c.(13-15)Caa>Aaa	p.Q5K	STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000464721.1_Intron|CATSPER2_ENST00000355438.2_Missense_Mutation_p.Q5K|CATSPER2_ENST00000354127.4_Missense_Mutation_p.Q5K|CATSPER2_ENST00000381761.1_Missense_Mutation_p.Q11K|CATSPER2_ENST00000321596.5_Missense_Mutation_p.Q5K			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	5					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TCTTCTTGTTGGTAAGCGGCC	0.488000													9	338					3.45872e-05	0.000585782	0.000422831	1	0
TXNDC16	57544	broad.mit.edu	37	14	52906028	52906028	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:52906028C>A	ENST00000281741.4	-	20	2459	c.2088G>T	c.(2086-2088)ctG>ctT	p.L696L	TXNDC16_ENST00000554399.1_5'UTR	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	696					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					CACCTGAATGCAGATTCACCA	0.423000													5	46					3.59834e-05	0.000600898	3.59834e-05	1	0
NUMA1	4926	broad.mit.edu	37	11	71735361	71735361	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:71735361G>C	ENST00000393695.3	-	5	498	c.167C>G	c.(166-168)cCg>cGg	p.P56R	NUMA1_ENST00000351960.6_Missense_Mutation_p.P56R|NUMA1_ENST00000358965.6_Missense_Mutation_p.P56R	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	56					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTCTGACACCGGCTGCTTCAA	0.483000			T	RARA	APL								5	145					0	0	0.000157383	0	0
OR6C6	283365	broad.mit.edu	37	12	55688833	55688833	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:55688833G>A	ENST00000358433.2	-	1	183	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GAGAAATTACGGAGAAAGAAA	0.388000													4	32					0	0	0.00024832	0	0
HOXA9	3205	broad.mit.edu	37	7	27205056	27205056	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:27205056C>G	ENST00000343483.6	-	1	93	c.21G>C	c.(19-21)ctG>ctC	p.L7L	HOXA9_ENST00000497089.1_Intron|RP1-170O19.20_ENST00000465941.1_Intron|HOXA9_ENST00000396345.1_Silent_p.L7L|RP1-170O19.20_ENST00000470747.4_Intron	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	7							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						AGTAGTTGCCCAGGGCCCCAG	0.672000			T	"""NUP98, MSI2"""	AML*								3	15					0	0	0.000602214	0	0
CASK	8573	broad.mit.edu	37	X	41390397	41390397	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:41390397G>T	ENST00000318588.9	-	25	2413	c.2368C>A	c.(2368-2370)Caa>Aaa	p.Q790K	CASK_ENST00000378163.1_Missense_Mutation_p.Q795K|CASK_ENST00000361962.4_Missense_Mutation_p.Q778K|CASK_ENST00000442742.2_Missense_Mutation_p.Q767K|CASK_ENST00000421587.2_Missense_Mutation_p.Q766K|CASK_ENST00000378158.1_Missense_Mutation_p.Q778K|CASK_ENST00000378166.4_Missense_Mutation_p.Q790K			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	795	Guanylate kinase-like.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						TGCATCATTTGGTCATGAGAT	0.438000													10	183					2.31682e-05	0.000393952	0.000308642	1	0
DISP1	84976	broad.mit.edu	37	1	223176655	223176655	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:223176655C>A	ENST00000284476.6	+	8	2080	c.1916C>A	c.(1915-1917)aCa>aAa	p.T639K		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	639	SSD.				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TATGCGGGGACAGCTATATTG	0.428000													10	484					1.08611e-07	2.0528e-06	6.40141e-05	1	0
TRIP10	9322	broad.mit.edu	37	19	6741257	6741257	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:6741257G>T	ENST00000313244.9	+	3	197	c.162G>T	c.(160-162)ctG>ctT	p.L54L	TRIP10_ENST00000600428.1_5'UTR|TRIP10_ENST00000596758.1_Silent_p.L54L|TRIP10_ENST00000596543.1_3'UTR|TRIP10_ENST00000313285.8_Silent_p.L54L			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	54	FCH.|Induction of membrane tubulation.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						AAAAATATCTGCCCAAGAGAC	0.612000													4	29					0.000157383	0.00236471	0.000157383	1	0
NIPAL3	57185	broad.mit.edu	37	1	24795475	24795475	+	Splice_Site	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:24795475G>C	ENST00000003912.3	+	13	1490		c.e13-1		NIPAL3_ENST00000374399.4_Splice_Site			Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3							integral to membrane				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						TTTCATTTCAGGTATGCAGAA	0.458000													4	90					0	0	3.59834e-05	0	0
POLE	5426	broad.mit.edu	37	12	133220476	133220476	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:133220476C>T	ENST00000320574.5	-	33	4280	c.4237G>A	c.(4237-4239)Gag>Aag	p.E1413K	POLE_ENST00000535270.1_Missense_Mutation_p.E1386K	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1413					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|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	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GCGTTGATCTCGTTGATGTGT	0.547000								DNA polymerases (catalytic subunits)					7	100					0	0	8.12818e-05	0	0
SND1	27044	broad.mit.edu	37	7	127484453	127484453	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:127484453G>T	ENST00000354725.3	+	12	1513	c.1319G>T	c.(1318-1320)tGt>tTt	p.C440F		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	440	TNase-like 3.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						GAGCGTACCTGTGCCACTGTC	0.488000													4	45					3.59834e-05	0.000600898	3.59834e-05	1	0
LAX1	54900	broad.mit.edu	37	1	203740494	203740494	+	Splice_Site	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:203740494G>C	ENST00000442561.2	+	3	589		c.e3-1		LAX1_ENST00000367215.1_Splice_Site|LAX1_ENST00000367217.5_Splice_Site	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1						B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding	p.?(1)		central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TTGCCTTGCAGGACAAGTTCC	0.507000													5	288					0	0	8.12818e-05	0	0
HEBP2	23593	broad.mit.edu	37	6	138734093	138734093	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:138734093G>T	ENST00000607197.1	+	4	773	c.496G>T	c.(496-498)Gga>Tga	p.G166*	HEBP2_ENST00000448741.1_3'UTR|HEBP2_ENST00000367697.3_3'UTR	NM_014320.2	NP_055135.1	Q9Y5Z4	HEBP2_HUMAN	heme binding protein 2	166						mitochondrion				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(32;0.0933)			GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)		AAGGGAAGATGGAAAAGTTTT	0.353000													8	203					1.12685e-05	0.000195397	0.000274275	1	0
HPS1	3257	broad.mit.edu	37	10	100189578	100189578	+	Silent	SNP	C	C	G	rs139937548		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:100189578C>G	ENST00000325103.6	-	9	1070	c.837G>C	c.(835-837)acG>acC	p.T279T	HPS1_ENST00000467246.1_Intron|HPS1_ENST00000338546.5_Silent_p.T279T|HPS1_ENST00000361490.4_Silent_p.T279T	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	279					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CAGTTGGGCCCGTGGAGTGAG	0.687000									Hermansky-Pudlak syndrome				4	108					0	0	3.59834e-05	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11855314	11855314	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:11855314C>A	ENST00000396516.2	-	18	2464	c.2267G>T	c.(2266-2268)tGg>tTg	p.W756L	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.W756L			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	756						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						GATGTTCATCCACTTCTTACG	0.383000													10	295					5.50884e-06	9.71621e-05	0.00010058	1	0
TSIX	9383	broad.mit.edu	37	X	73046538	73046538	+	RNA	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:73046538G>T	ENST00000604411.1	+	0	34499				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TCTGGGTCATGGGCCTCCAGA	0.488000													7	169					0.000673444	0.0084606	0.000673444	1	0
MADD	8567	broad.mit.edu	37	11	47308052	47308052	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:47308052C>G	ENST00000342922.4	+	15	2977	c.2620C>G	c.(2620-2622)Cga>Gga	p.R874G	MADD_ENST00000395344.3_Missense_Mutation_p.R831G|MADD_ENST00000402799.1_Missense_Mutation_p.R831G|MADD_ENST00000395336.3_Missense_Mutation_p.R874G|MADD_ENST00000407859.3_Missense_Mutation_p.R831G|MADD_ENST00000311027.5_Missense_Mutation_p.R874G|MADD_ENST00000349238.3_Missense_Mutation_p.R874G|MADD_ENST00000406482.1_Missense_Mutation_p.R831G|MADD_ENST00000402192.2_Missense_Mutation_p.R874G	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	874					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CAAAGGTGCCCGAGAGAAGGC	0.547000													5	107					0	0	3.59834e-05	0	0
GALNT10	55568	broad.mit.edu	37	5	153765879	153765879	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:153765879C>G	ENST00000297107.6	+	7	1082	c.945C>G	c.(943-945)ccC>ccG	p.P315P	GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000425427.2_Silent_p.P315P|GALNT10_ENST00000377661.2_Silent_p.P253P|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	315	Catalytic subdomain B.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.P315P(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			ACAGGTCTCCCGTGATGGCCG	0.582000													4	148					0	0	0.000157383	0	0
BRCA2	675	broad.mit.edu	37	13	32914451	32914451	+	Missense_Mutation	SNP	C	C	G	rs80358828		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:32914451C>G	ENST00000544455.1	+	11	6186	c.5959C>G	c.(5959-5961)Cag>Gag	p.Q1987E	BRCA2_ENST00000380152.3_Missense_Mutation_p.Q1987E	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1987					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAATCTGTCCAGGTATCAGA	0.348000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			7	172					0	0	0.000274275	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62688029	62688029	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:62688029C>G	ENST00000281156.4	-	4	703	c.425G>C	c.(424-426)gGg>gCg	p.G142A		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		ATAAGCTTCCCCAGGTGGAGC	0.388000													4	87					0	0	8.12818e-05	0	0
PARP6	56965	broad.mit.edu	37	15	72554019	72554019	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:72554019C>A	ENST00000569795.1	-	9	1112	c.425G>T	c.(424-426)tGg>tTg	p.W142L	PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000287196.9_Missense_Mutation_p.W142L|PARP6_ENST00000260376.7_Missense_Mutation_p.W142L			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	142							NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CAGATGTTTCCATTGTTGGGA	0.463000													12	245					0.000422831	0.00584094	0.000422831	1	0
TRPC7	57113	broad.mit.edu	37	5	135587525	135587525	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:135587525C>G	ENST00000513104.1	-	6	1673	c.1391G>C	c.(1390-1392)cGg>cCg	p.R464P	TRPC7_ENST00000426057.2_Missense_Mutation_p.R348P|TRPC7_ENST00000355180.3_Missense_Mutation_p.R403P	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	464					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CACGTACTCCCGTGGCCCCTC	0.547000													4	56					0	0	0.000157383	0	0
MED7	9443	broad.mit.edu	37	5	156565997	156565997	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:156565997G>T	ENST00000286317.5	-	2	827	c.446C>A	c.(445-447)aCa>aAa	p.T149K	MED7_ENST00000420343.1_Missense_Mutation_p.T149K	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	mediator complex subunit 7	149					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTCTCAGCTGTTTCAAGCCG	0.433000													9	524					0.000151284	0.00236471	0.000151284	1	0
MUC17	140453	broad.mit.edu	37	7	100683337	100683337	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:100683337G>C	ENST00000306151.4	+	3	8704	c.8640G>C	c.(8638-8640)ccG>ccC	p.P2880P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2880	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P2880P(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCACCACGCCGGTGGCCAGTT	0.488000													5	258					0	0	8.12818e-05	0	0
SORT1	6272	broad.mit.edu	37	1	109869673	109869673	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:109869673C>G	ENST00000256637.6	-	13	1642	c.1584G>C	c.(1582-1584)ctG>ctC	p.L528L	SORT1_ENST00000538502.1_Silent_p.L391L	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	528					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		CTCCAGAATCCAGGATGGTGT	0.488000													5	249					0	0	3.59834e-05	0	0
CPT1A	1374	broad.mit.edu	37	11	68527091	68527091	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:68527091C>G	ENST00000265641.5	-	18	2335	c.2181G>C	c.(2179-2181)gtG>gtC	p.V727V	CPT1A_ENST00000376618.2_Silent_p.V727V|CPT1A_ENST00000539743.1_Silent_p.V727V|CPT1A_ENST00000540367.1_Silent_p.V727V	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	727					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GGTTCTCTCCCACAAGGATGT	0.428000													4	106					0	0	3.59834e-05	0	0
TRBC2	28638	broad.mit.edu	37	7	142499645	142499645	+	RNA	SNP	G	G	C	rs1126990		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:142499645G>C	ENST00000466254.1	+	0	405																											CTTCACCTCCGGTAAGTGAGT	0.507000													6	381					0	0	8.12818e-05	0	0
USP32	84669	broad.mit.edu	37	17	58343354	58343354	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:58343354G>C	ENST00000300896.4	-	8	1104	c.910C>G	c.(910-912)Cgc>Ggc	p.R304G	USP32_ENST00000393003.3_Missense_Mutation_p.R304G	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	304					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TCATCAGTGCGGTTGTCCTTC	0.393000													4	127					0	0	0.00024832	0	0
LINC00969	440993	broad.mit.edu	37	3	195400795	195400795	+	RNA	SNP	C	C	T	rs7615357	by1000genomes	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:195400795C>T	ENST00000445430.1	+	0	1391																											GGGGCAAACTCGCTGTTGGAC	0.592000													5	37					0	0	0.000157383	0	0
MEI1	150365	broad.mit.edu	37	22	42159315	42159315	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:42159315C>A	ENST00000401548.3	+	19	2298	c.2258C>A	c.(2257-2259)aCa>aAa	p.T753K	MEI1_ENST00000400107.1_Missense_Mutation_p.T121K|MEI1_ENST00000540880.1_Missense_Mutation_p.T71K|MEI1_ENST00000540833.1_Missense_Mutation_p.T493K|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	753							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AAAGACAATACACTACGTGAG	0.522000											OREG0026596	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	83					0.000442599	0.00584094	0.000442599	1	0
KDM5B	10765	broad.mit.edu	37	1	202698864	202698864	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:202698864C>A	ENST00000367265.3	-	26	5632	c.4468G>T	c.(4468-4470)Gtg>Ttg	p.V1490L	KDM5B_ENST00000367264.2_Missense_Mutation_p.V1526L	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1490					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AGGCAGCTCACAGCTGGGCAG	0.502000													6	91					0.000274275	0.0038898	0.000274275	1	0
NEO1	4756	broad.mit.edu	37	15	73409065	73409065	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:73409065G>A	ENST00000339362.5	+	3	762	c.315G>A	c.(313-315)ccG>ccA	p.P105P	NEO1_ENST00000560262.1_Silent_p.P105P|NEO1_ENST00000261908.6_Silent_p.P105P|NEO1_ENST00000558964.1_Silent_p.P105P			Q92859	NEO1_HUMAN	neogenin 1	105	Ig-like C2-type 1.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						AGCTTCTCCCGGATGGATCTT	0.383000													14	167					0	0	0.000219431	0	0
PPP1R3D	5509	broad.mit.edu	37	20	58514630	58514630	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:58514630G>A	ENST00000370996.3	-	1	722	c.357C>T	c.(355-357)ttC>ttT	p.F119F	FAM217B_ENST00000358293.3_Intron	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	119					glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			CTCCCGCGTTGAACACCTTGA	0.706000													7	26					0	0	8.12818e-05	0	0
SCN10A	6336	broad.mit.edu	37	3	38753713	38753713	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:38753713C>A	ENST00000449082.2	-	22	4027	c.4028G>T	c.(4027-4029)tGg>tTg	p.W1343L		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1343					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CACATTGACCCAGAAGAAGCT	0.428000													6	111					5.18039e-06	9.2077e-05	0.000157383	1	0
HNF1A	6927	broad.mit.edu	37	12	121416718	121416718	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:121416718C>T	ENST00000257555.6	+	1	373	c.147C>T	c.(145-147)tcC>tcT	p.S49S	HNF1A_ENST00000538626.1_Intron|HNF1A-AS1_ENST00000535301.1_RNA|HNF1A-AS1_ENST00000537361.1_RNA|HNF1A_ENST00000543427.1_Intron|HNF1A_ENST00000402929.1_Silent_p.S49S|HNF1A_ENST00000541395.1_Silent_p.S49S|HNF1A_ENST00000400024.2_Silent_p.S49S|HNF1A_ENST00000544413.1_Silent_p.S49S|HNF1A-AS1_ENST00000433033.2_RNA			P20823	HNF1A_HUMAN	HNF1 homeobox A	49					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.D45fs*9(1)|p.D45fs*102(1)|p.?(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGGGGGAGTCCTGCGGCGGCG	0.682000									Hepatic Adenoma, Familial Clustering of				12	198					0	0	0.000219431	0	0
COL28A1	340267	broad.mit.edu	37	7	7410409	7410409	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:7410409C>A	ENST00000399429.3	-	33	3153	c.3013G>T	c.(3013-3015)Ggg>Tgg	p.G1005W		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	1005					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		AGTTCTTCCCCTGACATCCCA	0.373000													7	113					0.000274275	0.0038898	0.000274275	1	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657583	72657583	+	RNA	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:72657583C>T	ENST00000425256.1	-	0	2328					NR_002164.1																						tgtcgatcttcgtggagaacg	0.498000													15	143					0	0	0.000375601	0	0
PRKDC	5591	broad.mit.edu	37	8	48817490	48817490	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:48817490C>G	ENST00000314191.2	-	26	3037	c.2981G>C	c.(2980-2982)tGg>tCg	p.W994S	PRKDC_ENST00000338368.3_Missense_Mutation_p.W994S|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	994					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GTTAGTGAACCAGTGAATCAG	0.363000								Non-homologous end-joining					5	166					0	0	0.000602214	0	0
SLC37A2	219855	broad.mit.edu	37	11	124953734	124953734	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:124953734G>C	ENST00000403796.2	+	11	1301	c.1000G>C	c.(1000-1002)Ggg>Cgg	p.G334R	SLC37A2_ENST00000298280.5_Missense_Mutation_p.G334R|SLC37A2_ENST00000407458.1_Missense_Mutation_p.G334R|SLC37A2_ENST00000308074.4_Missense_Mutation_p.G334R|SLC37A2_ENST00000525837.1_3'UTR	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	334					carbohydrate transport|transmembrane transport	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		CAAGGAGGCTGGGGACCTGTC	0.562000													4	67					0	0	0.00024832	0	0
C2orf16	84226	broad.mit.edu	37	2	27804462	27804462	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:27804462C>A	ENST00000408964.2	+	1	5074	c.5023C>A	c.(5023-5025)Cag>Aag	p.Q1675K		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1675	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAGTCCCTCCCAGAGGAGCCA	0.572000													7	150					3.86212e-05	0.000638159	0.000673444	1	0
MAGI3	260425	broad.mit.edu	37	1	114216058	114216058	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:114216058G>C	ENST00000369615.1	+	19	3222	c.3160G>C	c.(3160-3162)Ggt>Cgt	p.G1054R	MAGI3_ENST00000307546.9_Missense_Mutation_p.G1054R|MAGI3_ENST00000369617.4_Missense_Mutation_p.G1079R|MAGI3_ENST00000369611.4_Missense_Mutation_p.G1054R	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1079	PDZ 6.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCTGAAGATGGTCCTGCCAT	0.488000													4	173					0	0	3.59834e-05	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14976709	14976709	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:14976709G>T	ENST00000453695.2	-	7	614	c.170C>A	c.(169-171)cCa>cAa	p.P57Q	DCLRE1C_ENST00000396817.2_Missense_Mutation_p.P57Q|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.P62Q|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.P57Q|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.P57Q|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.P57Q|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.P177Q|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.P62Q|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.P62Q|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.P177Q	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	177					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						TACCCGACTTGGAATTTGGTA	0.408000								Non-homologous end-joining					8	177					0.000673444	0.0084606	0.000673444	1	0
ARF4	378	broad.mit.edu	37	3	57570189	57570189	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:57570189C>A	ENST00000303436.6	-	2	337	c.70G>T	c.(70-72)Gga>Tga	p.G24*	ARF4_ENST00000493378.1_5'UTR|ARF4_ENST00000496292.1_Intron|ARF4_ENST00000489843.1_Intron	NM_001660.3	NP_001651.1	P18085	ARF4_HUMAN	ADP-ribosylation factor 4	24					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus	GTP binding|GTPase activity			large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561)		GCATCCAATCCAACTAGAAGA	0.348000													9	223					6.40141e-05	0.00104902	6.40141e-05	1	0
PIGA	5277	broad.mit.edu	37	X	15342953	15342953	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:15342953G>T	ENST00000333590.4	-	5	1106	c.1022C>A	c.(1021-1023)cCa>cAa	p.P341Q	PIGA_ENST00000542278.1_Missense_Mutation_p.P107Q|PIGA_ENST00000428964.1_Missense_Mutation_p.P26Q|PIGA_ENST00000482148.1_5'UTR	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	341					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					AAGGTTTTCTGGAAGCACCTC	0.388000													8	167					0.000157383	0.00236471	0.000157383	1	0
OR8D2	283160	broad.mit.edu	37	11	124190019	124190019	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:124190019C>A	ENST00000357438.2	-	1	165	c.75G>T	c.(73-75)ctG>ctT	p.L25L		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		GGAAGAGTGGCAGTTGAAGTT	0.453000													6	84					1.06961e-07	2.02547e-06	0.000157383	1	0
TBC1D2B	23102	broad.mit.edu	37	15	78317735	78317735	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:78317735C>A	ENST00000409931.3	-	5	1023	c.952G>T	c.(952-954)Ggt>Tgt	p.G318C	TBC1D2B_ENST00000300584.3_Missense_Mutation_p.G318C			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	318						intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GAAGGGTCACCACTGCTGTGA	0.522000													6	86					0.000442599	0.00584094	0.000442599	1	0
MEAF6	64769	broad.mit.edu	37	1	37975111	37975111	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:37975111C>G	ENST00000373075.2	-	3	255	c.239G>C	c.(238-240)cGg>cCg	p.R80P	MEAF6_ENST00000448519.2_Missense_Mutation_p.R80P|MEAF6_ENST00000373073.4_Missense_Mutation_p.R80P|MEAF6_ENST00000475828.1_5'UTR|MEAF6_ENST00000373074.1_Missense_Mutation_p.R58P|MEAF6_ENST00000296214.5_Missense_Mutation_p.R80P	NM_022756.4	NP_073593.2	Q9HAF1	EAF6_HUMAN	MYST/Esa1-associated factor 6	80					histone H2A acetylation|histone H3-K14 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|NuA4 histone acetyltransferase complex|nucleolus	protein binding	p.R80L(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						CTTAAACTTCCGGTTCCTTCG	0.473000													5	192					0	0	3.59834e-05	0	0
FLG2	388698	broad.mit.edu	37	1	152325490	152325490	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:152325490C>G	ENST00000388718.5	-	3	4844	c.4772G>C	c.(4771-4773)aGa>aCa	p.R1591T	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1591							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGTGTGGTCTGTGTGAGCC	0.507000													4	185					0	0	0.00024832	0	0
ATP2A3	489	broad.mit.edu	37	17	3856676	3856676	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:3856676C>A	ENST00000309890.7	-	3	334	c.184G>T	c.(184-186)Gtg>Ttg	p.V62L	ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000352011.3_Missense_Mutation_p.V62L|ATP2A3_ENST00000397035.3_Missense_Mutation_p.V62L|ATP2A3_ENST00000397043.3_Missense_Mutation_p.V62L|ATP2A3_ENST00000397041.3_Missense_Mutation_p.V62L|ATP2A3_ENST00000359983.3_Missense_Mutation_p.V62L	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	62					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	p.V62M(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		AGGATGCGCACCAGGAGGTCC	0.647000													5	66					6.5536e-12	1.29102e-10	0.000157383	1	0
RBPMS	11030	broad.mit.edu	37	8	30407052	30407052	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:30407052C>A	ENST00000287771.5	+	7	1130	c.564C>A	c.(562-564)ccC>ccA	p.P188P	RBPMS_ENST00000538486.1_Intron|RBPMS_ENST00000397323.4_Intron|RBPMS_ENST00000320203.4_Intron	NM_001008711.1	NP_001008711.1	Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing	0					positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		GAAGCCACCCCTTGAGCGCTC	0.512000													6	92					0.000157383	0.00236471	0.000157383	1	0
DIAPH3	81624	broad.mit.edu	37	13	60582691	60582691	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:60582691G>T	ENST00000400324.4	-	9	1221	c.1001C>A	c.(1000-1002)tCa>tAa	p.S334*	DIAPH3_ENST00000400330.1_Nonsense_Mutation_p.S334*|DIAPH3_ENST00000400319.1_Nonsense_Mutation_p.S264*|DIAPH3_ENST00000267215.4_Nonsense_Mutation_p.S334*|DIAPH3_ENST00000377908.2_Nonsense_Mutation_p.S323*|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Nonsense_Mutation_p.S288*	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	334	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CAGTTGAACTGAATTGTGCCG	0.308000													9	167					0.000274275	0.0038898	0.000274275	1	0
IRF1	3659	broad.mit.edu	37	5	131825157	131825157	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:131825157C>A	ENST00000245414.4	-	2	272	c.14G>T	c.(13-15)cGg>cTg	p.R5L	IRF1_ENST00000463784.1_Intron|IRF1_ENST00000405885.2_Missense_Mutation_p.R5L	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	5				R -> W (in Ref. 1; no nucleotide entry and 2; no nucleotide entry).	blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		CATGCGCATCCGAGTGATGGG	0.502000													4	57					3.59834e-05	0.000600898	3.59834e-05	1	0
BAZ2A	11176	broad.mit.edu	37	12	57003918	57003918	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:57003918C>A	ENST00000179765.5	-	10	1970	c.1771G>T	c.(1771-1773)Gaa>Taa	p.E591*	BAZ2A_ENST00000549884.1_Nonsense_Mutation_p.E621*|BAZ2A_ENST00000551812.1_Nonsense_Mutation_p.E623*|BAZ2A_ENST00000379441.3_Nonsense_Mutation_p.E593*			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	623	MBD.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TCTCTTTCTTCAAAGAAATCT	0.512000													7	112					0.000274275	0.0038898	0.000274275	1	0
ABCA9	10350	broad.mit.edu	37	17	66981227	66981227	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:66981227G>C	ENST00000340001.4	-	33	4462	c.4251C>G	c.(4249-4251)ccC>ccG	p.P1417P	ABCA9_ENST00000370732.2_Silent_p.P1417P|ABCA9_ENST00000453985.2_Silent_p.P1379P	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1417	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AGGTCTTCACGGGAGCCTTCA	0.532000													4	82					0	0	0.00024832	0	0
CKS1B	1163	broad.mit.edu	37	1	154950478	154950478	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:154950478C>A	ENST00000368439.1	+	2	276	c.27C>A	c.(25-27)ccC>ccA	p.P9P	CKS1B_ENST00000368436.1_Silent_p.P25P|CKS1B_ENST00000308987.5_Silent_p.P25P|CKS1B_ENST00000471245.1_3'UTR			P61024	CKS1_HUMAN	CDC28 protein kinase regulatory subunit 1B	25					cell division|cell proliferation|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	nucleoplasm	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|large_intestine(1)|lung(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCATGCTGCCCAAGGACATAG	0.453000													7	79					3.09899e-07	5.78755e-06	0.000274275	1	0
IL4R	3566	broad.mit.edu	37	16	27373701	27373701	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:27373701C>G	ENST00000395762.2	+	11	1287	c.1028C>G	c.(1027-1029)cCa>cGa	p.P343R	IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000170630.2_Missense_Mutation_p.P343R|IL4R_ENST00000380922.3_Missense_Mutation_p.P328R|IL4R_ENST00000543915.2_Missense_Mutation_p.P343R	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	343					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GCATGGTGCCCAGTGGAGATC	0.547000													5	117					0	0	8.12818e-05	0	0
TXNDC11	51061	broad.mit.edu	37	16	11830038	11830038	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:11830038G>A	ENST00000356957.3	-	2	413	c.306C>T	c.(304-306)tcC>tcT	p.S102S	TXNDC11_ENST00000283033.5_Silent_p.S102S			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	102	Thioredoxin 1.				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GAGACCTCAAGGAGAAAAAGC	0.448000													6	45					0	0	3.59834e-05	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130897736	130897736	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:130897736C>A	ENST00000509018.1	-	5	491	c.286G>T	c.(286-288)Ggt>Tgt	p.G96C	RAPGEF6_ENST00000507093.1_Missense_Mutation_p.G96C|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.G96C|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.G96C|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.G96C|RAPGEF6_ENST00000503398.2_Intron|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.G96C|FNIP1_ENST00000514667.1_Missense_Mutation_p.G146C	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	96					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AACTGCTTACCAAAACTATAA	0.289000													8	235					3.86212e-05	0.000638159	0.000673444	1	0
MYL9	10398	broad.mit.edu	37	20	35177614	35177614	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:35177614C>A	ENST00000279022.2	+	4	585	c.481C>A	c.(481-483)Cgc>Agc	p.R161S	RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.11_ENST00000561134.1_RNA|MYL9_ENST00000346786.2_Missense_Mutation_p.R107S	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	161	EF-hand 3.				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GGAGTTCACCCGCATCCTCAA	0.602000													5	49					0.000157383	0.00236471	0.000157383	1	0
NOS2	4843	broad.mit.edu	37	17	26110097	26110097	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:26110097G>T	ENST00000313735.6	-	6	736	c.503C>A	c.(502-504)gCg>gAg	p.A168E		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	168					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CTTTGTTACCGCTTCCACCCT	0.512000													5	100					0.000442599	0.00584094	0.000442599	1	0
FANCG	2189	broad.mit.edu	37	9	35074161	35074161	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:35074161G>A	ENST00000378643.3	-	14	2304	c.1813C>T	c.(1813-1815)Cgt>Tgt	p.R605C	FANCG_ENST00000476212.1_5'UTR	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	605					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AAGGCGTCACGATCAGAGGGA	0.512000			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks					6	89					0	0	0.000442599	0	0
