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
PITX1	5307	broad.mit.edu	37	5	134364901	134364901	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr5:134364901G>T	ENST00000265340.7	-	3	929	c.513C>A	c.(511-513)taC>taA	p.Y171*	PITX1_ENST00000506438.1_Nonsense_Mutation_p.Y171*	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	171	Interacts with PIT-1 (By similarity).					nucleolus	sequence-specific DNA binding	p.Y171*(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		ACACGTCCTCGTAGGGCTGCA	0.637000													16	35					4.14922e-12	5.28334e-12	0.500413	1	0
CDH15	1013	broad.mit.edu	37	16	89245975	89245975	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr16:89245975T>C	ENST00000289746.2	+	2	259	c.194T>C	c.(193-195)cTg>cCg	p.L65P	CDH15_ENST00000521087.1_3'UTR	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	65	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	p.L65P(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CCCTACCCCCTGGTTCAGGTG	0.682000													10	25					0	0	0.435327	0	0
GTDC1	79712	broad.mit.edu	37	2	144899585	144899585	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr2:144899585T>A	ENST00000409214.1	-	6	663	c.385A>T	c.(385-387)Aat>Tat	p.N129Y	GTDC1_ENST00000409298.1_Missense_Mutation_p.N129Y|GTDC1_ENST00000392867.3_Missense_Mutation_p.N129Y|GTDC1_ENST00000463875.2_5'UTR|GTDC1_ENST00000344850.4_Missense_Mutation_p.N129Y|GTDC1_ENST00000241391.5_Missense_Mutation_p.N129Y|GTDC1_ENST00000392869.1_Missense_Mutation_p.N129Y|GTDC1_ENST00000542155.1_Missense_Mutation_p.N129Y	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	129					biosynthetic process		transferase activity, transferring glycosyl groups	p.N129Y(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		GATTCCATATTAAAAACTGAG	0.393000													12	30					0	0	0.411799	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55331433	55331433	+	Silent	SNP	A	A	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr19:55331433A>T	ENST00000391728.4	+	4	654	c.621A>T	c.(619-621)tcA>tcT	p.S207S	KIR3DL1_ENST00000358178.4_Silent_p.S112S|KIR3DL1_ENST00000326542.7_Silent_p.S207S|KIR3DL1_ENST00000402254.2_Silent_p.S207S|KIR3DL1_ENST00000541392.1_Silent_p.S207S|KIR3DL1_ENST00000538269.1_Silent_p.S207S	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1									p.S207S(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		ATCAGTTGTCAGCTCCCAGTG	0.522000													104	43					0	0	0.870114	0	0
CC2D1B	200014	broad.mit.edu	37	1	52828349	52828349	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr1:52828349C>G	ENST00000371586.2	-	3	277	c.139G>C	c.(139-141)Gac>Cac	p.D47H	CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.D47H	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	47										breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						GCCTCCAGGTCCTCATCATCT	0.577000													3	107					0	0	0.115264	0	0
ALPK1	80216	broad.mit.edu	37	4	113348782	113348782	+	Silent	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr4:113348782C>T	ENST00000458497.1	+	9	1035	c.756C>T	c.(754-756)aaC>aaT	p.N252N	ALPK1_ENST00000504176.2_Silent_p.N174N|ALPK1_ENST00000177648.9_Silent_p.N252N	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	252							ATP binding|protein serine/threonine kinase activity	p.N252N(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TGAGCAAGAACGATTATGAAA	0.388000													7	20					0	0	0.278610	0	0
LGR4	55366	broad.mit.edu	37	11	27390166	27390166	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr11:27390166G>C	ENST00000379214.4	-	18	2547	c.2104C>G	c.(2104-2106)Cca>Gca	p.P702A	LGR4_ENST00000389858.4_Missense_Mutation_p.P678A	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	702						integral to membrane|plasma membrane	protein-hormone receptor activity	p.P702A(1)		NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CCTAATGATGGCGTTTCACCT	0.408000													22	44					0	0	0.624587	0	0
KNTC1	9735	broad.mit.edu	37	12	123067518	123067518	+	Silent	SNP	A	A	G			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr12:123067518A>G	ENST00000333479.7	+	34	3426	c.3249A>G	c.(3247-3249)gcA>gcG	p.A1083A	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1083					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	p.A1083A(1)		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)		TCAAAACAGCACTGAAAAAAT	0.483000													9	6					0	0	0.361761	0	0
TTLL2	83887	broad.mit.edu	37	6	167754296	167754296	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr6:167754296A>G	ENST00000239587.5	+	3	996	c.908A>G	c.(907-909)aAt>aGt	p.N303S		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	303	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity	p.N303S(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AGCAGCATCAATAAATCCGGG	0.418000													44	144					0	0	0.870114	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963423	88963423	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr7:88963423G>T	ENST00000333190.4	+	4	1736	c.1127G>T	c.(1126-1128)aGt>aTt	p.S376I		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	376						intracellular	zinc ion binding	p.S376I(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TACAACCATAGTGATGCCAGG	0.388000										HNSCC(36;0.09)			13	15					5.50884e-06	6.22596e-06	0.411799	1	0
PSG7	5676	broad.mit.edu	37	19	43430783	43430783	+	RNA	SNP	C	C	G			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr19:43430783C>G	ENST00000406070.2	-	0	891				PSG7_ENST00000446844.3_RNA	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)				AGTTCTCACTCTTAGGTTCAC	0.483000													63	168					0	0	0.870114	0	0
ENTPD7	57089	broad.mit.edu	37	10	101458472	101458472	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr10:101458472G>C	ENST00000370489.4	+	10	1370	c.1192G>C	c.(1192-1194)Gcc>Ccc	p.A398P		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	398						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity	p.A398P(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		CACCAGCCAGGCCTCACTCAA	0.512000													6	34					0	0	0.307466	0	0
NRXN3	9369	broad.mit.edu	37	14	79433607	79433607	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr14:79433607G>A	ENST00000554719.1	+	10	2206	c.1715G>A	c.(1714-1716)aGt>aAt	p.S572N	NRXN3_ENST00000335750.5_Missense_Mutation_p.S572N	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	164					angiogenesis|cell adhesion	integral to membrane		p.S572N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AAAGGCAACAGTGACCGCCCC	0.438000													13	13					0	0	0.435327	0	0
ZFP36L1	677	broad.mit.edu	37	14	69256784	69256784	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr14:69256784G>C	ENST00000439696.2	-	2	784	c.483C>G	c.(481-483)ttC>ttG	p.F161L	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.F161L	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	161					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F161L(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CGATGGTGTGGAAGGTGCGGC	0.667000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	28					0	0	0.654019	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20489448	20489448	+	RNA	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr15:20489448G>A	ENST00000555186.1	+	0	436					NR_038836.1																						ATCACCAGTGGAAAACACAAC	0.413000													6	97					0	0	0.278610	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118231353	118231353	+	Silent	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr10:118231353C>A	ENST00000369230.3	+	10	1280	c.1134C>A	c.(1132-1134)ggC>ggA	p.G378G		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	378	PLAT.				lipid catabolic process	extracellular region	triglyceride lipase activity	p.G378G(1)		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)		TTCGTGTAGGCGGGGCAGTTA	0.473000													24	53					3.7963e-18	5.14251e-18	0.654019	1	0
TRIM51HP	440041	broad.mit.edu	37	11	55063064	55063064	+	RNA	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr11:55063064C>A	ENST00000526016.1	-	0	573					NR_038174.2																						TCCTCGCCCTCCTTTCACAGC	0.403000													7	19					0.248553	0.256614	0.248553	1	0
PYROXD1	79912	broad.mit.edu	37	12	21590695	21590695	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr12:21590695G>A	ENST00000240651.9	+	1	85	c.31G>A	c.(31-33)Ggg>Agg	p.G11R	PYROXD1_ENST00000545178.1_Missense_Mutation_p.G11R	NM_024854.3	NP_079130.2	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	11							oxidoreductase activity	p.G11R(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						CCCGACGGCAGGGAAGTTCGT	0.672000													3	19					0	0	0.115264	0	0
PIWIL3	440822	broad.mit.edu	37	22	25158424	25158424	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr22:25158424G>A	ENST00000332271.5	-	2	459	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C	PIWIL3_ENST00000533313.1_5'UTR|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	15					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	p.R15C(2)		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						CTCTCCCTGCGGCGGGCTCTG	0.547000													28	42					0	0	0.788014	0	0
KRT7	3855	broad.mit.edu	37	12	52627141	52627141	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr12:52627141G>A	ENST00000331817.5	+	1	244	c.61G>A	c.(61-63)Ggc>Agc	p.G21S		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	21	Head.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity	p.G21S(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		CTCGGGCCGCGGCGCCCAGGT	0.746000													8	9					0	0	0.411799	0	0
ADAM23	8745	broad.mit.edu	37	2	207406809	207406809	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr2:207406809A>G	ENST00000264377.3	+	5	935	c.607A>G	c.(607-609)Aga>Gga	p.R203G	ADAM23_ENST00000374416.1_Missense_Mutation_p.R203G|ADAM23_ENST00000374415.3_Missense_Mutation_p.R203G	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	203					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.R203G(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TGGAAGCATCAGAGGCGTCAA	0.433000													15	80					0	0	0.479597	0	0
UBA1	7317	broad.mit.edu	37	X	47062565	47062565	+	Silent	SNP	G	G	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chrX:47062565G>T	ENST00000335972.6	+	13	1554	c.1371G>T	c.(1369-1371)gtG>gtT	p.V457V	UBA1_ENST00000377351.4_Silent_p.V457V|UBA1_ENST00000490869.1_3'UTR	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	457	2 approximate repeats.				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity	p.V457V(1)		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						AAGTGGCTGTGTTTGGCTCAG	0.557000													24	16					5.45024e-15	7.27969e-15	0.654019	1	0
PCDH11X	27328	broad.mit.edu	37	X	91133833	91133833	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chrX:91133833T>C	ENST00000373094.1	+	2	3439	c.2594T>C	c.(2593-2595)aTa>aCa	p.I865T	PCDH11X_ENST00000504220.1_Missense_Mutation_p.I865T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.I865T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.I865T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.I865T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.I865T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.I865T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.I865T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.I865T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	865					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.I865T(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AGGCAGATGATAATGATgaag	0.413000													20	21					0	0	0.557998	0	0
ZNF80	7634	broad.mit.edu	37	3	113955906	113955906	+	Missense_Mutation	SNP	C	C	T	rs150485238	byFrequency	TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr3:113955906C>T	ENST00000482457.2	-	1	519	c.16G>A	c.(16-18)Gat>Aat	p.D6N		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	6						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D6N(1)		NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				CCCAACCCATCGCGTTTAGGG	0.537000													59	23					0	0	0.870114	0	0
GFPT2	9945	broad.mit.edu	37	5	179734220	179734220	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr5:179734220T>A	ENST00000253778.8	-	16	1799	c.1630A>T	c.(1630-1632)Atg>Ttg	p.M544L		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	544	SIS 2.				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.M544L(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-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)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CCCCGCCCCATCACCAGCAGC	0.642000													4	4					0	0	0.150653	0	0
NPAP1	23742	broad.mit.edu	37	15	24922493	24922493	+	Silent	SNP	C	C	G			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr15:24922493C>G	ENST00000329468.2	+	1	1953	c.1479C>G	c.(1477-1479)ctC>ctG	p.L493L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.L493L(1)									CAGCGCCTCTCACTTCTGACC	0.532000													8	213					0	0	0.307466	0	0
UROC1	131669	broad.mit.edu	37	3	126219701	126219701	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr3:126219701C>T	ENST00000290868.2	-	11	1035	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	UROC1_ENST00000383579.3_Missense_Mutation_p.E388K	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	328					histidine catabolic process	cytosol	urocanate hydratase activity	p.E328K(1)|p.E388K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GTGTCCAATTCGTGGACCAGG	0.637000													32	14					0	0	0.760397	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216063	20216063	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr14:20216063G>A	ENST00000331723.1	+	1	477	c.477G>A	c.(475-477)atG>atA	p.M159I		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M159I(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACTCTATCATGCAGGTCATAC	0.507000													7	49					0	0	0.278610	0	0
NBPF20	100288142	broad.mit.edu	37	1	148252093	148252093	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr1:148252093C>A	ENST00000369202.1	-	111	13845	c.13648G>T	c.(13648-13650)Gaa>Taa	p.E4550*						neuroblastoma breakpoint family, member 20									p.E4550*(1)		breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						TCAGGCTCTTCCACTTCCATC	0.458000													28	163					3.6622e-26	5.0687e-26	0.788014	1	0
CDH23	64072	broad.mit.edu	37	10	73569657	73569657	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr10:73569657C>T	ENST00000224721.6	+	60	8823	c.8818C>T	c.(8818-8820)Cga>Tga	p.R2940*	CDH23_ENST00000398788.3_Nonsense_Mutation_p.R695*|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2935	Cadherin 27.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.R2940*(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CATTGTGGCCCGAGACCTGGC	0.607000													18	78					0	0	0.592651	0	0
RPL3L	6123	broad.mit.edu	37	16	1994859	1994859	+	Silent	SNP	C	C	T	rs140950130		TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr16:1994859C>T	ENST00000268661.7	-	10	1297	c.1203G>A	c.(1201-1203)ccG>ccA	p.P401P		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	401					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	p.P401P(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						CCGAGGTCTCCGGCGTTTCCT	0.607000													20	78					0	0	0.654019	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			49	37					0	0	0.870114	0	0
DPP10	57628	broad.mit.edu	37	2	115200395	115200395	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr2:115200395C>T	ENST00000410059.1	+	1	520	c.40C>T	c.(40-42)Caa>Taa	p.Q14*		NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	14	Mediates effects on KCND2.				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	p.Q14*(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CATCAAGTGTCAACCCTCAAA	0.468000													8	21					0	0	0.307466	0	0