KIF20B	9585	broad.mit.edu	37	10	91498010	91498010	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:91498010C>A	ENST00000416354.1	+	20	3574	c.3502C>A	c.(3502-3504)Caa>Aaa	p.Q1168K	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Missense_Mutation_p.Q1138K|KIF20B_ENST00000260753.4_Missense_Mutation_p.Q1098K|KIF20B_ENST00000371728.3_Missense_Mutation_p.Q1138K			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1138					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TCTTGATGTTCAAATACAGCA	0.333000													7	200					9.70103e-10	1.89354e-08	0.000673444	1	0
CUBN	8029	broad.mit.edu	37	10	17126317	17126317	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:17126317G>C	ENST00000377833.4	-	17	2319	c.2254C>G	c.(2254-2256)Cac>Gac	p.H752D		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	752	CUB 3.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGCTCCACGTGGGTGAAGTTG	0.438000													5	69					0	0	0.000157383	0	0
ZNF786	136051	broad.mit.edu	37	7	148767930	148767930	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:148767930C>G	ENST00000316286.9	-	3	1948	c.1676G>C	c.(1675-1677)gGg>gCg	p.G559A	ZNF786_ENST00000451334.3_Missense_Mutation_p.G608A|ZNF786_ENST00000491431.1_Missense_Mutation_p.G645A			Q8N393	ZN786_HUMAN	zinc finger protein 786	645					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AGGCATCTCCCCGCTGTGCAG	0.592000													4	89					0	0	3.59834e-05	0	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373000													7	386					0	0	8.12818e-05	0	0
IFNW1	3467	broad.mit.edu	37	9	21141504	21141504	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:21141504C>A	ENST00000380229.2	-	1	640	c.66G>T	c.(64-66)ctG>ctT	p.L22L		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	22				LG -> EF (in Ref. 7; AAA70091).	cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GATCACAGCCCAGAGATCCAA	0.527000													6	112					0.000442599	0.00584094	0.000442599	1	0
CCNL2	81669	broad.mit.edu	37	1	1323407	1323407	+	Missense_Mutation	SNP	G	G	C	rs142455256		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:1323407G>C	ENST00000400809.3	-	9	1050	c.1045C>G	c.(1045-1047)Cca>Gca	p.P349A	CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Missense_Mutation_p.P127A	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	349					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		ACAGACAGTGGGGAAGGCTTG	0.542000													5	143					0	0	0.000274275	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6887173	6887173	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:6887173G>T	ENST00000419673.2	+	11	1211	c.994G>T	c.(994-996)Gta>Tta	p.V332L	ARHGAP28_ENST00000400091.2_Missense_Mutation_p.V491L|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.V332L|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.V332L|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.V439L|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.V314L|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.V327L|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.V491L	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	314					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				TCACGTCAAAGTACAGTTTCA	0.498000													4	56					0.000157383	0.00236471	0.000157383	1	0
ZP1	22917	broad.mit.edu	37	11	60637857	60637857	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:60637857C>A	ENST00000278853.5	+	4	735	c.735C>A	c.(733-735)tgC>tgA	p.C245*		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	245	P-type.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						ACCTCCCCTGCATCGTGAGAA	0.547000													4	45					0.000157383	0.00236471	0.000157383	1	0
C9orf41	138199	broad.mit.edu	37	9	77611470	77611470	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:77611470C>A	ENST00000376834.3	-	6	1069	c.917G>T	c.(916-918)tGg>tTg	p.W306L	C9orf41_ENST00000376837.3_3'UTR	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	306								p.W306L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						AATACAGTCCCAGGTATCTAA	0.303000													7	110					5.18039e-06	9.2077e-05	0.000157383	1	0
KLHL12	59349	broad.mit.edu	37	1	202862510	202862510	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:202862510C>A	ENST00000367261.3	-	11	1655	c.1437G>T	c.(1435-1437)ggG>ggT	p.G479G	KLHL12_ENST00000435533.3_Silent_p.G517G|KLHL12_ENST00000367259.1_Intron	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	479	Interaction with DVL3.				Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			CATCAAATCCCCCCACCACAT	0.453000													9	135					3.86212e-05	0.000638159	0.000673444	1	0
RECK	8434	broad.mit.edu	37	9	36118755	36118755	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:36118755C>T	ENST00000377966.3	+	18	2821	c.2253_splice	c.e18-1	p.P752_splice		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	752	Kazal-like 2.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TGCCCTCAGCCCTTTTGCAGA	0.498000													4	51					0	0	0.00024832	0	0
PDIA3	2923	broad.mit.edu	37	15	44053650	44053650	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:44053650G>A	ENST00000300289.5	+	4	541	c.393G>A	c.(391-393)caG>caA	p.Q131Q	PDIA3_ENST00000538521.1_Silent_p.Q111Q	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	131	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		TGAAGAAGCAGGCAGGACCAG	0.343000													44	185					0	0	0.000781405	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11873127	11873127	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:11873127C>G	ENST00000396516.2	-	3	398	c.201G>C	c.(199-201)acG>acC	p.T67T	ZC3H7A_ENST00000355758.4_Silent_p.T67T|ZC3H7A_ENST00000575170.1_5'UTR			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	67						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						TCAAGGCTTCCGTGTACTGGC	0.328000													5	318					0	0	8.12818e-05	0	0
DGKI	9162	broad.mit.edu	37	7	137082151	137082151	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:137082151C>G	ENST00000453654.1	-	31	2499	c.1960G>C	c.(1960-1962)Gag>Cag	p.E654Q	DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000424189.2_Missense_Mutation_p.E998Q|DGKI_ENST00000288490.5_Missense_Mutation_p.E985Q|DGKI_ENST00000446122.1_Missense_Mutation_p.E967Q			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	985					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.E985K(1)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TCCAATAACTCGGAAGGTCCT	0.338000													4	164					0	0	0.00024832	0	0
RFWD2	64326	broad.mit.edu	37	1	176015348	176015348	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:176015348C>A	ENST00000367669.3	-	12	1904	c.1390G>T	c.(1390-1392)Gag>Tag	p.E464*	RFWD2_ENST00000308769.8_Nonsense_Mutation_p.E440*	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	464					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ATTTCATTCTCAGGGTAATGA	0.348000													8	228					0.000673444	0.0084606	0.000673444	1	0
GPSM2	29899	broad.mit.edu	37	1	109466653	109466653	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:109466653G>C	ENST00000406462.1	+	15	2405	c.1632G>C	c.(1630-1632)acG>acC	p.T544T	GPSM2_ENST00000264126.3_Silent_p.T544T|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	544	GoLoco 2.				G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		CCCCCAACACGGATGAGTTTT	0.413000													6	323					0	0	0.000274275	0	0
SIGLECL1	284369	broad.mit.edu	37	19	51769092	51769092	+	Silent	SNP	G	G	C	rs74462590	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:51769092G>C	ENST00000316401.7	+	4	747	c.366G>C	c.(364-366)gcG>gcC	p.A122A	SIGLECL1_ENST00000597824.1_Silent_p.A28A|CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000593968.1_3'UTR	NM_173635.1	NP_775906.1			SIGLEC family like 1																		CTATCTATGCGGGAATTGTAA	0.547000													4	185					0	0	3.59834e-05	0	0
OSBPL10	114884	broad.mit.edu	37	3	31789433	31789433	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:31789433C>G	ENST00000396556.2	-	5	1031	c.909G>C	c.(907-909)gcG>gcC	p.A303A	OSBPL10_ENST00000438237.2_Silent_p.A239A|OSBPL10_ENST00000467647.1_5'UTR	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	303					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TGGGCTGGCCCGCCTGGTGCA	0.607000													4	113					0	0	3.59834e-05	0	0
APOB	338	broad.mit.edu	37	2	21228855	21228855	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:21228855G>C	ENST00000233242.1	-	26	11012	c.10885C>G	c.(10885-10887)Cag>Gag	p.Q3629E		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3629					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTGATCTTCTGGTTCTTAGTG	0.483000													4	183					0	0	3.59834e-05	0	0
ECSIT	51295	broad.mit.edu	37	19	11624031	11624031	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:11624031G>C	ENST00000270517.7	-	4	713	c.578C>G	c.(577-579)cCc>cGc	p.P193R	ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000591104.1_Missense_Mutation_p.P193R|ECSIT_ENST00000592312.1_Missense_Mutation_p.P77R|ECSIT_ENST00000252440.7_Missense_Mutation_p.P193R|ECSIT_ENST00000417981.2_Intron|ECSIT_ENST00000591352.1_Intron	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	193					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						CTTGAGCATGGGGTAGCTTTT	0.582000													4	82					0	0	0.00024832	0	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158549	26158549	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:26158549C>A	ENST00000289316.2	+	1	176	c.152C>A	c.(151-153)cCc>cAc	p.P51H	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.P51H	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	51					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						CAGGTCCATCCCGACACCGGC	0.567000													8	229					0.000442599	0.00584094	0.000442599	1	0
ATM	472	broad.mit.edu	37	11	108115601	108115601	+	Missense_Mutation	SNP	G	G	C	rs56123940		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:108115601G>C	ENST00000278616.4	+	7	1134	c.749G>C	c.(748-750)cGa>cCa	p.R250P	ATM_ENST00000452508.2_Missense_Mutation_p.R250P	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	250			R -> Q.		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTTCGAATTCGAGTGTGTGAA	0.338000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			4	151					0	0	0.00024832	0	0
TPTE2	93492	broad.mit.edu	37	13	20056686	20056686	+	Splice_Site	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:20056686T>C	ENST00000400230.2	-	4	165	c.119_splice	c.e4-1	p.M41_splice	TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Splice_Site_p.M41_splice|TPTE2_ENST00000382978.1_Splice_Site_p.M41_splice|TPTE2_ENST00000400103.2_Splice_Site_p.M41_splice|TPTE2_ENST00000382977.4_Splice_Site_p.M41_splice|TPTE2_ENST00000382975.4_Splice_Site_p.M41_splice			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	41						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTTCTAACATACTTTAGCCA	0.313000													7	147					0	0	0.000274275	0	0
EP400	57634	broad.mit.edu	37	12	132490681	132490681	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:132490681G>C	ENST00000333577.4	+	15	3177	c.3068G>C	c.(3067-3069)aGg>aCg	p.R1023T	EP400_ENST00000389562.2_Missense_Mutation_p.R986T|EP400_ENST00000389561.2_Missense_Mutation_p.R987T|EP400_ENST00000330386.6_Missense_Mutation_p.R987T|EP400_ENST00000332482.4_Missense_Mutation_p.R950T			Q96L91	EP400_HUMAN	E1A binding protein p400	1023	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCAGGCGACAGGGAGAGTCGC	0.458000													5	46					0	0	3.59834e-05	0	0
GRIK3	2899	broad.mit.edu	37	1	37356694	37356694	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:37356694C>T	ENST00000373091.3	-	2	135	c.119G>A	c.(118-120)gGa>gAa	p.G40E	GRIK3_ENST00000373093.4_Missense_Mutation_p.G40E	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	40					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CTCGAAGATTCCTCCTGTGAA	0.498000													25	95					0	0	0.00047179	0	0
COL6A3	1293	broad.mit.edu	37	2	238245005	238245005	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:238245005G>A	ENST00000295550.4	-	40	9190	c.8738C>T	c.(8737-8739)gCc>gTc	p.A2913V	COL6A3_ENST00000353578.4_Missense_Mutation_p.A2707V|COL6A3_ENST00000409809.1_Missense_Mutation_p.A2707V|COL6A3_ENST00000347401.3_Missense_Mutation_p.A2712V|COL6A3_ENST00000346358.4_Missense_Mutation_p.A2713V|COL6A3_ENST00000472056.1_Missense_Mutation_p.A2306V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2913	Ala-rich.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTTCGCAGGGGCCGGCTTTGC	0.572000													6	162					0	0	3.59834e-05	0	0
MYO5C	55930	broad.mit.edu	37	15	52487585	52487585	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:52487585G>C	ENST00000261839.7	-	40	5226	c.5065C>G	c.(5065-5067)Cgc>Ggc	p.R1689G	RP11-430B1.2_ENST00000560518.1_lincRNA	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1689	Dilute.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TGTACTTTGCGAACAAAGGAT	0.348000													4	95					0	0	3.59834e-05	0	0
MAP3K10	4294	broad.mit.edu	37	19	40711082	40711082	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:40711082G>C	ENST00000253055.3	+	4	1355	c.1067G>C	c.(1066-1068)cGg>cCg	p.R356P		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	356	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						ATCTTGAAGCGGCTTGAAGTC	0.577000													4	89					0	0	0.00024832	0	0
PANK2	80025	broad.mit.edu	37	20	3899433	3899433	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:3899433C>A	ENST00000497424.1	+	6	1090	c.779C>A	c.(778-780)tCg>tAg	p.S260*	PANK2_ENST00000336066.3_3'UTR|PANK2_ENST00000316562.4_Nonsense_Mutation_p.S551*	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	551					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GCACTTTTTTCGGAACACGAG	0.443000													7	289					0.000274275	0.0038898	0.000274275	1	0
CUL5	8065	broad.mit.edu	37	11	107966389	107966389	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:107966389C>G	ENST00000393094.2	+	16	2492	c.1876C>G	c.(1876-1878)Cct>Gct	p.P626A		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	626					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		AACTGAACTCCCTGATGCTGA	0.388000													6	144					0	0	0.000442599	0	0
LANCL2	55915	broad.mit.edu	37	7	55467671	55467671	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:55467671G>C	ENST00000254770.2	+	4	1130	c.552G>C	c.(550-552)tcG>tcC	p.S184S	LANCL2_ENST00000486376.1_3'UTR	NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	184					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			TCCAGAGATCGGTTGTCTGCC	0.428000													4	176					0	0	3.59834e-05	0	0
NUP153	9972	broad.mit.edu	37	6	17649455	17649455	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:17649455G>A	ENST00000262077.2	-	12	1471	c.1472C>T	c.(1471-1473)tCc>tTc	p.S491F	NUP153_ENST00000537253.1_Missense_Mutation_p.S522F	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	491					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GATCTCAGGGGAACTAAAATT	0.373000													11	106					0	0	0.000151284	0	0
NXF4	55999	broad.mit.edu	37	X	101818151	101818151	+	RNA	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:101818151G>T	ENST00000360035.2	+	0	741					NR_002216.1															endometrium(2)|lung(8)	10						CTGAACAAATGATATGATGTC	0.537000													7	171					0.000673444	0.0084606	0.000673444	1	0
OSBPL8	114882	broad.mit.edu	37	12	76791602	76791602	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:76791602G>T	ENST00000261183.3	-	8	1023	c.544C>A	c.(544-546)Caa>Aaa	p.Q182K	OSBPL8_ENST00000393250.4_Missense_Mutation_p.Q140K|OSBPL8_ENST00000393249.2_Missense_Mutation_p.Q140K	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	182	PH.				lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						CCATTTTTTTGGGTTTTATAG	0.378000													6	55					3.59834e-05	0.000600898	3.59834e-05	1	0
GRID2	2895	broad.mit.edu	37	4	94316791	94316791	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:94316791G>A	ENST00000282020.4	+	9	1537	c.1279G>A	c.(1279-1281)Ggg>Agg	p.G427R	GRID2_ENST00000510992.1_Missense_Mutation_p.G332R	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	427					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AGGTCTGAATGGGTCACTGAC	0.433000													4	48					0	0	3.59834e-05	0	0
CDKAL1	54901	broad.mit.edu	37	6	21231231	21231231	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:21231231G>T	ENST00000274695.4	+	16	1868	c.1701G>T	c.(1699-1701)ctG>ctT	p.L567L	CDKAL1_ENST00000476517.1_3'UTR|CDKAL1_ENST00000378624.4_Silent_p.L476L|CDKAL1_ENST00000378610.1_Silent_p.L567L	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	567					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TGGCTCTGCTGGGTCTTCTTT	0.413000													12	343					3.45872e-05	0.000585782	0.000422831	1	0
USP33	23032	broad.mit.edu	37	1	78204952	78204952	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:78204952G>C	ENST00000370793.1	-	6	788	c.442C>G	c.(442-444)Cag>Gag	p.Q148E	USP33_ENST00000357428.1_Missense_Mutation_p.Q148E|USP33_ENST00000370794.3_Missense_Mutation_p.Q117E|USP33_ENST00000370792.3_Missense_Mutation_p.Q148E	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	148					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						ATTATTACCTGGACACTGTTT	0.348000													5	182					0	0	0.000274275	0	0
GRM8	2918	broad.mit.edu	37	7	126882950	126882950	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:126882950G>A	ENST00000339582.2	-	2	1117	c.309C>T	c.(307-309)ctC>ctT	p.L103L	GRM8_ENST00000444921.2_Silent_p.L103L|GRM8_ENST00000358373.3_Silent_p.L103L|GRM8_ENST00000405249.1_Silent_p.L103L			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	103					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGCACGTGTCGAGGATGCGGA	0.478000										HNSCC(24;0.065)			6	44					0	0	3.59834e-05	0	0
NEFH	4744	broad.mit.edu	37	22	29885826	29885826	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:29885826C>G	ENST00000310624.6	+	4	2230	c.2197C>G	c.(2197-2199)Ccc>Gcc	p.P733A		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	739	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament		p.P733T(1)		cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGCAAAGACCCCCGAGAAGGC	0.547000													4	152					0	0	0.00024832	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202275	140202275	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:140202275G>A	ENST00000529859.1	+	1	915	c.915G>A	c.(913-915)ggG>ggA	p.G305G	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Silent_p.G305G|PCDHA5_ENST00000529619.1_Silent_p.G305G|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGTTAACGGGGAACTGGATT	0.294000													17	129					0	0	0.000422831	0	0
RIPK4	54101	broad.mit.edu	37	21	43161475	43161475	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:43161475C>A	ENST00000352483.2	-	9	2086	c.2022G>T	c.(2020-2022)ctG>ctT	p.L674L	RIPK4_ENST00000542057.1_Silent_p.L563L|RIPK4_ENST00000544709.1_Silent_p.L563L|RIPK4_ENST00000332512.3_Silent_p.L626L			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	626						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CGTCGGAGCACAGGTCGATGA	0.692000													6	89					0.000673444	0.0084606	0.000673444	1	0
IGF2BP2	10644	broad.mit.edu	37	3	185364868	185364868	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:185364868G>T	ENST00000382199.2	-	15	1747	c.1652C>A	c.(1651-1653)cCa>cAa	p.P551Q	IGF2BP2_ENST00000421047.2_Missense_Mutation_p.P494Q|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.P508Q|IGF2BP2_ENST00000457616.2_Missense_Mutation_p.P557Q	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	551	KH 4.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			ATTTTCATCTGGCGTTTGGTC	0.512000													10	381					6.31663e-08	1.20765e-06	0.000308642	1	0
NCF2	4688	broad.mit.edu	37	1	183529292	183529292	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:183529292C>T	ENST00000413720.1	-	13	1546	c.1272G>A	c.(1270-1272)gaG>gaA	p.E424E	NCF2_ENST00000418089.1_Silent_p.E388E|NCF2_ENST00000367535.3_Silent_p.E469E|NCF2_ENST00000367536.1_Silent_p.E469E	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	469	OPR.				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						GTTGGGTAGCCTCATAACTGA	0.438000													57	167					0	0	0.000781405	0	0
EPS8L3	79574	broad.mit.edu	37	1	110300621	110300621	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:110300621G>C	ENST00000369805.3	-	9	1009	c.780C>G	c.(778-780)gcC>gcG	p.A260A	EPS8L3_ENST00000361965.4_Silent_p.A259A|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Silent_p.A259A	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	259						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		TCTTTGCCTGGGCCTTCTCCA	0.542000													4	119					0	0	3.59834e-05	0	0
F13A1	2162	broad.mit.edu	37	6	6197499	6197499	+	Silent	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:6197499T>C	ENST00000264870.3	-	9	1438	c.1173A>G	c.(1171-1173)ggA>ggG	p.G391G		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	391					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CTTGCCAGCCTCCAAATCCAA	0.478000													4	83					0	0	3.59834e-05	0	0
FRAS1	80144	broad.mit.edu	37	4	79403057	79403057	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:79403057C>A	ENST00000264895.6	+	57	8983	c.8543C>A	c.(8542-8544)cCa>cAa	p.P2848Q		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2843	Calx-beta 3.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCTGCCACACCAGGAGTTGAC	0.537000													6	90					0.000157383	0.00236471	0.000157383	1	0
C16orf70	80262	broad.mit.edu	37	16	67154077	67154077	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:67154077C>G	ENST00000219139.3	+	2	315	c.127C>G	c.(127-129)Cag>Gag	p.Q43E	C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Missense_Mutation_p.Q43E	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	43										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		CAAAAACGTCCAGGTTCTCTA	0.463000													4	142					0	0	0.000602214	0	0
GRHL1	29841	broad.mit.edu	37	2	10126376	10126376	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:10126376G>C	ENST00000324907.9	+	9	1371	c.1235G>C	c.(1234-1236)cGg>cCg	p.R412P	GRHL1_ENST00000405379.2_Missense_Mutation_p.R412P|GRHL1_ENST00000324883.5_Missense_Mutation_p.R223P	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	412					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		CCTGTGCACCGGGCCTACTGC	0.488000													4	175					0	0	0.000157383	0	0
CPE	1363	broad.mit.edu	37	4	166388881	166388881	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:166388881C>T	ENST00000402744.4	+	3	826	c.546C>T	c.(544-546)gcC>gcT	p.A182A		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	182					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAAGCAATGCCCAGGGAATAG	0.378000													8	43					0	0	0.000157383	0	0
OR5M1	390168	broad.mit.edu	37	11	56380402	56380402	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:56380402G>C	ENST00000526538.1	-	1	576	c.577C>G	c.(577-579)Cgt>Ggt	p.R193G		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TTTTTGACACGGGTGTCAGAG	0.433000													4	76					0	0	0.000157383	0	0
CABYR	26256	broad.mit.edu	37	18	21739546	21739546	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:21739546G>C	ENST00000399496.3	+	5	817	c.652G>C	c.(652-654)Ggg>Cgg	p.G218R	CABYR_ENST00000399499.1_Missense_Mutation_p.G218R|CABYR_ENST00000415309.2_Intron|CABYR_ENST00000581397.1_Missense_Mutation_p.G218R|CABYR_ENST00000327201.6_Missense_Mutation_p.G120R|RP11-799B12.4_ENST00000583267.1_lincRNA|CABYR_ENST00000399481.2_3'UTR	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	470					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					ACCTGCACCTGGGCCTTTTCC	0.468000													4	121					0	0	3.59834e-05	0	0
CHMP3	51652	broad.mit.edu	37	2	86756387	86756387	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:86756387G>T	ENST00000263856.4	-	3	368	c.240C>A	c.(238-240)tcC>tcA	p.S80S	RNF103-CHMP3_ENST00000604011.1_Silent_p.S109S|CHMP3_ENST00000409727.1_Intron|CHMP3_ENST00000409225.2_Silent_p.S14S|CHMP3_ENST00000439940.2_Silent_p.S109S	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1			charged multivesicular body protein 3																		TGTGTGCTTTGGATGCATACA	0.498000													8	65					0.000442599	0.00584094	0.000442599	1	0
AADACL4	343066	broad.mit.edu	37	1	12726682	12726682	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:12726682C>T	ENST00000376221.1	+	4	1160	c.1160C>T	c.(1159-1161)gCt>gTt	p.A387V		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	387						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GATAAGAAGGCTCTCTCTTTC	0.478000													10	132					0	0	0.000442599	0	0
MRPL22	29093	broad.mit.edu	37	5	154339539	154339539	+	Splice_Site	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:154339539G>T	ENST00000523037.1	+	6	380		c.e6-1		MRPL22_ENST00000518364.1_Splice_Site|MRPL22_ENST00000439747.3_Splice_Site|MRPL22_ENST00000522038.1_Splice_Site|MRPL22_ENST00000265229.8_Splice_Site	NM_014180.3	NP_054899.2	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22						translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCTTATTTAAGGTTCTCTTAG	0.318000													6	102					0.000442599	0.00584094	0.000442599	1	0
ATAD2B	54454	broad.mit.edu	37	2	24090767	24090767	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:24090767G>T	ENST00000238789.5	-	10	1469	c.1126C>A	c.(1126-1128)Cga>Aga	p.R376R		NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	376							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTCGTTCTCGGAGAATACCG	0.343000													11	230					1.49906e-05	0.000258586	0.000219431	1	0
OR3A1	4994	broad.mit.edu	37	17	3195183	3195183	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:3195183G>A	ENST00000323404.1	-	1	693	c.694C>T	c.(694-696)Cgc>Tgc	p.R232C	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R232C(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TCTACAGAGCGAATTCGCAGG	0.493000													12	50					0	0	0.00010058	0	0
POLB	5423	broad.mit.edu	37	8	42220189	42220189	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:42220189C>G	ENST00000265421.4	+	11	851	c.681C>G	c.(679-681)acC>acG	p.T227T	POLB_ENST00000538005.1_Silent_p.T73T	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	227					DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	TCACAGATACCCTGTCAAAGG	0.363000								DNA polymerases (catalytic subunits)					4	72					0	0	3.59834e-05	0	0
CDK13	8621	broad.mit.edu	37	7	40134525	40134525	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:40134525G>C	ENST00000181839.4	+	14	5090	c.4485G>C	c.(4483-4485)agG>agC	p.R1495S	CDK13_ENST00000340829.5_Missense_Mutation_p.R1435S	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1495					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AAGGATACAGGGGACATATTA	0.478000													6	109					0	0	0.000442599	0	0
OR5B3	441608	broad.mit.edu	37	11	58170461	58170461	+	Missense_Mutation	SNP	C	C	G	rs115594096	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:58170461C>G	ENST00000309403.2	-	1	421	c.422G>C	c.(421-423)cGt>cCt	p.R141P		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TATGGCCAGACGAGCACACAC	0.493000													3	64					0	0	0.00024832	0	0
DCAF16	54876	broad.mit.edu	37	4	17805544	17805544	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:17805544C>G	ENST00000382247.1	-	3	1281	c.221G>C	c.(220-222)tGg>tCg	p.W74S	DCAF16_ENST00000536863.1_Missense_Mutation_p.W74S	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	74						CUL4 RING ubiquitin ligase complex				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						ATGATACAACCAGGAATTAGG	0.433000													4	131					0	0	0.00024832	0	0
DDX6	1656	broad.mit.edu	37	11	118635982	118635982	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:118635982G>T	ENST00000264018.4	-	6	886	c.581C>A	c.(580-582)gCc>gAc	p.A194D	DDX6_ENST00000534980.1_Missense_Mutation_p.A194D|DDX6_ENST00000526070.2_Missense_Mutation_p.A194D	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	194	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		CATCACTTTGGCCCCTCCCAT	0.433000			T	IGH@	B-NHL								9	292					1.5842e-08	3.05422e-07	0.000151284	1	0
KLHL18	23276	broad.mit.edu	37	3	47376274	47376274	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:47376274G>A	ENST00000232766.5	+	6	883	c.863G>A	c.(862-864)gGa>gAa	p.G288E	KLHL18_ENST00000455924.2_Missense_Mutation_p.G176E	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	288										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		TCCATCGCTGGACTTATCTAC	0.587000													8	27					0	0	0.000442599	0	0
IL15RA	3601	broad.mit.edu	37	10	6002336	6002336	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:6002336G>A	ENST00000525219.2	-	4	763	c.469C>T	c.(469-471)Ccg>Tcg	p.P157S	IL15RA_ENST00000397250.2_Missense_Mutation_p.P95S|IL15RA_ENST00000397251.3_Missense_Mutation_p.P128S|IL15RA_ENST00000530685.1_Missense_Mutation_p.P160S|IL15RA_ENST00000397255.3_Missense_Mutation_p.P193S|IL15RA_ENST00000379977.3_Missense_Mutation_p.P193S|IL15RA_ENST00000528354.1_Missense_Mutation_p.P160S|IL15RA_ENST00000379971.1_Missense_Mutation_p.P95S|IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000397248.2_Missense_Mutation_p.P157S	NM_001243539.1	NP_001230468.1	Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha	193					cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						TAACCTGGCGGCTGGTGGGAG	0.577000													20	92					0	0	0.000586117	0	0
FKBP6	8468	broad.mit.edu	37	7	72745679	72745679	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:72745679C>T	ENST00000252037.4	+	5	557	c.488C>T	c.(487-489)cCa>cTa	p.P163L	FKBP6_ENST00000413573.2_Missense_Mutation_p.P133L|FKBP6_ENST00000431982.2_Missense_Mutation_p.P158L	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	163					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				GACCAATTTCCACTTCAGAAG	0.468000													25	108					0	0	0.00047179	0	0
LRFN5	145581	broad.mit.edu	37	14	42360868	42360868	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:42360868C>G	ENST00000298119.4	+	4	2990	c.1801C>G	c.(1801-1803)Cag>Gag	p.Q601E	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	601						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AGAGAATGCCCAGTGTTGTAA	0.483000										HNSCC(30;0.082)			4	79					0	0	0.000157383	0	0
SMARCA4	6597	broad.mit.edu	37	19	11138481	11138481	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:11138481G>C	ENST00000358026.2	+	24	3521	c.3237G>C	c.(3235-3237)tcG>tcC	p.S1079S	SMARCA4_ENST00000429416.3_Silent_p.S1079S|SMARCA4_ENST00000344626.4_Silent_p.S1079S|SMARCA4_ENST00000590574.1_Silent_p.S1079S|SMARCA4_ENST00000589677.1_Silent_p.S1079S|SMARCA4_ENST00000450717.3_Silent_p.S1079S|SMARCA4_ENST00000413806.3_Silent_p.S1079S|SMARCA4_ENST00000541122.2_Silent_p.S1079S|SMARCA4_ENST00000444061.3_Silent_p.S1079S	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1079					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(2)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ACCGAGCCTCGGGTAAATTTG	0.537000			"""F, N, Mis"""		NSCLC								5	129					0	0	8.12818e-05	0	0
CTR9	9646	broad.mit.edu	37	11	10776717	10776717	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:10776717G>T	ENST00000361367.2	+	3	783	c.357G>T	c.(355-357)atG>atT	p.M119I		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	119					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TGTATACAATGGCCGATAAAA	0.343000													8	179					0.000442599	0.00584094	0.000442599	1	0
NDUFS1	4719	broad.mit.edu	37	2	206991549	206991549	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:206991549G>T	ENST00000233190.5	-	17	2170	c.1904C>A	c.(1903-1905)cCa>cAa	p.P635Q	NDUFS1_ENST00000423725.1_Missense_Mutation_p.P578Q|NDUFS1_ENST00000455934.2_Missense_Mutation_p.P649Q|NDUFS1_ENST00000457011.1_Missense_Mutation_p.P519Q|NDUFS1_ENST00000449699.1_Missense_Mutation_p.P635Q|NDUFS1_ENST00000432169.1_Missense_Mutation_p.P524Q|NDUFS1_ENST00000440274.1_Missense_Mutation_p.P599Q	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	635					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	AGTATCATATGGAAGAGTCAT	0.343000													10	198					7.07596e-05	0.00115765	0.00074312	1	0
SLC35A5	55032	broad.mit.edu	37	3	112299693	112299693	+	Silent	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:112299693T>C	ENST00000492406.1	+	6	1012	c.729T>C	c.(727-729)tcT>tcC	p.S243S	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	243						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						GTTTTATTTCTTCAATGGCTA	0.398000													3	91					0	0	6.4e-05	0	0
HHIPL2	79802	broad.mit.edu	37	1	222696000	222696000	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:222696000G>T	ENST00000343410.6	-	9	2176	c.2118C>A	c.(2116-2118)caC>caA	p.H706Q	HHIPL2_ENST00000473144.1_5'UTR	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	706					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TCCTGCCACTGTGGCTTTTCA	0.577000													10	411					2.61681e-11	5.13464e-10	0.000219431	1	0
KCTD8	386617	broad.mit.edu	37	4	44177177	44177177	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:44177177G>A	ENST00000360029.3	-	2	1335	c.1052C>T	c.(1051-1053)tCc>tTc	p.S351F		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	351						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CTCATTACAGGAAGTCCCACT	0.468000										HNSCC(17;0.042)			12	66					0	0	0.00010058	0	0
NEK2	4751	broad.mit.edu	37	1	211846961	211846961	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:211846961C>A	ENST00000366999.4	-	3	557	c.419G>T	c.(418-420)cGg>cTg	p.R140L	NEK2_ENST00000540251.1_Missense_Mutation_p.R97L|NEK2_ENST00000366998.3_Missense_Mutation_p.R140L	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	140	Protein kinase.				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity	p.R140L(1)		breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		TTTCAGATCCCGATGCAATAC	0.453000													5	142					0.000157383	0.00236471	0.000157383	1	0
FRYL	285527	broad.mit.edu	37	4	48588675	48588675	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:48588675C>G	ENST00000537810.1	-	19	2315	c.1711G>C	c.(1711-1713)Ggt>Cgt	p.G571R	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000506685.1_Missense_Mutation_p.G277R|FRYL_ENST00000503238.1_Missense_Mutation_p.G571R|FRYL_ENST00000507711.1_Missense_Mutation_p.G571R|FRYL_ENST00000358350.4_Missense_Mutation_p.G571R			O94915	FRYL_HUMAN	FRY-like	571					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTGCTCATACCGTCAGGAATC	0.338000													4	99					0	0	3.59834e-05	0	0
AZIN1	51582	broad.mit.edu	37	8	103842067	103842067	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:103842067G>C	ENST00000337198.5	-	10	2165	c.1002C>G	c.(1000-1002)acC>acG	p.T334T	AZIN1_ENST00000347770.4_Silent_p.T334T	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	334					polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			CCTCTGGAATGGTATTTAAGT	0.348000													4	108					0	0	0.00024832	0	0
FLG	2312	broad.mit.edu	37	1	152283856	152283856	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:152283856G>C	ENST00000368799.1	-	3	3541	c.3506C>G	c.(3505-3507)cCg>cGg	p.P1169R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1169	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTTGACCCCGGGTGTGCACG	0.597000									Ichthyosis				6	232					0	0	6.40141e-05	0	0
MUC16	94025	broad.mit.edu	37	19	8976756	8976756	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:8976756C>T	ENST00000397910.4	-	73	42513	c.42310G>A	c.(42310-42312)Ggg>Agg	p.G14104R	MUC16_ENST00000596956.1_5'UTR|MUC16_ENST00000380951.5_Missense_Mutation_p.G745R	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14135	SEA 14.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAAGGACCCCCTCGGTGGAG	0.562000													10	60					0	0	6.40141e-05	0	0
GID4	79018	broad.mit.edu	37	17	17965254	17965254	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:17965254C>A	ENST00000268719.4	+	5	977	c.804C>A	c.(802-804)tcC>tcA	p.S268S		NM_024052.4	NP_076957.3			GID complex subunit 4																		CAGCAGCCTCCATAGAGGGCT	0.542000													8	141					5.50884e-06	9.71621e-05	0.00010058	1	0
GPR124	25960	broad.mit.edu	37	8	37688264	37688264	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:37688264C>G	ENST00000315215.7	+	7	1118	c.755C>G	c.(754-756)cCg>cGg	p.P252R	GPR124_ENST00000412232.2_Missense_Mutation_p.P252R			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	252	Ig-like.				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CACCTCATCCCGTCCCTACGC	0.652000													4	7					0	0	3.59834e-05	0	0
NAV3	89795	broad.mit.edu	37	12	78592398	78592398	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:78592398G>C	ENST00000397909.2	+	36	6633	c.6460G>C	c.(6460-6462)Gga>Cga	p.G2154R	NAV3_ENST00000266692.7_Missense_Mutation_p.G1955R|NAV3_ENST00000228327.6_Missense_Mutation_p.G2132R|NAV3_ENST00000536525.2_Missense_Mutation_p.G2132R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2154						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATATATTATTGGAACAATGAA	0.269000										HNSCC(70;0.22)			5	81					0	0	0.000274275	0	0
LARP1B	55132	broad.mit.edu	37	4	129127673	129127673	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:129127673C>A	ENST00000326639.6	+	18	2611	c.2400C>A	c.(2398-2400)acC>acA	p.T800T	LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000264584.5_Silent_p.T741T|LARP1B_ENST00000354456.3_Silent_p.T219T|LARP1B_ENST00000441387.1_Intron	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	800							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						AAGAAGAAACCAAAAAAGACT	0.338000													6	144					0.000157383	0.00236471	0.000157383	1	0
HCAR2	338442	broad.mit.edu	37	12	123187411	123187411	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:123187411G>A	ENST00000328880.5	-	1	479	c.420C>T	c.(418-420)tcC>tcT	p.S140S	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	140					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	CTGTCCGATTGGAGATCTTGT	0.567000													27	83					0	0	0.000147802	0	0
C5orf15	56951	broad.mit.edu	37	5	133304218	133304218	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:133304218C>G	ENST00000231512.3	-	1	260	c.58G>C	c.(58-60)Ggg>Cgg	p.G20R	C5orf15_ENST00000507191.1_5'UTR	NM_020199.2	NP_064584.1	Q8NC54	KCT2_HUMAN	chromosome 5 open reading frame 15	20						integral to membrane				endometrium(2)|large_intestine(1)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			ATGGCCGACCCGGGCAGCAGT	0.672000													4	18					0	0	3.59834e-05	0	0
DCHS2	54798	broad.mit.edu	37	4	155157769	155157769	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:155157769G>C	ENST00000357232.3	-	25	6669	c.6670C>G	c.(6670-6672)Cct>Gct	p.P2224A		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2224	Cadherin 20.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTCCCTAGAGGGGTGCTTTCC	0.468000													4	68					0	0	0.00024832	0	0
GSTA1	2938	broad.mit.edu	37	6	52661085	52661085	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:52661085G>T	ENST00000334575.5	-	4	322	c.167C>A	c.(166-168)cCa>cAa	p.P56Q	GSTA1_ENST00000493331.1_Intron	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	56	GST N-terminal.			PMV -> AML (in Ref. 3; AAA36174).	glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	CTCAACCATTGGCACTTGCTG	0.418000													7	111					3.07112e-06	5.5112e-05	6.40141e-05	1	0
PTBP3	9991	broad.mit.edu	37	9	114989824	114989824	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:114989824G>T	ENST00000334318.6	-	13	1510	c.1324C>A	c.(1324-1326)Cga>Aga	p.R442R	PTBP3_ENST00000374255.2_Silent_p.R439R|PTBP3_ENST00000343327.2_Silent_p.R344R|PTBP3_ENST00000458258.1_Silent_p.R445R|PTBP3_ENST00000374257.1_Silent_p.R411R	NM_001163790.2|NM_005156.6	NP_001157262.1|NP_005147.3	O95758	ROD1_HUMAN	polypyrimidine tract binding protein 3	439					anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding										TGTCCCTCTCGAGGAAGCTGT	0.443000													6	81					5.18039e-06	9.2077e-05	0.000157383	1	0
TMEM65	157378	broad.mit.edu	37	8	125343007	125343007	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:125343007G>C	ENST00000297632.6	-	2	865	c.331C>G	c.(331-333)Cca>Gca	p.P111A		NM_194291.2	NP_919267.2	Q6PI78	TMM65_HUMAN	transmembrane protein 65	111						integral to membrane				cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	6	Lung NSC(37;1.18e-11)|Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AGCTGTCCTGGGGTGGGTGGT	0.358000													4	76					0	0	0.000157383	0	0
KCNB2	9312	broad.mit.edu	37	8	73850317	73850317	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:73850317C>G	ENST00000523207.1	+	3	3315	c.2727C>G	c.(2725-2727)acC>acG	p.T909T		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	909					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CACGTGAAACCAGCATGTGAC	0.368000													4	98					0	0	3.59834e-05	0	0
OSBPL3	26031	broad.mit.edu	37	7	24911640	24911640	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:24911640G>C	ENST00000313367.2	-	3	596	c.145C>G	c.(145-147)Cag>Gag	p.Q49E	OSBPL3_ENST00000353930.1_Missense_Mutation_p.Q49E|OSBPL3_ENST00000396429.1_Missense_Mutation_p.Q49E|OSBPL3_ENST00000409069.1_Missense_Mutation_p.Q49E|OSBPL3_ENST00000396431.1_Missense_Mutation_p.Q49E|OSBPL3_ENST00000352860.1_Missense_Mutation_p.Q49E|OSBPL3_ENST00000431825.2_Missense_Mutation_p.Q49E	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	49					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GGTGGCTCCTGGGTGTAATTC	0.438000													4	74					0	0	3.59834e-05	0	0
NIPAL4	348938	broad.mit.edu	37	5	156899403	156899403	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:156899403C>A	ENST00000311946.7	+	6	952	c.836C>A	c.(835-837)cCa>cAa	p.P279Q	NIPAL4_ENST00000435489.2_Missense_Mutation_p.P260Q|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	279						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						GTCATTGCCCCACGTTACGGG	0.527000											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	206					4.3838e-07	8.16657e-06	0.000151284	1	0
PCDHB2	56133	broad.mit.edu	37	5	140476430	140476430	+	Missense_Mutation	SNP	G	G	A	rs61742377	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:140476430G>A	ENST00000194155.4	+	1	2204	c.2056G>A	c.(2056-2058)Gac>Aac	p.D686N		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		686					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)			GGCCCAGGCCGACTTGCTCAC	0.697000													26	184					0	0	0.000184323	0	0
TSSK4	283629	broad.mit.edu	37	14	24676586	24676586	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:24676586G>C	ENST00000339917.5	+	3	909	c.705G>C	c.(703-705)atG>atC	p.M235I	TM9SF1_ENST00000556387.1_Intron|TM9SF1_ENST00000530611.1_Intron|TSSK4_ENST00000556621.1_Missense_Mutation_p.M149I|TSSK4_ENST00000287913.6_Missense_Mutation_p.M225I|TSSK4_ENST00000428351.2_Intron	NM_001184739.1|NM_174944.3	NP_001171668.1|NP_777604.2	Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	225	Protein kinase.				cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		CCTGGAGCATGGGCGTCATCC	0.527000													4	102					0	0	0.000602214	0	0
PHACTR1	221692	broad.mit.edu	37	6	12718979	12718979	+	Translation_Start_Site	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:12718979G>T	ENST00000379350.1	+	2	132	c.3G>T	c.(1-3)atG>atT	p.M1I	PHACTR1_ENST00000332995.7_Start_Codon_SNP_p.M1I|PHACTR1_ENST00000379348.2_Start_Codon_SNP_p.M1I			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	1						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CATCAAGGATGGATTATCCCA	0.373000													9	267					4.68919e-08	8.97658e-07	0.000673444	1	0
AP4B1	10717	broad.mit.edu	37	1	114438931	114438931	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:114438931G>C	ENST00000369569.1	-	8	1739	c.1459C>G	c.(1459-1461)Cga>Gga	p.R487G	AP4B1_ENST00000369567.1_Missense_Mutation_p.R319G|AP4B1_ENST00000256658.4_Missense_Mutation_p.R487G|AP4B1_ENST00000462591.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	487					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAGCAGGTCGGGAGAGGAAA	0.443000													4	137					0	0	0.00024832	0	0
GAS2L1	10634	broad.mit.edu	37	22	29704305	29704305	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:29704305C>T	ENST00000471961.1	+	1	1258	c.210C>T	c.(208-210)acC>acT	p.T70T	GAS2L1_ENST00000407647.2_Silent_p.T70T|GAS2L1_ENST00000341313.6_Silent_p.T70T|GAS2L1_ENST00000406549.3_Silent_p.T70T|GAS2L1_ENST00000403764.1_Silent_p.T70T|GAS2L1_ENST00000407854.1_Silent_p.T70T|GAS2L1_ENST00000360113.2_Silent_p.T70T			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	70	CH.				cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						ACGCCGTGACCGAGGCTGCCC	0.687000													3	12					0	0	6.4e-05	0	0
ABCC9	10060	broad.mit.edu	37	12	22059062	22059062	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:22059062G>C	ENST00000261200.4	-	10	1615	c.1616C>G	c.(1615-1617)tCc>tGc	p.S539C	ABCC9_ENST00000345162.2_Missense_Mutation_p.S539C|ABCC9_ENST00000261201.4_Missense_Mutation_p.S539C	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	539	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAACTTACTGGAGAGTGATGT	0.373000													4	64					0	0	3.59834e-05	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19666725	19666725	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:19666725G>T	ENST00000284885.3	-	21	2381	c.2348C>A	c.(2347-2349)cCa>cAa	p.P783Q		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	783					proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AACAATCTTTGGGGTGATGTC	0.463000													9	230					7.48243e-07	1.3784e-05	0.000442599	1	0
SMCHD1	23347	broad.mit.edu	37	18	2707643	2707643	+	Splice_Site	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:2707643G>T	ENST00000320876.6	+	16	2484	c.2146_splice	c.e16+1	p.G716_splice	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Splice_Site_p.G716_splice	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	716					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AACCCCTATTGGTATGTTTGT	0.373000													7	143					0.000442599	0.00584094	0.000442599	1	0
POMT1	10585	broad.mit.edu	37	9	134387518	134387518	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:134387518C>G	ENST00000423007.1	+	11	1519	c.1077C>G	c.(1075-1077)ccC>ccG	p.P359P	POMT1_ENST00000404875.2_Silent_p.P242P|POMT1_ENST00000402686.3_Silent_p.P359P|POMT1_ENST00000541219.1_Silent_p.P137P|POMT1_ENST00000354713.4_Silent_p.P329P|POMT1_ENST00000341012.7_Silent_p.P305P|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000419118.2_Silent_p.P207P|POMT1_ENST00000372228.3_Silent_p.P381P	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	381	MIR 1.				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TAAAGGATCCCAGGAGGTGAG	0.577000													5	53					0	0	0.000157383	0	0
BICD1	636	broad.mit.edu	37	12	32481205	32481205	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:32481205G>T	ENST00000548411.1	+	5	1997	c.1816G>T	c.(1816-1818)Gcc>Tcc	p.A606S	BICD1_ENST00000281474.5_Missense_Mutation_p.A606S	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	606					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TGTTATTACTGCCCCACCGTC	0.453000													6	200					0.000442599	0.00584094	0.000442599	1	0
ITGA6	3655	broad.mit.edu	37	2	173341207	173341207	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:173341207G>T	ENST00000375221.2	+	10	1674	c.1471G>T	c.(1471-1473)Gtt>Ttt	p.V491F	ITGA6_ENST00000409532.1_Missense_Mutation_p.V333F|ITGA6_ENST00000409080.1_Missense_Mutation_p.V452F|ITGA6_ENST00000343713.4_Missense_Mutation_p.V447F|ITGA6_ENST00000264106.6_Missense_Mutation_p.V491F|ITGA6_ENST00000264107.7_Missense_Mutation_p.V452F			P23229	ITA6_HUMAN	integrin, alpha 6	491					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TGATGTTGCTGTTGGTTCCCT	0.368000													6	101					0.000157383	0.00236471	0.000157383	1	0
ROCK2	9475	broad.mit.edu	37	2	11367472	11367472	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:11367472G>T	ENST00000315872.6	-	6	1224	c.776C>A	c.(775-777)cCt>cAt	p.P259H	ROCK2_ENST00000401753.1_Missense_Mutation_p.P16H	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	259	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CAGAACCTCAGGTGATATATA	0.418000													7	146					0.000673444	0.0084606	0.000673444	1	0
SEC61A2	55176	broad.mit.edu	37	10	12200045	12200045	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:12200045C>G	ENST00000379033.3	+	8	997	c.850C>G	c.(850-852)Cag>Gag	p.Q284E	SEC61A2_ENST00000379020.4_Intron|SEC61A2_ENST00000304267.8_Missense_Mutation_p.Q306E|SEC61A2_ENST00000298428.9_Missense_Mutation_p.Q306E|SEC61A2_ENST00000495368.1_3'UTR	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	306						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				TGTTATTTCCCAGATGCTGTC	0.418000													6	407					0	0	3.59834e-05	0	0
DUOX1	53905	broad.mit.edu	37	15	45426393	45426393	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:45426393C>T	ENST00000321429.4	+	5	600	c.193C>T	c.(193-195)Cag>Tag	p.Q65*	DUOX1_ENST00000389037.3_Nonsense_Mutation_p.Q65*	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	65	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGGCGTGTACCAGCCCTTGGG	0.617000													7	44					0	0	8.12818e-05	0	0
LRRK2	120892	broad.mit.edu	37	12	40697809	40697809	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:40697809G>T	ENST00000298910.7	+	27	3708	c.3650G>T	c.(3649-3651)tGg>tTg	p.W1217L	LRRK2_ENST00000343742.2_Missense_Mutation_p.W1217L	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1217					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CCCGCACACTGGAAATCTTTG	0.373000													6	73					0.000157383	0.00236471	0.000157383	1	0
SKIV2L	6499	broad.mit.edu	37	6	31929687	31929687	+	Splice_Site	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:31929687G>T	ENST00000375394.2	+	10	1033	c.918_splice	c.e10-1	p.W307_splice	SKIV2L_ENST00000544581.1_Splice_Site_p.W114_splice	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	307						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CTCCCATAGTGGGCATTTGAG	0.557000													18	353					5.35047e-06	9.50434e-05	0.00047179	1	0
KBTBD2	25948	broad.mit.edu	37	7	32914609	32914609	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:32914609G>C	ENST00000304056.4	-	3	1030	c.331C>G	c.(331-333)Cta>Gta	p.L111V	AVL9_ENST00000404479.1_Intron|KBTBD2_ENST00000485611.1_5'UTR	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	111										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			CTTACCTGTAGGAAGCAAGCT	0.463000													4	112					0	0	3.59834e-05	0	0
LRRC28	123355	broad.mit.edu	37	15	99828050	99828050	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:99828050G>T	ENST00000301981.3	+	5	519	c.279G>T	c.(277-279)ctG>ctT	p.L93L	LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000559399.1_3'UTR|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000422500.2_Silent_p.L93L|LRRC28_ENST00000442993.2_Silent_p.L93L|LRRC28_ENST00000447360.2_Silent_p.L93L	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	93										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			TCCAATGTCTGGATCTTAGTG	0.373000													9	193					0.000219431	0.00327883	0.000219431	1	0
CYP4A11	1579	broad.mit.edu	37	1	47398483	47398483	+	Silent	SNP	C	C	G	rs9333059	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:47398483C>G	ENST00000310638.4	-	11	1345	c.1314G>C	c.(1312-1314)ccG>ccC	p.P438P	CYP4A11_ENST00000371904.4_Silent_p.P439P|CYP4A11_ENST00000371905.1_Silent_p.P438P|CYP4A11_ENST00000475477.1_5'UTR	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	438					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GAGCAGAACCCGGTGCAAAAC	0.542000													4	246					0	0	0.000673444	0	0
KIDINS220	57498	broad.mit.edu	37	2	8957756	8957756	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:8957756G>T	ENST00000256707.3	-	4	479	c.298C>A	c.(298-300)Cgt>Agt	p.R100S	KIDINS220_ENST00000473731.1_Missense_Mutation_p.R100S|KIDINS220_ENST00000427284.1_Missense_Mutation_p.R100S|KIDINS220_ENST00000418530.1_Missense_Mutation_p.R58S|KIDINS220_ENST00000319688.5_Missense_Mutation_p.R100S	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	100					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		p.R100S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACCATATCACGGTGCTCCAAG	0.328000													6	99					0.000442599	0.00584094	0.000442599	1	0
OR4C11	219429	broad.mit.edu	37	11	55371689	55371689	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:55371689C>T	ENST00000302231.4	-	1	185	c.161G>A	c.(160-162)gGa>gAa	p.G54E		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CATGGGGCTTCCTAGTGTCCG	0.398000													17	71					0	0	0.000566183	0	0
RBL1	5933	broad.mit.edu	37	20	35689582	35689582	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:35689582G>T	ENST00000373664.3	-	9	1240	c.1174C>A	c.(1174-1176)Caa>Aaa	p.Q392K	RBL1_ENST00000344359.3_Missense_Mutation_p.Q392K	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	392	Domain A.|Pocket; binds T and E1A.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CTCACACTTTGGGTGGCTGAT	0.408000													8	75					5.4927e-09	1.06377e-07	0.000274275	1	0
NOM1	64434	broad.mit.edu	37	7	156759009	156759009	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:156759009C>A	ENST00000275820.3	+	8	2094	c.2079C>A	c.(2077-2079)ctC>ctA	p.L693L		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	693	MI.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TTCACGTTCTCATGGATTGCT	0.418000													8	163					0.000673444	0.0084606	0.000673444	1	0
C12orf40	283461	broad.mit.edu	37	12	40076498	40076498	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:40076498G>A	ENST00000324616.5	+	8	926	c.772G>A	c.(772-774)Gac>Aac	p.D258N	C12orf40_ENST00000405531.3_Missense_Mutation_p.D258N|C12orf40_ENST00000398716.1_Missense_Mutation_p.D181N	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	258										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						AAGACAGTCAGACTACATTAC	0.353000													14	80					0	0	0.000422831	0	0
SLC15A2	6565	broad.mit.edu	37	3	121615297	121615297	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:121615297G>C	ENST00000489711.1	+	2	538	c.150G>C	c.(148-150)gtG>gtC	p.V50V	SLC15A2_ENST00000295605.2_Silent_p.V50V	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	50					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	p.V50V(1)		NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	CCTTCATTGTGGTGAATGAAT	0.438000													7	137					0	0	0.000274275	0	0
HEATR1	55127	broad.mit.edu	37	1	236737997	236737997	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:236737997C>G	ENST00000366582.3	-	23	3405	c.3291G>C	c.(3289-3291)gcG>gcC	p.A1097A	HEATR1_ENST00000366581.2_Intron	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1097					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)			TTGGCATTCCCGCGTAAAGTT	0.378000													4	157					0	0	8.12818e-05	0	0
TNXB	7148	broad.mit.edu	37	6	32016340	32016340	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:32016340C>A	ENST00000375244.3	-	29	10046	c.9845G>T	c.(9844-9846)tGg>tTg	p.W3282L	TNXB_ENST00000375247.2_Missense_Mutation_p.W3280L			P22105	TENX_HUMAN	tenascin XB	3327	Fibronectin type-III 24.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCCACCGTCCATGAGAGGCC	0.701000													8	161					1.12685e-05	0.000195397	0.000274275	1	0
LOXL3	84695	broad.mit.edu	37	2	74761311	74761311	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:74761311C>A	ENST00000264094.3	-	12	2063	c.1992G>T	c.(1990-1992)gtG>gtT	p.V664V	LOXL3_ENST00000409549.1_Silent_p.V608V|LOXL3_ENST00000393937.2_Silent_p.V519V|LOXL3_ENST00000409986.1_Silent_p.V519V|LOXL3_ENST00000409249.1_Silent_p.V382V	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	664	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CCCAGCAACCCACAGTGATGC	0.507000													8	83					0.000157383	0.00236471	0.000157383	1	0
SORT1	6272	broad.mit.edu	37	1	109860584	109860584	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:109860584C>A	ENST00000256637.6	-	16	2090	c.2032G>T	c.(2032-2034)Ggc>Tgc	p.G678C	SORT1_ENST00000538502.1_Missense_Mutation_p.G541C	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	678	Interactions with LRPAP1 and NGFB.				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		CGGTAGTAGCCAAAATCACTG	0.463000													8	286					9.70103e-10	1.89354e-08	0.000673444	1	0
CUL4B	8450	broad.mit.edu	37	X	119672015	119672015	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:119672015C>A	ENST00000371322.5	-	14	1963	c.1902G>T	c.(1900-1902)atG>atT	p.M634I	CUL4B_ENST00000404115.3_Missense_Mutation_p.M652I|CUL4B_ENST00000336592.6_Missense_Mutation_p.M639I	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	652					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TAGAAAGTTCCATGTCTTTAA	0.308000													8	214					0.000673444	0.0084606	0.000673444	1	0
ZNF480	147657	broad.mit.edu	37	19	52819203	52819203	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:52819203G>C	ENST00000595962.1	+	4	382	c.316G>C	c.(316-318)Ggt>Cgt	p.G106R	ZNF480_ENST00000334564.7_Intron|ZNF480_ENST00000490272.1_Intron|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Missense_Mutation_p.G29R	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		GTGCATCAAAGGTGTGAACAC	0.423000													4	68					0	0	0.000157383	0	0
NME9	347736	broad.mit.edu	37	3	138033208	138033208	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:138033208G>C	ENST00000383180.2	-	7	480	c.243C>G	c.(241-243)tcC>tcG	p.S81S	NME9_ENST00000484930.1_Silent_p.S79S|NME9_ENST00000333911.3_Silent_p.S142S|NME9_ENST00000341790.5_Silent_p.S79S|NME9_ENST00000317876.4_Silent_p.S81S|NME9_ENST00000536478.1_Silent_p.S81S	NM_178130.2	NP_835231.1	Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	142	Thioredoxin.				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										TCTTTCCATGGGAAACACATT	0.348000													6	439					0	0	3.59834e-05	0	0
PRKCB	5579	broad.mit.edu	37	16	24192138	24192138	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:24192138C>T	ENST00000303531.7	+	13	1574	c.1422C>T	c.(1420-1422)ctC>ctT	p.L474L	PRKCB_ENST00000321728.7_Silent_p.L474L	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	474	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	ACGTGATGCTCGATTCTGAGG	0.428000													17	143					0	0	0.00047179	0	0
TMEM87B	84910	broad.mit.edu	37	2	112854728	112854728	+	Splice_Site	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:112854728G>C	ENST00000283206.4	+	12	1581	c.1213_splice	c.e12+1	p.L404_splice	TMEM87B_ENST00000463427.1_3'UTR	NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	404						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						TTGCTGTGCTGGGTAAGCTAT	0.308000													7	230					0	0	8.12818e-05	0	0
SLC44A5	204962	broad.mit.edu	37	1	75685015	75685015	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:75685015G>A	ENST00000370855.5	-	16	1306	c.1193C>T	c.(1192-1194)tCg>tTg	p.S398L	SLC44A5_ENST00000370859.3_Missense_Mutation_p.S398L|SLC44A5_ENST00000535611.1_Missense_Mutation_p.S268L	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	398						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.S398*(2)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AGGTACCCCCGATGTCGCCAA	0.388000													12	41					0	0	0.000151284	0	0
LGALSL	29094	broad.mit.edu	37	2	64682542	64682542	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:64682542C>G	ENST00000238875.5	+	2	555	c.101C>G	c.(100-102)cCa>cGa	p.P34R	LGALSL_ENST00000409537.2_Missense_Mutation_p.P34R	NM_014181.2	NP_054900.2	Q3ZCW2	LEGL_HUMAN	lectin, galactoside-binding-like	34						intracellular	sugar binding										GTGTACTTCCCACGACTGGTA	0.388000													5	184					0	0	0.000602214	0	0
PTPRA	5786	broad.mit.edu	37	20	2944953	2944953	+	Silent	SNP	C	C	A	rs150442527		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:2944953C>A	ENST00000216877.6	+	4	430	c.30C>A	c.(28-30)ctC>ctA	p.L10L	PTPRA_ENST00000358719.4_5'UTR|PTPRA_ENST00000399903.2_Silent_p.L10L|PTPRA_ENST00000380393.3_Silent_p.L10L|PTPRA_ENST00000318266.5_Silent_p.L10L|PTPRA_ENST00000356147.3_Silent_p.L10L|PTPRA_ENST00000425918.2_Silent_p.L21L	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	10					axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TTGTTCTGCTCGGCAGTGGTC	0.398000													5	155					0.000442599	0.00584094	0.000442599	1	0
VWF	7450	broad.mit.edu	37	12	6090951	6090951	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:6090951C>T	ENST00000261405.5	-	42	7542		c.e42+1			NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor						blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCAGTCCTTACCTTGTCGGGA	0.463000													9	82					0	0	6.40141e-05	0	0
IGHV1-18	28468	broad.mit.edu	37	14	106641665	106641665	+	RNA	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:106641665G>A	ENST00000390605.2	-	0	307																											CTCTGCCCTGGAGCTTCTGTG	0.552000													17	124					0	0	0.000422831	0	0
LPO	4025	broad.mit.edu	37	17	56342160	56342160	+	Nonsense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:56342160C>G	ENST00000262290.4	+	10	1660	c.1344C>G	c.(1342-1344)taC>taG	p.Y448*	LPO_ENST00000582328.1_Nonsense_Mutation_p.Y365*|LPO_ENST00000543544.1_Nonsense_Mutation_p.Y389*|LPO_ENST00000421678.2_Nonsense_Mutation_p.Y365*	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	448					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						ATCAAGGCTACAGTGAATCTG	0.473000													4	75					0	0	0.00024832	0	0