NRG3	10718	broad.mit.edu	37	10	84738738	84738738	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr10:84738738G>C	ENST00000372142.2	+	9	1056	c.782G>C	c.(781-783)aGa>aCa	p.R261T	NRG3_ENST00000537893.1_Missense_Mutation_p.R132T|NRG3_ENST00000404576.2_Missense_Mutation_p.R286T|NRG3_ENST00000372141.2_Missense_Mutation_p.R482T|NRG3_ENST00000404547.1_Missense_Mutation_p.R482T|NRG3_ENST00000556918.1_Missense_Mutation_p.R312T|NRG3_ENST00000545131.1_Missense_Mutation_p.R132T	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	482	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.R261T(1)|p.R482T(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CCAGGGCAAAGAAGTGGCATG	0.498000													4	21					0	0	0.184627	0	0
FADD	8772	broad.mit.edu	37	11	70049737	70049737	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr11:70049737G>T	ENST00000301838.4	+	1	469	c.172G>T	c.(172-174)Ggg>Tgg	p.G58W		NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	Fas (TNFRSF6)-associated via death domain	58	DED.				activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction	cytosol	death receptor binding|identical protein binding	p.G58W(1)		endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CCTGGAGCCCGGGCACACCGA	0.731000													13	30					1.02788e-11	1.30017e-11	0.520397	1	0
OR4L1	122742	broad.mit.edu	37	14	20529107	20529107	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr14:20529107C>T	ENST00000315683.1	+	1	904	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R302W(2)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AAGAAAATTACGGTTCCAATA	0.303000													11	30					0	0	0.411799	0	0
CDHR3	222256	broad.mit.edu	37	7	105636781	105636781	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr7:105636781G>A	ENST00000542731.1	+	6	802	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	CDHR3_ENST00000541203.1_Intron|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000343407.5_5'UTR|CDHR3_ENST00000317716.9_Missense_Mutation_p.E232K|CDHR3_ENST00000478080.1_Missense_Mutation_p.E144K			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	232	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E232K(2)		breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CCTCAACGACGAAGTCCCTCG	0.582000													8	5					0	0	0.335167	0	0
CHD8	57680	broad.mit.edu	37	14	21873432	21873432	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr14:21873432C>A	ENST00000399982.2	-	15	3307	c.3243G>T	c.(3241-3243)atG>atT	p.M1081I	CHD8_ENST00000557364.1_Missense_Mutation_p.M1081I|CHD8_ENST00000430710.3_Missense_Mutation_p.M802I|CHD8_ENST00000555962.1_Intron	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1081					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	p.M1081I(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GTAGATTAGGCATGTTGGTAT	0.413000													7	8					1.12685e-05	1.26605e-05	0.307466	1	0
CHCHD3	54927	broad.mit.edu	37	7	132481310	132481310	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr7:132481310C>A	ENST00000262570.5	-	7	697	c.553G>T	c.(553-555)Gat>Tat	p.D185Y	CHCHD3_ENST00000476546.1_5'UTR|CHCHD3_ENST00000448878.1_Missense_Mutation_p.D190Y	NM_017812.2	NP_060282.1	Q9NX63	CHCH3_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 3	185	CHCH.				inner mitochondrial membrane organization|mitochondrial fusion	mitochondrial inner membrane	protein complex scaffold	p.D185Y(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						GCCTGCAGATCAGCACAGACT	0.468000													6	37					0.0215528	0.0229976	0.217242	1	0
INPP1	3628	broad.mit.edu	37	2	191235886	191235886	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr2:191235886G>T	ENST00000392329.2	+	7	1658	c.958G>T	c.(958-960)Gct>Tct	p.A320S	INPP1_ENST00000541441.1_Missense_Mutation_p.A320S|INPP1_ENST00000322522.4_Missense_Mutation_p.A320S	NM_001128928.1	NP_001122400.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	320					signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding	p.A320S(1)		cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		Lithium(DB01356)	CTCTTGTGCTGCTCATGCCAT	0.463000													22	35					6.44725e-10	7.94468e-10	0.624587	1	0
MUC16	94025	broad.mit.edu	37	19	9048804	9048804	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr19:9048804C>A	ENST00000397910.4	-	5	33030	c.32827G>T	c.(32827-32829)Gca>Tca	p.A10943S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10945	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A10943S(1)|p.A6576S(1)		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						CTAGTCACTGCCCTAGAACTA	0.512000													27	70					1.04121e-07	1.21263e-07	0.693898	1	0
PKHD1	5314	broad.mit.edu	37	6	51732854	51732854	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr6:51732854C>G	ENST00000371117.3	-	48	7815	c.7540G>C	c.(7540-7542)Gtg>Ctg	p.V2514L	PKHD1_ENST00000340994.4_Missense_Mutation_p.V2514L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2514					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.V2514L(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGAAATGCCACTAAGTTTGAA	0.388000													9	23					0	0	0.387290	0	0
TTN	7273	broad.mit.edu	37	2	179449635	179449635	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr2:179449635G>A	ENST00000589042.1	-	310	64957	c.64733C>T	c.(64732-64734)tCc>tTc	p.S21578F	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S19010F|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S19937F|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S12705F|TTN_ENST00000460472.2_Missense_Mutation_p.S12513F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S12638F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19937	Fibronectin type-III 56.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S12513F(1)|p.S19010F(1)|p.S19008F(1)|p.S12638F(1)|p.S12705F(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)			CCATGACAGGGAGCAAGCATC	0.498000													20	69					0	0	0.575678	0	0
NPAS4	266743	broad.mit.edu	37	11	66192248	66192248	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr11:66192248G>T	ENST00000311034.2	+	7	2063	c.1887G>T	c.(1885-1887)caG>caT	p.Q629H		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	629					transcription, DNA-dependent		DNA binding|signal transducer activity	p.Q629H(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						AAAAGGAGCAGAATGAGATAG	0.572000													54	67					2.76378e-25	3.79772e-25	0.870114	1	0
MCHR2	84539	broad.mit.edu	37	6	100395747	100395747	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr6:100395747G>A	ENST00000281806.2	-	3	597	c.283C>T	c.(283-285)Cga>Tga	p.R95*	MCHR2_ENST00000445970.1_Nonsense_Mutation_p.R95*|MCHR2_ENST00000369212.1_Nonsense_Mutation_p.R95*	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	95						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R95*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TCTCCCCCTCGGGCCCATTGG	0.488000													40	67					0	0	0.812448	0	0
PNPLA6	10908	broad.mit.edu	37	19	7607476	7607476	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr19:7607476G>A	ENST00000221249.6	+	14	1596	c.1165G>A	c.(1165-1167)Gac>Aac	p.D389N	PNPLA6_ENST00000600737.1_Missense_Mutation_p.D428N|PNPLA6_ENST00000545201.2_Missense_Mutation_p.D389N|PNPLA6_ENST00000414982.3_Missense_Mutation_p.D437N|PNPLA6_ENST00000450331.3_Missense_Mutation_p.D389N	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	428					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	p.D389N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CTCCGACTTCGACATGGCCTA	0.612000													13	21					0	0	0.435327	0	0
HCN1	348980	broad.mit.edu	37	5	45695955	45695955	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr5:45695955A>T	ENST00000303230.4	-	1	298	c.241T>A	c.(241-243)Ttc>Atc	p.F81I		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	81						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.F81I(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						GCGTCTTCGAAGCCCCCCGCC	0.716000													4	15					0	0	0.184627	0	0
RPTOR	57521	broad.mit.edu	37	17	78811791	78811791	+	Silent	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr17:78811791G>A	ENST00000306801.3	+	10	1568	c.1206G>A	c.(1204-1206)gcG>gcA	p.A402A	RPTOR_ENST00000544334.2_Silent_p.A402A|RPTOR_ENST00000537330.1_Silent_p.A217A|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	402					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	p.A402A(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						AAGGCACTGCGTTTCGGGTGA	0.627000													4	11					0	0	0.184627	0	0
PHF19	26147	broad.mit.edu	37	9	123632765	123632765	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr9:123632765G>A	ENST00000373896.3	-	4	572	c.320C>T	c.(319-321)tCa>tTa	p.S107L	PHF19_ENST00000312189.6_Missense_Mutation_p.S107L	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.S107L(2)		NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGCGGCCCTGATGTCTTCCC	0.612000													6	116					0	0	0.217242	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76075401	76075401	+	RNA	SNP	A	A	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr15:76075401A>C	ENST00000395215.3	+	0	1041																											CTGTGTGAGCAAAATGAGAGG	0.602000													39	80					0	0	0.819951	0	0
DPYSL4	10570	broad.mit.edu	37	10	134015457	134015457	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr10:134015457G>A	ENST00000338492.4	+	11	1282	c.1118G>A	c.(1117-1119)gGg>gAg	p.G373E	DPYSL4_ENST00000368627.1_Missense_Mutation_p.G273E|DPYSL4_ENST00000368629.1_Missense_Mutation_p.G273E	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	373					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.G373E(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CAGGCCTCTGGGAAGATGGAC	0.592000													7	43					0	0	0.278610	0	0
LRP2	4036	broad.mit.edu	37	2	170030461	170030461	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr2:170030461C>G	ENST00000263816.3	-	56	11267	c.10982G>C	c.(10981-10983)gGa>gCa	p.G3661A		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3661	LDL-receptor class A 29.				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	p.G3661A(1)		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)	CGAGTGGTCTCCACAATCATT	0.577000													21	51					0	0	0.654019	0	0
SALL1	6299	broad.mit.edu	37	16	51171060	51171060	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr16:51171060C>A	ENST00000440970.1	-	3	4078	c.3647G>T	c.(3646-3648)cGc>cTc	p.R1216L	SALL1_ENST00000251020.4_Missense_Mutation_p.R1313L|SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000541611.1_Missense_Mutation_p.R136L	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1313					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R1313L(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CTCCACGAAGCGGGTGAAGCG	0.562000													15	19					1.00905e-13	1.32916e-13	0.575678	1	0
SEMA7A	8482	broad.mit.edu	37	15	74704231	74704231	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr15:74704231C>T	ENST00000261918.4	-	11	1965	c.1417G>A	c.(1417-1419)Gag>Aag	p.E473K	SEMA7A_ENST00000543145.2_Missense_Mutation_p.E459K|SEMA7A_ENST00000542748.1_Missense_Mutation_p.E308K	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	473	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	p.E473K(1)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						CTCACCCGCTCAGCATCCAGC	0.597000													21	57					0	0	0.608945	0	0
ITSN2	50618	broad.mit.edu	37	2	24533250	24533250	+	Splice_Site	SNP	C	C	T	rs75937204		TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr2:24533250C>T	ENST00000355123.4	-	7	1000		c.e7-1		ITSN2_ENST00000406921.3_Splice_Site|ITSN2_ENST00000361999.3_Splice_Site	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2						endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	p.?(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAGGCAATGCTAAAAAAGAA	0.338000													44	159					0	0	0.847076	0	0
RUFY1	80230	broad.mit.edu	37	5	179020526	179020526	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr5:179020526G>A	ENST00000319449.4	+	11	1305	c.1293G>A	c.(1291-1293)atG>atA	p.M431I	RUFY1_ENST00000393438.2_Missense_Mutation_p.M323I|RUFY1_ENST00000437570.2_Missense_Mutation_p.M323I|RUFY1_ENST00000377001.2_3'UTR	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	431					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	p.M323I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAACCGAAATGGAAATTGCAA	0.378000										HNSCC(44;0.11)			13	15					0	0	0.411799	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55063065	55063065	+	RNA	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr11:55063065C>A	ENST00000526016.1	-	0	572					NR_038174.2																						CCTCGCCCTCCTTTCACAGCC	0.398000													7	19					0.248553	0.256614	0.248553	1	0
CTNNA2	1496	broad.mit.edu	37	2	80646672	80646672	+	Silent	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr2:80646672G>A	ENST00000466387.1	+	13	1960	c.1236G>A	c.(1234-1236)aaG>aaA	p.K412K	CTNNA2_ENST00000541047.1_Silent_p.K412K|CTNNA2_ENST00000361291.4_Silent_p.K446K|CTNNA2_ENST00000496558.1_Silent_p.K412K|CTNNA2_ENST00000343114.3_Silent_p.K91K|CTNNA2_ENST00000540488.1_Silent_p.K412K|CTNNA2_ENST00000402739.4_Silent_p.K412K			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	412					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.E413*(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GAAATGAAAAGGAAGTGAAAG	0.453000													12	50					0	0	0.411799	0	0
GPR98	84059	broad.mit.edu	37	5	89948210	89948210	+	Missense_Mutation	SNP	A	A	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr5:89948210A>C	ENST00000405460.2	+	19	3560	c.3464A>C	c.(3463-3465)cAg>cCg	p.Q1155P		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1155					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	p.Q1155P(1)		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)		GTATCTTGGCAGCTCTTTCAG	0.368000													38	66					0	0	0.834066	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160636571	160636571	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr2:160636571C>T	ENST00000504764.1	-	37	5364	c.5337G>A	c.(5335-5337)tgG>tgA	p.W1779*	CD302_ENST00000259053.4_Nonsense_Mutation_p.W138*|LY75_ENST00000554112.1_Nonsense_Mutation_p.W1779*|CD302_ENST00000480212.1_5'UTR|LY75_ENST00000553424.1_Nonsense_Mutation_p.W1723*|CD302_ENST00000429078.2_Intron|LY75-CD302_ENST00000505052.1_Nonsense_Mutation_p.W1723*	NM_001198759.1	NP_001185688.1	O60449	LY75_HUMAN		1645					endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	p.W138*(1)									TTCCTTTTTTCCATTCACCTG	0.383000													19	45					0	0	0.608945	0	0
KCNA4	3739	broad.mit.edu	37	11	30033077	30033077	+	Silent	SNP	G	G	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr11:30033077G>T	ENST00000328224.6	-	2	2382	c.1149C>A	c.(1147-1149)tcC>tcA	p.S383S		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	383						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.S383S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CAAACTCAAAGGAAAACCATA	0.423000													24	41					1.10923e-09	1.3581e-09	0.639603	1	0
LOC101927060	101927060	broad.mit.edu	37	17	45128742	45128742	+	RNA	SNP	T	T	G	rs34655963	by1000genomes	TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr17:45128742T>G	ENST00000575173.1	-	0	418																											TAATGATTTTTATTATACTTT	0.328000													4	53					0	0	0.217242	0	0
HEPH	9843	broad.mit.edu	37	X	65475972	65475972	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chrX:65475972C>A	ENST00000519389.1	+	17	3037	c.2858C>A	c.(2857-2859)cCc>cAc	p.P953H	HEPH_ENST00000336279.5_Missense_Mutation_p.P632H|HEPH_ENST00000441993.2_Missense_Mutation_p.P902H|HEPH_ENST00000374727.3_Missense_Mutation_p.P902H|HEPH_ENST00000419594.1_Missense_Mutation_p.P710H|HEPH_ENST00000343002.2_Missense_Mutation_p.P899H			Q9BQS7	HEPH_HUMAN	hephaestin	899	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.P899H(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CTGGTGGGGCCCTTGGCTATC	0.512000													14	10					4.7546e-09	5.71151e-09	0.500413	1	0