ZMPSTE24	10269	broad.mit.edu	37	1	40737632	40737632	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:40737632G>C	ENST00000372759.3	+	6	859	c.694G>C	c.(694-696)Gga>Cga	p.G232R		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	232						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TCTGCCTGAGGGAAAGCTTAA	0.373000													4	148					0	0	0.000157383	0	0
NR1H3	10062	broad.mit.edu	37	11	47283237	47283237	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:47283237G>C	ENST00000467728.1	+	5	2086	c.848G>C	c.(847-849)cGg>cCg	p.R283P	NR1H3_ENST00000481889.2_Missense_Mutation_p.R238P|NR1H3_ENST00000405576.1_Intron|NR1H3_ENST00000527949.1_Intron|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000407404.1_Intron|NR1H3_ENST00000405853.3_Intron|NR1H3_ENST00000441012.2_Missense_Mutation_p.R283P|NR1H3_ENST00000395397.3_Missense_Mutation_p.R238P			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	283	Ligand-binding (Potential).				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						CAGCTCAGCCGGGAGGACCAG	0.582000													4	81					0	0	3.59834e-05	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11855303	11855303	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:11855303G>C	ENST00000396516.2	-	18	2475	c.2278C>G	c.(2278-2280)Cgt>Ggt	p.R760G	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.R760G			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	760						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						GGGAGAGGACGGATGTTCATC	0.368000													5	326					0	0	8.12818e-05	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47247027	47247027	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:47247027C>T	ENST00000300404.2	+	11	1697	c.1638C>T	c.(1636-1638)ctC>ctT	p.L546L	B4GALNT2_ENST00000393354.2_Silent_p.L486L|B4GALNT2_ENST00000504681.1_Silent_p.L460L	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	546					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CCAACACCCTCACCCGGGTCC	0.542000													10	47					0	0	0.000442599	0	0
MFSD8	256471	broad.mit.edu	37	4	128842793	128842793	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:128842793C>G	ENST00000296468.3	-	12	1363	c.1236G>C	c.(1234-1236)ccG>ccC	p.P412P	MFSD8_ENST00000513559.1_Silent_p.P367P|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	412					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						GATGAATCACCGGGGTGTAGA	0.423000													4	69					0	0	0.00024832	0	0
PSG4	5672	broad.mit.edu	37	19	43697537	43697537	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:43697537C>G	ENST00000405312.3	-	6	1484	c.1247G>C	c.(1246-1248)tGg>tCg	p.W416S	PSG4_ENST00000433626.2_Missense_Mutation_p.W323S|PSG4_ENST00000244295.9_Missense_Mutation_p.W323S	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	416					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				gggtaatatccagtctacagg	0.398000													4	84					0	0	0.000157383	0	0
APOB	338	broad.mit.edu	37	2	21236133	21236133	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:21236133G>A	ENST00000233242.1	-	25	4242	c.4115C>T	c.(4114-4116)tCc>tTc	p.S1372F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1372					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACCACTGTAGGAGGCGGACCA	0.502000													13	229					0	0	0.000219431	0	0
SIGIRR	59307	broad.mit.edu	37	11	407845	407845	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:407845C>A	ENST00000431843.2	-	5	759	c.453G>T	c.(451-453)caG>caT	p.Q151H	SIGIRR_ENST00000531205.1_Missense_Mutation_p.Q151H|SIGIRR_ENST00000332725.3_Missense_Mutation_p.Q151H|SIGIRR_ENST00000529486.1_5'UTR|SIGIRR_ENST00000397632.3_Missense_Mutation_p.Q151H|SIGIRR_ENST00000382520.2_Missense_Mutation_p.Q151H	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	151					acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CATACGCGTCCTGGTACCAGA	0.687000													6	81					0.000442599	0.00584094	0.000442599	1	0
TANGO6	79613	broad.mit.edu	37	16	68912115	68912115	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:68912115C>G	ENST00000261778.1	+	6	1238	c.1226C>G	c.(1225-1227)cCa>cGa	p.P409R		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		AGAGAACGCCCACATTTGGCA	0.433000													4	100					0	0	0.00024832	0	0
GPHN	10243	broad.mit.edu	37	14	67555707	67555707	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:67555707G>C	ENST00000478722.1	+	12	2273	c.1152G>C	c.(1150-1152)atG>atC	p.M384I	GPHN_ENST00000305960.9_Missense_Mutation_p.M320I|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000315266.5_Missense_Mutation_p.M351I|GPHN_ENST00000543237.1_Missense_Mutation_p.M397I	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	351	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		CAGATGGAATGGGGCGAGTCC	0.428000			T	MLL	AL								4	95					0	0	0.00024832	0	0
ZNF114	163071	broad.mit.edu	37	19	48789587	48789587	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:48789587C>T	ENST00000595607.1	+	6	1200	c.706C>T	c.(706-708)Ctt>Ttt	p.L236F	ZNF114_ENST00000315849.1_Missense_Mutation_p.L236F|ZNF114_ENST00000597695.1_Missense_Mutation_p.L202F|ZNF114_ENST00000600687.1_Missense_Mutation_p.L236F			Q8NC26	ZN114_HUMAN	zinc finger protein 114	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		AGACGGATCCCTTAGGGCACA	0.463000													20	104					0	0	0.000132079	0	0
SYN2	6854	broad.mit.edu	37	3	12192810	12192810	+	RNA	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:12192810C>G	ENST00000432424.2	+	0	930							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						ACATACTACCCCAACCACAAA	0.453000													4	171					0	0	3.59834e-05	0	0
GBF1	8729	broad.mit.edu	37	10	104139072	104139072	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:104139072G>C	ENST00000369983.3	+	34	4783	c.4523G>C	c.(4522-4524)cGg>cCg	p.R1508P		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1508					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CTGCACACGCGGGCAGCCTCT	0.607000													4	76					0	0	0.00024832	0	0
WDR76	79968	broad.mit.edu	37	15	44127344	44127344	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:44127344C>A	ENST00000263795.6	+	3	618	c.548C>A	c.(547-549)tCt>tAt	p.S183Y	WDR76_ENST00000381246.2_Missense_Mutation_p.S119Y	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	183										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		CTTCAGTTGTCTGAGGTTTGT	0.453000													6	68					0.000157383	0.00236471	0.000157383	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76556047	76556047	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:76556047G>T	ENST00000307431.8	+	18	3030	c.2645G>T	c.(2644-2646)aGg>aTg	p.R882M	CNTNAP4_ENST00000476707.1_Missense_Mutation_p.R886M|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.R834M|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.R810M	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	883	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AGGGTTGAAAGGAACATGAAG	0.527000													8	92					0.000442599	0.00584094	0.000442599	1	0
TKTL2	84076	broad.mit.edu	37	4	164393517	164393517	+	Missense_Mutation	SNP	G	G	C	rs145423814		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:164393517G>C	ENST00000280605.3	-	1	1530	c.1370C>G	c.(1369-1371)tCg>tGg	p.S457W		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	457						cytoplasm	metal ion binding|transketolase activity	p.S457L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATGCTCTGTCGAGATGGCATC	0.463000													4	160					0	0	3.59834e-05	0	0
FAM214A	56204	broad.mit.edu	37	15	52901041	52901041	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:52901041C>A	ENST00000261844.7	-	6	2222	c.2070G>T	c.(2068-2070)ttG>ttT	p.L690F	FAM214A_ENST00000546305.2_Missense_Mutation_p.L697F	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	690																	CAGACATTTCCAACACAGTAA	0.294000													11	214					0.000673444	0.0084606	0.000673444	1	0
LOX	4015	broad.mit.edu	37	5	121413628	121413628	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:121413628A>G	ENST00000231004.4	-	1	352	c.53T>C	c.(52-54)cTa>cCa	p.L18P		NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	18					protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		GCAGTGCACTAGCGCGCAGAG	0.701000													3	16					0	0	6.4e-05	0	0
ANKRD17	26057	broad.mit.edu	37	4	73942657	73942657	+	Splice_Site	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:73942657C>G	ENST00000358602.4	-	33	7868	c.7752_splice	c.e33+1	p.T2584_splice	ANKRD17_ENST00000330838.6_Splice_Site_p.T2333_splice|ANKRD17_ENST00000509867.2_Splice_Site_p.T2471_splice	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2584					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCAGCCTCACCGTTTGAGGGC	0.423000													5	216					0	0	8.12818e-05	0	0
MCOLN1	57192	broad.mit.edu	37	19	7595189	7595189	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:7595189G>T	ENST00000264079.6	+	12	1502	c.1377G>T	c.(1375-1377)atG>atT	p.M459I		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	459					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CACTCTCCATGGTGTCTGAGT	0.652000													9	162					1.58986e-06	2.89309e-05	0.000673444	1	0
MPP1	4354	broad.mit.edu	37	X	154007562	154007562	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:154007562C>A	ENST00000413259.3	-	13	1593	c.1201G>T	c.(1201-1203)Gac>Tac	p.D401Y	MPP1_ENST00000369534.3_Missense_Mutation_p.D431Y|MPP1_ENST00000393531.1_Missense_Mutation_p.D411Y	NM_001166462.1	NP_001159934.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	431	Guanylate kinase-like.|Interaction with MPP5.				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGTGAGAGGTCAAAGTAGTGA	0.512000													7	130					0.00010058	0.00160074	0.00010058	1	0
KIAA0232	9778	broad.mit.edu	37	4	6865640	6865640	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:6865640C>A	ENST00000307659.5	+	7	3986	c.3531C>A	c.(3529-3531)ccC>ccA	p.P1177P	KIAA0232_ENST00000425103.1_Silent_p.P1177P	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1177							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AATTCCTTCCCAGGTTAAAAA	0.423000													8	105					1.58986e-06	2.89309e-05	0.000673444	1	0
CXorf66	347487	broad.mit.edu	37	X	139047572	139047572	+	Silent	SNP	A	A	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:139047572A>C	ENST00000370540.1	-	1	107	c.84T>G	c.(82-84)acT>acG	p.T28T		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	28						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						ACCTACCTGTAGTAGAAGATC	0.333000													5	241					0	0	0.000602214	0	0
UBE2L6	9246	broad.mit.edu	37	11	57321973	57321973	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:57321973C>A	ENST00000340573.4	-	3	655	c.49G>T	c.(49-51)Gga>Tga	p.G17*	UBE2L6_ENST00000287156.4_Nonsense_Mutation_p.G83*	NM_198183.2	NP_937826.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	83					negative regulation of type I interferon production	cytosol	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|ovary(1)	5						CAAATCTGTCCGTTCTCGTCC	0.542000													5	129					5.18039e-06	9.2077e-05	0.000157383	1	0
SCIN	85477	broad.mit.edu	37	7	12692309	12692309	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:12692309G>A	ENST00000297029.5	+	16	2218	c.2117G>A	c.(2116-2118)tGg>tAg	p.W706*	SCIN_ENST00000445618.2_Nonsense_Mutation_p.W459*|SCIN_ENST00000519209.1_Nonsense_Mutation_p.W459*	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	706	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TTCACAGGCTGGTTCCTGGGC	0.448000													24	117					0	0	0.000878237	0	0
FAM117B	150864	broad.mit.edu	37	2	203630191	203630191	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:203630191C>A	ENST00000303116.6	+	8	1484	c.742C>A	c.(742-744)Cca>Aca	p.P248T	FAM117B_ENST00000392238.2_Missense_Mutation_p.P492T	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	492										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						TCATGAAATCCCAGCCTTTTA	0.388000													11	307					4.3838e-07	8.16657e-06	0.000151284	1	0
RNF212	285498	broad.mit.edu	37	4	1102144	1102144	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:1102144A>G	ENST00000382968.5	-	2	255	c.158T>C	c.(157-159)tTg>tCg	p.L53S	RNF212_ENST00000333673.5_Missense_Mutation_p.L53S|RNF212_ENST00000433731.2_Missense_Mutation_p.L53S|RNF212_ENST00000505730.1_5'UTR	NM_001131034.3|NM_194439.4	NP_001124506.1|NP_919420.1	Q495C1	RN212_HUMAN	ring finger protein 212	53							zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		CTTTGAAAGCAAAACTGTACG	0.274000													16	287					0	0	0.000132079	0	0
PGLYRP1	8993	broad.mit.edu	37	19	46522576	46522576	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:46522576G>A	ENST00000008938.4	-	3	554	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W	CCDC61_ENST00000601763.1_Intron	NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1	171					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		TGCACATCCCGGTGTCCTTTG	0.642000													4	25					0	0	0.00024832	0	0
CMYA5	202333	broad.mit.edu	37	5	79033517	79033517	+	Silent	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:79033517T>C	ENST00000446378.2	+	2	8960	c.8929T>C	c.(8929-8931)Tta>Cta	p.L2977L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2977						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GCAAGATAAATTAGAATATTT	0.348000													16	72					0	0	0.000229342	0	0
TBRG1	84897	broad.mit.edu	37	11	124501992	124501992	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:124501992C>T	ENST00000441174.3	+	9	1298	c.1094C>T	c.(1093-1095)tCc>tTc	p.S365F	TBRG1_ENST00000375005.4_Missense_Mutation_p.S214F|TBRG1_ENST00000438907.2_3'UTR	NM_032811.2	NP_116200.2	Q3YBR2	TBRG1_HUMAN	transforming growth factor beta regulator 1	365					cell cycle arrest|DNA replication|negative regulation of cell proliferation|nucleolus to nucleoplasm transport|protein stabilization	nucleus	DNA binding|protein binding			kidney(1)|prostate(1)	2	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0218)		TCTCCAGGATCCTTGGACCTC	0.483000													28	110					0	0	0.000147802	0	0
HRNR	388697	broad.mit.edu	37	1	152187633	152187633	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:152187633G>C	ENST00000368801.2	-	3	6547	c.6472C>G	c.(6472-6474)Cgc>Ggc	p.R2158G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2158					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACCATAGCGGGAAGACGAA	0.617000													7	617					0	0	0.000274275	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7661006	7661006	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:7661006G>C	ENST00000299492.4	+	15	1668	c.1280G>C	c.(1279-1281)gGg>gCg	p.G427A	PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.G284A|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.G315A|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.G269A	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	427					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		ACTTTACCTGGGAAGCTTTCA	0.557000													4	131					0	0	0.000157383	0	0
WNK3	65267	broad.mit.edu	37	X	54259282	54259282	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:54259282G>C	ENST00000354646.2	-	21	5238	c.4800C>G	c.(4798-4800)ccC>ccG	p.P1600P	WNK3_ENST00000375169.3_Silent_p.P1553P|WNK3_ENST00000375159.2_Silent_p.P1600P	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1553					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TCAAGGACTGGGGGCGGCTTC	0.393000													5	190					0	0	8.12818e-05	0	0
SLC27A6	28965	broad.mit.edu	37	5	128359363	128359363	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:128359363C>A	ENST00000262462.4	+	6	2225	c.1215C>A	c.(1213-1215)ccC>ccA	p.P405P	SLC27A6_ENST00000395266.1_Silent_p.P405P|SLC27A6_ENST00000506176.1_Silent_p.P405P			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	405					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AAGATGAACCCATGAGAAATG	0.338000													8	79					3.86212e-05	0.000638159	0.000673444	1	0
MAP1LC3B	81631	broad.mit.edu	37	16	87432441	87432441	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:87432441C>G	ENST00000268607.5	+	2	689	c.61C>G	c.(61-63)Cga>Gga	p.R21G	RP11-178L8.3_ENST00000569147.1_RNA|MAP1LC3B_ENST00000534986.1_5'UTR|MAP1LC3B_ENST00000565788.1_Missense_Mutation_p.R21G	NM_022818.4	NP_073729.1	Q9GZQ8	MLP3B_HUMAN	microtubule-associated protein 1 light chain 3 beta	21					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding			endometrium(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(80;0.0249)		AGAAGATGTCCGACTTATTCG	0.493000													4	150					0	0	8.12818e-05	0	0
CYP2A6	1548	broad.mit.edu	37	19	41351345	41351345	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:41351345G>C	ENST00000301141.5	-	7	1035	c.1015C>G	c.(1015-1017)Cgg>Ggg	p.R339G	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	339					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	TTGGGCTGCCGGTTCTTGCCG	0.547000													4	87					0	0	0.000602214	0	0
CCAR2	57805	broad.mit.edu	37	8	22475243	22475243	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:22475243C>A	ENST00000308511.4	+	16	2274	c.2025C>A	c.(2023-2025)tcC>tcA	p.S675S	KIAA1967_ENST00000389279.3_Silent_p.S675S|KIAA1967_ENST00000520861.1_Silent_p.S350S			Q8N163	K1967_HUMAN		675					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		AGGTCCGGTCCGTTGCCTCAA	0.532000													5	133					0.000274275	0.0038898	0.000274275	1	0
UGGT2	55757	broad.mit.edu	37	13	96579527	96579527	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:96579527G>C	ENST00000376747.3	-	18	2111	c.2041C>G	c.(2041-2043)Cgt>Ggt	p.R681G		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	681					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	p.R681S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GTATTTATACGGGGTACAACA	0.303000													5	167					0	0	0.000602214	0	0
RPS6KA4	8986	broad.mit.edu	37	11	64128706	64128706	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:64128706C>A	ENST00000528057.1	+	5	651	c.563C>A	c.(562-564)aCg>aAg	p.T188K	RPS6KA4_ENST00000294261.4_Missense_Mutation_p.T188K|RPS6KA4_ENST00000334205.4_Missense_Mutation_p.T188K	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	188	Protein kinase 1.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						GAGTTCCTGACGGAGGAGGTG	0.587000													4	53					0.000442599	0.00584094	0.000442599	1	0
COPB1	1315	broad.mit.edu	37	11	14490887	14490887	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:14490887G>T	ENST00000249923.3	-	15	2260	c.1960C>A	c.(1960-1962)Caa>Aaa	p.Q654K	COPB1_ENST00000439561.2_Missense_Mutation_p.Q654K	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	654					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	p.Q654K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						CTTACCTTTTGGGATAATTTC	0.418000													8	195					0.000673444	0.0084606	0.000673444	1	0
RIF1	55183	broad.mit.edu	37	2	152322564	152322564	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:152322564C>G	ENST00000243326.4	+	29	7013	c.6530C>G	c.(6529-6531)cCg>cGg	p.P2177R	RIF1_ENST00000453091.2_Missense_Mutation_p.P2177R|RIF1_ENST00000444746.2_Missense_Mutation_p.P2177R|RIF1_ENST00000428287.2_Missense_Mutation_p.P2177R|RIF1_ENST00000430328.2_Missense_Mutation_p.P2177R			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	2177	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	p.P2177L(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TTGGCTTCTCCGTCTACGAGC	0.423000													4	79					0	0	3.59834e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9091124	9091124	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:9091124C>A	ENST00000397910.4	-	1	894	c.691G>T	c.(691-693)Ggg>Tgg	p.G231W		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	231	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAAAGTGTCCCAAATGATGGG	0.458000													20	107					7.45023e-12	1.46572e-10	0.000175454	1	0
RPL21	6144	broad.mit.edu	37	13	27828370	27828370	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:27828370G>T	ENST00000311549.6	+	3	370	c.81G>T	c.(79-81)ttG>ttT	p.L27F	RPL21_ENST00000326092.4_Missense_Mutation_p.L27F|RPL21_ENST00000272274.4_Missense_Mutation_p.L27F|RPL21_ENST00000319826.4_Missense_Mutation_p.L27F	NM_000982.3	NP_000973.2	P46778	RL21_HUMAN	ribosomal protein L21	27					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			large_intestine(1)|lung(1)	2		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0287)|OV - Ovarian serous cystadenocarcinoma(117;0.118)|Epithelial(112;0.139)|GBM - Glioblastoma multiforme(144;0.21)		TTGTTCCTTTGGCCACATATA	0.289000													8	310					0.000673444	0.0084606	0.000673444	1	0
PDE7B	27115	broad.mit.edu	37	6	136500203	136500203	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:136500203T>C	ENST00000308191.6	+	10	1175	c.872T>C	c.(871-873)tTg>tCg	p.L291S	RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	291	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	AATGAATTTTTGACCAGATTG	0.418000													20	79					0	0	9.7654e-05	0	0
DOCK3	1795	broad.mit.edu	37	3	51370631	51370631	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:51370631C>A	ENST00000266037.9	+	35	3581	c.3558C>A	c.(3556-3558)ggC>ggA	p.G1186G		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1186	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCGAGACCGGCATTTCCTTTG	0.527000													5	122					0.000157383	0.00236471	0.000157383	1	0
CNGB3	54714	broad.mit.edu	37	8	87623853	87623853	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:87623853G>A	ENST00000320005.5	-	14	1672	c.1625C>T	c.(1624-1626)tCc>tTc	p.S542F		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	542					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ATAGAGAACGGATTTCAATCT	0.328000													24	118					0	0	0.000184323	0	0
TPTE2	93492	broad.mit.edu	37	13	20056679	20056679	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:20056679T>G	ENST00000400230.2	-	4	172	c.128A>C	c.(127-129)gAa>gCa	p.E43A	TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Missense_Mutation_p.E43A|TPTE2_ENST00000382978.1_Missense_Mutation_p.E43A|TPTE2_ENST00000400103.2_Missense_Mutation_p.E43A|TPTE2_ENST00000382977.4_Missense_Mutation_p.E43A|TPTE2_ENST00000382975.4_Missense_Mutation_p.E43A			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	43						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.E43A(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GGAAAGTCGTTCTAACATACT	0.313000													7	156					0	0	8.12818e-05	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348548	140348548	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:140348548C>G	ENST00000289269.5	+	1	2729	c.2197C>G	c.(2197-2199)Cgc>Ggc	p.R733G	PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		733					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGTGCTACCGCTACACTGC	0.408000													4	121					0	0	3.59834e-05	0	0
RALGPS2	55103	broad.mit.edu	37	1	178855191	178855191	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:178855191G>T	ENST00000367635.3	+	13	1466	c.1128G>T	c.(1126-1128)atG>atT	p.M376I	RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000324778.4_Missense_Mutation_p.M341I|RALGPS2_ENST00000367634.2_Missense_Mutation_p.M376I	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	376					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						ATAGCGTCATGGAGCCCCATG	0.408000													7	109					0.000673444	0.0084606	0.000673444	1	0
ATP13A4	84239	broad.mit.edu	37	3	193188694	193188694	+	Silent	SNP	G	G	T	rs141926131		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:193188694G>T	ENST00000342695.4	-	9	1219	c.897C>A	c.(895-897)gcC>gcA	p.A299A	ATP13A4_ENST00000295548.3_Silent_p.A299A|ATP13A4_ENST00000392443.3_Silent_p.A299A	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	299					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CAATCAGAACGGCATCACATG	0.517000													11	117					0.000673444	0.0084606	0.000673444	1	0
SLCO1C1	53919	broad.mit.edu	37	12	20870065	20870065	+	Splice_Site	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:20870065G>T	ENST00000381552.1	+	7	1044		c.e7-1		SLCO1C1_ENST00000545102.1_Splice_Site|SLCO1C1_ENST00000540354.1_Splice_Site|SLCO1C1_ENST00000545604.1_Splice_Site|SLCO1C1_ENST00000266509.2_Splice_Site			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1						sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TCTTGGTGCAGGGTGTGTGCA	0.353000													8	95					0.000157383	0.00236471	0.000157383	1	0
MUC17	140453	broad.mit.edu	37	7	100683331	100683331	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:100683331C>A	ENST00000306151.4	+	3	8698	c.8634C>A	c.(8632-8634)acC>acA	p.T2878T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2878	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGTCAGCACCACGCCGGTGG	0.478000													8	275					0.000673444	0.0084606	0.000673444	1	0
MYF5	4617	broad.mit.edu	37	12	81110921	81110921	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:81110921G>A	ENST00000228644.3	+	1	231	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	27					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CCCCGAGGGTGAATTTGGGGA	0.622000													11	52					0	0	6.40141e-05	0	0
AXDND1	126859	broad.mit.edu	37	1	179364250	179364250	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:179364250G>C	ENST00000367618.3	+	11	1409	c.1022G>C	c.(1021-1023)cGg>cCg	p.R341P	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.R341P	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	341										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TGTCTAGTTCGGGCACATGAT	0.343000													6	238					0	0	8.12818e-05	0	0
CEP55	55165	broad.mit.edu	37	10	95259877	95259877	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:95259877C>A	ENST00000371485.3	+	2	373	c.69C>A	c.(67-69)tcC>tcA	p.S23S		NM_001127182.1|NM_018131.4	NP_001120654.1|NP_060601.3	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	23					cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				ACTCCAAATCCGAAACTACAT	0.353000													8	301					0.000442599	0.00584094	0.000442599	1	0
ZNF106	64397	broad.mit.edu	37	15	42744097	42744097	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:42744097G>A	ENST00000263805.4	-	2	630	c.304C>T	c.(304-306)Caa>Taa	p.Q102*	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106									p.Q102K(1)									CGTCTCCATTGGGGTCGTCTG	0.443000													14	180					0	0	0.000308642	0	0
AMY2B	280	broad.mit.edu	37	1	104118116	104118116	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:104118116G>C	ENST00000361355.4	+	9	1671	c.1055G>C	c.(1054-1056)cGa>cCa	p.R352P	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	352					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	p.R352L(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GGTTTTACACGAGTAATGTCA	0.333000													6	299					0	0	0.000274275	0	0
USP8	9101	broad.mit.edu	37	15	50786460	50786460	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:50786460C>G	ENST00000433963.1	+	17	3141	c.2641C>G	c.(2641-2643)Cat>Gat	p.H881D	USP8_ENST00000396444.3_Missense_Mutation_p.H881D|USP8_ENST00000307179.4_Missense_Mutation_p.H881D|USP8_ENST00000425032.3_Missense_Mutation_p.H775D|RP11-562A8.5_ENST00000560159.1_lincRNA	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	881					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GGATGGTCTCCATGAAGATCT	0.348000													4	116					0	0	0.000157383	0	0
SMS	6611	broad.mit.edu	37	X	21995222	21995222	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:21995222C>T	ENST00000404933.2	+	5	625	c.373C>T	c.(373-375)Ccc>Tcc	p.P125S	SMS_ENST00000379404.1_Missense_Mutation_p.P72S|SMS_ENST00000478094.1_3'UTR|SMS_ENST00000415881.2_Missense_Mutation_p.P29S	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	125					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	CAGATACTGGCCCACCGCCGA	0.438000													6	115					0	0	0.000157383	0	0
MCU	90550	broad.mit.edu	37	10	74645554	74645554	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:74645554C>T	ENST00000536019.1	+	8	1328	c.883C>T	c.(883-885)Ctc>Ttc	p.L295F	MCU_ENST00000357157.6_Missense_Mutation_p.L323F|MCU_ENST00000373053.3_Missense_Mutation_p.L344F|MCU_ENST00000605416.1_3'UTR	NM_001270680.1	NP_001257609.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	344					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						ACATCTGCCTCTCCGACAAAT	0.408000													5	80					0	0	8.12818e-05	0	0
ZNF259	8882	broad.mit.edu	37	11	116653720	116653720	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:116653720G>T	ENST00000227322.3	-	11	1066	c.1007C>A	c.(1006-1008)cCa>cAa	p.P336Q		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN	zinc finger protein 259	336					cell proliferation|signal transduction	cytoplasm|nucleolus				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		TTCTAGCTCTGGGATTTCCAC	0.493000													8	218					2.80697e-09	5.44685e-08	6.40141e-05	1	0
RBM27	54439	broad.mit.edu	37	5	145664215	145664215	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:145664215C>G	ENST00000265271.5	+	20	3185	c.3019C>G	c.(3019-3021)Cgt>Ggt	p.R1007G	RBM27_ENST00000506502.1_Intron	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	1007					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTTAAAGACCGTCGGCTACA	0.378000													5	164					0	0	8.12818e-05	0	0
KCNQ1	3784	broad.mit.edu	37	11	2594162	2594162	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:2594162C>A	ENST00000155840.5	+	6	975	c.867C>A	c.(865-867)aaC>aaA	p.N289K	KCNQ1_ENST00000335475.5_Missense_Mutation_p.N162K	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	289					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	ACGCGGTGAACGAGTCAGGCC	0.597000													8	301					3.07112e-06	5.5112e-05	6.40141e-05	1	0
PNO1	56902	broad.mit.edu	37	2	68389420	68389420	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:68389420G>T	ENST00000263657.2	+	4	556	c.465G>T	c.(463-465)ttG>ttT	p.L155F		NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN	partner of NOB1 homolog (S. cerevisiae)	155						nucleolus	RNA binding			endometrium(1)|large_intestine(1)|lung(2)	4						TCATCAGGTTGGATGACCTCT	0.433000													7	109					4.68919e-08	8.97658e-07	0.000673444	1	0
ANO5	203859	broad.mit.edu	37	11	22277042	22277042	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:22277042C>A	ENST00000324559.8	+	13	1623	c.1306C>A	c.(1306-1308)Cac>Aac	p.H436N		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	436						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TATGTGTAAACACAGGAAATT	0.423000													5	149					0.000157383	0.00236471	0.000157383	1	0
NXPE4	54827	broad.mit.edu	37	11	114453572	114453572	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:114453572G>C	ENST00000375478.3	-	3	448	c.268C>G	c.(268-270)Cac>Gac	p.H90D	NXPE4_ENST00000424261.2_5'UTR	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		GTGTTCACGTGGGTGAAAGGT	0.502000													7	102					0	0	8.12818e-05	0	0
PIK3CG	5294	broad.mit.edu	37	7	106513003	106513003	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:106513003C>G	ENST00000359195.3	+	3	2327	c.2017C>G	c.(2017-2019)Cat>Gat	p.H673D	PIK3CG_ENST00000440650.2_Missense_Mutation_p.H673D|PIK3CG_ENST00000496166.1_Missense_Mutation_p.H673D	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	673					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGAACCATACCATGATAGCGC	0.393000													6	164					0	0	6.40141e-05	0	0
UTP6	55813	broad.mit.edu	37	17	30219767	30219767	+	Splice_Site	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:30219767C>A	ENST00000261708.4	-	5	496	c.360_splice	c.e5+1	p.W120_splice	UTP6_ENST00000490218.2_5'UTR	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	120					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				TTTACTCACCCACTTCTTACA	0.408000													6	71					0.000673444	0.0084606	0.000673444	1	0
IL12RB1	3594	broad.mit.edu	37	19	18191769	18191769	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:18191769G>A	ENST00000600835.1	-	5	585	c.282C>T	c.(280-282)gcC>gcT	p.A94A	IL12RB1_ENST00000430026.2_Silent_p.A94A|IL12RB1_ENST00000593993.1_Silent_p.A94A|IL12RB1_ENST00000322153.6_Silent_p.A94A			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	94	Fibronectin type-III 1.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						GCAGCCTGGTGGCTGAGCCGG	0.637000													6	69					0	0	3.59834e-05	0	0
OR51M1	390059	broad.mit.edu	37	11	5410947	5410947	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:5410947G>T	ENST00000328611.3	+	1	341	c.319G>T	c.(319-321)Gga>Tga	p.G107*	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	107						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATCTACTTTGGAGCGTGTCA	0.512000													7	148					3.86212e-05	0.000638159	0.000673444	1	0
SMG7	9887	broad.mit.edu	37	1	183511386	183511386	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:183511386C>G	ENST00000367537.3	+	15	1873	c.1678C>G	c.(1678-1680)Cga>Gga	p.R560G	SMG7_ENST00000508461.1_Missense_Mutation_p.R489G|SMG7_ENST00000515829.2_Missense_Mutation_p.R531G|SMG7_ENST00000347615.2_Missense_Mutation_p.R531G|SMG7_ENST00000456731.2_Missense_Mutation_p.R489G|SMG7_ENST00000507469.1_Missense_Mutation_p.R531G			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	531					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						ATCTACAAGCCGAAATTTAAG	0.448000													4	217					0	0	3.59834e-05	0	0
WDR72	256764	broad.mit.edu	37	15	53998248	53998248	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:53998248C>T	ENST00000396328.1	-	10	1217	c.978G>A	c.(976-978)atG>atA	p.M326I	WDR72_ENST00000559418.1_Missense_Mutation_p.M336I|WDR72_ENST00000557913.1_Missense_Mutation_p.M323I|WDR72_ENST00000360509.5_Missense_Mutation_p.M326I	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	326								p.M326I(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TCATGTAGCCCATAACAAAGG	0.388000													7	71					0	0	0.000442599	0	0
SUN1	23353	broad.mit.edu	37	7	896021	896021	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:896021C>A	ENST00000456758.2	+	18	1944	c.1944C>A	c.(1942-1944)acC>acA	p.T648T	SUN1_ENST00000389574.3_Silent_p.T376T|SUN1_ENST00000401592.1_Silent_p.T459T|SUN1_ENST00000405266.1_Silent_p.T496T|SUN1_ENST00000452783.2_Silent_p.T356T|SUN1_ENST00000413514.2_Silent_p.T257T|SUN1_ENST00000425407.2_Silent_p.T376T			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	486					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TAGAACAGACCAAGCAAAAAA	0.378000													8	96					0.000673444	0.0084606	0.000673444	1	0
LOC440040	440040	broad.mit.edu	37	11	49831700	49831700	+	RNA	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:49831700C>T	ENST00000527477.1	+	0	1925																											CTGTGAGCTTCGTTGATGTTA	0.458000													11	105					0	0	0.00010058	0	0
IL23R	149233	broad.mit.edu	37	1	67635238	67635238	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:67635238C>A	ENST00000347310.5	+	3	455	c.284C>A	c.(283-285)cCa>cAa	p.P95Q	C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000371002.1_Missense_Mutation_p.P95Q	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	95					inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TTTCTGGAACCACATGCTTCT	0.358000													7	155					0.000673444	0.0084606	0.000673444	1	0
PDPK1	5170	broad.mit.edu	37	16	2636891	2636891	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:2636891C>G	ENST00000342085.4	+	11	1489	c.1340C>G	c.(1339-1341)cCt>cGt	p.P447R	PDPK1_ENST00000441549.3_Missense_Mutation_p.P447R|PDPK1_ENST00000389224.3_Missense_Mutation_p.P420R|PDPK1_ENST00000354836.5_Missense_Mutation_p.P423R|PDPK1_ENST00000268673.7_Missense_Mutation_p.P320R	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase-1	447					actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	GGCGGAAACCCTTGGTAAGAA	0.488000													4	117					0	0	3.59834e-05	0	0
BZRAP1	9256	broad.mit.edu	37	17	56388969	56388969	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:56388969C>G	ENST00000355701.3	-	18	3914	c.3044G>C	c.(3043-3045)cGg>cCg	p.R1015P	BZRAP1_ENST00000268893.6_Missense_Mutation_p.R955P|BZRAP1_ENST00000343736.4_Missense_Mutation_p.R1015P	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1015	Fibronectin type-III 3.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCCTGTGACCCGGACACCGTT	0.597000													4	59					0	0	0.000157383	0	0
EDN2	1907	broad.mit.edu	37	1	41946854	41946854	+	Missense_Mutation	SNP	C	C	A	rs151334316		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:41946854C>A	ENST00000372587.4	-	4	424	c.355G>T	c.(355-357)Ggg>Tgg	p.G119W	EDN2_ENST00000490783.1_5'UTR	NM_001956.3	NP_001947.1	P20800	EDN2_HUMAN	endothelin 2	119					artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space	endothelin B receptor binding|hormone activity			endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGACTGCCCCGGCTTCAGTC	0.637000													4	40					3.59834e-05	0.000600898	3.59834e-05	1	0
DNAH5	1767	broad.mit.edu	37	5	13736003	13736003	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:13736003C>A	ENST00000265104.4	-	67	11598	c.11494G>T	c.(11494-11496)Gag>Tag	p.E3832*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3832					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAGCGCATCTCAGTAATGAGG	0.483000									Kartagener syndrome				7	124					1.12685e-05	0.000195397	0.000274275	1	0
MAGEA12	4111	broad.mit.edu	37	X	151900616	151900616	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:151900616G>A	ENST00000393900.3	-	3	538	c.185C>T	c.(184-186)cCc>cTc	p.P62L	MAGEA12_ENST00000357916.4_Missense_Mutation_p.P62L|MAGEA12_ENST00000393869.3_Missense_Mutation_p.P62L|CSAG4_ENST00000361201.4_RNA	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	62										breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTGTGGGGAGGACTTGG	0.597000													20	146					0	0	0.000229342	0	0
CLCN1	1180	broad.mit.edu	37	7	143016897	143016897	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:143016897G>C	ENST00000343257.2	+	2	317	c.230G>C	c.(229-231)gGg>gCg	p.G77A		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	77					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CAGGACATAGGGATGCCCAAG	0.443000													4	159					0	0	0.00024832	0	0
UNC5D	137970	broad.mit.edu	37	8	35606140	35606140	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:35606140C>G	ENST00000287272.2	+	11	1675	c.1655C>G	c.(1654-1656)cCg>cGg	p.P552R	UNC5D_ENST00000416672.1_Missense_Mutation_p.P626R|UNC5D_ENST00000453357.2_Missense_Mutation_p.P616R|UNC5D_ENST00000420357.1_Missense_Mutation_p.P554R|UNC5D_ENST00000404895.2_Missense_Mutation_p.P621R|UNC5D_ENST00000449677.1_Missense_Mutation_p.P197R			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	621	ZU5.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TTGACCATCCCGCACTGTGCA	0.493000													4	111					0	0	0.00024832	0	0
PLCB4	5332	broad.mit.edu	37	20	9288501	9288501	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:9288501C>A	ENST00000378501.2	+	1	55	c.40C>A	c.(40-42)Ccc>Acc	p.P14T	PLCB4_ENST00000414679.2_Missense_Mutation_p.P14T|PLCB4_ENST00000378493.1_Missense_Mutation_p.P14T|PLCB4_ENST00000278655.4_Missense_Mutation_p.P14T|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.P14T|PLCB4_ENST00000334005.3_Missense_Mutation_p.P14T	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	14					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GAAGGAAGTTCCCTCCTTTTT	0.299000													6	78					0.000673444	0.0084606	0.000673444	1	0
LENG8	114823	broad.mit.edu	37	19	54969503	54969503	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:54969503G>T	ENST00000326764.5	+	15	2522	c.2043G>T	c.(2041-2043)acG>acT	p.T681T	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	644							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		ACATCACCACGGAGCTGGCAT	0.597000													5	82					0.000157383	0.00236471	0.000157383	1	0
DAXX	1616	broad.mit.edu	37	6	33289599	33289599	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:33289599C>A	ENST00000374542.5	-	2	308	c.104G>T	c.(103-105)gGg>gTg	p.G35V	DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000414083.2_Intron|DAXX_ENST00000266000.6_Missense_Mutation_p.G35V	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	35	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GGCTTCTGCCCCAGGTGAGGC	0.587000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								7	146					8.12818e-05	0.00129777	8.12818e-05	1	0
FER1L5	90342	broad.mit.edu	37	2	97370098	97370098	+	RNA	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:97370098C>A	ENST00000457909.1	+	0	5451							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						TATTCAGCTCCGGTGAGTGGC	0.478000													7	199					0.000673444	0.0084606	0.000673444	1	0
UMOD	7369	broad.mit.edu	37	16	20359606	20359606	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:20359606C>A	ENST00000396134.2	-	5	1134	c.1011G>T	c.(1009-1011)gaG>gaT	p.E337D	UMOD_ENST00000396142.2_Missense_Mutation_p.E304D|UMOD_ENST00000302509.4_Missense_Mutation_p.E304D|UMOD_ENST00000396138.4_Missense_Mutation_p.E353D|UMOD_ENST00000424589.1_Missense_Mutation_p.E337D|UMOD_ENST00000570689.1_Missense_Mutation_p.E304D	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	304	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						ATTTGCAGTCCTCGTCTATAC	0.557000													9	189					9.31168e-06	0.000163173	0.000151284	1	0
POLR3A	11128	broad.mit.edu	37	10	79742034	79742034	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:79742034G>T	ENST00000372371.3	-	28	3774	c.3637C>A	c.(3637-3639)Cac>Aac	p.H1213N		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1213					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TCGTCAATGTGGATGACAGCT	0.572000													6	119					0.000157383	0.00236471	0.000157383	1	0
UTRN	7402	broad.mit.edu	37	6	145095476	145095476	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:145095476C>A	ENST00000367545.3	+	59	8608	c.8608C>A	c.(8608-8610)Cga>Aga	p.R2870R	UTRN_ENST00000367526.4_Silent_p.R425R	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2870	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AATCAAAATCCGAAGACTACA	0.308000													5	59					1.23904e-05	0.000214228	0.000602214	1	0
CHD4	1108	broad.mit.edu	37	12	6710657	6710657	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:6710657G>T	ENST00000309577.6	-	6	760	c.597C>A	c.(595-597)tcC>tcA	p.S199S	CHD4_ENST00000544040.1_Silent_p.S192S|CHD4_ENST00000357008.2_Silent_p.S199S|CHD4_ENST00000544484.1_Silent_p.S196S			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	199					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TCATCATCTTGGAGACAGCAA	0.478000													10	366					1.52009e-12	3.00243e-11	0.000308642	1	0
MUSK	4593	broad.mit.edu	37	9	113449410	113449410	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:113449410C>G	ENST00000416899.2	+	3	346	c.220C>G	c.(220-222)Cgg>Ggg	p.R74G	MUSK_ENST00000189978.5_Missense_Mutation_p.R74G|MUSK_ENST00000374440.3_5'UTR|MUSK_ENST00000374448.4_Missense_Mutation_p.R74G			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	74	Ig-like 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.R74R(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CTTTGACACCCGGTACAGCAT	0.468000													4	84					0	0	8.12818e-05	0	0
DCAF12	25853	broad.mit.edu	37	9	34125095	34125095	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:34125095C>A	ENST00000361264.4	-	2	600	c.259G>T	c.(259-261)Ggg>Tgg	p.G87W	DCAF12_ENST00000463286.1_5'UTR	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	87						centrosome|CUL4 RING ubiquitin ligase complex				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						TTAAGGGTCCCAAGGTGAAAC	0.493000													6	94					0.000442599	0.00584094	0.000442599	1	0
FBXO7	25793	broad.mit.edu	37	22	32894240	32894240	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:32894240C>G	ENST00000266087.7	+	9	1619	c.1292C>G	c.(1291-1293)cCt>cGt	p.P431R	FBXO7_ENST00000382058.3_Missense_Mutation_p.P352R|FBXO7_ENST00000397426.1_Missense_Mutation_p.P317R	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	431					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCCTTGCACCCTAGGCCATTT	0.502000													4	117					0	0	0.000157383	0	0
SMPD1	6609	broad.mit.edu	37	11	6414574	6414574	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:6414574G>A	ENST00000342245.4	+	3	1388	c.1220G>A	c.(1219-1221)tGg>tAg	p.W407*	SMPD1_ENST00000299397.3_Intron|SMPD1_ENST00000356761.2_Intron|SMPD1_ENST00000527275.1_Nonsense_Mutation_p.W406*	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	405					cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	CAGCTCCAGTGGCTGGTGGGG	0.572000													4	49					0	0	3.59834e-05	0	0
SWT1	54823	broad.mit.edu	37	1	185240489	185240489	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:185240489G>T	ENST00000367500.4	+	17	2641	c.2476G>T	c.(2476-2478)Gag>Tag	p.E826*	SWT1_ENST00000367501.3_Nonsense_Mutation_p.E826*	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	826										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TCAAGATGTTGAGACCCTCTA	0.274000													7	187					0.00010058	0.00160074	0.00010058	1	0
ZNF106	64397	broad.mit.edu	37	15	42731497	42731497	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:42731497G>T	ENST00000263805.4	-	8	4535	c.4209C>A	c.(4207-4209)gaC>gaA	p.D1403E	ZNF106_ENST00000565380.1_Missense_Mutation_p.D631E|ZNF106_ENST00000565611.1_Missense_Mutation_p.D588E	NM_022473.1	NP_071918.1			zinc finger protein 106																		CAGTCCTGCTGTCTTCCCAAG	0.448000													8	239					5.50884e-06	9.71621e-05	0.00010058	1	0
EIF2AK3	9451	broad.mit.edu	37	2	88885362	88885362	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:88885362G>T	ENST00000303236.3	-	9	1948	c.1647C>A	c.(1645-1647)caC>caA	p.H549Q	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.H398Q	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	549					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						TTCTTACCCTGTGAGGATGAG	0.443000													8	151					0.000442599	0.00584094	0.000442599	1	0
RPTOR	57521	broad.mit.edu	37	17	78704470	78704470	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:78704470C>A	ENST00000306801.3	+	5	980	c.618C>A	c.(616-618)ttC>ttA	p.F206L	RPTOR_ENST00000544334.2_Missense_Mutation_p.F206L|RPTOR_ENST00000537330.1_Missense_Mutation_p.F21L|RPTOR_ENST00000570891.1_Missense_Mutation_p.F206L	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	206					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TCAAGTCCTTCAAGCAGTTCG	0.567000													8	102					6.40141e-05	0.00104902	6.40141e-05	1	0
CTSK	1513	broad.mit.edu	37	1	150772120	150772120	+	Silent	SNP	G	G	T	rs142097792	byFrequency	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:150772120G>T	ENST00000271651.3	-	6	794	c.684C>A	c.(682-684)ccC>ccA	p.P228P		NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	cathepsin K	228					proteolysis	lysosome	cysteine-type endopeptidase activity|protein binding			cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CATTCCCCTCGGGGATCTCTC	0.507000													5	139					0.000157383	0.00236471	0.000157383	1	0
GPR18	2841	broad.mit.edu	37	13	99907513	99907513	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:99907513C>G	ENST00000340807.3	-	3	1170	c.614G>C	c.(613-615)gGg>gCg	p.G205A	GPR18_ENST00000397470.2_Missense_Mutation_p.G205A|UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397473.2_Missense_Mutation_p.G205A			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	205						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	CAAGTAGCACCCAATCATGAT	0.423000													4	108					0	0	0.00024832	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958326	57958326	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:57958326C>G	ENST00000311591.3	+	1	421	c.364C>G	c.(364-366)Cgc>Ggc	p.R122G		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				GGCCTATGACCGCTACACGGC	0.572000													4	126					0	0	3.59834e-05	0	0
IGHV3-15	28448	broad.mit.edu	37	14	106610601	106610601	+	RNA	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:106610601C>A	ENST00000390603.2	-	0	148																											CAGACTCCACCAGCTGCACCT	0.537000													10	122					1.41608e-15	2.80256e-14	0.000151284	1	0
ZNF880	400713	broad.mit.edu	37	19	52876401	52876401	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:52876401C>A	ENST00000422689.2	+	2	65	c.50C>A	c.(49-51)cCt>cAt	p.P17H	ZNF880_ENST00000600321.1_Missense_Mutation_p.P17H|ZNF880_ENST00000424032.2_Missense_Mutation_p.P17H|ZNF880_ENST00000595099.1_3'UTR|ZNF880_ENST00000597976.1_Missense_Mutation_p.P17H|ZNF880_ENST00000344085.5_Missense_Mutation_p.P17H	NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	17	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						ATAGAATTCCCTCAGGAGGAG	0.458000													7	150					7.48243e-07	1.3784e-05	0.000442599	1	0
SNRPF	6636	broad.mit.edu	37	12	96273484	96273484	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:96273484G>T	ENST00000552085.1	+	3	253	c.148G>T	c.(148-150)Gga>Tga	p.G50*	SNRPF_ENST00000553192.1_Nonsense_Mutation_p.G50*|CCDC38_ENST00000344280.3_Silent_p.S360S			P62306	RUXF_HUMAN	small nuclear ribonucleoprotein polypeptide F	53					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			kidney(1)|lung(1)	2						CTACATCTTGGGAATATTGAA	0.338000													9	154					0.000274275	0.0038898	0.000274275	1	0
MARCH10	162333	broad.mit.edu	37	17	60802363	60802363	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:60802363C>G	ENST00000544856.2	-	8	2415	c.2037G>C	c.(2035-2037)gtG>gtC	p.V679V	MARCH10_ENST00000456609.2_Silent_p.V680V|MARCH10_ENST00000583600.1_Silent_p.V718V|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000311269.5_Silent_p.V680V|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000584597.1_RNA			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	680							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GCAGGCTTCCCACACAGCCGC	0.557000													5	132					0	0	8.12818e-05	0	0
RAB3IP	117177	broad.mit.edu	37	12	70188294	70188294	+	Splice_Site	SNP	A	A	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:70188294A>G	ENST00000550536.1	+	5	1189	c.732_splice	c.e5+1	p.K244_splice	RAB3IP_ENST00000247833.7_Splice_Site_p.K228_splice|RAB3IP_ENST00000553099.1_Splice_Site_p.K22_splice|RAB3IP_ENST00000483530.2_Splice_Site_p.K228_splice|RAB3IP_ENST00000551641.1_Splice_Site_p.K22_splice|RAB3IP_ENST00000362025.5_Splice_Site_p.K244_splice|RAB3IP_ENST00000325555.9_Splice_Site_p.K22_splice|RAB3IP_ENST00000378815.6_Splice_Site_p.K228_splice	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	244					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			CACAAGGAAAAGTGAGTTTTT	0.323000													4	62					0	0	0.00024832	0	0
GNAT2	2780	broad.mit.edu	37	1	110152777	110152777	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:110152777G>T	ENST00000351050.3	-	3	374	c.188C>A	c.(187-189)cCa>cAa	p.P63Q		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	63					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		GCATTCTTCTGGTGAATAGCC	0.498000													7	140					0.000673444	0.0084606	0.000673444	1	0
ALMS1	7840	broad.mit.edu	37	2	73675821	73675821	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:73675821G>C	ENST00000264448.6	+	8	2275	c.2164G>C	c.(2164-2166)Ggt>Cgt	p.G722R	ALMS1_ENST00000409009.1_Missense_Mutation_p.G680R|ALMS1_ENST00000377715.1_Missense_Mutation_p.G722R	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	722	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGAGAAGCCTGGTATTTTTTA	0.478000													4	120					0	0	3.59834e-05	0	0
SYNM	23336	broad.mit.edu	37	15	99669600	99669600	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:99669600C>A	ENST00000336292.6	+	5	1152	c.1032C>A	c.(1030-1032)acC>acA	p.T344T	SYNM_ENST00000560674.1_Silent_p.T59T|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Silent_p.T344T	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	345	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	p.T344T(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						ATCACTATACCGACTCACTAC	0.373000													8	203					1.49906e-05	0.000258586	0.000219431	1	0
DAB1	1600	broad.mit.edu	37	1	57476411	57476411	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:57476411C>G	ENST00000371236.2	-	14	1888	c.1625G>C	c.(1624-1626)gGg>gCg	p.G542A	DAB1_ENST00000439789.2_Missense_Mutation_p.G456A|DAB1_ENST00000414851.2_Missense_Mutation_p.G524A|DAB1_ENST00000420954.2_Missense_Mutation_p.G540A|DAB1_ENST00000371231.1_Missense_Mutation_p.G575A|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Missense_Mutation_p.G542A			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	575					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						ACTGGGCTCCCCACTGGGCTC	0.448000													4	100					0	0	0.000157383	0	0
EEF1DP3	196549	broad.mit.edu	37	13	32527522	32527522	+	RNA	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:32527522C>G	ENST00000428783.1	+	0	1222																											TGTGTGTGCCCGCGTGCATGA	0.443000													5	53					0	0	0.000602214	0	0
HSPB8	26353	broad.mit.edu	37	12	119631576	119631576	+	Silent	SNP	T	T	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:119631576T>G	ENST00000281938.2	+	3	1175	c.504T>G	c.(502-504)gcT>gcG	p.A168A	HSPB8_ENST00000542496.1_3'UTR	NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	168					cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCATCGAAGCTCCCCAGGTCC	0.507000													5	98					0	0	0.000602214	0	0
RFX4	5992	broad.mit.edu	37	12	107114555	107114555	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:107114555G>A	ENST00000392842.1	+	13	1666	c.1252G>A	c.(1252-1254)Ggg>Agg	p.G418R	RFX4_ENST00000229387.5_Missense_Mutation_p.G324R|RFX4_ENST00000357881.4_Missense_Mutation_p.G427R|RP11-482D24.3_ENST00000552415.1_RNA|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	418	Necessary for dimerization.				transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CAAGAGACAAGGGTCCTTGAA	0.498000													14	61					0	0	0.000219431	0	0
CLSPN	63967	broad.mit.edu	37	1	36213533	36213533	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:36213533G>T	ENST00000251195.5	-	14	2698	c.2602C>A	c.(2602-2604)Cag>Aag	p.Q868K	CLSPN_ENST00000520551.1_Missense_Mutation_p.Q815K|CLSPN_ENST00000318121.3_Missense_Mutation_p.Q868K|CLSPN_ENST00000373220.3_Missense_Mutation_p.Q804K			Q9HAW4	CLSPN_HUMAN	claspin	868					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGTTGGCTCTGAGTGTCATCT	0.458000													10	280					5.01169e-05	0.000826736	0.000566183	1	0
CELF1	10658	broad.mit.edu	37	11	47504246	47504246	+	Splice_Site	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:47504246C>A	ENST00000395290.2	-	6	694		c.e6+1		CELF1_ENST00000532048.1_Splice_Site|CELF1_ENST00000531165.1_Splice_Site|CELF1_ENST00000361904.3_Splice_Site|CELF1_ENST00000310513.5_Splice_Site|CELF1_ENST00000395292.2_Splice_Site|CELF1_ENST00000358597.3_Splice_Site	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1						embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						CAAAGACTCACTGCTAAATAC	0.498000													5	97					0.000274275	0.0038898	0.000274275	1	0
SNRNP200	23020	broad.mit.edu	37	2	96967353	96967353	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:96967353C>G	ENST00000323853.5	-	4	560	c.483G>C	c.(481-483)ctG>ctC	p.L161L	SNRNP200_ENST00000349783.5_Silent_p.L161L	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	161						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CTGTTTGACCCAGCAGCAGGT	0.458000													5	141					0	0	3.59834e-05	0	0
ACVR2A	92	broad.mit.edu	37	2	148654054	148654054	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:148654054G>A	ENST00000241416.7	+	2	876	c.240G>A	c.(238-240)ctG>ctA	p.L80L	ACVR2A_ENST00000535787.1_5'UTR|ACVR2A_ENST00000404590.1_Silent_p.L80L	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	80					activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		GTTGTTGGCTGGATGATATCA	0.373000													7	76					0	0	0.000274275	0	0
RCOR2	283248	broad.mit.edu	37	11	63679914	63679914	+	Missense_Mutation	SNP	G	G	C	rs111279077		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:63679914G>C	ENST00000301459.4	-	11	1507	c.1120C>G	c.(1120-1122)Cgg>Ggg	p.R374G		NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	374	SANT 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						AAGCGGCGCCGGTAGCTCACA	0.592000													4	120					0	0	3.59834e-05	0	0
CCDC96	257236	broad.mit.edu	37	4	7044163	7044163	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:7044163T>C	ENST00000310085.4	-	1	565	c.503A>G	c.(502-504)gAg>gGg	p.E168G	RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	168	Glu-rich.									endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						gtcctcttcctccccctccac	0.657000													3	48					0	0	3.59834e-05	0	0
NEIL3	55247	broad.mit.edu	37	4	178256880	178256880	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:178256880C>A	ENST00000264596.3	+	3	435	c.317C>A	c.(316-318)cCa>cAa	p.P106Q		NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	106					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		ATGATTAATCCACTTGAGTAT	0.338000								Base excision repair (BER), DNA glycosylases					7	139					0.000442599	0.00584094	0.000442599	1	0
GPR39	2863	broad.mit.edu	37	2	133175422	133175422	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:133175422C>G	ENST00000329321.3	+	1	1276	c.807C>G	c.(805-807)tcC>tcG	p.S269S		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	269						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGAGGAAGTCCGAGAGCGAAG	0.612000													4	97					0	0	3.59834e-05	0	0
INADL	10207	broad.mit.edu	37	1	62299334	62299334	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:62299334C>A	ENST00000371158.2	+	17	2103	c.1989C>A	c.(1987-1989)caC>caA	p.H663Q	INADL_ENST00000316485.6_Missense_Mutation_p.H663Q	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	663					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AGGTTGACCACAATATGGATG	0.368000													6	59					0.000157383	0.00236471	0.000157383	1	0
VPS8	23355	broad.mit.edu	37	3	184700374	184700374	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:184700374G>T	ENST00000437079.3	+	41	3612	c.3441G>T	c.(3439-3441)ttG>ttT	p.L1147F	VPS8_ENST00000436792.2_Missense_Mutation_p.L1145F|VPS8_ENST00000446204.2_Missense_Mutation_p.L1055F|VPS8_ENST00000287546.4_Missense_Mutation_p.L1147F	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1147							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TTCCGTTATTGGAGGCAATGA	0.393000													7	104					0.000442599	0.00584094	0.000442599	1	0
SEC23A	10484	broad.mit.edu	37	14	39543631	39543631	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:39543631G>C	ENST00000537403.1	-	5	1687	c.485C>G	c.(484-486)cCc>cGc	p.P162R	SEC23A_ENST00000536508.1_Missense_Mutation_p.P238R|SEC23A_ENST00000545328.2_Missense_Mutation_p.P335R|SEC23A_ENST00000307712.6_Missense_Mutation_p.P364R			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	364					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		AGTAAGGTTGGGACAGCATTT	0.353000													4	203					0	0	8.12818e-05	0	0
FASN	2194	broad.mit.edu	37	17	80045273	80045273	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:80045273G>T	ENST00000306749.2	-	20	3369	c.3151C>A	c.(3151-3153)Cgt>Agt	p.R1051S		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1051					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GCGGTGACACGGGTGGGCAGG	0.642000													4	53					0.000157383	0.00236471	0.000157383	1	0
LAG3	3902	broad.mit.edu	37	12	6884443	6884443	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:6884443G>T	ENST00000203629.2	+	5	1119	c.786G>T	c.(784-786)ctG>ctT	p.L262L	LAG3_ENST00000441671.2_Silent_p.L262L	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	262						integral to membrane	antigen binding|MHC class II protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CTTCAGGTCTGGAGCCCCCAA	0.597000													7	146					1.58986e-06	2.89309e-05	0.000673444	1	0
WNT5B	81029	broad.mit.edu	37	12	1742018	1742018	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:1742018G>A	ENST00000397196.2	+	3	507	c.275G>A	c.(274-276)tGg>tAg	p.W92*	WNT5B_ENST00000310594.3_Nonsense_Mutation_p.W92*|WNT5B_ENST00000542408.1_Nonsense_Mutation_p.W92*|WNT5B_ENST00000537031.1_Nonsense_Mutation_p.W92*	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	92					angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			CAGCGGCGGTGGAATTGCAGC	0.562000													6	137					0	0	0.000442599	0	0
SLC8A3	6547	broad.mit.edu	37	14	70517735	70517735	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:70517735G>C	ENST00000381269.2	-	6	2874	c.2121C>G	c.(2119-2121)acC>acG	p.T707T	SLC8A3_ENST00000394330.2_Silent_p.T64T|SLC8A3_ENST00000356921.2_Silent_p.T701T|SLC8A3_ENST00000357887.3_Silent_p.T705T|SLC8A3_ENST00000216568.7_Silent_p.T78T|SLC8A3_ENST00000528359.1_Silent_p.T705T|SLC8A3_ENST00000533541.1_Silent_p.T64T|SLC8A3_ENST00000534137.1_Silent_p.T704T	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	707					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CTGCACTGACGGTGATGGCCT	0.547000													5	44					0	0	8.12818e-05	0	0
MDN1	23195	broad.mit.edu	37	6	90428501	90428501	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:90428501C>G	ENST00000369393.3	-	42	6421	c.6306G>C	c.(6304-6306)ctG>ctC	p.L2102L	MDN1_ENST00000428876.1_Silent_p.L2102L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2102					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.L2102L(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAAATCCACCCAGCAGCTCAG	0.488000													4	110					0	0	3.59834e-05	0	0