LEPR	3953	broad.mit.edu	37	1	66102281	66102281	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr1:66102281C>A	ENST00000349533.6	+	20	3266	c.3081C>A	c.(3079-3081)agC>agA	p.S1027R	LEPR_ENST00000406510.3_Missense_Mutation_p.S94R	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	1027					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	p.S1027R(1)		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)		TCTCTAATAGCTCATGGGAGA	0.393000													34	53					2.68265e-12	3.43883e-12	0.769981	1	0
SLC25A24	29957	broad.mit.edu	37	1	108700189	108700189	+	Silent	SNP	T	T	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr1:108700189T>C	ENST00000565488.1	-	5	783	c.564A>G	c.(562-564)gaA>gaG	p.E188E	SLC25A24_ENST00000370041.4_Silent_p.E169E	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	188					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	p.E188E(1)|p.E169E(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		CGGATTTTTTTTCGTCTTCCG	0.433000													31	24					0	0	0.729181	0	0
WDR43	23160	broad.mit.edu	37	2	29150465	29150465	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr2:29150465A>G	ENST00000407426.3	+	10	1260	c.1204A>G	c.(1204-1206)Aaa>Gaa	p.K402E		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	402						nucleolus		p.K445E(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					TTCTGAAGCAAAAGTTCTGGT	0.463000													9	17					0	0	0.307466	0	0
LRRC8E	80131	broad.mit.edu	37	19	7964661	7964661	+	Silent	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr19:7964661G>A	ENST00000539278.1	-	1	3766	c.606C>T	c.(604-606)agC>agT	p.S202S	LRRC8E_ENST00000306708.6_Silent_p.R418R														p.R418R(1)									CCGCGGGCCGGCTGGAGCTGG	0.617000													17	25					0	0	0.520397	0	0
MGAM	8972	broad.mit.edu	37	7	141734499	141734499	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr7:141734499G>C	ENST00000475668.2	+	16	1871	c.1817G>C	c.(1816-1818)aGa>aCa	p.R606T	MGAM_ENST00000549489.2_Missense_Mutation_p.R606T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	606	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.R606T(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCTAATAAGAGAAGCTTCATT	0.502000													21	22					0	0	0.624587	0	0
FOXR2	139628	broad.mit.edu	37	X	55650322	55650322	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chrX:55650322C>A	ENST00000339140.3	+	1	490	c.178C>A	c.(178-180)Cct>Act	p.P60T		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	60					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA 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	p.P60T(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						CCCAGAAATGCCTCAGAAGAG	0.522000													15	14					2.31682e-05	2.57275e-05	0.479597	1	0
TAF1L	138474	broad.mit.edu	37	9	32635526	32635526	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr9:32635526C>A	ENST00000242310.4	-	1	141	c.52G>T	c.(52-54)Gcc>Tcc	p.A18S	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	18					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.A18S(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GACATGATGGCGGCAGTGACG	0.552000													29	26					5.45727e-16	7.34041e-16	0.729181	1	0
NPAS4	266743	broad.mit.edu	37	11	66189682	66189682	+	Silent	SNP	A	A	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr11:66189682A>C	ENST00000311034.2	+	2	443	c.267A>C	c.(265-267)acA>acC	p.T89T		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	89	PAS 1.				transcription, DNA-dependent		DNA binding|signal transducer activity	p.T89T(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TTGTGTTCACAGCCGAGGGGA	0.597000													15	16					0	0	0.500413	0	0
ASPM	259266	broad.mit.edu	37	1	197071942	197071942	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr1:197071942G>T	ENST00000367409.4	-	18	6695	c.6439C>A	c.(6439-6441)Caa>Aaa	p.Q2147K	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2147	IQ 17.				mitosis	cytoplasm|nucleus	calmodulin binding	p.Q2147K(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CATCTTACTTGAATAACAATA	0.358000													42	66					9.85913e-13	1.27236e-12	0.847076	1	0
GAL3ST2	64090	broad.mit.edu	37	2	242742902	242742902	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr2:242742902C>T	ENST00000192314.6	+	4	649	c.518C>T	c.(517-519)tCg>tTg	p.S173L		NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	173					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	p.S173L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TTCCTGGCCTCGCCGCGGACG	0.632000													6	18					0	0	0.217242	0	0
ACTRT3	84517	broad.mit.edu	37	3	169487268	169487268	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr3:169487268G>C	ENST00000330368.2	-	1	415	c.41C>G	c.(40-42)tCg>tGg	p.S14W		NM_032487.4	NP_115876.3	Q9BYD9	ARPM1_HUMAN	actin-related protein T3	14						cytoplasm|cytoskeleton		p.S14W(1)									GATCATTCCCGAGCCGTTGTC	0.692000													20	73					0	0	0.654019	0	0
ITGA8	8516	broad.mit.edu	37	10	15689005	15689005	+	Silent	SNP	T	T	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr10:15689005T>C	ENST00000378076.3	-	12	1400	c.1047A>G	c.(1045-1047)gaA>gaG	p.E349E		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	349					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.E349E(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						TGCTCTCAAATTCACGTTCCA	0.502000													20	42					0	0	0.592651	0	0
ZNF662	389114	broad.mit.edu	37	3	42956829	42956829	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr3:42956829C>T	ENST00000541208.1	+	5	1633	c.1264C>T	c.(1264-1266)Cac>Tac	p.H422Y	KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000440367.2_Missense_Mutation_p.H422Y|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.H448Y			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H448Y(1)|p.H422Y(1)		breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TCAGATCTCTCACCTTCTTGA	0.398000													10	22					0	0	0.387290	0	0
KIAA0226	9711	broad.mit.edu	37	3	197444857	197444857	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr3:197444857G>C	ENST00000273582.5	-	2	575	c.30C>G	c.(28-30)atC>atG	p.I10M	KIAA0226_ENST00000467303.1_Intron|KIAA0226_ENST00000449205.1_Missense_Mutation_p.I70M|KIAA0226_ENST00000389665.5_Missense_Mutation_p.I70M|KIAA0226_ENST00000296343.5_Missense_Mutation_p.I70M	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	70					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	p.I10M(1)|p.I70M(1)		NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CCTGGTCACGGATAAGCCCGT	0.517000													14	82					0	0	0.479597	0	0
NPAS4	266743	broad.mit.edu	37	11	66191054	66191054	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr11:66191054G>C	ENST00000311034.2	+	6	990	c.814G>C	c.(814-816)Gag>Cag	p.E272Q		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	272	PAS 2.				transcription, DNA-dependent		DNA binding|signal transducer activity	p.E272Q(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCCAGTGGCTGAGAGTGGAGA	0.527000													19	37					0	0	0.608945	0	0
ZMYM5	9205	broad.mit.edu	37	13	20411849	20411849	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr13:20411849T>A	ENST00000337963.4	-	6	1249	c.985A>T	c.(985-987)Aaa>Taa	p.K329*	ZMYM5_ENST00000382907.4_3'UTR|ZMYM5_ENST00000382905.4_Nonsense_Mutation_p.K329*	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	329						nucleus	zinc ion binding	p.K329*(2)		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)		ACTCCTTTTTTAAGATTCCAG	0.318000													14	30					0	0	0.457914	0	0
ZIC4	84107	broad.mit.edu	37	3	147114065	147114065	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr3:147114065C>A	ENST00000383075.3	-	3	774	c.262G>T	c.(262-264)Gcc>Tcc	p.A88S	ZIC4_ENST00000473123.1_Missense_Mutation_p.A88S|ZIC4_ENST00000425731.3_Missense_Mutation_p.A126S|ZIC4_ENST00000525172.2_Missense_Mutation_p.A138S|ZIC4_ENST00000484399.1_Missense_Mutation_p.A88S|ZIC4_ENST00000491672.1_Intron	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	88	Poly-Ala.					nucleus	DNA binding|zinc ion binding	p.A88S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GCTGCCAGGGCGTCGCTGCGG	0.701000													6	6					3.59834e-05	3.97273e-05	0.217242	1	0
PIK3C2A	5286	broad.mit.edu	37	11	17124380	17124380	+	Splice_Site	SNP	T	T	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr11:17124380T>A	ENST00000265970.7	-	23	3681		c.e23-2		PIK3C2A_ENST00000540361.1_Splice_Site|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha						cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.?(1)		central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	CTCTGAAGCCTATAAAAAACA	0.308000													10	33					0	0	0.335167	0	0
WDR17	116966	broad.mit.edu	37	4	177077246	177077246	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr4:177077246C>A	ENST00000393643.2	+	18	2729	c.2477C>A	c.(2476-2478)tCa>tAa	p.S826*	WDR17_ENST00000507824.2_Nonsense_Mutation_p.S833*|WDR17_ENST00000280190.4_Nonsense_Mutation_p.S850*|WDR17_ENST00000508596.1_Nonsense_Mutation_p.S826*	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	850								p.S850*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AAAGCCCTGTCAATTGCACCA	0.378000													18	36					4.35082e-09	5.25953e-09	0.592651	1	0
KLHL1	57626	broad.mit.edu	37	13	70371027	70371027	+	Silent	SNP	G	G	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr13:70371027G>T	ENST00000377844.4	-	7	2241	c.1482C>A	c.(1480-1482)ggC>ggA	p.G494G	KLHL1_ENST00000545028.1_Silent_p.G301G	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	494					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.G494G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GCAGCCTTCTGCCATTCATCA	0.383000													11	89					0.000978159	0.00106152	0.387290	1	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													3	32					0	0	0.115264	0	0
NAALAD2	10003	broad.mit.edu	37	11	89891357	89891357	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr11:89891357C>T	ENST00000534061.1	+	7	1071	c.841C>T	c.(841-843)Cga>Tga	p.R281*	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Nonsense_Mutation_p.R281*|NAALAD2_ENST00000525171.1_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	281	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	p.R281*(2)|p.R281R(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GGGAATCCCCCGAATACCTGT	0.313000													34	76					0	0	0.804634	0	0
ORC5	5001	broad.mit.edu	37	7	103801549	103801549	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr7:103801549C>A	ENST00000545943.1	-	13	1349	c.724G>T	c.(724-726)Gtt>Ttt	p.V242F	ORC5_ENST00000297431.4_Missense_Mutation_p.V374F			O43913	ORC5_HUMAN	origin recognition complex, subunit 5	374					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	p.V374F(1)		kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						GTTGGAGCAACTCTGCTGTCC	0.348000													30	27					1.74807e-11	2.18223e-11	0.750413	1	0
FHOD3	80206	broad.mit.edu	37	18	34174788	34174788	+	Silent	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr18:34174788C>A	ENST00000257209.4	+	7	767	c.645C>A	c.(643-645)ctC>ctA	p.L215L	FHOD3_ENST00000591635.1_5'UTR|FHOD3_ENST00000359247.4_Silent_p.L215L|FHOD3_ENST00000445677.1_Silent_p.L215L|FHOD3_ENST00000590592.1_Silent_p.L215L	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	215	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.L215L(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AGCTGCTGCTCGTCTTTGTAG	0.532000													17	22					1.67942e-08	1.99987e-08	0.539581	1	0
CPSF1	29894	broad.mit.edu	37	8	145622980	145622980	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr8:145622980C>T	ENST00000349769.3	-	21	2282	c.2188G>A	c.(2188-2190)Gag>Aag	p.E730K		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	730					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	p.E730K(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CCCAGGCCCTCGGCCTCCGGG	0.716000													8	27					0	0	0.335167	0	0
PDE4C	5143	broad.mit.edu	37	19	18329147	18329147	+	Silent	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr19:18329147G>A	ENST00000355502.3	-	14	2098	c.1227C>T	c.(1225-1227)ctC>ctT	p.L409L	PDE4C_ENST00000594617.2_Silent_p.L409L|PDE4C_ENST00000539010.1_Silent_p.L178L|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000447275.2_Silent_p.L303L|PDE4C_ENST00000262805.11_Silent_p.L377L|PDE4C_ENST00000594465.2_Silent_p.L409L			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	409					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.L409L(1)		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)	GCAGTACCTCGAGGGCGGGCG	0.662000													33	64					0	0	0.779181	0	0
SLC17A6	57084	broad.mit.edu	37	11	22364898	22364898	+	Silent	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr11:22364898C>T	ENST00000263160.3	+	3	882	c.445C>T	c.(445-447)Ctg>Ttg	p.L149L		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	149					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.L149L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CGCGTCTCGGCTGGCAGCCAA	0.597000													19	44					0	0	0.557998	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr17:45128812C>T	ENST00000575173.1	-	0	418																											AGTCCTGTTTCTGTGTGGATT	0.373000													3	29					0	0	0.115264	0	0
LRRC66	339977	broad.mit.edu	37	4	52861875	52861875	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr4:52861875G>A	ENST00000343457.3	-	4	1319	c.1313C>T	c.(1312-1314)cCa>cTa	p.P438L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	438						integral to membrane		p.P438Q(1)|p.P438L(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ATGGGTCTCTGGGTGTGGTGT	0.547000													21	50					0	0	0.608945	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													4	33					0.184627	0.193757	0.184627	1	0
TAP2	6891	broad.mit.edu	37	6	32797214	32797214	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr6:32797214T>C	ENST00000374897.2	-	11	2026	c.1895A>G	c.(1894-1896)gAg>gGg	p.E632G	TAP2_ENST00000452392.2_Missense_Mutation_p.E632G|TAP2_ENST00000374899.4_Missense_Mutation_p.E632G	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	632	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	p.E632G(2)									ACTAGTAGCCTCATCCAGGAT	0.637000													3	10					0	0	0.150653	0	0
TJP1	7082	broad.mit.edu	37	15	30053374	30053374	+	Silent	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr15:30053374G>A	ENST00000346128.6	-	8	1452	c.978C>T	c.(976-978)tcC>tcT	p.S326S	TJP1_ENST00000400011.2_Silent_p.S330S|TJP1_ENST00000545208.2_Silent_p.S326S|TJP1_ENST00000495972.2_Silent_p.S326S|TJP1_ENST00000356107.6_Silent_p.S326S	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	326					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		p.S326S(1)		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)		GCGAGTGCCTGGAATGATCAG	0.507000													15	42					0	0	0.520397	0	0
GREB1	9687	broad.mit.edu	37	2	11750922	11750922	+	Silent	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr2:11750922G>A	ENST00000381486.2	+	18	3075	c.2775G>A	c.(2773-2775)tcG>tcA	p.S925S	GREB1_ENST00000234142.5_Silent_p.S925S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	925						integral to membrane		p.S925S(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACTACACGTCGGTGGAGACGC	0.657000													18	54					0	0	0.539581	0	0