FLNA	2316	broad.mit.edu	37	X	153592647	153592647	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:153592647G>C	ENST00000422373.1	-	14	2364	c.2116C>G	c.(2116-2118)Cca>Gca	p.P706A	FLNA_ENST00000369850.3_Missense_Mutation_p.P706A|FLNA_ENST00000344736.4_Missense_Mutation_p.P706A|FLNA_ENST00000360319.4_Missense_Mutation_p.P706A	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	706					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)					ACCCGAAGTGGGGCCTTGCCA	0.647000													4	155					0	0	8.12818e-05	0	0
FAM117B	150864	broad.mit.edu	37	2	203630192	203630192	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:203630192C>A	ENST00000303116.6	+	8	1485	c.743C>A	c.(742-744)cCa>cAa	p.P248Q	FAM117B_ENST00000392238.2_Missense_Mutation_p.P492Q	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	492										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						CATGAAATCCCAGCCTTTTAT	0.393000													8	315					0.000442599	0.00584094	0.000442599	1	0
GRIK1	2897	broad.mit.edu	37	21	31062116	31062116	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:31062116C>G	ENST00000399914.1	-	3	997	c.476G>C	c.(475-477)aGg>aCg	p.R159T	GRIK1_ENST00000327783.4_Missense_Mutation_p.R159T|GRIK1_ENST00000309434.7_Missense_Mutation_p.R159T|GRIK1_ENST00000399907.1_Missense_Mutation_p.R159T|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399913.1_Missense_Mutation_p.R159T|GRIK1_ENST00000399909.1_Missense_Mutation_p.R159T|GRIK1_ENST00000389125.3_Missense_Mutation_p.R159T|GRIK1_ENST00000535441.1_Missense_Mutation_p.R159T|GRIK1_ENST00000389124.2_Missense_Mutation_p.R159T			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	159					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CAGGATCGCCCTGCTGATAGC	0.488000													5	132					0	0	8.12818e-05	0	0
KRTAP13-2	337959	broad.mit.edu	37	21	31744193	31744193	+	Silent	SNP	T	T	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:31744193T>A	ENST00000399889.2	-	1	364	c.339A>T	c.(337-339)ggA>ggT	p.G113G		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	113						intermediate filament				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						AGCTCCTCGATCCATAGCCCA	0.582000													14	68					0	0	0.000219431	0	0
MET	4233	broad.mit.edu	37	7	116399539	116399539	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:116399539A>G	ENST00000397752.3	+	10	2559	c.2359A>G	c.(2359-2361)Aca>Gca	p.T787A	MET_ENST00000436117.2_Intron|MET_ENST00000318493.6_Missense_Mutation_p.T805A	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	787	IPT/TIG 3.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AAGGAACTTTACAGTGGTAAG	0.458000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				4	30					0	0	0.00024832	0	0
ZPLD1	131368	broad.mit.edu	37	3	102196387	102196387	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:102196387C>T	ENST00000306176.1	+	11	1321	c.1221C>T	c.(1219-1221)tgC>tgT	p.C407C	ZPLD1_ENST00000466937.1_Silent_p.C391C|ZPLD1_ENST00000491959.1_Silent_p.C391C	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	391						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TTCTTCTGTGCTCACTGGCCC	0.488000													5	108					0	0	0.000602214	0	0
PCDH18	54510	broad.mit.edu	37	4	138442438	138442438	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:138442438C>T	ENST00000344876.4	-	4	3539	c.3153G>A	c.(3151-3153)caG>caA	p.Q1051Q	PCDH18_ENST00000412923.2_Silent_p.Q1050Q|PCDH18_ENST00000507846.1_Silent_p.Q830Q|PCDH18_ENST00000510305.1_Silent_p.Q262Q|PCDH18_ENST00000511115.1_Silent_p.Q231Q	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	1051	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CCGCTACCCCCTGTGGGTAAC	0.562000													10	50					0	0	0.000673444	0	0
SPTBN5	51332	broad.mit.edu	37	15	42167107	42167107	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:42167107C>A	ENST00000320955.6	-	23	4662	c.4435G>T	c.(4435-4437)Gcc>Tcc	p.A1479S		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1479					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCCATGGAGGCGAGGGCAGCC	0.662000													4	33					3.59834e-05	0.000600898	3.59834e-05	1	0
OR2T3	343173	broad.mit.edu	37	1	248637423	248637423	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:248637423G>C	ENST00000359594.2	+	1	797	c.772G>C	c.(772-774)Ggt>Cgt	p.G258R		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTGCTCTTCGGTGCTTCCTT	0.547000													6	235					0	0	0.000274275	0	0
SRRM2	23524	broad.mit.edu	37	16	2811824	2811824	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:2811824G>C	ENST00000301740.8	+	11	1844	c.1295G>C	c.(1294-1296)cGg>cCg	p.R432P		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	432	Pro-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AAAGTTTCTCGGCATGCCAGC	0.547000													5	223					0	0	0.000442599	0	0
CCL20	6364	broad.mit.edu	37	2	228680196	228680196	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:228680196G>T	ENST00000409189.3	+	2	170	c.100G>T	c.(100-102)Gga>Tga	p.G34*	CCL20_ENST00000473642.1_3'UTR|CCL20_ENST00000358813.4_Nonsense_Mutation_p.G35*	NM_001130046.1|NM_004591.2	NP_001123518.1|NP_004582.1	P78556	CCL20_HUMAN	chemokine (C-C motif) ligand 20	35					cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity			cervix(1)|lung(2)	3		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		CTGCTGTCTTGGATACACAGA	0.363000													11	148					1.99824e-07	3.76484e-06	0.000566183	1	0
DHX30	22907	broad.mit.edu	37	3	47870539	47870539	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:47870539C>T	ENST00000446256.2	+	7	736	c.164C>T	c.(163-165)cCc>cTc	p.P55L	DHX30_ENST00000348968.4_Missense_Mutation_p.P66L|DHX30_ENST00000445061.1_Missense_Mutation_p.P94L|DHX30_ENST00000457607.1_Missense_Mutation_p.P122L	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	94	DRBM.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	p.P94L(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ATAAAATGGCCCAAGAGCGTG	0.498000													4	54					0	0	3.59834e-05	0	0
KLHL41	10324	broad.mit.edu	37	2	170377373	170377373	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:170377373G>T	ENST00000284669.1	+	5	1642	c.1565G>T	c.(1564-1566)tGg>tTg	p.W522L	RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.W460L|KLHL41_ENST00000463400.1_3'UTR|BBS5_ENST00000554017.1_Missense_Mutation_p.W460L	NM_006063.2	NP_006054.2			kelch-like family member 41																		ATACCTAGATGGGATGTAATG	0.333000													6	91					0.000442599	0.00584094	0.000442599	1	0
PLXDC2	84898	broad.mit.edu	37	10	20290736	20290736	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:20290736C>T	ENST00000377252.3	+	2	986	c.145C>T	c.(145-147)Cac>Tac	p.H49Y	PLXDC2_ENST00000377242.3_Missense_Mutation_p.H49Y	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	49						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						GGCCTTCCCTCACACAGAGGA	0.473000													9	43					0	0	0.000442599	0	0
SLC27A6	28965	broad.mit.edu	37	5	128324426	128324426	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:128324426G>C	ENST00000262462.4	+	3	1829	c.819G>C	c.(817-819)ctG>ctC	p.L273L	SLC27A6_ENST00000395266.1_Silent_p.L273L|SLC27A6_ENST00000506176.1_Silent_p.L273L			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	273					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CAGCTATCCTGGGAATTTCTG	0.353000													5	239					0	0	8.12818e-05	0	0
CHD7	55636	broad.mit.edu	37	8	61763180	61763180	+	Splice_Site	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:61763180G>C	ENST00000423902.2	+	26	6012	c.5534_splice	c.e26+1	p.G1845_splice	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1845					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.G1845fs*5(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGGTGGTGACGGGTAAGAAGG	0.468000													3	29					0	0	0.000602214	0	0
NES	10763	broad.mit.edu	37	1	156642361	156642361	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:156642361G>A	ENST00000368223.3	-	4	1751	c.1619C>T	c.(1618-1620)cCt>cTt	p.P540L		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	540	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTTTTCCAAAGGAACCTGGGA	0.458000													13	145					0	0	0.000151284	0	0
IRS4	8471	broad.mit.edu	37	X	107975913	107975913	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:107975913C>G	ENST00000372129.2	-	1	3738	c.3662G>C	c.(3661-3663)cGg>cCg	p.R1221P	RP6-24A23.6_ENST00000563887.1_Missense_Mutation_p.R2P	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1221						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TCTTGGCACCCGGCGACTGCG	0.592000													7	211					0	0	0.000151284	0	0
TMEM106A	113277	broad.mit.edu	37	17	41365169	41365169	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:41365169G>C	ENST00000331615.3	+	3	346	c.109G>C	c.(109-111)Ggt>Cgt	p.G37R	TMEM106A_ENST00000536052.1_Missense_Mutation_p.G37R|TMEM106A_ENST00000541594.1_Intron|TMEM106A_ENST00000588659.1_Missense_Mutation_p.G37R|TMEM106A_ENST00000592564.1_3'UTR	NM_145041.1	NP_659478.1	Q96A25	T106A_HUMAN	transmembrane protein 106A	37						integral to membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11		Breast(137;0.0164)		BRCA - Breast invasive adenocarcinoma(366;0.0917)		CTCCAGCACCGGTAGCAGCAA	0.552000													5	130					0	0	8.12818e-05	0	0
POTEH	23784	broad.mit.edu	37	22	16279248	16279248	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:16279248C>T	ENST00000343518.6	-	4	1026	c.975G>A	c.(973-975)gtG>gtA	p.V325V		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	325										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTAAAAATTTCACCACTTGCT	0.328000													22	833					0	0	0.000375601	0	0
PRKDC	5591	broad.mit.edu	37	8	48794604	48794604	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:48794604G>T	ENST00000314191.2	-	38	4884	c.4828C>A	c.(4828-4830)Cag>Aag	p.Q1610K	PRKDC_ENST00000338368.3_Missense_Mutation_p.Q1610K|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1611					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGGTGTTTCTGGTTTGCTCGC	0.443000								Non-homologous end-joining					11	141					0.000422831	0.00584094	0.000422831	1	0
ZNF410	57862	broad.mit.edu	37	14	74364869	74364869	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:74364869A>G	ENST00000555044.1	+	5	678	c.484A>G	c.(484-486)Att>Gtt	p.I162V	ZNF410_ENST00000540593.1_Missense_Mutation_p.I89V|ZNF410_ENST00000442160.3_Missense_Mutation_p.I179V|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000334521.4_Missense_Mutation_p.I109V|ZNF410_ENST00000556797.1_Missense_Mutation_p.I109V|ZNF410_ENST00000324593.6_Missense_Mutation_p.I162V	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		AGACAGTAGCATTCCATGGTT	0.498000													9	102					0	0	0.000274275	0	0
IGF1	3479	broad.mit.edu	37	12	102811690	102811690	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:102811690G>T	ENST00000307046.8	-	4	675	c.494C>A	c.(493-495)aCa>aAa	p.T165K	IGF1_ENST00000337514.6_Intron|IGF1_ENST00000456098.1_Intron|IGF1_ENST00000392904.1_Intron|IGF1_ENST00000424202.2_Intron	NM_001111285.1	NP_001104755.1	P05019	IGF1_HUMAN	insulin-like growth factor 1 (somatomedin C)	165					anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						ACTTGCTTCTGTCCCCTCCTT	0.468000													7	342					0.000274275	0.0038898	0.000274275	1	0
PLEKHH2	130271	broad.mit.edu	37	2	43965548	43965548	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:43965548G>T	ENST00000282406.4	+	20	3122	c.3012G>T	c.(3010-3012)caG>caT	p.Q1004H		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1004	MyTH4.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTTTAGCCCAGAGTGCTTTGC	0.398000													15	447					1.87028e-06	3.40129e-05	0.000229342	1	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858584	149858584	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:149858584C>G	ENST00000331380.2	+	1	60	c.60C>G	c.(58-60)tcC>tcG	p.S20S		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	20					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CGCGCTCGTCCCGCGCTGGCC	0.647000													4	116					0	0	0.000157383	0	0
CBLB	868	broad.mit.edu	37	3	105412384	105412384	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:105412384G>A	ENST00000264122.4	-	13	2329	c.2008C>T	c.(2008-2010)Cgg>Tgg	p.R670W	CBLB_ENST00000405772.1_Missense_Mutation_p.R670W|CBLB_ENST00000403724.1_Missense_Mutation_p.R670W|CBLB_ENST00000394027.3_Missense_Mutation_p.R692W	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	670	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	p.R670W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GGAGAAAGCCGGGGAGGAACA	0.413000			Mis S		AML								4	48					0	0	3.59834e-05	0	0
C21orf91	54149	broad.mit.edu	37	21	19169435	19169435	+	Splice_Site	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:19169435C>G	ENST00000284881.4	-	3	218	c.127_splice	c.e3-1	p.G43_splice	C21orf91_ENST00000400558.3_Splice_Site_p.G43_splice|C21orf91_ENST00000493464.1_5'UTR|AL109761.5_ENST00000428689.1_RNA|C21orf91_ENST00000400559.3_Splice_Site_p.G43_splice	NM_001100420.1|NM_017447.3	NP_001093890.1|NP_059143.3	Q9NYK6	EURL_HUMAN	chromosome 21 open reading frame 91	43										endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		CTTTGGTACCCCTATGGAAAA	0.348000													4	106					0	0	3.59834e-05	0	0
FAT3	120114	broad.mit.edu	37	11	92577213	92577213	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:92577213C>A	ENST00000298047.6	+	18	10697	c.10680C>A	c.(10678-10680)acC>acA	p.T3560T	FAT3_ENST00000525166.1_Silent_p.T3410T|FAT3_ENST00000409404.2_Silent_p.T3560T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3560	Cadherin 33.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCATTGTCACCATGGAGGATG	0.488000										TCGA Ovarian(4;0.039)			10	262					5.50884e-06	9.71621e-05	0.00010058	1	0
SCGN	10590	broad.mit.edu	37	6	25669793	25669793	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:25669793C>G	ENST00000377961.2	+	5	559	c.391C>G	c.(391-393)Cgc>Ggc	p.R131G	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	131	EF-hand 3.					extracellular region|transport vesicle membrane	calcium ion binding	p.R131S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TGCTGAGCTCCGCGTGAGTGT	0.408000													4	156					0	0	0.000157383	0	0
ITFG2	55846	broad.mit.edu	37	12	2933352	2933352	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:2933352C>G	ENST00000228799.2	+	12	1476	c.1337C>G	c.(1336-1338)cCc>cGc	p.P446R	ITFG2_ENST00000419778.2_Missense_Mutation_p.P269R|ITFG2_ENST00000542548.1_Missense_Mutation_p.P334R	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	446										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CTCCAGGATCCCACCTAGCTG	0.547000													4	78					0	0	3.59834e-05	0	0
ATP6V0E1	8992	broad.mit.edu	37	5	172447243	172447243	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:172447243G>T	ENST00000519374.1	+	3	259	c.155G>T	c.(154-156)tGg>tTg	p.W52L	ATP6V0E1_ENST00000265093.4_Missense_Mutation_p.W36L|ATP6V0E1_ENST00000519911.1_Intron|ATP6V0E1_ENST00000517669.1_Missense_Mutation_p.W52L	NM_003945.3	NP_003936.1	O15342	VA0E1_HUMAN	ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1	52					ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|membrane fraction|proton-transporting V-type ATPase, V0 domain|vacuole	proton-transporting ATPase activity, rotational mechanism			lung(2)	2	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTTTTAGTTGGCTGATTGCA	0.403000													6	69					3.59834e-05	0.000600898	3.59834e-05	1	0
CTPS1	1503	broad.mit.edu	37	1	41466748	41466748	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:41466748C>G	ENST00000372621.4	+	10	1561	c.1053C>G	c.(1051-1053)ccC>ccG	p.P351P	CTPS1_ENST00000541520.1_Silent_p.P120P|CTPS1_ENST00000372616.1_Silent_p.P351P	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN	CTP synthase 1	351	Glutamine amidotransferase type-1.				CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding			endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	AAGAAGAGCCCGTGCGCTACC	0.507000													4	44					0	0	0.000602214	0	0
FTO	79068	broad.mit.edu	37	16	53860322	53860322	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:53860322G>A	ENST00000471389.1	+	3	892	c.670G>A	c.(670-672)Ggg>Agg	p.G224R	FTO_ENST00000394647.3_Intron	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	224	Fe2OG dioxygenase domain.|Loop L1; predicted to block binding of double-stranded DNA or RNA.				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TTTTGGCATGGGGAAAATGGC	0.453000													5	104					0	0	8.12818e-05	0	0
NPY5R	4889	broad.mit.edu	37	4	164272154	164272154	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:164272154C>A	ENST00000515560.1	+	4	2251	c.729C>A	c.(727-729)tcC>tcA	p.S243S	NPY5R_ENST00000338566.3_Silent_p.S243S|NPY5R_ENST00000506953.1_Silent_p.S243S			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	243					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GTGGATTGTCCAACAAAGAAA	0.383000													7	144					0.000442599	0.00584094	0.000442599	1	0
UCP1	7350	broad.mit.edu	37	4	141489069	141489069	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:141489069G>C	ENST00000262999.3	-	2	264	c.189C>G	c.(187-189)acC>acG	p.T63T		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	63					brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					TTACCACAGCGGTGATTGTTC	0.537000													4	114					0	0	0.000157383	0	0
CPAMD8	27151	broad.mit.edu	37	19	17120125	17120125	+	Silent	SNP	T	T	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:17120125T>C	ENST00000443236.1	-	6	664	c.633A>G	c.(631-633)gaA>gaG	p.E211E	CPAMD8_ENST00000388925.4_Silent_p.E164E|CTD-2528A14.1_ENST00000595134.1_RNA	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	164						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						GGATGTAGGCTTCCAGCTGTA	0.562000													6	78					0	0	0.000157383	0	0
ABLIM2	84448	broad.mit.edu	37	4	8009897	8009897	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:8009897C>T	ENST00000318888.4	-	15	1481	c.610G>A	c.(610-612)Gat>Aat	p.D204N	ABLIM2_ENST00000361737.5_Missense_Mutation_p.D428N|ABLIM2_ENST00000428004.2_Missense_Mutation_p.D429N|ABLIM2_ENST00000505872.1_Missense_Mutation_p.D417N|ABLIM2_ENST00000447017.2_Missense_Mutation_p.D503N|ABLIM2_ENST00000407564.3_Missense_Mutation_p.D418N|ABLIM2_ENST00000341937.5_Missense_Mutation_p.D469N|ABLIM2_ENST00000545242.1_Missense_Mutation_p.D469N|ABLIM2_ENST00000546334.1_Missense_Mutation_p.D428N|ABLIM2_ENST00000361581.5_Missense_Mutation_p.D469N|ABLIM2_ENST00000514025.1_Missense_Mutation_p.D204N|ABLIM2_ENST00000296372.8_Missense_Mutation_p.D470N			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	469	LIM zinc-binding 3.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GTGTCTGCATCCCCCTTGAGC	0.542000													11	71					0	0	0.000673444	0	0
CUL4B	8450	broad.mit.edu	37	X	119675558	119675558	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:119675558C>A	ENST00000371322.5	-	10	1403	c.1342G>T	c.(1342-1344)Gat>Tat	p.D448Y	CUL4B_ENST00000404115.3_Missense_Mutation_p.D466Y|CUL4B_ENST00000336592.6_Missense_Mutation_p.D453Y	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	466					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CGGTTTTCATCAAGGAGGTTA	0.318000													11	315					0.000308642	0.00436061	0.000308642	1	0
ACE2	59272	broad.mit.edu	37	X	15610443	15610443	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:15610443C>A	ENST00000427411.1	-	4	564	c.348G>T	c.(346-348)ttG>ttT	p.L116F	ACE2_ENST00000252519.3_Missense_Mutation_p.L116F	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	116					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	GAATTGTGTTCAACTGCAAAT	0.313000													8	171					0.000442599	0.00584094	0.000442599	1	0
RAF1	5894	broad.mit.edu	37	3	12660099	12660099	+	Missense_Mutation	SNP	C	C	G	rs145611571		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:12660099C>G	ENST00000251849.4	-	2	561	c.122G>C	c.(121-123)cGg>cCg	p.R41P	RAF1_ENST00000442415.2_Missense_Mutation_p.R41P|RAF1_ENST00000542177.1_5'UTR	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog 1	41					activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	ATCTGATGCCCGGCGCTGATA	0.458000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				5	86					0	0	3.59834e-05	0	0
USPL1	10208	broad.mit.edu	37	13	31195958	31195958	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:31195958G>C	ENST00000255304.4	+	3	499	c.157G>C	c.(157-159)Gga>Cga	p.G53R	USPL1_ENST00000465952.1_3'UTR	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	53					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		TAGAGAGAAGGGAAAGTTAAA	0.303000													6	279					0	0	0.000157383	0	0
HSD17B13	345275	broad.mit.edu	37	4	88231451	88231451	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:88231451G>T	ENST00000328546.4	-	6	820	c.756C>A	c.(754-756)acC>acA	p.T252T	HSD17B13_ENST00000302219.6_Silent_p.T216T	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	252						extracellular region	binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TTTTCTTATTGGTAAGTATTC	0.313000													7	136					1.58986e-06	2.89309e-05	0.000673444	1	0
PIH1D1	55011	broad.mit.edu	37	19	49949860	49949860	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:49949860G>C	ENST00000262265.5	-	8	1014	c.779C>G	c.(778-780)cCg>cGg	p.P260R	PIH1D1_ENST00000596049.1_Missense_Mutation_p.P260R|PIH1D1_ENST00000602226.1_5'UTR	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	260					box C/D snoRNP assembly	pre-snoRNP complex				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GATCTGCAGCGGGATATAAGC	0.632000													4	113					0	0	3.59834e-05	0	0
FAM160A2	84067	broad.mit.edu	37	11	6239229	6239229	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:6239229G>A	ENST00000265978.4	-	9	1987	c.1629C>T	c.(1627-1629)tcC>tcT	p.S543S	FAM160A2_ENST00000449352.2_Silent_p.S529S|FAM160A2_ENST00000524416.1_Silent_p.S529S	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	529					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGGAGGCGGGGGATGCAGAAA	0.647000													4	36					0	0	0.00024832	0	0
HIVEP1	3096	broad.mit.edu	37	6	12121787	12121787	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:12121787C>T	ENST00000379388.2	+	4	2091	c.1759C>T	c.(1759-1761)Ctt>Ttt	p.L587F		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	587					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CAAGCCTGAACTTTCTAGTGC	0.498000													13	58					0	0	0.000308642	0	0
SH2D2A	9047	broad.mit.edu	37	1	156779522	156779522	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:156779522C>A	ENST00000392306.2	-	6	814	c.675G>T	c.(673-675)caG>caT	p.Q225H	SH2D2A_ENST00000368198.3_Missense_Mutation_p.Q197H|SH2D2A_ENST00000368199.3_Missense_Mutation_p.Q215H	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	215	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTGGGCTGTACTGGGGGTTTG	0.582000													5	133					0.000274275	0.0038898	0.000274275	1	0
UBR3	130507	broad.mit.edu	37	2	170885889	170885889	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:170885889G>C	ENST00000272793.5	+	31	4537	c.4487G>C	c.(4486-4488)cGg>cCg	p.R1496P	UBR3_ENST00000465630.1_3'UTR|UBR3_ENST00000418381.1_Missense_Mutation_p.R1496P|UBR3_ENST00000392631.1_Missense_Mutation_p.R317P			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1496					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TTGCACATGCGGCTTTATAGC	0.338000													4	63					0	0	3.59834e-05	0	0
KANK4	163782	broad.mit.edu	37	1	62737198	62737198	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:62737198C>T	ENST00000371153.4	-	4	2342	c.1964G>A	c.(1963-1965)gGa>gAa	p.G655E	KANK4_ENST00000371150.1_Missense_Mutation_p.G11E|KANK4_ENST00000354381.3_Missense_Mutation_p.G27E	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	655										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CCCATTACCTCCTGCACGGAA	0.463000													10	126					0	0	6.40141e-05	0	0
LMNB1	4001	broad.mit.edu	37	5	126171916	126171916	+	Splice_Site	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:126171916G>T	ENST00000261366.5	+	11	2082	c.1719_splice	c.e11-1	p.G574_splice	LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	574	Tail.				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		CCTCATCAGGGAACCCCAAGA	0.323000													10	290					1.5842e-08	3.05422e-07	0.000151284	1	0
MPHOSPH9	10198	broad.mit.edu	37	12	123687342	123687342	+	Missense_Mutation	SNP	G	G	T	rs141638342	by1000genomes	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:123687342G>T	ENST00000606320.1	-	10	1816	c.1610C>A	c.(1609-1611)cCg>cAg	p.P537Q	MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.P385Q|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.P385Q|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.P507Q			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	385					M phase of mitotic cell cycle	centriole|Golgi membrane		p.P385Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		ATATACTGACGGAAACGTGGA	0.438000													6	180					3.59834e-05	0.000600898	3.59834e-05	1	0
EPC2	26122	broad.mit.edu	37	2	149528937	149528937	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:149528937C>G	ENST00000258484.6	+	10	1735	c.1701C>G	c.(1699-1701)acC>acG	p.T567T		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	567					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		TATTGAACACCAGCAAGAATG	0.353000													4	155					0	0	0.000602214	0	0
DZIP1L	199221	broad.mit.edu	37	3	137803054	137803054	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:137803054C>A	ENST00000327532.2	-	8	1466	c.1104G>T	c.(1102-1104)caG>caT	p.Q368H	DZIP1L_ENST00000488595.1_Intron|DZIP1L_ENST00000469243.1_Missense_Mutation_p.Q368H	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	368						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						TCTTCTGATCCTGAGACAGGG	0.587000													8	224					0.000157383	0.00236471	0.000157383	1	0
VASP	7408	broad.mit.edu	37	19	46021212	46021212	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:46021212G>C	ENST00000245932.6	+	3	559	c.203G>C	c.(202-204)cGg>cCg	p.R68P	VASP_ENST00000586619.1_3'UTR	NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	68	WH1.				axon guidance|cell junction assembly|T cell receptor signaling pathway	actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane	actin binding|profilin binding|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		GCCATCGTCCGGGGTGTCAAG	0.677000													3	21					0	0	0.000602214	0	0
SRSF6	6431	broad.mit.edu	37	20	42089213	42089213	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:42089213C>A	ENST00000244020.3	+	5	755	c.649C>A	c.(649-651)Cga>Aga	p.R217R		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	217	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						CAGTAGATCTCGAAGTATCTC	0.423000													8	114					0.000442599	0.00584094	0.000442599	1	0
KIF6	221458	broad.mit.edu	37	6	39552729	39552729	+	Missense_Mutation	SNP	C	C	G	rs149838047	by1000genomes	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:39552729C>G	ENST00000287152.7	-	9	1116	c.1022G>C	c.(1021-1023)cGa>cCa	p.R341P	KIF6_ENST00000538893.1_Missense_Mutation_p.R341P|KIF6_ENST00000373216.3_Missense_Mutation_p.R341P|KIF6_ENST00000373215.3_Missense_Mutation_p.R341P|KIF6_ENST00000373213.4_Missense_Mutation_p.R180P	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	341					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GAGTGCCACTCGCTGTGCAAA	0.289000													4	329					0	0	0.000602214	0	0
ZNF296	162979	broad.mit.edu	37	19	45575731	45575731	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:45575731G>T	ENST00000303809.2	-	3	770	c.556C>A	c.(556-558)Cag>Aag	p.Q186K		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	186					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						GATTCTGTCTGGTAGATGGAC	0.672000													8	204					0.000442599	0.00584094	0.000442599	1	0
OGFR	11054	broad.mit.edu	37	20	61441914	61441914	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:61441914C>T	ENST00000370461.1	+	3	2583	c.306C>T	c.(304-306)gtC>gtT	p.V102V	OGFR_ENST00000370468.3_Silent_p.V154V|OGFR_ENST00000290291.6_Silent_p.V154V			Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	154					regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					TCAGGGAGGTCGAGGTGAGCC	0.622000													6	64					0	0	3.59834e-05	0	0
NR3C2	4306	broad.mit.edu	37	4	149075853	149075853	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:149075853G>T	ENST00000355292.3	-	5	2588	c.2226C>A	c.(2224-2226)ccC>ccA	p.P742P	NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000358102.3_Silent_p.P738P|NR3C2_ENST00000511528.1_Silent_p.P742P|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000344721.4_Silent_p.P738P			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	738	Steroid-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GGACCATAACGGGGGAAGGTG	0.502000													7	178					0.000442599	0.00584094	0.000442599	1	0
SLC27A6	28965	broad.mit.edu	37	5	128302275	128302275	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:128302275C>G	ENST00000262462.4	+	1	1455	c.445C>G	c.(445-447)Cgc>Ggc	p.R149G	SLC27A6_ENST00000395266.1_Missense_Mutation_p.R149G|SLC27A6_ENST00000506176.1_Missense_Mutation_p.R149G			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	149					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	p.R149S(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GAATTGCATCCGCGCCTGTGG	0.587000													4	42					0	0	0.000602214	0	0
CASZ1	54897	broad.mit.edu	37	1	10705124	10705124	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:10705124C>A	ENST00000377022.3	-	18	4035	c.3718G>T	c.(3718-3720)Ggg>Tgg	p.G1240W	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TGGTAGTGCCCACGCATTCGG	0.632000													6	53					0.000157383	0.00236471	0.000157383	1	0
FLG	2312	broad.mit.edu	37	1	152284030	152284030	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:152284030G>T	ENST00000368799.1	-	3	3367	c.3332C>A	c.(3331-3333)tCt>tAt	p.S1111Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1111	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAACGTCCAGACCTTCCCCC	0.582000									Ichthyosis				8	222					0.000219431	0.00327883	0.000219431	1	0
PPP1R32	220004	broad.mit.edu	37	11	61254657	61254657	+	Missense_Mutation	SNP	C	C	T	rs139486662		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:61254657C>T	ENST00000338608.2	+	11	1113	c.988C>T	c.(988-990)Cgg>Tgg	p.R330W	PPP1R32_ENST00000432063.2_Missense_Mutation_p.R310W	NM_145017.2	NP_659454.2	Q7Z5V6	CK066_HUMAN	protein phosphatase 1, regulatory subunit 32	330																	CATGTATGTCCGGAGCCCCTG	0.557000													5	159					0	0	8.12818e-05	0	0
ITIH1	3697	broad.mit.edu	37	3	52819189	52819189	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:52819189G>C	ENST00000273283.2	+	12	1561	c.1537G>C	c.(1537-1539)Ggg>Cgg	p.G513R	ITIH1_ENST00000542827.1_Missense_Mutation_p.G513R|ITIH1_ENST00000540715.1_Missense_Mutation_p.G371R|ITIH1_ENST00000537050.1_Missense_Mutation_p.G225R	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	513	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TGTGGTGGCCGGGCGCATTGC	0.577000													5	98					0	0	8.12818e-05	0	0
AXL	558	broad.mit.edu	37	19	41758839	41758839	+	Silent	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:41758839C>T	ENST00000301178.4	+	16	2083	c.1893C>T	c.(1891-1893)ttC>ttT	p.F631F	AXL_ENST00000359092.3_Silent_p.F622F|AXL_ENST00000593513.1_Silent_p.F363F	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	631	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						TACACAGCTTCCTCCTCTATT	0.512000													6	123					0	0	0.000157383	0	0
CNTN1	1272	broad.mit.edu	37	12	41312446	41312446	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:41312446G>C	ENST00000551295.2	+	4	217	c.100G>C	c.(100-102)Gag>Cag	p.E34Q	CNTN1_ENST00000347616.1_Missense_Mutation_p.E34Q|CNTN1_ENST00000547849.1_Missense_Mutation_p.E34Q|CNTN1_ENST00000547702.1_Missense_Mutation_p.E34Q|CNTN1_ENST00000360099.3_Missense_Mutation_p.E34Q|CNTN1_ENST00000348761.2_Missense_Mutation_p.E23Q	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	34					axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TGTAGTTTCTGAGGAAGACAA	0.323000													4	83					0	0	3.59834e-05	0	0
INTS8	55656	broad.mit.edu	37	8	95835714	95835714	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:95835714C>G	ENST00000523731.1	+	1	188	c.55C>G	c.(55-57)Ccg>Gcg	p.P19A	INTS8_ENST00000447247.1_Missense_Mutation_p.P19A	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	19					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					GCCCTGCACCCCGCCGCAGAC	0.721000													4	51					0	0	8.12818e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9046067	9046067	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:9046067C>G	ENST00000397910.4	-	5	35767	c.35564G>C	c.(35563-35565)gGg>gCg	p.G11855A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11857	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTTTCTGTCCCTGGATGGGT	0.493000													4	88					0	0	0.000157383	0	0
ATF6B	1388	broad.mit.edu	37	6	32083670	32083670	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:32083670C>G	ENST00000375201.4	-	18	1994	c.1949G>C	c.(1948-1950)aGg>aCg	p.R650T	ATF6B_ENST00000375203.3_Missense_Mutation_p.R653T			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	653					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						GTGAATCACCCTGGTGTCCAT	0.597000													5	307					0	0	0.000157383	0	0
NRP2	8828	broad.mit.edu	37	2	206588559	206588559	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:206588559C>G	ENST00000360409.3	+	5	1506	c.715C>G	c.(715-717)Cgt>Ggt	p.R239G	NRP2_ENST00000540178.1_Missense_Mutation_p.R239G|NRP2_ENST00000355117.4_Missense_Mutation_p.R239G|NRP2_ENST00000417189.1_Missense_Mutation_p.R239G|NRP2_ENST00000357785.5_Missense_Mutation_p.R239G|NRP2_ENST00000272849.3_Missense_Mutation_p.R239G|NRP2_ENST00000412873.2_Missense_Mutation_p.R239G|NRP2_ENST00000540841.1_Missense_Mutation_p.R239G|NRP2_ENST00000357118.4_Missense_Mutation_p.R239G	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	239	CUB 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CTCTGAACTTCGTTCATCGAC	0.517000													4	42					0	0	0.00024832	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96521777	96521777	+	Missense_Mutation	SNP	T	T	C	rs77768218		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:96521777T>C	ENST00000456556.1	-	63	4316	c.4232A>G	c.(4231-4233)cAt>cGt	p.H1411R	ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R					ankyrin repeat domain 36C									p.H662R(6)|p.H1411R(3)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AAGGTCTTCATGCTTTCTTTT	0.383000													5	23					0	0	8.12818e-05	0	0
ILDR1	286676	broad.mit.edu	37	3	121725861	121725861	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:121725861G>C	ENST00000273691.3	-	2	311	c.206C>G	c.(205-207)cCt>cGt	p.P69R	ILDR1_ENST00000393631.1_Missense_Mutation_p.P69R|ILDR1_ENST00000462014.1_Missense_Mutation_p.P81R|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000344209.5_Missense_Mutation_p.P69R	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	69	Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GTCAAAGATAGGGTCCTTGCA	0.537000													3	22					0	0	6.4e-05	0	0
FAM211B	388886	broad.mit.edu	37	22	24982253	24982253	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:24982253C>G	ENST00000318753.8	-	4	572	c.549G>C	c.(547-549)gcG>gcC	p.A183A	GGT1_ENST00000248923.4_Intron	NM_207644.2	NP_997527.2	Q2VPJ9	LRC6X_HUMAN	family with sequence similarity 211, member B	183																	GGTCCAGCACCGCCAGCACAG	0.652000													4	117					0	0	3.59834e-05	0	0
SPHK2	56848	broad.mit.edu	37	19	49132520	49132520	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:49132520C>G	ENST00000443164.1	+	5	2346	c.1641C>G	c.(1639-1641)ccC>ccG	p.P547P	SPHK2_ENST00000599029.1_Silent_p.P449P|SPHK2_ENST00000600537.1_Silent_p.P426P|SPHK2_ENST00000340932.3_Silent_p.P447P|SPHK2_ENST00000599748.1_Silent_p.P449P|SPHK2_ENST00000598088.1_Silent_p.P485P|SPHK2_ENST00000245222.4_Silent_p.P485P			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	485					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		TACACTCACCCGTCTCCGAAG	0.697000													4	121					0	0	0.000157383	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217329384	217329384	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:217329384C>A	ENST00000357276.4	+	13	2465	c.2135C>A	c.(2134-2136)tCt>tAt	p.S712Y	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.S712Y	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	712					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		AAAATCCCATCTGTCATGTAA	0.373000									Schimke Immuno-Osseous Dysplasia				7	117					0.000673444	0.0084606	0.000673444	1	0
LEF1	51176	broad.mit.edu	37	4	109088792	109088792	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:109088792G>C	ENST00000379951.2	-	1	1320	c.132C>G	c.(130-132)ccC>ccG	p.P44P	LEF1_ENST00000265165.1_Silent_p.P44P|LEF1-AS1_ENST00000436413.1_RNA|LEF1_ENST00000438313.2_Silent_p.P44P	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	44	Asp/Glu-rich (acidic).|CTNNB1-binding (By similarity).				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		CTTCCTCTTCGGGATGACTGA	0.597000													4	116					0	0	0.00024832	0	0
ZNF781	163115	broad.mit.edu	37	19	38160477	38160477	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:38160477G>T	ENST00000358582.4	-	4	1321	c.573C>A	c.(571-573)acC>acA	p.T191T	ZNF781_ENST00000590008.1_Silent_p.T191T|ZFP30_ENST00000586732.1_Intron	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						TGAGTTCTCTGGTGTTGAGTA	0.363000													7	150					0.000442599	0.00584094	0.000442599	1	0
CNGB1	1258	broad.mit.edu	37	16	57921871	57921871	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:57921871C>T	ENST00000564448.1	-	32	3392	c.3332G>A	c.(3331-3333)gGa>gAa	p.G1111E	CNGB1_ENST00000251102.8_Missense_Mutation_p.G1117E			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1117					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						ACCCATCTTTCCTGTCATAGC	0.612000													20	126					0	0	0.000229342	0	0
NCAPD3	23310	broad.mit.edu	37	11	134073791	134073791	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:134073791C>G	ENST00000534548.2	-	11	1290	c.1226G>C	c.(1225-1227)cGg>cCg	p.R409P		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	409					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AGTAAAAACCCGGTGTGGGAT	0.423000													4	123					0	0	3.59834e-05	0	0
SLC15A1	6564	broad.mit.edu	37	13	99373814	99373814	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:99373814G>A	ENST00000376503.5	-	7	546	c.491C>T	c.(490-492)tCc>tTc	p.S164F		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	164					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	GTAAAAGATGGAAAAAAATCT	0.393000													11	39					0	0	6.40141e-05	0	0
PPP1R7	5510	broad.mit.edu	37	2	242099828	242099828	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:242099828C>A	ENST00000234038.6	+	6	990	c.516C>A	c.(514-516)gtC>gtA	p.V172V	PPP1R7_ENST00000406106.3_Silent_p.V172V|PPP1R7_ENST00000407025.1_Silent_p.V172V|PPP1R7_ENST00000272983.8_Silent_p.V129V|PPP1R7_ENST00000404405.3_Silent_p.V166V|PPP1R7_ENST00000485630.1_3'UTR|PPP1R7_ENST00000402734.1_Silent_p.V113V|PPP1R7_ENST00000401987.1_Silent_p.V129V	NM_002712.1	NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	172						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		TCTTCTTGGTCAACAATAAAA	0.408000													5	82					2.7689e-08	5.32103e-07	8.12818e-05	1	0
SPATA20	64847	broad.mit.edu	37	17	48627929	48627929	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:48627929C>A	ENST00000006658.6	+	10	1251	c.1131C>A	c.(1129-1131)gcC>gcA	p.A377A	SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000356488.4_Silent_p.A361A|SPATA20_ENST00000393244.3_Silent_p.A317A	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	361					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CTGACGTGGCCAAAGGCATCC	0.602000											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	222					7.48243e-07	1.3784e-05	0.000442599	1	0
FADS2	9415	broad.mit.edu	37	11	61630830	61630830	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:61630830C>A	ENST00000278840.4	+	9	1687	c.1057C>A	c.(1057-1059)Cgt>Agt	p.R353S	FADS2_ENST00000257261.6_Missense_Mutation_p.R331S|FADS2_ENST00000521849.1_Missense_Mutation_p.R353S|FADS2_ENST00000522056.1_Missense_Mutation_p.R322S	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	353					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	GGAGGCCTACCGTGACTGGTT	0.567000													6	58					0.000274275	0.0038898	0.000274275	1	0
ERP44	23071	broad.mit.edu	37	9	102768848	102768848	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:102768848G>T	ENST00000262455.6	-	10	1155	c.956C>A	c.(955-957)cCt>cAt	p.P319H		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	319					cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						AGCGATTACAGGACAATCTGC	0.313000													7	144					0.000274275	0.0038898	0.000274275	1	0
AVIL	10677	broad.mit.edu	37	12	58201165	58201165	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:58201165C>A	ENST00000537081.1	-	12	1418	c.1419G>T	c.(1417-1419)acG>acT	p.T473T	AVIL_ENST00000257861.3_Silent_p.T480T|TSFM_ENST00000548851.1_Intron			O75366	AVIL_HUMAN	advillin	480	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GGCGTGGCTCCGTTCCCATCC	0.532000													6	130					0.000157383	0.00236471	0.000157383	1	0
DPRX	503834	broad.mit.edu	37	19	54139854	54139854	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:54139854G>T	ENST00000376650.1	+	3	239	c.188G>T	c.(187-189)tGg>tTg	p.W63L		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	63						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		CTTCAGGTCTGGTTCAAGAAT	0.363000													6	124					0.000442599	0.00584094	0.000442599	1	0
PLEKHH2	130271	broad.mit.edu	37	2	43937651	43937651	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:43937651G>T	ENST00000282406.4	+	14	2348	c.2238G>T	c.(2236-2238)caG>caT	p.Q746H		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	746	PH 1.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GAAAACCCCAGGGCCATATTG	0.284000													14	648					0.000566183	0.00746526	0.000566183	1	0
DMD	1756	broad.mit.edu	37	X	31227664	31227664	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:31227664G>T	ENST00000357033.4	-	65	9720	c.9514C>A	c.(9514-9516)Cct>Act	p.P3172T	DMD_ENST00000474231.1_Missense_Mutation_p.P712T|DMD_ENST00000378723.3_Missense_Mutation_p.P104T|DMD_ENST00000359836.1_Missense_Mutation_p.P712T|DMD_ENST00000378702.4_Missense_Mutation_p.P104T|DMD_ENST00000378707.3_Missense_Mutation_p.P712T|DMD_ENST00000361471.4_Missense_Mutation_p.P104T|DMD_ENST00000343523.2_Missense_Mutation_p.P712T|DMD_ENST00000541735.1_Missense_Mutation_p.P712T|DMD_ENST00000378680.2_Missense_Mutation_p.P104T|DMD_ENST00000378677.2_Missense_Mutation_p.P3168T	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3172	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACGCAGAGAGGGACGTTGACC	0.458000													7	154					0.000673444	0.0084606	0.000673444	1	0
OR5T3	390154	broad.mit.edu	37	11	56020415	56020415	+	Missense_Mutation	SNP	C	C	T	rs149435695		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:56020415C>T	ENST00000303059.3	+	1	740	c.740C>T	c.(739-741)tCc>tTc	p.S247F		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S247Y(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GTCCTCATTTCCTGTGATTTC	0.423000													18	148					0	0	0.000132079	0	0
TGFB3	7043	broad.mit.edu	37	14	76429804	76429804	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:76429804G>T	ENST00000238682.3	-	5	1078	c.781C>A	c.(781-783)Cgt>Agt	p.R261S	TGFB3_ENST00000556285.1_Missense_Mutation_p.R261S	NM_003239.2	NP_003230.1	P10600	TGFB3_HUMAN	transforming growth factor, beta 3	261					cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of cell proliferation|negative regulation of DNA replication|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of DNA replication|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.0169)		AGATCTCCACGGCCATGGTCA	0.577000													5	111					0.000157383	0.00236471	0.000157383	1	0
TDRD7	23424	broad.mit.edu	37	9	100249462	100249462	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:100249462G>C	ENST00000355295.4	+	16	3219	c.2924G>C	c.(2923-2925)aGg>aCg	p.R975T	TDRD7_ENST00000540902.1_Missense_Mutation_p.R295T|TDRD7_ENST00000422139.2_Missense_Mutation_p.R901T	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	975	Interacts with CABLES1 (By similarity).|Interacts with CDK17 (By similarity).				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				AGGTGGCACAGGGTGCTTTTA	0.353000													4	83					0	0	0.00024832	0	0
KRTAP19-5	337972	broad.mit.edu	37	21	31874312	31874312	+	Missense_Mutation	SNP	G	G	C	rs142713888		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:31874312G>C	ENST00000334151.2	-	1	123	c.97C>G	c.(97-99)Cgc>Ggc	p.R33G		NM_181611.1	NP_853642.1	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	33						intermediate filament	protein binding	p.R33C(1)		endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						CCCAGTCTGCGGAAGCTGCCA	0.587000													6	148					0	0	0.000157383	0	0
USH1C	10083	broad.mit.edu	37	11	17519757	17519757	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:17519757G>C	ENST00000005226.7	-	24	2441	c.2442C>G	c.(2440-2442)acC>acG	p.T814T	USH1C_ENST00000527720.1_Silent_p.T483T|USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000527020.1_Silent_p.T495T|USH1C_ENST00000318024.4_Silent_p.T514T	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	514					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CCTCAGCCAGGGTGTAGTCTG	0.577000													4	117					0	0	0.00024832	0	0
RALGDS	5900	broad.mit.edu	37	9	135975658	135975658	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:135975658G>C	ENST00000393160.3	-	17	2754	c.2401C>G	c.(2401-2403)Cgg>Ggg	p.R801G	RALGDS_ENST00000372062.3_Missense_Mutation_p.R827G|RALGDS_ENST00000542690.1_Missense_Mutation_p.R927G|RALGDS_ENST00000372050.3_Missense_Mutation_p.R856G|RALGDS_ENST00000372047.3_Missense_Mutation_p.R844G|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000393157.3_Missense_Mutation_p.R855G	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	856	Ras-associating.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GACTTACTCCGGTCATCTGAG	0.582000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								5	171					0	0	8.12818e-05	0	0
COL14A1	7373	broad.mit.edu	37	8	121256207	121256207	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:121256207G>C	ENST00000297848.3	+	20	2709	c.2439G>C	c.(2437-2439)acG>acC	p.T813T	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Silent_p.T813T|COL14A1_ENST00000247781.3_Silent_p.T718T	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	813	Fibronectin type-III 6.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.T813T(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CCATCTACACGGATGGCGAAG	0.478000													4	146					0	0	3.59834e-05	0	0
HTR3B	9177	broad.mit.edu	37	11	113802502	113802502	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:113802502C>T	ENST00000260191.2	+	4	538	c.281C>T	c.(280-282)tCc>tTc	p.S94F	HTR3B_ENST00000537778.1_Missense_Mutation_p.S83F	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	94					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		GAATTTTTATCCTGGAACTCC	0.413000													15	74					0	0	0.000566183	0	0
USP32	84669	broad.mit.edu	37	17	58348745	58348745	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:58348745C>A	ENST00000300896.4	-	6	863	c.669G>T	c.(667-669)ttG>ttT	p.L223F	USP32_ENST00000393003.3_Missense_Mutation_p.L223F	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	223					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			GTGGTGAAACCAATGGGCCAA	0.413000													6	86					0.000442599	0.00584094	0.000442599	1	0
PSG3	5671	broad.mit.edu	37	19	43237123	43237123	+	Silent	SNP	C	C	G	rs144410961	by1000genomes	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:43237123C>G	ENST00000327495.5	-	3	706	c.522G>C	c.(520-522)ccG>ccC	p.P174P	PSG3_ENST00000595140.1_Silent_p.P174P	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	174	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				AGCTTGCGTCCGGAGTCTCAG	0.522000													4	200					0	0	0.00024832	0	0
PAQR3	152559	broad.mit.edu	37	4	79860262	79860262	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:79860262G>A	ENST00000512733.1	-	1	330	c.117C>T	c.(115-117)tcC>tcT	p.S39S	PAQR3_ENST00000295462.3_Silent_p.S39S|PAQR3_ENST00000380645.4_Silent_p.S39S	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	39						Golgi membrane|integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						TGTCCTTGAGGGACCCGGGGA	0.637000													10	76					0	0	6.40141e-05	0	0
GRHL3	57822	broad.mit.edu	37	1	24663145	24663145	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:24663145C>T	ENST00000361548.4	+	4	670	c.440C>T	c.(439-441)cCc>cTc	p.P147L	GRHL3_ENST00000356046.2_Missense_Mutation_p.P101L|GRHL3_ENST00000350501.5_Missense_Mutation_p.P147L|GRHL3_ENST00000236255.4_Missense_Mutation_p.P152L|GRHL3_ENST00000530984.1_3'UTR|GRHL3_ENST00000342072.4_Missense_Mutation_p.P54L	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	147					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		AAGGCAGCTCCCCTCCCTGCA	0.562000													17	127					0	0	0.000422831	0	0
FANCI	55215	broad.mit.edu	37	15	89804908	89804908	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:89804908G>T	ENST00000310775.7	+	5	467	c.381G>T	c.(379-381)ttG>ttT	p.L127F	FANCI_ENST00000567996.1_Missense_Mutation_p.L127F|FANCI_ENST00000451393.2_5'UTR|FANCI_ENST00000300027.8_Missense_Mutation_p.L127F	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	127					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GAAAATCTTTGGAGTTACTAC	0.393000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				8	204					2.17888e-05	0.00037262	0.000442599	1	0
PLCG1	5335	broad.mit.edu	37	20	39795007	39795007	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:39795007C>G	ENST00000373272.2	+	17	2378	c.1973C>G	c.(1972-1974)cCa>cGa	p.P658R	PLCG1_ENST00000244007.3_Missense_Mutation_p.P658R|PLCG1_ENST00000373271.1_Missense_Mutation_p.P658R	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	658					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GAGCCTGTCCCACAGACCAAC	0.612000													4	77					0	0	0.000602214	0	0
AOC2	314	broad.mit.edu	37	17	41001306	41001306	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:41001306G>C	ENST00000253799.3	+	2	1819	c.1792G>C	c.(1792-1794)Ggg>Cgg	p.G598R	AOC2_ENST00000452774.2_Splice_Site_p.G598_splice	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	598					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TCACCAGCGCGGGTACCGAAT	0.622000													4	104					0	0	3.59834e-05	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1																						ATCTTCTGCAATTCGGAGTCC	0.652000													4	77					0	0	0.000602214	0	0
EREG	2069	broad.mit.edu	37	4	75246760	75246760	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:75246760C>A	ENST00000244869.2	+	3	350	c.184C>A	c.(184-186)Caa>Aaa	p.Q62K		NM_001432.2	NP_001423.1	O14944	EREG_HUMAN	epiregulin	62					angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			ACGTGTGGCTCAAGTGTCAAT	0.398000													6	128					0.000673444	0.0084606	0.000673444	1	0
ZNF345	25850	broad.mit.edu	37	19	37369059	37369059	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:37369059C>G	ENST00000529555.1	+	2	2115	c.1327C>G	c.(1327-1329)Cag>Gag	p.Q443E	ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.Q443E|ZNF345_ENST00000420450.1_Missense_Mutation_p.Q443E			Q14585	ZN345_HUMAN	zinc finger protein 345	443					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGCCTTACTCAGCATCAGAG	0.423000													4	148					0	0	3.59834e-05	0	0
KIAA1109	84162	broad.mit.edu	37	4	123097015	123097015	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:123097015G>T	ENST00000264501.4	+	6	677	c.304G>T	c.(304-306)Gga>Tga	p.G102*	KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.G102*|KIAA1109_ENST00000455637.1_Nonsense_Mutation_p.G102*			Q2LD37	K1109_HUMAN	KIAA1109	102					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GATTCAAGATGGATTCATCAT	0.284000													6	71					0.000157383	0.00236471	0.000157383	1	0
DHPS	1725	broad.mit.edu	37	19	12792466	12792466	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:12792466C>G	ENST00000210060.7	-	1	250	c.115G>C	c.(115-117)Ggt>Cgt	p.G39R	DHPS_ENST00000351660.5_Missense_Mutation_p.G39R	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	39					peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8					Sulfadoxine(DB01299)	TAATTCACACCGCGGTTGAAG	0.657000													4	45					0	0	3.59834e-05	0	0
SCPEP1	59342	broad.mit.edu	37	17	55075781	55075781	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:55075781C>A	ENST00000262288.3	+	10	971	c.916C>A	c.(916-918)Cga>Aga	p.R306R		NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	306					proteolysis	extracellular region	serine-type carboxypeptidase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					ACACCTACAACGAGATGCCTT	0.438000													6	120					0.000157383	0.00236471	0.000157383	1	0
ATRNL1	26033	broad.mit.edu	37	10	117308989	117308989	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:117308989G>C	ENST00000355044.3	+	26	3864	c.3738G>C	c.(3736-3738)ctG>ctC	p.L1246L	ATRNL1_ENST00000303745.7_Silent_p.L39L|ATRNL1_ENST00000423111.2_Silent_p.L297L	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1246						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CCTTATTGCTGGTGGCTGCTG	0.323000													4	76					0	0	3.59834e-05	0	0
HECTD2	143279	broad.mit.edu	37	10	93244936	93244936	+	Splice_Site	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:93244936G>T	ENST00000446394.1	+	11	1082		c.e11-1		HECTD2_ENST00000298068.5_Splice_Site|HECTD2_ENST00000498446.1_Splice_Site|HECTD2_ENST00000371667.1_Splice_Site|HECTD2_ENST00000536715.1_Splice_Site			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						TATCTTTACAGATACTGCAAA	0.303000													8	153					0.000673444	0.0084606	0.000673444	1	0
ATP8B2	57198	broad.mit.edu	37	1	154314975	154314975	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:154314975G>C	ENST00000368489.3	+	14	1362	c.1362G>C	c.(1360-1362)ctG>ctC	p.L454L		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	440					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTGACGTCCTGGGACACAAAG	0.478000													5	94					0	0	3.59834e-05	0	0
PLBD2	196463	broad.mit.edu	37	12	113825582	113825582	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:113825582G>C	ENST00000280800.3	+	11	1504	c.1473G>C	c.(1471-1473)ctG>ctC	p.L491L	PLBD2_ENST00000545182.2_Silent_p.L459L	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	491					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CTCTGTCACTGTGCAAAGCCT	0.592000													4	247					0	0	3.59834e-05	0	0
ALPK2	115701	broad.mit.edu	37	18	56165303	56165303	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:56165303C>G	ENST00000361673.3	-	12	6487	c.6274G>C	c.(6274-6276)Ggc>Cgc	p.G2092R		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	2092	Alpha-type protein kinase.			G -> D (in Ref. 1; BX647796).			ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GTTGCTATGCCAACGTCAGTT	0.498000													4	79					0	0	0.000157383	0	0
LHX8	431707	broad.mit.edu	37	1	75609546	75609546	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:75609546G>A	ENST00000294638.5	+	7	1291	c.627G>A	c.(625-627)gtG>gtA	p.V209V	LHX8_ENST00000356261.3_Silent_p.V199V	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	209						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						GGATTAGTGTGGAAGGTGCCC	0.408000													9	47					0	0	0.000442599	0	0
LRRC28	123355	broad.mit.edu	37	15	99892666	99892666	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:99892666G>A	ENST00000301981.3	+	7	925	c.685G>A	c.(685-687)Ggg>Agg	p.G229R	LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000422500.2_Missense_Mutation_p.G160R|LRRC28_ENST00000442993.2_3'UTR|LRRC28_ENST00000447360.2_Missense_Mutation_p.G229R	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	229										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			TAAAGTCATCGGGTGCAGTGG	0.373000													5	120					0	0	0.000602214	0	0
VPS35	55737	broad.mit.edu	37	16	46710538	46710538	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:46710538G>C	ENST00000299138.7	-	8	929	c.871C>G	c.(871-873)Cag>Gag	p.Q291E	VPS35_ENST00000568642.1_5'UTR	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	291					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TTTACATTCTGGTGTAACTCA	0.353000													6	68					0	0	8.12818e-05	0	0
PSMD2	5708	broad.mit.edu	37	3	184022170	184022170	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:184022170C>G	ENST00000310118.4	+	12	2088	c.1530C>G	c.(1528-1530)tcC>tcG	p.S510S	PSMD2_ENST00000439383.1_Silent_p.S380S|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000435761.1_Silent_p.S351S	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	510					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	ATTCAAAGTCCAGCATGGAGG	0.448000													4	170					0	0	8.12818e-05	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3667345	3667345	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:3667345G>C	ENST00000335312.3	-	2	189	c.101C>G	c.(100-102)gCt>gGt	p.A34G	PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.A34G|PIP5K1C_ENST00000589578.1_Missense_Mutation_p.A34G|PIP5K1C_ENST00000539785.1_Missense_Mutation_p.A34G	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	34					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		CTTCTTCTGAGCCAAACCTGC	0.657000													3	40					0	0	3.59834e-05	0	0
PRPH2	5961	broad.mit.edu	37	6	42689554	42689554	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:42689554G>T	ENST00000230381.5	-	1	758	c.519C>A	c.(517-519)gaC>gaA	p.D173E		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	173			D -> V (in RP7).		cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TCTCAAACCAGTCCCGAAAAC	0.502000													7	192					0.000274275	0.0038898	0.000274275	1	0
OR56A3	390083	broad.mit.edu	37	11	5969438	5969438	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:5969438C>T	ENST00000329564.6	+	1	869	c.862C>T	c.(862-864)Cct>Tct	p.P288S		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATGTCATTCCTGCAGCCCT	0.483000													11	89					0	0	0.000673444	0	0
APLP2	334	broad.mit.edu	37	11	129999969	129999969	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:129999969C>G	ENST00000263574.5	+	11	1564	c.1492C>G	c.(1492-1494)Cgt>Ggt	p.R498G	APLP2_ENST00000345598.5_Missense_Mutation_p.R269G|APLP2_ENST00000338167.5_Missense_Mutation_p.R498G|APLP2_ENST00000543137.1_Missense_Mutation_p.R405G|APLP2_ENST00000539648.1_Missense_Mutation_p.R286G|APLP2_ENST00000278756.7_Missense_Mutation_p.R508G|APLP2_ENST00000528499.1_Missense_Mutation_p.R442G	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	498					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GCGTTATGTCCGTGCTGAGAA	0.463000													4	137					0	0	0.00024832	0	0
NPM1	4869	broad.mit.edu	37	5	170834773	170834773	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:170834773C>G	ENST00000296930.5	+	10	1142	c.841C>G	c.(841-843)Caa>Gaa	p.Q281E	NPM1_ENST00000351986.6_Missense_Mutation_p.Q252E|NPM1_ENST00000517671.1_Missense_Mutation_p.Q281E	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	281	Required for nucleolar localization.				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding	p.D280_E282del(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GATGACTGACCAAGAGGTAAC	0.358000			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""								4	62					0	0	3.59834e-05	0	0
ABCC9	10060	broad.mit.edu	37	12	21965074	21965074	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:21965074C>G	ENST00000261200.4	-	34	4119	c.4120G>C	c.(4120-4122)Ggg>Cgg	p.G1374R	ABCC9_ENST00000345162.2_Missense_Mutation_p.G1338R|ABCC9_ENST00000261201.4_Missense_Mutation_p.G1374R	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1374	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATGTCTATCCCATCAATGACA	0.328000													4	63					0	0	3.59834e-05	0	0
GHR	2690	broad.mit.edu	37	5	42718618	42718618	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:42718618C>A	ENST00000230882.4	+	10	1199	c.1009C>A	c.(1009-1011)Cac>Aac	p.H337N	GHR_ENST00000357703.3_Missense_Mutation_p.H315N|GHR_ENST00000513625.1_3'UTR|GHR_ENST00000537449.1_Missense_Mutation_p.H150N	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	337					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ACCCGAATTCCACAGTGATGA	0.373000													8	229					1.12685e-05	0.000195397	0.000274275	1	0
ATP11B	23200	broad.mit.edu	37	3	182590272	182590272	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:182590272C>G	ENST00000323116.5	+	18	2255	c.1995C>G	c.(1993-1995)ttC>ttG	p.F665L		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	665					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CAGCTGTTTTCCAGTTCATAG	0.363000													5	112					0	0	0.000602214	0	0