IRS1	3667	broad.mit.edu	37	2	227663232	227663232	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr2:227663232G>A	ENST00000305123.4	-	1	1243	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	75	Mediates interaction with PHIP (By similarity).|PH.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.R75W(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GAGTCAGCCCGCTTGTTGATG	0.612000													28	142					0	0	0.769981	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185968	127185968	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chrX:127185968G>T	ENST00000371124.3	-	1	414	c.218C>A	c.(217-219)cCc>cAc	p.P73H		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	73						cytoplasm|cytoskeleton		p.P73H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						ACGCTCAATGGGGTAGTGCAA	0.473000													60	52					1.14385e-22	1.56054e-22	0.870114	1	0
XYLT1	64131	broad.mit.edu	37	16	17232349	17232349	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr16:17232349C>T	ENST00000261381.6	-	8	1711	c.1627G>A	c.(1627-1629)Gac>Aac	p.D543N	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	543					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.D543N(2)		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						ACCATGGTGTCGCAGTGGGGG	0.612000													16	28					0	0	0.539581	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5237117	5237117	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr5:5237117G>T	ENST00000274181.7	+	14	2197	c.2059G>T	c.(2059-2061)Gga>Tga	p.G687*	ADAMTS16_ENST00000513709.1_Intron	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	687	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G687*(2)		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						TATCGCAGAAGGATTTGATTT	0.348000													23	84					1.66031e-10	2.05921e-10	0.667858	1	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632000													3	39					0	0	0.217242	0	0
LDB3	11155	broad.mit.edu	37	10	88441312	88441312	+	Silent	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr10:88441312C>T	ENST00000429277.2	+	5	586	c.441C>T	c.(439-441)tcC>tcT	p.S147S	LDB3_ENST00000542786.1_Silent_p.S147S|LDB3_ENST00000310944.6_Silent_p.S147S|LDB3_ENST00000361373.4_Silent_p.S147S|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000372056.4_Silent_p.S147S|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000263066.6_Intron|LDB3_ENST00000372066.3_Intron	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	147						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	p.S147S(3)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CTGCCTTCTCCCGGCCCTCCG	0.741000													9	31					0	0	0.307466	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		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)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								3	28					0	0	0.184627	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1818265	1818265	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr16:1818265G>A	ENST00000250894.4	+	30	3782	c.3625G>A	c.(3625-3627)Gat>Aat	p.D1209N	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.D1203N	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1209					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	p.D1215N(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CGTGTATGGCGATGACAGCAG	0.642000													37	61					0	0	0.804634	0	0
FAM114A2	10827	broad.mit.edu	37	5	153382469	153382469	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr5:153382469C>T	ENST00000351797.4	-	10	1130	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K	FAM114A2_ENST00000522858.1_Missense_Mutation_p.E352K|FAM114A2_ENST00000520313.1_Missense_Mutation_p.E282K|FAM114A2_ENST00000520667.1_Missense_Mutation_p.E352K	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	352							purine nucleotide binding	p.E352K(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						TCTCCTTCTTCATTCTCTGCT	0.378000													36	79					0	0	0.788014	0	0
OR4M2	390538	broad.mit.edu	37	15	22369133	22369133	+	Silent	SNP	G	G	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr15:22369133G>T	ENST00000332663.2	+	1	656	c.558G>T	c.(556-558)cgG>cgT	p.R186R	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R186R(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		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)		AGGTTGTCCGGATTGCCTGTG	0.458000													29	370					1.67305e-13	2.18871e-13	0.819951	1	0
LOC728715	728715	broad.mit.edu	37	12	9723401	9723401	+	RNA	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr12:9723401C>T	ENST00000520314.1	+	0	6081																											ACGGTCATAACCGCCTACTGG	0.473000													3	21					0	0	0.387290	0	0
SLC24A3	57419	broad.mit.edu	37	20	19677462	19677462	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr20:19677462C>A	ENST00000328041.6	+	14	1710	c.1513C>A	c.(1513-1515)Ctg>Atg	p.L505M		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	505						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.L505M(1)		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						TGGTTACACCCTGGGGATTCC	0.572000													13	32					2.23348e-06	2.56985e-06	0.500413	1	0
IL22RA1	58985	broad.mit.edu	37	1	24447964	24447964	+	Silent	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr1:24447964G>A	ENST00000270800.1	-	7	1094	c.1056C>T	c.(1054-1056)gcC>gcT	p.A352A		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	352						integral to membrane	interferon receptor activity	p.A352A(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		CAGCGTTTGGGGCATAGGACA	0.607000													11	38					0	0	0.435327	0	0
SI	6476	broad.mit.edu	37	3	164735446	164735446	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr3:164735446C>A	ENST00000264382.3	-	31	3711	c.3649G>T	c.(3649-3651)Gtc>Ttc	p.V1217F		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1217	Sucrase.				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	p.V1217F(1)		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)	GCTGGCATGACTGGATGGCCA	0.323000										HNSCC(35;0.089)			8	36					0.000157383	0.000171773	0.278610	1	0
OLFM4	10562	broad.mit.edu	37	13	53617300	53617300	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr13:53617300G>T	ENST00000219022.2	+	4	709	c.631G>T	c.(631-633)Gcc>Tcc	p.A211S		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	211					cell adhesion	extracellular space		p.A211S(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		CAATGTCCTTGCCATTCGCCG	0.438000													22	29					1.50039e-11	1.88536e-11	0.608945	1	0
CPD	1362	broad.mit.edu	37	17	28791658	28791658	+	Silent	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr17:28791658C>T	ENST00000225719.4	+	21	4045	c.3969C>T	c.(3967-3969)tgC>tgT	p.C1323C	CPD_ENST00000543464.2_Silent_p.C1076C	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	1323					proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	p.C1323C(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GGTGCATCTGCTCAATCAAGT	0.413000													38	129					0	0	0.804634	0	0
MEFV	4210	broad.mit.edu	37	16	3294567	3294567	+	Silent	SNP	A	A	G			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr16:3294567A>G	ENST00000219596.1	-	7	1671	c.1632T>C	c.(1630-1632)ccT>ccC	p.P544P	MEFV_ENST00000541159.1_Silent_p.P333P|MEFV_ENST00000339854.4_Silent_p.P364P|MEFV_ENST00000536379.1_Silent_p.P333P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	544					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	p.P333P(1)|p.P544P(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	TCCACTTTTCAGGGACAGGCA	0.498000													3	46					0	0	0.115264	0	0
SOX9	6662	broad.mit.edu	37	17	70117755	70117755	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr17:70117755G>A	ENST00000245479.2	+	1	595	c.223G>A	c.(223-225)Gag>Aag	p.E75K		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	75					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	p.E75K(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			GTGCATCCGCGAGGCGGTCAG	0.652000													4	7					0	0	0.184627	0	0
STRA8	346673	broad.mit.edu	37	7	134939900	134939900	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr7:134939900G>C	ENST00000275764.3	+	8	841	c.841G>C	c.(841-843)Gag>Cag	p.E281Q		NM_182489.1	NP_872295.1	Q7Z7C7	STRA8_HUMAN	stimulated by retinoic acid 8	281					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus		p.E281Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						AGAAAACCCAGAGGAGAAGTT	0.453000													14	100					0	0	0.500413	0	0
COL11A1	1301	broad.mit.edu	37	1	103540213	103540213	+	Silent	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr1:103540213C>T	ENST00000358392.2	-	4	929	c.612G>A	c.(610-612)acG>acA	p.T204T	COL11A1_ENST00000370096.3_Silent_p.T204T|COL11A1_ENST00000512756.1_Silent_p.T204T|COL11A1_ENST00000353414.4_Silent_p.T204T	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	204	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.T204T(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTCCAAAAACCGTGATTCCAT	0.348000													13	29					0	0	0.435327	0	0
DGKI	9162	broad.mit.edu	37	7	137151674	137151674	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr7:137151674G>A	ENST00000453654.1	-	26	2151	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	DGKI_ENST00000446122.1_Intron|DGKI_ENST00000288490.5_Intron|DGKI_ENST00000424189.2_Missense_Mutation_p.R841C			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	832					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						CGATAAAAGCGATCAGCAGAA	0.383000													5	32					0	0	0.184627	0	0
PHF19	26147	broad.mit.edu	37	9	123626344	123626344	+	Silent	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr9:123626344C>T	ENST00000373896.3	-	10	1203	c.951G>A	c.(949-951)ctG>ctA	p.L317L	PHF19_ENST00000419155.1_Silent_p.L108L|PHF19_ENST00000487555.1_5'UTR	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.L317L(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TATAACTGTTCAGAGCGTTGA	0.577000													13	13					0	0	0.411799	0	0
NAA16	79612	broad.mit.edu	37	13	41894957	41894957	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr13:41894957C>A	ENST00000379406.3	+	4	723	c.399C>A	c.(397-399)taC>taA	p.Y133*	NAA16_ENST00000379367.3_Nonsense_Mutation_p.Y133*|NAA16_ENST00000403412.3_Nonsense_Mutation_p.Y133*	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	133					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	p.Y133*(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TTGAAGGTTACCGAGTAAGTA	0.353000													11	18					5.50884e-06	6.22596e-06	0.411799	1	0
IGKV1-16	28938	broad.mit.edu	37	2	89399370	89399370	+	RNA	SNP	T	T	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr2:89399370T>C	ENST00000479981.1	-	0	359																											TATTATACTGTTGGCAGTAAT	0.517000													35	72					0	0	0.859065	0	0
ZSCAN9	7746	broad.mit.edu	37	6	28194989	28194989	+	Missense_Mutation	SNP	A	A	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr6:28194989A>C	ENST00000527436.1	+	2	228	c.127A>C	c.(127-129)Agt>Cgt	p.S43R	ZSCAN9_ENST00000531979.1_Missense_Mutation_p.S43R|ZSCAN9_ENST00000425468.2_Missense_Mutation_p.S43R|ZSCAN9_ENST00000252207.5_Missense_Mutation_p.S43R|ZSCAN9_ENST00000531981.1_Missense_Mutation_p.S43R					zinc finger and SCAN domain containing 9									p.S43R(1)									ACTGAAACGCAGTAATCCACT	0.507000													10	19					0	0	0.387290	0	0
GOLGA8EP	390535	broad.mit.edu	37	15	23445513	23445513	+	RNA	SNP	A	A	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr15:23445513A>T	ENST00000526079.1	+	0	2333					NR_027407.1|NR_033350.1																						AAAGAAACAAAGTTATGGGGT	0.338000													4	78					0	0	0.150653	0	0
SLIT2	9353	broad.mit.edu	37	4	20568974	20568974	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr4:20568974G>T	ENST00000504154.1	+	27	3067	c.2815G>T	c.(2815-2817)Gac>Tac	p.D939Y	SLIT2_ENST00000503837.1_Missense_Mutation_p.D935Y|SLIT2_ENST00000503823.1_Missense_Mutation_p.D931Y|SLIT2_ENST00000273739.5_Missense_Mutation_p.D943Y	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	939	EGF-like 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	p.D939Y(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGATCCAGTTGACTTTTACCG	0.378000													39	83					2.59497e-14	3.44194e-14	0.834066	1	0
HEATR6	63897	broad.mit.edu	37	17	58127025	58127025	+	Silent	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr17:58127025C>T	ENST00000184956.6	-	16	2479	c.2463G>A	c.(2461-2463)ggG>ggA	p.G821G	HEATR6_ENST00000585976.1_Silent_p.G709G	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	821							binding	p.G821G(1)		NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TGTCATTCAGCCCGAGCAGCA	0.483000													12	27					0	0	0.411799	0	0
PCOLCE	5118	broad.mit.edu	37	7	100201147	100201147	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr7:100201147A>T	ENST00000223061.5	+	2	470	c.190A>T	c.(190-192)Atc>Ttc	p.I64F	PCOLCE_ENST00000496269.1_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000446022.1_RNA	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	64	CUB 1.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	p.I64F(1)		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)					TAAGGAGTGCATCTGGACCAT	0.592000													17	11					0	0	0.539581	0	0
SKI	6497	broad.mit.edu	37	1	2234506	2234506	+	Silent	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr1:2234506C>T	ENST00000378536.4	+	2	1131	c.1059C>T	c.(1057-1059)tcC>tcT	p.S353S	SKI_ENST00000478223.2_3'UTR	NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	v-ski avian sarcoma viral oncogene homolog	353					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S353S(1)		central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		ACAAGCCGTCCAGCTGGCTGC	0.622000													23	39					0	0	0.729181	0	0
HSPA12A	259217	broad.mit.edu	37	10	118451919	118451919	+	Silent	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr10:118451919C>T	ENST00000369209.3	-	6	710	c.606G>A	c.(604-606)acG>acA	p.T202T		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	202							ATP binding	p.T823T(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TGGCAGGCACCGTGATGACCC	0.582000													38	110					0	0	0.834066	0	0
CSMD3	114788	broad.mit.edu	37	8	113657409	113657409	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr8:113657409G>T	ENST00000297405.5	-	20	3483	c.3239C>A	c.(3238-3240)tCa>tAa	p.S1080*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S976*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S1080*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S1040*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1080	CUB 6.					integral to membrane|plasma membrane		p.S1080*(1)|p.S1040*(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTAACCAGGTGATAAGATTGT	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	27					2.32078e-09	2.82337e-09	0.479597	1	0
CCDC57	284001	broad.mit.edu	37	17	80159587	80159587	+	Silent	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr17:80159587G>A	ENST00000392347.1	-	2	270	c.234C>T	c.(232-234)ttC>ttT	p.F78F	CCDC57_ENST00000392343.3_Silent_p.F78F|CCDC57_ENST00000389641.4_Silent_p.F78F	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	78								p.F78F(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TGGCCTGGGCGAAGGCGGCGT	0.647000													11	41					0	0	0.387290	0	0
CCDC108	255101	broad.mit.edu	37	2	219900114	219900114	+	Missense_Mutation	SNP	T	T	G			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr2:219900114T>G	ENST00000295729.2	-	4	558	c.435A>C	c.(433-435)aaA>aaC	p.K145N	CCDC108_ENST00000453220.1_Intron|CCDC108_ENST00000410037.1_Intron|CCDC108_ENST00000341552.5_Intron|CCDC108_ENST00000441968.1_Intron|CCDC108_ENST00000324264.6_Missense_Mutation_p.K145N|CCDC108_ENST00000409865.3_Intron	NM_152389.2	NP_689602.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	0						integral to membrane	structural molecule activity	p.K145N(1)		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)		TTAAAGgttttttttgtttgt	0.373000													4	17					0	0	0.150653	0	0
TNFRSF8	943	broad.mit.edu	37	1	12186060	12186060	+	Silent	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr1:12186060C>T	ENST00000263932.2	+	11	1428	c.1206C>T	c.(1204-1206)agC>agT	p.S402S	TNFRSF8_ENST00000417814.2_Silent_p.S291S|TNFRSF8_ENST00000479933.2_3'UTR|TNFRSF8_ENST00000413146.2_5'UTR	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	402			S -> G (in dbSNP:rs2230625).		cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		p.S402S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		TCGGCTCCAGCGCCTTCCTCC	0.612000													34	40					0	0	0.819951	0	0
ZC3H4	23211	broad.mit.edu	37	19	47597309	47597309	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr19:47597309G>C	ENST00000253048.5	-	4	447	c.410C>G	c.(409-411)tCt>tGt	p.S137C	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	137							nucleic acid binding|zinc ion binding	p.S137C(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TGAGAAGTCAGAGAAGTCATC	0.567000													18	57					0	0	0.557998	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160637477	160637477	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr2:160637477C>G	ENST00000504764.1	-	36	5161	c.5134G>C	c.(5134-5136)Gaa>Caa	p.E1712Q	CD302_ENST00000259053.4_Missense_Mutation_p.E71Q|LY75_ENST00000554112.1_Missense_Mutation_p.E1712Q|CD302_ENST00000480212.1_5'UTR|LY75_ENST00000553424.1_Missense_Mutation_p.E1656Q|CD302_ENST00000429078.2_Missense_Mutation_p.E71Q|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.E1656Q	NM_001198759.1	NP_001185688.1	O60449	LY75_HUMAN		1580					endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	p.E71Q(1)									AAAGCATTTTCTTCTTCATTA	0.333000													22	55					0	0	0.608945	0	0
LRRK1	79705	broad.mit.edu	37	15	101567857	101567857	+	Silent	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr15:101567857C>T	ENST00000284395.5	+	20	2932	c.2532C>T	c.(2530-2532)taC>taT	p.Y844Y	LRRK1_ENST00000388948.3_Silent_p.Y847Y			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	847					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.Y847Y(1)|p.Y859Y(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCAGGAGCTACCTGAGCCTGC	0.692000													4	5					0	0	0.150653	0	0
DNAH5	1767	broad.mit.edu	37	5	13850862	13850862	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr5:13850862T>A	ENST00000265104.4	-	31	5117	c.5013A>T	c.(5011-5013)gaA>gaT	p.E1671D		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1671	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E1671D(1)		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)					CACTGGGCACTTCATGTGCCC	0.468000									Kartagener syndrome				25	51					0	0	0.639603	0	0
THAP4	51078	broad.mit.edu	37	2	242572493	242572493	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr2:242572493C>A	ENST00000407315.1	-	2	1510	c.1079G>T	c.(1078-1080)tGc>tTc	p.C360F		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	360							DNA binding|metal ion binding	p.C360F(1)		kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		CCGCAGGCAGCACACCTGGCT	0.622000													12	34					2.27111e-07	2.62898e-07	0.411799	1	0
SORBS1	10580	broad.mit.edu	37	10	97081774	97081774	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr10:97081774G>A	ENST00000371247.2	-	31	3833	c.3644C>T	c.(3643-3645)cCt>cTt	p.P1215L	SORBS1_ENST00000354106.3_Missense_Mutation_p.P927L|SORBS1_ENST00000393949.1_Missense_Mutation_p.P927L|SORBS1_ENST00000371227.4_Missense_Mutation_p.P1189L|SORBS1_ENST00000607232.1_Missense_Mutation_p.P1217L|SORBS1_ENST00000371239.1_Missense_Mutation_p.P734L|SORBS1_ENST00000347291.4_Missense_Mutation_p.P769L|SORBS1_ENST00000371246.2_Missense_Mutation_p.P1074L|SORBS1_ENST00000353505.5_Missense_Mutation_p.P828L|SORBS1_ENST00000277982.5_Missense_Mutation_p.P1074L|SORBS1_ENST00000371245.3_Missense_Mutation_p.P828L|SORBS1_ENST00000306402.6_Missense_Mutation_p.P704L|SORBS1_ENST00000371249.2_Missense_Mutation_p.P739L|SORBS1_ENST00000371241.1_Missense_Mutation_p.P607L|SORBS1_ENST00000361941.3_Missense_Mutation_p.P1215L			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	1215					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	p.P828L(1)|p.P1215L(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CTGGGCTTGAGGTTGCTGAGA	0.443000													24	58					0	0	0.654019	0	0
SNHG14	104472715	broad.mit.edu	37	15	25427429	25427429	+	RNA	SNP	G	G	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr15:25427429G>T	ENST00000424208.1	+	0	226					NR_003305.1																						CTGGTGCACTGAAGATCGGGC	0.637000													15	38					4.93089e-13	6.4068e-13	0.457914	1	0
GALP	85569	broad.mit.edu	37	19	56688495	56688495	+	Silent	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr19:56688495C>T	ENST00000357330.2	+	2	100	c.18C>T	c.(16-18)gtC>gtT	p.V6V	GALP_ENST00000590002.1_Silent_p.V6V|GALP_ENST00000440823.1_Silent_p.V6V	NM_033106.3	NP_149097.1	Q9UBC7	GALP_HUMAN	galanin-like peptide	6					neuropeptide signaling pathway	extracellular region	hormone activity	p.V6V(1)		lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		CTCCCTCCGTCCCCCTGGTCC	0.637000													9	11					0	0	0.387290	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116056837	116056837	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr10:116056837G>A	ENST00000369271.3	-	18	2618	c.2318C>T	c.(2317-2319)tCt>tTt	p.S773F	AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.S830F|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.S777F	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	777					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	p.S777F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GTCTGGGGCAGAGGCAGGTGT	0.582000													10	25					0	0	0.335167	0	0
ADRA1B	147	broad.mit.edu	37	5	159344165	159344165	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr5:159344165G>T	ENST00000306675.3	+	1	376	c.253G>T	c.(253-255)Gtc>Ttc	p.V85F		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	85					cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity	p.V85F(1)		endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	CTACTTCATTGTCAACCTGGC	0.612000													44	58					4.10826e-27	5.72758e-27	0.870114	1	0
CTNNA2	1496	broad.mit.edu	37	2	80646673	80646673	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr2:80646673G>T	ENST00000466387.1	+	13	1961	c.1237G>T	c.(1237-1239)Gaa>Taa	p.E413*	CTNNA2_ENST00000541047.1_Nonsense_Mutation_p.E413*|CTNNA2_ENST00000361291.4_Nonsense_Mutation_p.E447*|CTNNA2_ENST00000496558.1_Nonsense_Mutation_p.E413*|CTNNA2_ENST00000343114.3_Nonsense_Mutation_p.E92*|CTNNA2_ENST00000540488.1_Nonsense_Mutation_p.E413*|CTNNA2_ENST00000402739.4_Nonsense_Mutation_p.E413*			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	413					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.E413*(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AAATGAAAAGGAAGTGAAAGA	0.453000													11	50					3.07112e-06	3.51248e-06	0.387290	1	0
PTPN6	5777	broad.mit.edu	37	12	7066919	7066919	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr12:7066919C>T	ENST00000456013.1	+	10	1419	c.1177C>T	c.(1177-1179)Cgt>Tgt	p.R393C	PTPN6_ENST00000399448.1_Missense_Mutation_p.R395C|PTPN6_ENST00000447931.2_Missense_Mutation_p.R354C|PTPN6_ENST00000318974.9_Missense_Mutation_p.R393C	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	393	Tyrosine-protein phosphatase.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|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|membrane|nucleus	protein binding|protein tyrosine phosphatase activity	p.R393C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						ATACAAACTCCGTACCTTACA	0.602000													8	67					0	0	0.307466	0	0
CNRIP1	25927	broad.mit.edu	37	2	68544214	68544214	+	Silent	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr2:68544214G>A	ENST00000409862.1	-	3	586	c.405C>T	c.(403-405)atC>atT	p.I135I	CNRIP1_ENST00000409559.3_Intron|CNRIP1_ENST00000481714.1_Intron|CNRIP1_ENST00000263655.3_Intron			Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	0							protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						CTTACAGAGAGATAGTGATTG	0.438000													17	46					0	0	0.520397	0	0
NDN	4692	broad.mit.edu	37	15	23932094	23932094	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr15:23932094C>G	ENST00000331837.4	-	1	356	c.271G>C	c.(271-273)Gca>Cca	p.A91P		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	91					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	p.A91P(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GCTGGCGGTGCCGGGCCCGGC	0.701000									Prader-Willi syndrome				18	33					0	0	0.557998	0	0
C3AR1	719	broad.mit.edu	37	12	8211356	8211356	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr12:8211356C>G	ENST00000307637.4	-	2	1629	c.1426G>C	c.(1426-1428)Gaa>Caa	p.E476Q		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	476					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	p.E476Q(1)		breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		CTATTTCTTTCTGAAATGACA	0.453000													140	118					0	0	0.870114	0	0
OR5M10	390167	broad.mit.edu	37	11	56344632	56344632	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr11:56344632C>A	ENST00000526812.2	-	1	631	c.566G>T	c.(565-567)tGc>tTc	p.C189F		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C189F(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GGTGTCAGAGCAGGCCAGCAT	0.448000													7	21					0.00448238	0.00480975	0.307466	1	0
CUX1	1523	broad.mit.edu	37	7	101870706	101870706	+	Missense_Mutation	SNP	A	A	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr7:101870706A>C	ENST00000360264.3	+	21	3243	c.3223A>C	c.(3223-3225)Agt>Cgt	p.S1075R	CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.S906R|CUX1_ENST00000292535.7_Missense_Mutation_p.S1064R|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.S962R|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.S1008R|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.S1042R|CUX1_ENST00000547394.2_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1064					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S1064R(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GATGAGTTCCAGTGAGTCGGT	0.602000													71	65					0	0	0.870114	0	0
CHRM5	1133	broad.mit.edu	37	15	34355794	34355794	+	Silent	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr15:34355794C>A	ENST00000383263.5	+	3	1546	c.876C>A	c.(874-876)gcC>gcA	p.A292A	CHRM5_ENST00000557872.1_Silent_p.A292A	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	292					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.A292A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	GCCCAAGCGCCAATTGGGCCA	0.627000													27	67					1.68575e-08	1.99987e-08	0.717897	1	0
ADAM11	4185	broad.mit.edu	37	17	42849012	42849012	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr17:42849012G>A	ENST00000200557.6	+	5	611	c.442G>A	c.(442-444)Gcc>Acc	p.A148T	ADAM11_ENST00000535346.1_5'UTR	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	148					integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.A148T(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CTCCTTCGCCGCCCTCTCCAC	0.687000													13	52					0	0	0.479597	0	0
WDR62	284403	broad.mit.edu	37	19	36590345	36590345	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr19:36590345G>T	ENST00000401500.2	+	22	2600	c.2565G>T	c.(2563-2565)aaG>aaT	p.K855N	WDR62_ENST00000270301.7_Missense_Mutation_p.K855N	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	855					cerebral cortex development	nucleus		p.K855N(1)		cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCCACGCCAAGCGCAGCTACC	0.622000													4	45					1.23904e-05	1.38396e-05	0.184627	1	0
LONP1	9361	broad.mit.edu	37	19	5720022	5720022	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr19:5720022C>T	ENST00000360614.3	-	1	279	c.122G>A	c.(121-123)cGa>cAa	p.R41Q	LONP1_ENST00000585374.1_Intron|LONP1_ENST00000593119.1_Missense_Mutation_p.R41Q|LONP1_ENST00000540670.2_Intron|LONP1_ENST00000590511.1_5'UTR	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	41				MAASTGYVRLWGAARCWVLRRPMLAAAGGRVPTAAGAWLLR GQRTCDASPPWALW -> MAGLWRRALATCDCGERRGAGCC GGRCWPRRGAGSHCSRSVVAPRPADLRRLSSLGTV (in Ref. 1; AAA61616).	cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	p.R41Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCGCTGGCCTCGGAGCAACCA	0.741000													3	2					0	0	0.115264	0	0
E2F6	1876	broad.mit.edu	37	2	11593783	11593783	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr2:11593783C>T	ENST00000381525.3	-	3	574	c.305G>A	c.(304-306)aGa>aAa	p.R102K	E2F6_ENST00000307236.4_Missense_Mutation_p.R70K|E2F6_ENST00000546212.1_Missense_Mutation_p.R27K|E2F6_ENST00000362009.4_Missense_Mutation_p.R102K|E2F6_ENST00000542100.1_Missense_Mutation_p.R27K	NM_198256.2	NP_937987.2	O75461	E2F6_HUMAN	E2F transcription factor 6	102					negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity	p.R102K(1)		cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		GTCATACACTCTCCGCTTTCG	0.403000													27	101					0	0	0.667858	0	0
RXFP1	59350	broad.mit.edu	37	4	159538326	159538326	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr4:159538326C>A	ENST00000307765.5	+	9	975	c.724C>A	c.(724-726)Ctc>Atc	p.L242I	RXFP1_ENST00000448688.2_Missense_Mutation_p.L161I|RXFP1_ENST00000343542.5_Missense_Mutation_p.L242I|RXFP1_ENST00000460056.2_Missense_Mutation_p.L161I|RXFP1_ENST00000470033.1_Missense_Mutation_p.L209I	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	242						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	p.L242I(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TGATAAACCTCTCTGTCAACA	0.368000													4	71					0.150653	0.15986	0.150653	1	0
CLMP	79827	broad.mit.edu	37	11	122953875	122953875	+	Silent	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr11:122953875G>A	ENST00000448775.2	-	5	937	c.597C>T	c.(595-597)acC>acT	p.T199T	CLMP_ENST00000530371.1_5'UTR	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	199	Ig-like C2-type 2.					integral to membrane|tight junction		p.T199T(1)		endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						AGTAGGACATGGTAAGATTCT	0.458000													28	44					0	0	0.706142	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576834	158576834	+	Silent	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr1:158576834C>T	ENST00000361284.1	+	1	606	c.606C>T	c.(604-606)ctC>ctT	p.L202L		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L202L(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TCTTTATCCTCAGTCTTTTGG	0.522000													38	66					0	0	0.812448	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147336253	147336253	+	Silent	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr7:147336253C>T	ENST00000361727.3	+	13	2469	c.1953C>T	c.(1951-1953)gtC>gtT	p.V651V		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	651	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.V651V(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CGCCTGTGGTCGGCTACAACC	0.507000										HNSCC(39;0.1)			27	67					0	0	0.681144	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37506654	37506654	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr10:37506654A>G	ENST00000374660.1	+	39	3403	c.3304A>G	c.(3304-3306)Aga>Gga	p.R1102G	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.R983G|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.R983G			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1095						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.R983G(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGAGAAGAGAAGAAATGCCGA	0.303000													9	36					0	0	0.307466	0	0