PARP10	84875	broad.mit.edu	37	8	145059111	145059111	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:145059111G>T	ENST00000313028.7	-	5	1153	c.1059C>A	c.(1057-1059)ccC>ccA	p.P353P	PARP10_ENST00000525773.1_Silent_p.P365P|PARP10_ENST00000524918.1_Silent_p.P353P	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	353						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAGACCCCATGGGCATCGAGC	0.642000													7	98					3.07112e-06	5.5112e-05	6.40141e-05	1	0
RHBDD1	84236	broad.mit.edu	37	2	227731999	227731999	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:227731999G>C	ENST00000392062.2	+	5	1055	c.531G>C	c.(529-531)tgG>tgC	p.W177C	RHBDD1_ENST00000341329.3_Missense_Mutation_p.W177C	NM_001167608.1	NP_001161080.1	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	177						integral to membrane	serine-type endopeptidase activity			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		TTGCTTGTTGGGTCGAACTTG	0.398000													5	167					0	0	8.12818e-05	0	0
SGCG	6445	broad.mit.edu	37	13	23808844	23808844	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr13:23808844C>G	ENST00000218867.3	+	3	414	c.290C>G	c.(289-291)tCc>tGc	p.S97C	SGCG_ENST00000537476.1_Missense_Mutation_p.S97C|SGCG_ENST00000545013.1_Missense_Mutation_p.S97C	NM_000231.2	NP_000222.1	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	97					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		GAAATACACTCCAGAGTGGTA	0.338000													4	201					0	0	3.59834e-05	0	0
EVPL	2125	broad.mit.edu	37	17	74003754	74003754	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:74003754G>C	ENST00000301607.3	-	22	5785	c.5532C>G	c.(5530-5532)gcC>gcG	p.A1844A	EVPL_ENST00000586740.1_Silent_p.A1866A	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1844	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCTTGGCCACGGCCGTCTTGA	0.602000													4	139					0	0	0.00024832	0	0
PROS1	5627	broad.mit.edu	37	3	93593220	93593220	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:93593220C>T	ENST00000394236.3	-	15	2216	c.1900G>A	c.(1900-1902)Gcc>Acc	p.A634T	PROS1_ENST00000407433.1_Missense_Mutation_p.A503T	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	634	Laminin G-like 2.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TTATAAAAGGCATTCACTGGT	0.363000													8	54					0	0	0.000219431	0	0
NR1D2	9975	broad.mit.edu	37	3	23997564	23997564	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:23997564G>C	ENST00000312521.4	+	3	639	c.320G>C	c.(319-321)gGg>gCg	p.G107A	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117.3	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	107					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						AAAGTCTGTGGGGATGTGGCG	0.418000													4	177					0	0	0.000157383	0	0
PPP4C	5531	broad.mit.edu	37	16	30095042	30095042	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:30095042C>A	ENST00000279387.7	+	7	712	c.544C>A	c.(544-546)Cga>Aga	p.R182R	PPP4C_ENST00000561610.1_Silent_p.R182R	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	182					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						GACAATCGACCGAAAGCAAGA	0.622000													6	102					1.06961e-07	2.02547e-06	0.000157383	1	0
KIF11	3832	broad.mit.edu	37	10	94368822	94368822	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:94368822G>T	ENST00000260731.3	+	5	523	c.433G>T	c.(433-435)Gag>Tag	p.E145*		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	145	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCAAATTTTTGAGAAACTTAC	0.343000													15	487					5.35267e-07	9.96525e-06	9.7654e-05	1	0
PRPSAP2	5636	broad.mit.edu	37	17	18785899	18785899	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr17:18785899C>G	ENST00000268835.2	+	7	714	c.431C>G	c.(430-432)aCt>aGt	p.T144S	PRPSAP2_ENST00000419071.2_Missense_Mutation_p.T104S|PRPSAP2_ENST00000542013.1_Missense_Mutation_p.T144S|PRPSAP2_ENST00000536323.1_Missense_Mutation_p.T58S	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	144					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						CATCTTATTACTATGGATTTA	0.333000													6	401					0	0	0.000274275	0	0
LGR5	8549	broad.mit.edu	37	12	71978082	71978082	+	Missense_Mutation	SNP	G	G	C	rs149859128		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:71978082G>C	ENST00000266674.5	+	18	2603	c.2292G>C	c.(2290-2292)atG>atC	p.M764I	LGR5_ENST00000540815.2_Missense_Mutation_p.M740I|LGR5_ENST00000536515.1_Missense_Mutation_p.M692I			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	764						integral to plasma membrane	protein-hormone receptor activity	p.M764I(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						ACTGCTCTATGGTAAAACACA	0.443000													6	402					0	0	3.59834e-05	0	0
PREX1	57580	broad.mit.edu	37	20	47361608	47361608	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:47361608G>C	ENST00000396220.1	-	3	390	c.368C>G	c.(367-369)cCg>cGg	p.P123R	PREX1_ENST00000371941.3_Missense_Mutation_p.P123R			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	123	DH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.P123Q(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CTGCGGCTCCGGGTGTAAACA	0.483000													8	215					0	0	0.000274275	0	0
CPAMD8	27151	broad.mit.edu	37	19	17039886	17039886	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:17039886C>G	ENST00000443236.1	-	24	3182	c.3151G>C	c.(3151-3153)Ggg>Cgg	p.G1051R		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1004						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						TTCTGATGCCCCCCCAGGACG	0.592000													4	38					0	0	0.00024832	0	0
PHOX2B	8929	broad.mit.edu	37	4	41748193	41748193	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:41748193C>G	ENST00000226382.2	-	3	935	c.576G>C	c.(574-576)ccG>ccC	p.P192P		NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	192					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						CAGTGCTGTCCGGGTCAGTGC	0.716000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				4	71					0	0	0.00024832	0	0
PCYOX1L	78991	broad.mit.edu	37	5	148747771	148747771	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:148747771G>T	ENST00000514349.1	+	5	1348	c.769G>T	c.(769-771)Ggt>Tgt	p.G257C	PCYOX1L_ENST00000274569.4_Missense_Mutation_p.G347C			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	347					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCTACTTCGGTTTCCCAGA	0.547000											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	184					0.000673444	0.0084606	0.000673444	1	0
PDHA1	5160	broad.mit.edu	37	X	19373504	19373504	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:19373504G>A	ENST00000379806.5	+	8	900	c.755G>A	c.(754-756)tGg>tAg	p.W252*	PDHA1_ENST00000545074.1_Nonsense_Mutation_p.W221*|PDHA1_ENST00000540249.1_Nonsense_Mutation_p.W183*|PDHA1_ENST00000422285.2_Nonsense_Mutation_p.W214*	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	214					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	GCAGCTTTGTGGAAATTACCT	0.443000													26	197					0	0	0.000491102	0	0
SYNE4	163183	broad.mit.edu	37	19	36499142	36499142	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:36499142G>C	ENST00000324444.3	-	2	367	c.256C>G	c.(256-258)Cca>Gca	p.P86A	SYNE4_ENST00000340477.5_Missense_Mutation_p.P86A	NM_001039876.1	NP_001034965.1			spectrin repeat containing, nuclear envelope family member 4																		CCCCCAGCTGGGTCCTCGTAG	0.642000													3	33					0	0	6.4e-05	0	0
TNR	7143	broad.mit.edu	37	1	175360543	175360543	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:175360543G>C	ENST00000367674.1	-	7	2096	c.1388C>G	c.(1387-1389)cCc>cGc	p.P463R	TNR_ENST00000263525.2_Missense_Mutation_p.P463R	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	463	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AACATCGCTGGGGACCTGAGC	0.512000													4	50					0	0	0.000157383	0	0
DARC	2532	broad.mit.edu	37	1	159175443	159175443	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:159175443G>C	ENST00000537147.1	+	3	1057	c.214G>C	c.(214-216)Ggt>Cgt	p.G72R	DARC_ENST00000368121.2_Missense_Mutation_p.G74R|DARC_ENST00000368122.2_Missense_Mutation_p.G72R			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	72					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CAGTGTCCTGGGTATCCTAGC	0.592000													4	121					0	0	3.59834e-05	0	0
MITF	4286	broad.mit.edu	37	3	70014048	70014048	+	Silent	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:70014048G>C	ENST00000352241.4	+	10	1375	c.1212G>C	c.(1210-1212)acG>acC	p.T404T	MITF_ENST00000472437.1_Silent_p.T352T|MITF_ENST00000328528.6_Silent_p.T403T|MITF_ENST00000314589.5_Silent_p.T388T|MITF_ENST00000531774.1_Silent_p.T241T|MITF_ENST00000314557.6_Silent_p.T297T|MITF_ENST00000394351.3_Silent_p.T303T|MITF_ENST00000448226.2_Silent_p.T410T|MITF_ENST00000394355.2_Silent_p.T379T	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	410	DNA binding regulation.				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		TTCCATCCACGGGTCTCTGCT	0.463000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						4	107					0	0	0.00024832	0	0
RQCD1	9125	broad.mit.edu	37	2	219449406	219449406	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:219449406C>T	ENST00000273064.6	+	4	767	c.392C>T	c.(391-393)cCc>cTc	p.P131L	RQCD1_ENST00000542068.1_Missense_Mutation_p.P131L|RQCD1_ENST00000509807.2_Missense_Mutation_p.P131L|RQCD1_ENST00000295701.5_Missense_Mutation_p.P131L	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	131					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAAACACGTCCCTTTGAGTAT	0.423000													19	234					0	0	0.000175454	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33402959	33402959	+	Silent	SNP	A	A	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:33402959A>G	ENST00000418600.2	+	6	641	c.540A>G	c.(538-540)tcA>tcG	p.S180S	SYNGAP1_ENST00000428982.2_Silent_p.S121S|SYNGAP1_ENST00000293748.5_Silent_p.S180S|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	180	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TTAAGGAGTCACACTCTCATG	0.498000													4	162					0	0	0.00024832	0	0
TMEM17	200728	broad.mit.edu	37	2	62729907	62729907	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:62729907C>A	ENST00000335390.5	-	2	334	c.123G>T	c.(121-123)ttG>ttT	p.L41F		NM_198276.2	NP_938017.2	Q86X19	TMM17_HUMAN	transmembrane protein 17	41						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			TCTGCAGTGCCAAACTGGAGA	0.358000													7	160					8.12818e-05	0.00129777	8.12818e-05	1	0
FRG1B	284802	broad.mit.edu	37	20	29631557	29631557	+	Missense_Mutation	SNP	A	A	G	rs11525721	by1000genomes	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:29631557A>G	ENST00000278882.3	+	7	733	c.353A>G	c.(352-354)aAa>aGa	p.K118R	FRG1B_ENST00000358464.4_Missense_Mutation_p.K118R														p.K118R(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGTGCTGAAAAAGAAACCAAG	0.333000													5	121					0	0	8.12818e-05	0	0
TKTL1	8277	broad.mit.edu	37	X	153557975	153557975	+	Silent	SNP	G	G	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chrX:153557975G>T	ENST00000369915.3	+	13	1917	c.1728G>T	c.(1726-1728)ctG>ctT	p.L576L	TKTL1_ENST00000369912.2_Silent_p.L520L|TKTL1_ENST00000217905.7_Silent_p.L316L	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	576					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-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)					AGGAATTGCTGGATATGTATG	0.502000													7	140					3.86212e-05	0.000638159	0.000673444	1	0
SMAD7	4092	broad.mit.edu	37	18	46474773	46474773	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr18:46474773C>A	ENST00000262158.2	-	2	934	c.648G>T	c.(646-648)atG>atT	p.M216I	SMAD7_ENST00000589634.1_Missense_Mutation_p.M216I|SMAD7_ENST00000591805.1_Start_Codon_SNP_p.M1I	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	216	Important for interaction with SMURF2.				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					TGAGAAAATCCATCGGGTATC	0.393000													8	145					9.31168e-06	0.000163173	0.000151284	1	0
PIK3CD	5293	broad.mit.edu	37	1	9782034	9782034	+	Splice_Site	SNP	G	G	C			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:9782034G>C	ENST00000536656.1	+	17	2337	c.2127_splice	c.e17-1	p.G710_splice	PIK3CD_ENST00000543390.1_3'UTR|PIK3CD_ENST00000377346.4_Splice_Site_p.G686_splice|PIK3CD_ENST00000361110.2_Splice_Site_p.G710_splice			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	686					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		GCCCACCAGGGGGAAGCACTG	0.662000											OREG0013082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	64					0	0	0.00024832	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	84					0	0	0.000602214	0	0
ZNF146	7705	broad.mit.edu	37	19	36727855	36727855	+	Silent	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr19:36727855C>A	ENST00000456324.1	+	3	1962	c.513C>A	c.(511-513)ctC>ctA	p.L171L	ZNF565_ENST00000355114.5_Intron|ZNF146_ENST00000443387.2_Silent_p.L171L	NM_001099638.1|NM_001099639.1	NP_001093108.1|NP_001093109.1	Q15072	OZF_HUMAN	zinc finger protein 146	171					regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					AGAAGTACCTCATAAAACATC	0.408000													7	149					0.000442599	0.00584094	0.000442599	1	0
MICALL2	79778	broad.mit.edu	37	7	1489876	1489876	+	Splice_Site	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:1489876C>G	ENST00000297508.7	-	2	367	c.192_splice	c.e2+1	p.L64_splice	MICALL2_ENST00000405088.4_Intron	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	64	CH.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GGCCACTCACCAGTTTATTGT	0.562000													4	118					0	0	0.00024832	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119551	38119551	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:38119551C>G	ENST00000406386.3	+	7	1243	c.988C>G	c.(988-990)Ccc>Gcc	p.P330A	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	330					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGAGGACACCCCCAGGGCCTC	0.587000													5	120					0	0	8.12818e-05	0	0
DOPEY2	9980	broad.mit.edu	37	21	37617407	37617407	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr21:37617407C>G	ENST00000399151.3	+	19	3214	c.3129C>G	c.(3127-3129)ccC>ccG	p.P1043P		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1043					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCGCAGTGCCCGAGCCTCAGG	0.522000													4	73					0	0	3.59834e-05	0	0
SPG7	6687	broad.mit.edu	37	16	89597204	89597204	+	Silent	SNP	G	G	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:89597204G>A	ENST00000268704.2	+	7	990	c.975G>A	c.(973-975)gtG>gtA	p.V325V	SPG7_ENST00000341316.2_Silent_p.V325V	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	325					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GCGAGTTTGTGGATTATCTGA	0.582000													5	85					0	0	3.59834e-05	0	0
DUS2	54920	broad.mit.edu	37	16	68087553	68087553	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:68087553C>A	ENST00000565263.1	+	5	753	c.259C>A	c.(259-261)Cag>Aag	p.Q87K	DUS2L_ENST00000432752.1_Missense_Mutation_p.Q87K|DUS2L_ENST00000358896.6_Missense_Mutation_p.Q87K	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN		87					tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		GGTGGTCTTCCAGATGGTGAG	0.557000													6	60					1.06961e-07	2.02547e-06	0.000157383	1	0
GANC	2595	broad.mit.edu	37	15	42643620	42643620	+	Silent	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:42643620C>G	ENST00000318010.8	+	23	2865	c.2625C>G	c.(2623-2625)acC>acG	p.T875T	CAPN3_ENST00000356316.3_5'UTR|RP11-164J13.1_ENST00000495723.1_RNA	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	875					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		CTGTGACTACCCACTCATCTG	0.443000													4	68					0	0	3.59834e-05	0	0
CUBN	8029	broad.mit.edu	37	10	16916380	16916380	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:16916380C>G	ENST00000377833.4	-	58	9294	c.9229G>C	c.(9229-9231)Gag>Cag	p.E3077Q		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3077	CUB 23.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TACTTGAGCTCGATCACCTTG	0.408000													4	104					0	0	0.00024832	0	0
BCL6	604	broad.mit.edu	37	3	187447753	187447753	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:187447753C>G	ENST00000406870.2	-	5	806	c.440G>C	c.(439-441)cGg>cCg	p.R147P	BCL6_ENST00000450123.2_Missense_Mutation_p.R147P|RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.R147P	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	147					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CATCAGCATCCGGCTGTTGAG	0.542000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								4	85					0	0	8.12818e-05	0	0
LOC100287934	100287934	broad.mit.edu	37	1	745371	745371	+	RNA	DEL	A	A	-	rs146246821		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:745371delA	ENST00000447500.1	-	0	95																											TTTATTTCATAAGATAGCATT	0.299													9	26	---	---	---	---					
MST1L	11223	broad.mit.edu	37	1	17084730	17084730	+	RNA	DEL	G	G	-			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:17084730delG	ENST00000455405.2	-	0	286																		p.R494fs*37(1)									AAGCACTGCCGGGCAGTCAGT	0.582													7	35	---	---	---	---					
FAF1	11124	broad.mit.edu	37	1	50907144	50907145	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:50907144_50907145delGA	ENST00000396153.2	-	19	2371_2372	c.1920_1921delTC	c.(1918-1923)ccaafs	p.PQ640fs	FAF1_ENST00000545823.1_Frame_Shift_Del_p.PQ398fs|FAF1_ENST00000371778.4_Frame_Shift_Del_p.PQ640fs	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	640	UBX.				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity			breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		AGGGTTTCTTGAGGGAACAACT	0.436													2	4	---	---	---	---					
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137803	121137805	+	RNA	DEL	CCA	CCA	-	rs60375635	by1000genomes	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:121137803_121137805delCCA	ENST00000437515.1	-	0	329																											ACCGCCGCCGCCACGGCTTTTTG	0.645													11	25	---	---	---	---					
FLG	2312	broad.mit.edu	37	1	152276467	152276468	+	In_Frame_Ins	INS	-	-	GGA			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr1:152276467_152276468insGGA	ENST00000368799.1	-	3	10929_10930	c.10894_10895insTCC	c.(10894-10896)gtc>TCCgtc	p.3631_3632insS	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3631	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTGCTGACTGCTGGTGGTGG	0.554									Ichthyosis				10	419	---	---	---	---					
ITPRIPL1	150771	broad.mit.edu	37	2	96992793	96992795	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr2:96992793_96992795delGAG	ENST00000361124.4	+	1	859_861	c.448_450delGAG	c.(448-450)del	p.E155del	ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	147						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCCAGCAGTGAGGAGGAGGAGG	0.532													7	105	---	---	---	---					
LINC00969	440993	broad.mit.edu	37	3	195400918	195400919	+	RNA	INS	-	-	T	rs55992531	by1000genomes	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr3:195400918_195400919insT	ENST00000445430.1	+	0	1454																											AGTCttttttctttttttttga	0.525													8	12	---	---	---	---					
LNX1	84708	broad.mit.edu	37	4	54344769	54344769	+	Frame_Shift_Del	DEL	G	G	-	rs144424207	by1000genomes	TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr4:54344769delG	ENST00000306888.2	-	7	1589	c.1338delC	c.(1336-1338)ccfs	p.P446fs	FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000263925.7_Frame_Shift_Del_p.P542fs	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	542	PDZ 2.					cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGACTCCTCCGGGCTCAACAC	0.448													8	151	---	---	---	---					
PAPD7	11044	broad.mit.edu	37	5	6755013	6755014	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:6755013_6755014delAC	ENST00000230859.6	+	13	1713_1714	c.1584_1585delAC	c.(1582-1587)aaacfs	p.KH528fs		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	528					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAGGAAAAAACACACACACAC	0.653													7	56	---	---	---	---					
UBLCP1	134510	broad.mit.edu	37	5	158697396	158697398	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:158697396_158697398delATG	ENST00000296786.6	+	4	601_603	c.275_277delATG	c.(274-279)aat>a	p.ND92del		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	92						nucleus	phosphoprotein phosphatase activity			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCCCTGACAATGATGATGTTGT	0.320													8	258	---	---	---	---					
CTC-338M12.9	0	broad.mit.edu	37	5	180708697	180708698	+	RNA	INS	-	-	A	rs1815381		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr5:180708697_180708698insA	ENST00000412295.2	+	0	238																											ggggcggtaggcgggggctgga	0.718													7	13	---	---	---	---					
KIF13A	63971	broad.mit.edu	37	6	17804670	17804671	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr6:17804670_17804671insA	ENST00000378814.5	-	20	2374_2375	c.2375_2376insT	c.(2374-2376)ggcfs	p.G792fs	KIF13A_ENST00000378816.5_Frame_Shift_Ins_p.G792fs|KIF13A_ENST00000259711.6_Frame_Shift_Ins_p.G792fs|KIF13A_ENST00000378826.2_Frame_Shift_Ins_p.G792fs|KIF13A_ENST00000378843.2_Frame_Shift_Ins_p.G792fs	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	792					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			ATACATTCGCCACCCCGATGAG	0.515													4	7	---	---	---	---					
TPK1	27010	broad.mit.edu	37	7	144320288	144320288	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr7:144320288delG	ENST00000360057.3	-	6	427	c.325delC	c.(325-327)aafs	p.Q109fs	TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000538212.2_Frame_Shift_Del_p.Q104fs|TPK1_ENST00000378099.3_Frame_Shift_Del_p.Q109fs|TPK1_ENST00000549981.1_5'UTR	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	109					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity	p.Q109K(1)		large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ATCTTCTTTTGGAGCATTTTA	0.318													7	387	---	---	---	---					
COPS5	10987	broad.mit.edu	37	8	67958081	67958082	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr8:67958081_67958082insT	ENST00000357849.4	-	7	1205_1206	c.885_886insA	c.(883-888)aacagafs	p.NR295fs	PPP1R42_ENST00000517834.1_Intron|COPS5_ENST00000517736.1_3'UTR	NM_006837.2	NP_006828.2	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	295					cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TTGTCTTCTGATTTTCGGTCAT	0.411													12	159	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21971145	21971148	+	Frame_Shift_Del	DEL	GTTG	GTTG	-			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr9:21971145_21971148delGTTG	ENST00000579755.1	-	2	545_548	c.253_256delCAAC	c.(253-258)tgfs	p.QL85fs	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.PN19fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.PN19fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.PN70fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.QL126fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.PN70fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.PN70fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.PN70fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.PN19fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.QL85fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.PN19fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.PN19fs			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	61			A -> T.		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.N71K(3)|p.N71D(2)|p.C72fs*74(2)|p.N71fs*50(1)|p.E61_L94del(1)|p.0(1)|p.L127fs*>47(1)|p.N71fs*1(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.Q126R(1)|p.A68fs*3(1)|p.L63fs*75(1)|p.N71N(1)|p.N71I(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GGTCGGCGCAGTTGGGCTCCGCGC	0.721		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			7	83	---	---	---	---					
RP11-170M17.1	0	broad.mit.edu	37	10	65662136	65662136	+	RNA	DEL	T	T	-			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:65662136delT	ENST00000444770.1	+	0	494																											GGGCTTGCCATTTTTTTTTGA	0.368													3	6	---	---	---	---					
MBL1P	8512	broad.mit.edu	37	10	81680656	81680656	+	RNA	DEL	A	A	-			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:81680656delA	ENST00000480805.1	+	0	723					NR_002724.2																						GCTTTTGGGGAAAAAAAAAAG	0.542													3	5	---	---	---	---					
KIF11	3832	broad.mit.edu	37	10	94397154	94397154	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr10:94397154delA	ENST00000260731.3	+	16	2102	c.2012delA	c.(2011-2013)cafs	p.Q671fs		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	671					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATAGAAGATCAAAAAAAGGAA	0.323													7	528	---	---	---	---					
PSMA1	5682	broad.mit.edu	37	11	14529252	14529254	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:14529252_14529254delCAT	ENST00000530457.1	-	9	1138_1140	c.608_610delATG	c.(607-612)gtg>g	p.DV203del	PSMA1_ENST00000555531.1_3'UTR|PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000418988.2_In_Frame_Del_p.DV234del|PSMA1_ENST00000524606.1_5'UTR|PSMA1_ENST00000396394.2_In_Frame_Del_p.DV228del|PSMA1_ENST00000396393.1_In_Frame_Del_p.DV228del			P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	228					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						AATGGAGACACATCATCATCATC	0.360													9	275	---	---	---	---					
EHF	26298	broad.mit.edu	37	11	34668169	34668169	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr11:34668169delC	ENST00000257831.3	+	3	402	c.281delC	c.(280-282)acfs	p.T94fs	EHF_ENST00000530286.1_Frame_Shift_Del_p.T94fs|EHF_ENST00000533754.1_Frame_Shift_Del_p.T94fs|EHF_ENST00000450654.2_Frame_Shift_Del_p.T94fs|EHF_ENST00000527935.1_Frame_Shift_Del_p.T94fs|EHF_ENST00000531728.1_Frame_Shift_Del_p.T94fs|EHF_ENST00000531794.1_Frame_Shift_Del_p.T116fs	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	ets homologous factor	94	PNT.				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			CAGGAGTTCACCCGGGCGGCA	0.572													8	186	---	---	---	---					
RPAP3	79657	broad.mit.edu	37	12	48084302	48084302	+	Splice_Site	DEL	T	T	-			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:48084302delT	ENST00000005386.3	-	6	781	c.667_splice	c.e6+1	p.K222_splice	RPAP3_ENST00000380650.4_Splice_Site_p.K222_splice|RPAP3_ENST00000432584.3_Splice_Site_p.K63_splice	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	222							binding			endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					AGAAAATACCTTTTTTGGCCT	0.363													7	327	---	---	---	---					
ASCL1	429	broad.mit.edu	37	12	103352171	103352172	+	In_Frame_Ins	INS	-	-	GCA	rs71438488		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:103352171_103352172insGCA	ENST00000266744.3	+	1	708_709	c.149_150insGCA	c.(148-150)gca>gGCAca	p.50_50A>GT		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	50					cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			NS(3)|large_intestine(1)|lung(1)	5						gcgcagagcgcgcagcagcagc	0.757													5	3	---	---	---	---					
CAMKK2	10645	broad.mit.edu	37	12	121678327	121678328	+	In_Frame_Ins	INS	-	-	TTT	rs63023660		TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr12:121678327_121678328insTTT	ENST00000392474.2	-	16	1618_1619	c.1614_1615insAAA	c.(1612-1617)aagact>aaAAAgact	p.538_539insK	CAMKK2_ENST00000337174.3_3'UTR|CAMKK2_ENST00000545538.1_In_Frame_Ins_p.325_326insK|CAMKK2_ENST00000412367.2_Intron|CAMKK2_ENST00000324774.5_3'UTR|CAMKK2_ENST00000538733.1_3'UTR|CAMKK2_ENST00000404169.3_Intron|CAMKK2_ENST00000347034.2_3'UTR	NM_001270486.1	NP_001257415.1	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	538					calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GAGTCAAGTCCTTTTTTTTTTT	0.495													7	19	---	---	---	---					
SYNE3	161176	broad.mit.edu	37	14	95916406	95916407	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr14:95916406_95916407delCG	ENST00000334258.5	-	7	1324_1325	c.1310_1311delCG	c.(1309-1311)gfs	p.A438fs	SYNE3_ENST00000554873.1_Frame_Shift_Del_p.A195fs|SYNE3_ENST00000557275.1_Frame_Shift_Del_p.A438fs|SYNE3_ENST00000553340.1_Frame_Shift_Del_p.A438fs	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						GCTCCACCGCCGCGGCATTGCG	0.649													4	8	---	---	---	---					
ITGA11	22801	broad.mit.edu	37	15	68657130	68657130	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr15:68657130delA	ENST00000423218.2	-	4	367	c.272delT	c.(271-273)gcfs	p.V91fs	ITGA11_ENST00000315757.7_Frame_Shift_Del_p.V91fs|ITGA11_ENST00000562826.1_5'UTR			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	91					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GGACAGGGTGACCCTTCCTGG	0.647													7	45	---	---	---	---					
IL9RP3	729486	broad.mit.edu	37	16	81973	81974	+	RNA	INS	-	-	GTCC			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:81973_81974insGTCC	ENST00000568710.1	-	0	349																											ATCAGCAGGAGGCCCACCTCGT	0.614													7	26	---	---	---	---					
LOC100134368	100134368	broad.mit.edu	37	16	437259	437260	+	RNA	DEL	AT	AT	-			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:437259_437260delAT	ENST00000412293.1	+	0	521					NR_024453.2																						CTAATTCTAAATATATATATAT	0.421													13	84	---	---	---	---					
RPGRIP1L	23322	broad.mit.edu	37	16	53691525	53691525	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr16:53691525delT	ENST00000262135.4	-	13	1514	c.1421delA	c.(1420-1422)atfs	p.N474fs	RPGRIP1L_ENST00000379925.3_Frame_Shift_Del_p.N474fs|RPGRIP1L_ENST00000564374.1_Frame_Shift_Del_p.N474fs|RPGRIP1L_ENST00000563746.1_Frame_Shift_Del_p.N474fs	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	474					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				AAGGTCTCCATTTTTTTGTTC	0.294													7	524	---	---	---	---					
CSRP2BP	57325	broad.mit.edu	37	20	18142850	18142850	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr20:18142850delC	ENST00000278816.2	+	6	1719	c.1069delC	c.(1069-1071)cafs	p.P357fs	CSRP2BP_ENST00000435364.2_Frame_Shift_Del_p.P357fs|CSRP2BP_ENST00000377681.2_Frame_Shift_Del_p.P356fs|CSRP2BP_ENST00000489634.2_Frame_Shift_Del_p.P229fs			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	357					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						AGATCTGATTCCAGATGTGAT	0.458													7	375	---	---	---	---					
TRIOBP	11078	broad.mit.edu	37	22	38119882	38119884	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-ER-A19P-06A-11D-A196-08	TCGA-ER-A19P-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb85faa4-af09-4a2e-8ba8-7c7763e59018	33753b8c-18af-4cb8-8932-e2abd794d1bf	g.chr22:38119882_38119884delCCT	ENST00000406386.3	+	7	1574_1576	c.1319_1321delCCT	c.(1318-1323)gcc>g	p.AS440del	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	440					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAG	0.601													7	120	---	---	---	---