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	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													4	65					0	0	0.217242	0	0
TOR3A	64222	broad.mit.edu	37	1	179064160	179064160	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr1:179064160C>G	ENST00000367627.3	+	6	1753	c.1001C>G	c.(1000-1002)cCc>cGc	p.P334R	TOR3A_ENST00000352445.6_Intron	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	334					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding	p.P334R(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TACTTCATCCCCTTCCTGCCT	0.507000													28	55					0	0	0.729181	0	0
CA3	761	broad.mit.edu	37	8	86360276	86360276	+	Missense_Mutation	SNP	G	G	T	rs142979911		TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr8:86360276G>T	ENST00000285381.2	+	7	760	c.677G>T	c.(676-678)cGg>cTg	p.R226L	RP11-317J10.2_ENST00000517697.1_RNA|RP11-317J10.2_ENST00000521761.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	226					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	p.R226L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GCCAAGCTGCGGAGCCTCCTC	0.542000													9	20					1.76689e-08	2.08319e-08	0.335167	1	0
PITX1	5307	broad.mit.edu	37	5	134364901	134364901	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr5:134364901G>T	ENST00000265340.7	-	3	929	c.513C>A	c.(511-513)taC>taA	p.Y171*	PITX1_ENST00000506438.1_Nonsense_Mutation_p.Y171*	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	171	Interacts with PIT-1 (By similarity).					nucleolus	sequence-specific DNA binding	p.Y171*(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		ACACGTCCTCGTAGGGCTGCA	0.637000													16	35					4.14922e-12	5.28879e-12	1	1	0
CDH15	1013	broad.mit.edu	37	16	89245975	89245975	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr16:89245975T>C	ENST00000289746.2	+	2	259	c.194T>C	c.(193-195)cTg>cCg	p.L65P	CDH15_ENST00000521087.1_3'UTR	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	65	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	p.L65P(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CCCTACCCCCTGGTTCAGGTG	0.682000													10	25					0	0	1	0	0
GTDC1	79712	broad.mit.edu	37	2	144899585	144899585	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr2:144899585T>A	ENST00000409214.1	-	6	663	c.385A>T	c.(385-387)Aat>Tat	p.N129Y	GTDC1_ENST00000241391.5_Missense_Mutation_p.N129Y|GTDC1_ENST00000463875.2_5'UTR|GTDC1_ENST00000392867.3_Missense_Mutation_p.N129Y|GTDC1_ENST00000392869.1_Missense_Mutation_p.N129Y|GTDC1_ENST00000542155.1_Missense_Mutation_p.N129Y|GTDC1_ENST00000409298.1_Missense_Mutation_p.N129Y|GTDC1_ENST00000344850.4_Missense_Mutation_p.N129Y	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	129					biosynthetic process		transferase activity, transferring glycosyl groups	p.N129Y(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		GATTCCATATTAAAAACTGAG	0.393000													12	30					0	0	1	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55331433	55331433	+	Silent	SNP	A	A	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr19:55331433A>T	ENST00000391728.4	+	4	654	c.621A>T	c.(619-621)tcA>tcT	p.S207S	KIR3DL1_ENST00000358178.4_Silent_p.S112S|KIR3DL1_ENST00000541392.1_Silent_p.S207S|KIR3DL1_ENST00000538269.1_Silent_p.S207S|KIR3DL1_ENST00000402254.2_Silent_p.S207S|KIR3DL1_ENST00000326542.7_Silent_p.S207S	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1									p.S207S(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		ATCAGTTGTCAGCTCCCAGTG	0.522000													104	43					0	0	1	0	0
CC2D1B	200014	broad.mit.edu	37	1	52828349	52828349	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr1:52828349C>G	ENST00000371586.2	-	3	277	c.139G>C	c.(139-141)Gac>Cac	p.D47H	CC2D1B_ENST00000284376.3_Missense_Mutation_p.D47H|CC2D1B_ENST00000438831.1_5'UTR	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	47										breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						GCCTCCAGGTCCTCATCATCT	0.577000													3	107					0	0	1	0	0
ALPK1	80216	broad.mit.edu	37	4	113348782	113348782	+	Silent	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr4:113348782C>T	ENST00000458497.1	+	9	1035	c.756C>T	c.(754-756)aaC>aaT	p.N252N	ALPK1_ENST00000177648.9_Silent_p.N252N|ALPK1_ENST00000504176.2_Silent_p.N174N	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	252							ATP binding|protein serine/threonine kinase activity	p.N252N(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TGAGCAAGAACGATTATGAAA	0.388000													7	20					0	0	1	0	0
LGR4	55366	broad.mit.edu	37	11	27390166	27390166	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr11:27390166G>C	ENST00000379214.4	-	18	2547	c.2104C>G	c.(2104-2106)Cca>Gca	p.P702A	LGR4_ENST00000389858.4_Missense_Mutation_p.P678A	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	702						integral to membrane|plasma membrane	protein-hormone receptor activity	p.P702A(1)		NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CCTAATGATGGCGTTTCACCT	0.408000													22	44					0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123067518	123067518	+	Silent	SNP	A	A	G			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr12:123067518A>G	ENST00000333479.7	+	34	3426	c.3249A>G	c.(3247-3249)gcA>gcG	p.A1083A	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1083					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	p.A1083A(1)		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)		TCAAAACAGCACTGAAAAAAT	0.483000													9	6					0	0	1	0	0
CPNE6	9362	broad.mit.edu	37	14	24543955	24543955	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr14:24543955G>T	ENST00000397016.2	+	8	934	c.623G>T	c.(622-624)cGc>cTc	p.R208L	CPNE6_ENST00000216775.2_Missense_Mutation_p.R208L|CPNE6_ENST00000537691.1_Missense_Mutation_p.R263L			O95741	CPNE6_HUMAN	copine VI (neuronal)	208	C2 2.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity	p.R208L(1)		endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		GAGCCGTTCCGCCTGTCCCTG	0.557000													3	7					1	1	1	1	0
TTLL2	83887	broad.mit.edu	37	6	167754296	167754296	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr6:167754296A>G	ENST00000239587.5	+	3	996	c.908A>G	c.(907-909)aAt>aGt	p.N303S		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	303	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity	p.N303S(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AGCAGCATCAATAAATCCGGG	0.418000													44	144					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963423	88963423	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr7:88963423G>T	ENST00000333190.4	+	4	1736	c.1127G>T	c.(1126-1128)aGt>aTt	p.S376I		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	376						intracellular	zinc ion binding	p.S376I(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TACAACCATAGTGATGCCAGG	0.388000										HNSCC(36;0.09)			13	15					5.50884e-06	6.23187e-06	1	1	0
PSG7	5676	broad.mit.edu	37	19	43430783	43430783	+	RNA	SNP	C	C	G			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr19:43430783C>G	ENST00000446844.3	-	0	884				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AGTTCTCACTCTTAGGTTCAC	0.483000													63	168					0	0	1	0	0
ENTPD7	57089	broad.mit.edu	37	10	101458472	101458472	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr10:101458472G>C	ENST00000370489.4	+	10	1370	c.1192G>C	c.(1192-1194)Gcc>Ccc	p.A398P		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	398						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity	p.A398P(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		CACCAGCCAGGCCTCACTCAA	0.512000													6	34					0	0	1	0	0
ZFP36L1	677	broad.mit.edu	37	14	69256784	69256784	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr14:69256784G>C	ENST00000439696.2	-	2	784	c.483C>G	c.(481-483)ttC>ttG	p.F161L	ZFP36L1_ENST00000336440.3_Missense_Mutation_p.F161L|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	161					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F161L(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CGATGGTGTGGAAGGTGCGGC	0.667000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	28					0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20489448	20489448	+	RNA	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr15:20489448G>A	ENST00000555186.1	+	0	436					NR_038836.1																						ATCACCAGTGGAAAACACAAC	0.413000													6	97					0	0	1	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118231353	118231353	+	Silent	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr10:118231353C>A	ENST00000369230.3	+	10	1280	c.1134C>A	c.(1132-1134)ggC>ggA	p.G378G		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	378	PLAT.				lipid catabolic process	extracellular region	triglyceride lipase activity	p.G378G(1)		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)		TTCGTGTAGGCGGGGCAGTTA	0.473000													24	53					3.7963e-18	5.1664e-18	1	1	0
TRIM51HP	440041	broad.mit.edu	37	11	55063064	55063064	+	RNA	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr11:55063064C>A	ENST00000526016.1	-	0	573					NR_038174.2																						TCCTCGCCCTCCTTTCACAGC	0.403000													7	19					0.248553	0.257074	1	1	0
PYROXD1	79912	broad.mit.edu	37	12	21590695	21590695	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr12:21590695G>A	ENST00000240651.9	+	1	85	c.31G>A	c.(31-33)Ggg>Agg	p.G11R	PYROXD1_ENST00000545178.1_Missense_Mutation_p.G11R	NM_024854.3	NP_079130.2	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	11							oxidoreductase activity	p.G11R(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						CCCGACGGCAGGGAAGTTCGT	0.672000													3	19					0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25158424	25158424	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr22:25158424G>A	ENST00000332271.5	-	2	459	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C	PIWIL3_ENST00000533313.1_5'UTR|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	15					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	p.R15C(2)		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						CTCTCCCTGCGGCGGGCTCTG	0.547000													28	42					0	0	1	0	0
ADAM23	8745	broad.mit.edu	37	2	207406809	207406809	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr2:207406809A>G	ENST00000264377.3	+	5	935	c.607A>G	c.(607-609)Aga>Gga	p.R203G	ADAM23_ENST00000374415.3_Missense_Mutation_p.R203G|ADAM23_ENST00000374416.1_Missense_Mutation_p.R203G	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	203					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.R203G(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TGGAAGCATCAGAGGCGTCAA	0.433000													15	80					0	0	1	0	0
UBA1	7317	broad.mit.edu	37	X	47062565	47062565	+	Silent	SNP	G	G	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chrX:47062565G>T	ENST00000335972.6	+	13	1554	c.1371G>T	c.(1369-1371)gtG>gtT	p.V457V	UBA1_ENST00000377351.4_Silent_p.V457V|UBA1_ENST00000490869.1_3'UTR	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	457	2 approximate repeats.				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity	p.V457V(1)		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						AAGTGGCTGTGTTTGGCTCAG	0.557000													24	16					5.45024e-15	7.30736e-15	1	1	0
PCDH11X	27328	broad.mit.edu	37	X	91133833	91133833	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chrX:91133833T>C	ENST00000373094.1	+	2	3439	c.2594T>C	c.(2593-2595)aTa>aCa	p.I865T	PCDH11X_ENST00000298274.8_Missense_Mutation_p.I865T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.I865T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.I865T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.I865T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.I865T|PCDH11X_ENST00000504220.1_Missense_Mutation_p.I865T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.I865T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.I865T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	865					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.I865T(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AGGCAGATGATAATGATgaag	0.413000													20	21					0	0	1	0	0
ZNF80	7634	broad.mit.edu	37	3	113955906	113955906	+	Missense_Mutation	SNP	C	C	T	rs150485238	byFrequency	TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr3:113955906C>T	ENST00000482457.2	-	1	519	c.16G>A	c.(16-18)Gat>Aat	p.D6N		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	6						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D6N(1)		NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				CCCAACCCATCGCGTTTAGGG	0.537000													59	23					0	0	1	0	0
GFPT2	9945	broad.mit.edu	37	5	179734220	179734220	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr5:179734220T>A	ENST00000253778.8	-	16	1799	c.1630A>T	c.(1630-1632)Atg>Ttg	p.M544L		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	544	SIS 2.				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.M544L(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-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)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CCCCGCCCCATCACCAGCAGC	0.642000													4	4					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922493	24922493	+	Silent	SNP	C	C	G			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr15:24922493C>G	ENST00000329468.2	+	1	1953	c.1479C>G	c.(1477-1479)ctC>ctG	p.L493L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.L493L(1)									CAGCGCCTCTCACTTCTGACC	0.532000													8	213					0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126219701	126219701	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr3:126219701C>T	ENST00000290868.2	-	11	1035	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	UROC1_ENST00000383579.3_Missense_Mutation_p.E388K	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	328					histidine catabolic process	cytosol	urocanate hydratase activity	p.E328K(1)|p.E388K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GTGTCCAATTCGTGGACCAGG	0.637000													32	14					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216063	20216063	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr14:20216063G>A	ENST00000331723.1	+	1	477	c.477G>A	c.(475-477)atG>atA	p.M159I		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M159I(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACTCTATCATGCAGGTCATAC	0.507000													7	49					0	0	1	0	0
NBPF20	100288142	broad.mit.edu	37	1	148252093	148252093	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr1:148252093C>A	ENST00000369202.1	-	111	13845	c.13648G>T	c.(13648-13650)Gaa>Taa	p.E4550*						neuroblastoma breakpoint family, member 20									p.E4550*(1)		breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						TCAGGCTCTTCCACTTCCATC	0.458000													28	163					3.6622e-26	5.09891e-26	1	1	0
ADCY10	55811	broad.mit.edu	37	1	167873176	167873176	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr1:167873176C>A	ENST00000367851.4	-	3	386	c.202G>T	c.(202-204)Gct>Tct	p.A68S	ADCY10_ENST00000367848.1_5'UTR|ADCY10_ENST00000545172.1_Intron	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	68	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	p.A68S(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AACTGCTCAGCCCCTCTGTCC	0.448000													3	47					1	1	1	1	0
ERAS	3266	broad.mit.edu	37	X	48687962	48687962	+	Silent	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chrX:48687962C>A	ENST00000338270.1	+	1	680	c.429C>A	c.(427-429)gcC>gcA	p.A143A		NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN	ES cell expressed Ras	143					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	p.A143A(1)		endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						CTCACCCCGCCCAGCCCCTTG	0.642000													3	32					1	1	1	1	0
CDH23	64072	broad.mit.edu	37	10	73569657	73569657	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr10:73569657C>T	ENST00000224721.6	+	60	8823	c.8818C>T	c.(8818-8820)Cga>Tga	p.R2940*	CDH23_ENST00000398788.3_Nonsense_Mutation_p.R695*|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2935	Cadherin 27.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.R2940*(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CATTGTGGCCCGAGACCTGGC	0.607000													18	78					0	0	1	0	0
RPL3L	6123	broad.mit.edu	37	16	1994859	1994859	+	Silent	SNP	C	C	T	rs140950130		TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr16:1994859C>T	ENST00000268661.7	-	10	1297	c.1203G>A	c.(1201-1203)ccG>ccA	p.P401P		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	401					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	p.P401P(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						CCGAGGTCTCCGGCGTTTCCT	0.607000													20	78					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			49	37					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	115200395	115200395	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr2:115200395C>T	ENST00000410059.1	+	1	520	c.40C>T	c.(40-42)Caa>Taa	p.Q14*		NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	14	Mediates effects on KCND2.				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	p.Q14*(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CATCAAGTGTCAACCCTCAAA	0.468000													8	21					0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84738738	84738738	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr10:84738738G>C	ENST00000372142.2	+	9	1056	c.782G>C	c.(781-783)aGa>aCa	p.R261T	NRG3_ENST00000372141.2_Missense_Mutation_p.R482T|NRG3_ENST00000556918.1_Missense_Mutation_p.R312T|NRG3_ENST00000545131.1_Missense_Mutation_p.R132T|NRG3_ENST00000404547.1_Missense_Mutation_p.R482T|NRG3_ENST00000537893.1_Missense_Mutation_p.R132T|NRG3_ENST00000404576.2_Missense_Mutation_p.R286T	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	482	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.R261T(1)|p.R482T(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CCAGGGCAAAGAAGTGGCATG	0.498000													4	21					0	0	1	0	0
FADD	8772	broad.mit.edu	37	11	70049737	70049737	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr11:70049737G>T	ENST00000301838.4	+	1	469	c.172G>T	c.(172-174)Ggg>Tgg	p.G58W		NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	Fas (TNFRSF6)-associated via death domain	58	DED.				activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction	cytosol	death receptor binding|identical protein binding	p.G58W(1)		endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CCTGGAGCCCGGGCACACCGA	0.731000													13	30					1.02788e-11	1.30103e-11	1	1	0
OR4L1	122742	broad.mit.edu	37	14	20529107	20529107	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr14:20529107C>T	ENST00000315683.1	+	1	904	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R302W(2)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AAGAAAATTACGGTTCCAATA	0.303000													11	30					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78811791	78811791	+	Silent	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr17:78811791G>A	ENST00000306801.3	+	10	1568	c.1206G>A	c.(1204-1206)gcG>gcA	p.A402A	RPTOR_ENST00000544334.2_Silent_p.A402A|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000537330.1_Silent_p.A217A	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	402					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	p.A402A(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						AAGGCACTGCGTTTCGGGTGA	0.627000													4	11					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21873432	21873432	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr14:21873432C>A	ENST00000399982.2	-	15	3307	c.3243G>T	c.(3241-3243)atG>atT	p.M1081I	CHD8_ENST00000557364.1_Missense_Mutation_p.M1081I|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.M802I	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1081					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	p.M1081I(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GTAGATTAGGCATGTTGGTAT	0.413000													7	8					1.12685e-05	1.26683e-05	1	1	0
CHCHD3	54927	broad.mit.edu	37	7	132481310	132481310	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr7:132481310C>A	ENST00000262570.5	-	7	697	c.553G>T	c.(553-555)Gat>Tat	p.D185Y	CHCHD3_ENST00000476546.1_5'UTR|CHCHD3_ENST00000448878.1_Missense_Mutation_p.D190Y	NM_017812.2	NP_060282.1	Q9NX63	CHCH3_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 3	185	CHCH.				inner mitochondrial membrane organization|mitochondrial fusion	mitochondrial inner membrane	protein complex scaffold	p.D185Y(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						GCCTGCAGATCAGCACAGACT	0.468000													6	37					0.0215528	0.0228132	1	1	0
INPP1	3628	broad.mit.edu	37	2	191235886	191235886	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr2:191235886G>T	ENST00000392329.2	+	7	1658	c.958G>T	c.(958-960)Gct>Tct	p.A320S	INPP1_ENST00000322522.4_Missense_Mutation_p.A320S|INPP1_ENST00000541441.1_Missense_Mutation_p.A320S	NM_001128928.1	NP_001122400.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	320					signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding	p.A320S(1)		cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		Lithium(DB01356)	CTCTTGTGCTGCTCATGCCAT	0.463000													22	35					6.44725e-10	7.99283e-10	1	1	0
PKHD1	5314	broad.mit.edu	37	6	51732854	51732854	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr6:51732854C>G	ENST00000371117.3	-	48	7815	c.7540G>C	c.(7540-7542)Gtg>Ctg	p.V2514L	PKHD1_ENST00000340994.4_Missense_Mutation_p.V2514L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2514					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.V2514L(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGAAATGCCACTAAGTTTGAA	0.388000													9	23					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179449635	179449635	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr2:179449635G>A	ENST00000589042.1	-	310	64957	c.64733C>T	c.(64732-64734)tCc>tTc	p.S21578F	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S12705F|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S19010F|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S12638F|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S19937F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S12513F|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19937	Fibronectin type-III 56.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S12513F(1)|p.S19010F(1)|p.S19008F(1)|p.S12638F(1)|p.S12705F(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)			CCATGACAGGGAGCAAGCATC	0.498000													20	69					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66192248	66192248	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr11:66192248G>T	ENST00000311034.2	+	7	2063	c.1887G>T	c.(1885-1887)caG>caT	p.Q629H		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	629					transcription, DNA-dependent		DNA binding|signal transducer activity	p.Q629H(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						AAAAGGAGCAGAATGAGATAG	0.572000													54	67					2.76378e-25	3.81866e-25	1	1	0
MCHR2	84539	broad.mit.edu	37	6	100395747	100395747	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr6:100395747G>A	ENST00000281806.2	-	3	597	c.283C>T	c.(283-285)Cga>Tga	p.R95*	MCHR2_ENST00000445970.1_Nonsense_Mutation_p.R95*|MCHR2_ENST00000369212.1_Nonsense_Mutation_p.R95*	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	95						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R95*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TCTCCCCCTCGGGCCCATTGG	0.488000													40	67					0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7607476	7607476	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr19:7607476G>A	ENST00000221249.6	+	14	1596	c.1165G>A	c.(1165-1167)Gac>Aac	p.D389N	PNPLA6_ENST00000600737.1_Missense_Mutation_p.D428N|PNPLA6_ENST00000545201.2_Missense_Mutation_p.D389N|PNPLA6_ENST00000450331.3_Missense_Mutation_p.D389N|PNPLA6_ENST00000414982.3_Missense_Mutation_p.D437N	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	428					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	p.D389N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CTCCGACTTCGACATGGCCTA	0.612000													13	21					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45695955	45695955	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr5:45695955A>T	ENST00000303230.4	-	1	298	c.241T>A	c.(241-243)Ttc>Atc	p.F81I		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	81						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.F81I(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						GCGTCTTCGAAGCCCCCCGCC	0.716000													4	15					0	0	1	0	0
PHF19	26147	broad.mit.edu	37	9	123632765	123632765	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr9:123632765G>A	ENST00000373896.3	-	4	572	c.320C>T	c.(319-321)tCa>tTa	p.S107L	PHF19_ENST00000312189.6_Missense_Mutation_p.S107L	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.S107L(2)		NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGCGGCCCTGATGTCTTCCC	0.612000													6	116					0	0	1	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76075401	76075401	+	RNA	SNP	A	A	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr15:76075401A>C	ENST00000395215.3	+	0	1041																											CTGTGTGAGCAAAATGAGAGG	0.602000													39	80					0	0	1	0	0
DPYSL4	10570	broad.mit.edu	37	10	134015457	134015457	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr10:134015457G>A	ENST00000338492.4	+	11	1282	c.1118G>A	c.(1117-1119)gGg>gAg	p.G373E	DPYSL4_ENST00000368627.1_Missense_Mutation_p.G273E|DPYSL4_ENST00000368629.1_Missense_Mutation_p.G273E	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	373					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.G373E(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CAGGCCTCTGGGAAGATGGAC	0.592000													7	43					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170030461	170030461	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr2:170030461C>G	ENST00000263816.3	-	56	11267	c.10982G>C	c.(10981-10983)gGa>gCa	p.G3661A		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3661	LDL-receptor class A 29.				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	p.G3661A(1)		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)	CGAGTGGTCTCCACAATCATT	0.577000													21	51					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51171060	51171060	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr16:51171060C>A	ENST00000440970.1	-	3	4078	c.3647G>T	c.(3646-3648)cGc>cTc	p.R1216L	SALL1_ENST00000251020.4_Missense_Mutation_p.R1313L|SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000541611.1_Missense_Mutation_p.R136L	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1313					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R1313L(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CTCCACGAAGCGGGTGAAGCG	0.562000													15	19					1.00905e-13	1.33312e-13	1	1	0
NRXN3	9369	broad.mit.edu	37	14	79433607	79433607	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr14:79433607G>A	ENST00000554719.1	+	10	2206	c.1715G>A	c.(1714-1716)aGt>aAt	p.S572N	NRXN3_ENST00000335750.5_Missense_Mutation_p.S572N	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	164					angiogenesis|cell adhesion	integral to membrane		p.S572N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AAAGGCAACAGTGACCGCCCC	0.438000													13	13					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24533250	24533250	+	Splice_Site	SNP	C	C	T	rs75937204		TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr2:24533250C>T	ENST00000355123.4	-	7	1000		c.e7-1		ITSN2_ENST00000406921.3_Splice_Site|ITSN2_ENST00000361999.3_Splice_Site	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2						endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	p.?(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAGGCAATGCTAAAAAAGAA	0.338000													44	159					0	0	1	0	0
RUFY1	80230	broad.mit.edu	37	5	179020526	179020526	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr5:179020526G>A	ENST00000319449.4	+	11	1305	c.1293G>A	c.(1291-1293)atG>atA	p.M431I	RUFY1_ENST00000437570.2_Missense_Mutation_p.M323I|RUFY1_ENST00000393438.2_Missense_Mutation_p.M323I|RUFY1_ENST00000377001.2_3'UTR	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	431					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	p.M323I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAACCGAAATGGAAATTGCAA	0.378000										HNSCC(44;0.11)			13	15					0	0	1	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55063065	55063065	+	RNA	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr11:55063065C>A	ENST00000526016.1	-	0	572					NR_038174.2																						CCTCGCCCTCCTTTCACAGCC	0.398000													7	19					0.248553	0.257074	1	1	0
CTNNA2	1496	broad.mit.edu	37	2	80646672	80646672	+	Silent	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr2:80646672G>A	ENST00000466387.1	+	13	1960	c.1236G>A	c.(1234-1236)aaG>aaA	p.K412K	CTNNA2_ENST00000541047.1_Silent_p.K412K|CTNNA2_ENST00000361291.4_Silent_p.K446K|CTNNA2_ENST00000496558.1_Silent_p.K412K|CTNNA2_ENST00000343114.3_Silent_p.K91K|CTNNA2_ENST00000540488.1_Silent_p.K412K|CTNNA2_ENST00000402739.4_Silent_p.K412K			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	412					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.E413*(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GAAATGAAAAGGAAGTGAAAG	0.453000													12	50					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89948210	89948210	+	Missense_Mutation	SNP	A	A	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr5:89948210A>C	ENST00000405460.2	+	19	3560	c.3464A>C	c.(3463-3465)cAg>cCg	p.Q1155P		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1155					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	p.Q1155P(1)		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)		GTATCTTGGCAGCTCTTTCAG	0.368000													38	66					0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160636571	160636571	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr2:160636571C>T	ENST00000504764.1	-	37	5364	c.5337G>A	c.(5335-5337)tgG>tgA	p.W1779*	CD302_ENST00000429078.2_Intron|CD302_ENST00000480212.1_5'UTR|LY75_ENST00000554112.1_Nonsense_Mutation_p.W1779*|LY75-CD302_ENST00000505052.1_Nonsense_Mutation_p.W1723*|LY75_ENST00000553424.1_Nonsense_Mutation_p.W1723*|CD302_ENST00000259053.4_Nonsense_Mutation_p.W138*	NM_001198759.1	NP_001185688.1	O60449	LY75_HUMAN		1645					endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	p.W138*(1)									TTCCTTTTTTCCATTCACCTG	0.383000													19	45					0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30033077	30033077	+	Silent	SNP	G	G	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr11:30033077G>T	ENST00000328224.6	-	2	2382	c.1149C>A	c.(1147-1149)tcC>tcA	p.S383S		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	383						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.S383S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CAAACTCAAAGGAAAACCATA	0.423000													24	41					1.10923e-09	1.36579e-09	1	1	0
MUC16	94025	broad.mit.edu	37	19	9048804	9048804	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr19:9048804C>A	ENST00000397910.4	-	5	33030	c.32827G>T	c.(32827-32829)Gca>Tca	p.A10943S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10945	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A10943S(1)|p.A6576S(1)		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						CTAGTCACTGCCCTAGAACTA	0.512000													27	70					1.04121e-07	1.21587e-07	1	1	0
HEPH	9843	broad.mit.edu	37	X	65475972	65475972	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chrX:65475972C>A	ENST00000519389.1	+	17	3037	c.2858C>A	c.(2857-2859)cCc>cAc	p.P953H	HEPH_ENST00000441993.2_Missense_Mutation_p.P902H|HEPH_ENST00000343002.2_Missense_Mutation_p.P899H|HEPH_ENST00000336279.5_Missense_Mutation_p.P632H|HEPH_ENST00000419594.1_Missense_Mutation_p.P710H|HEPH_ENST00000374727.3_Missense_Mutation_p.P902H			Q9BQS7	HEPH_HUMAN	hephaestin	899	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.P899H(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CTGGTGGGGCCCTTGGCTATC	0.512000													14	10					4.7546e-09	5.73722e-09	1	1	0
LEPR	3953	broad.mit.edu	37	1	66102281	66102281	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr1:66102281C>A	ENST00000349533.6	+	20	3266	c.3081C>A	c.(3079-3081)agC>agA	p.S1027R	LEPR_ENST00000406510.3_Missense_Mutation_p.S94R	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	1027					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	p.S1027R(1)		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)		TCTCTAATAGCTCATGGGAGA	0.393000													34	53					2.68265e-12	3.44369e-12	1	1	0
ABCA4	24	broad.mit.edu	37	1	94544956	94544956	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr1:94544956C>A	ENST00000370225.3	-	9	1247	c.1161G>T	c.(1159-1161)tgG>tgT	p.W387C	ABCA4_ENST00000535735.1_Missense_Mutation_p.W387C	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	387					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.W387C(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTGCCGCCCTCCAAGCGATTT	0.483000													3	45					1	1	1	1	0
SLC25A24	29957	broad.mit.edu	37	1	108700189	108700189	+	Silent	SNP	T	T	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr1:108700189T>C	ENST00000565488.1	-	5	783	c.564A>G	c.(562-564)gaA>gaG	p.E188E	SLC25A24_ENST00000370041.4_Silent_p.E169E	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	188					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	p.E188E(1)|p.E169E(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		CGGATTTTTTTTCGTCTTCCG	0.433000													31	24					0	0	1	0	0
WDR43	23160	broad.mit.edu	37	2	29150465	29150465	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr2:29150465A>G	ENST00000407426.3	+	10	1260	c.1204A>G	c.(1204-1206)Aaa>Gaa	p.K402E		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	402						nucleolus		p.K445E(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					TTCTGAAGCAAAAGTTCTGGT	0.463000													9	17					0	0	1	0	0
LRRC8E	80131	broad.mit.edu	37	19	7964661	7964661	+	Silent	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr19:7964661G>A	ENST00000539278.1	-	1	3766	c.606C>T	c.(604-606)agC>agT	p.S202S	LRRC8E_ENST00000306708.6_Silent_p.R418R														p.R418R(1)									CCGCGGGCCGGCTGGAGCTGG	0.617000													17	25					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141734499	141734499	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr7:141734499G>C	ENST00000475668.2	+	16	1871	c.1817G>C	c.(1816-1818)aGa>aCa	p.R606T	MGAM_ENST00000549489.2_Missense_Mutation_p.R606T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	606	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.R606T(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCTAATAAGAGAAGCTTCATT	0.502000													21	22					0	0	1	0	0
FOXR2	139628	broad.mit.edu	37	X	55650322	55650322	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chrX:55650322C>A	ENST00000339140.3	+	1	490	c.178C>A	c.(178-180)Cct>Act	p.P60T		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	60					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA 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	p.P60T(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						CCCAGAAATGCCTCAGAAGAG	0.522000													15	14					2.31682e-05	2.57267e-05	1	1	0
TAF1L	138474	broad.mit.edu	37	9	32635526	32635526	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr9:32635526C>A	ENST00000242310.4	-	1	141	c.52G>T	c.(52-54)Gcc>Tcc	p.A18S	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	18					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.A18S(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GACATGATGGCGGCAGTGACG	0.552000													29	26					5.45727e-16	7.37139e-16	1	1	0
NPAS4	266743	broad.mit.edu	37	11	66189682	66189682	+	Silent	SNP	A	A	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr11:66189682A>C	ENST00000311034.2	+	2	443	c.267A>C	c.(265-267)acA>acC	p.T89T		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	89	PAS 1.				transcription, DNA-dependent		DNA binding|signal transducer activity	p.T89T(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TTGTGTTCACAGCCGAGGGGA	0.597000													15	16					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197071942	197071942	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr1:197071942G>T	ENST00000367409.4	-	18	6695	c.6439C>A	c.(6439-6441)Caa>Aaa	p.Q2147K	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2147	IQ 17.				mitosis	cytoplasm|nucleus	calmodulin binding	p.Q2147K(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CATCTTACTTGAATAACAATA	0.358000													42	66					9.85913e-13	1.27464e-12	1	1	0
GAL3ST2	64090	broad.mit.edu	37	2	242742902	242742902	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr2:242742902C>T	ENST00000192314.6	+	4	649	c.518C>T	c.(517-519)tCg>tTg	p.S173L		NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	173					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	p.S173L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TTCCTGGCCTCGCCGCGGACG	0.632000													6	18					0	0	1	0	0
ACTRT3	84517	broad.mit.edu	37	3	169487268	169487268	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr3:169487268G>C	ENST00000330368.2	-	1	415	c.41C>G	c.(40-42)tCg>tGg	p.S14W		NM_032487.4	NP_115876.3	Q9BYD9	ARPM1_HUMAN	actin-related protein T3	14						cytoplasm|cytoskeleton		p.S14W(1)									GATCATTCCCGAGCCGTTGTC	0.692000													20	73					0	0	1	0	0
KRT7	3855	broad.mit.edu	37	12	52627141	52627141	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr12:52627141G>A	ENST00000331817.5	+	1	244	c.61G>A	c.(61-63)Ggc>Agc	p.G21S		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	21	Head.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity	p.G21S(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		CTCGGGCCGCGGCGCCCAGGT	0.746000													8	9					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15689005	15689005	+	Silent	SNP	T	T	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr10:15689005T>C	ENST00000378076.3	-	12	1400	c.1047A>G	c.(1045-1047)gaA>gaG	p.E349E		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	349					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.E349E(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						TGCTCTCAAATTCACGTTCCA	0.502000													20	42					0	0	1	0	0
PPP3CA	5530	broad.mit.edu	37	4	101947155	101947155	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr4:101947155C>A	ENST00000394854.3	-	14	2116	c.1433G>T	c.(1432-1434)cGa>cTa	p.R478L	PPP3CA_ENST00000323055.6_Missense_Mutation_p.R426L|PPP3CA_ENST00000523694.2_Missense_Mutation_p.R411L|PPP3CA_ENST00000512215.1_Missense_Mutation_p.R246L|PPP3CA_ENST00000394853.4_Missense_Mutation_p.R468L|PPP3CA_ENST00000507176.1_Missense_Mutation_p.R380L	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	478	Inhibitory domain.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding	p.R478L(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		CTCATTAATTCGGTCTAAGCC	0.458000													3	76					1	1	1	1	0
ZNF662	389114	broad.mit.edu	37	3	42956829	42956829	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr3:42956829C>T	ENST00000541208.1	+	5	1633	c.1264C>T	c.(1264-1266)Cac>Tac	p.H422Y	ZNF662_ENST00000328199.6_Missense_Mutation_p.H448Y|ZNF662_ENST00000440367.2_Missense_Mutation_p.H422Y|ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H448Y(1)|p.H422Y(1)		breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TCAGATCTCTCACCTTCTTGA	0.398000													10	22					0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197444857	197444857	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr3:197444857G>C	ENST00000273582.5	-	2	575	c.30C>G	c.(28-30)atC>atG	p.I10M	KIAA0226_ENST00000296343.5_Missense_Mutation_p.I70M|KIAA0226_ENST00000467303.1_Intron|KIAA0226_ENST00000449205.1_Missense_Mutation_p.I70M|KIAA0226_ENST00000389665.5_Missense_Mutation_p.I70M	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	70					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	p.I10M(1)|p.I70M(1)		NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CCTGGTCACGGATAAGCCCGT	0.517000													14	82					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66191054	66191054	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr11:66191054G>C	ENST00000311034.2	+	6	990	c.814G>C	c.(814-816)Gag>Cag	p.E272Q		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	272	PAS 2.				transcription, DNA-dependent		DNA binding|signal transducer activity	p.E272Q(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCCAGTGGCTGAGAGTGGAGA	0.527000													19	37					0	0	1	0	0
ZMYM5	9205	broad.mit.edu	37	13	20411849	20411849	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr13:20411849T>A	ENST00000337963.4	-	6	1249	c.985A>T	c.(985-987)Aaa>Taa	p.K329*	ZMYM5_ENST00000382907.4_3'UTR|ZMYM5_ENST00000382905.4_Nonsense_Mutation_p.K329*	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	329						nucleus	zinc ion binding	p.K329*(2)		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)		ACTCCTTTTTTAAGATTCCAG	0.318000													14	30					0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147114065	147114065	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr3:147114065C>A	ENST00000383075.3	-	3	774	c.262G>T	c.(262-264)Gcc>Tcc	p.A88S	ZIC4_ENST00000525172.2_Missense_Mutation_p.A138S|ZIC4_ENST00000425731.3_Missense_Mutation_p.A126S|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000484399.1_Missense_Mutation_p.A88S|ZIC4_ENST00000473123.1_Missense_Mutation_p.A88S	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	88	Poly-Ala.					nucleus	DNA binding|zinc ion binding	p.A88S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GCTGCCAGGGCGTCGCTGCGG	0.701000													6	6					3.59834e-05	3.97133e-05	1	1	0
PIK3C2A	5286	broad.mit.edu	37	11	17124380	17124380	+	Splice_Site	SNP	T	T	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr11:17124380T>A	ENST00000265970.7	-	23	3681		c.e23-2		PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Splice_Site	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha						cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.?(1)		central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	CTCTGAAGCCTATAAAAAACA	0.308000													10	33					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177077246	177077246	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr4:177077246C>A	ENST00000393643.2	+	18	2729	c.2477C>A	c.(2476-2478)tCa>tAa	p.S826*	WDR17_ENST00000507824.2_Nonsense_Mutation_p.S833*|WDR17_ENST00000508596.1_Nonsense_Mutation_p.S826*|WDR17_ENST00000280190.4_Nonsense_Mutation_p.S850*	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	850								p.S850*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AAAGCCCTGTCAATTGCACCA	0.378000													18	36					4.35082e-09	5.28522e-09	1	1	0
KLHL1	57626	broad.mit.edu	37	13	70371027	70371027	+	Silent	SNP	G	G	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr13:70371027G>T	ENST00000377844.4	-	7	2241	c.1482C>A	c.(1480-1482)ggC>ggA	p.G494G	KLHL1_ENST00000545028.1_Silent_p.G301G	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	494					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.G494G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GCAGCCTTCTGCCATTCATCA	0.383000													11	89					0.000978159	0.00106016	1	1	0
NAALAD2	10003	broad.mit.edu	37	11	89891357	89891357	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr11:89891357C>T	ENST00000534061.1	+	7	1071	c.841C>T	c.(841-843)Cga>Tga	p.R281*	NAALAD2_ENST00000321955.4_Nonsense_Mutation_p.R281*|NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000525171.1_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	281	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	p.R281*(2)|p.R281R(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GGGAATCCCCCGAATACCTGT	0.313000													34	76					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34174788	34174788	+	Silent	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr18:34174788C>A	ENST00000257209.4	+	7	767	c.645C>A	c.(643-645)ctC>ctA	p.L215L	FHOD3_ENST00000445677.1_Silent_p.L215L|FHOD3_ENST00000359247.4_Silent_p.L215L|FHOD3_ENST00000591635.1_5'UTR|FHOD3_ENST00000590592.1_Silent_p.L215L	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	215	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.L215L(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AGCTGCTGCTCGTCTTTGTAG	0.532000													17	22					1.67942e-08	2.00738e-08	1	1	0
CPSF1	29894	broad.mit.edu	37	8	145622980	145622980	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr8:145622980C>T	ENST00000349769.3	-	21	2282	c.2188G>A	c.(2188-2190)Gag>Aag	p.E730K		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	730					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	p.E730K(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CCCAGGCCCTCGGCCTCCGGG	0.716000													8	27					0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18329147	18329147	+	Silent	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr19:18329147G>A	ENST00000355502.3	-	14	2098	c.1227C>T	c.(1225-1227)ctC>ctT	p.L409L	PDE4C_ENST00000594617.2_Silent_p.L409L|PDE4C_ENST00000262805.11_Silent_p.L377L|PDE4C_ENST00000447275.2_Silent_p.L303L|PDE4C_ENST00000539010.1_Silent_p.L178L|PDE4C_ENST00000594465.2_Silent_p.L409L|AC068499.10_ENST00000594805.2_RNA			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	409					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.L409L(1)		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)	GCAGTACCTCGAGGGCGGGCG	0.662000													33	64					0	0	1	0	0
PTPN6	5777	broad.mit.edu	37	12	7066919	7066919	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr12:7066919C>T	ENST00000456013.1	+	10	1419	c.1177C>T	c.(1177-1179)Cgt>Tgt	p.R393C	PTPN6_ENST00000447931.2_Missense_Mutation_p.R354C|PTPN6_ENST00000399448.1_Missense_Mutation_p.R395C|PTPN6_ENST00000318974.9_Missense_Mutation_p.R393C	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	393	Tyrosine-protein phosphatase.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|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|membrane|nucleus	protein binding|protein tyrosine phosphatase activity	p.R393C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						ATACAAACTCCGTACCTTACA	0.602000													8	67					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr17:45128812C>T	ENST00000575173.1	-	0	418																											AGTCCTGTTTCTGTGTGGATT	0.373000													3	29					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52861875	52861875	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr4:52861875G>A	ENST00000343457.3	-	4	1319	c.1313C>T	c.(1312-1314)cCa>cTa	p.P438L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	438						integral to membrane		p.P438Q(1)|p.P438L(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ATGGGTCTCTGGGTGTGGTGT	0.547000													21	50					0	0	1	0	0
TAP2	6891	broad.mit.edu	37	6	32797214	32797214	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr6:32797214T>C	ENST00000374897.2	-	11	2026	c.1895A>G	c.(1894-1896)gAg>gGg	p.E632G	TAP2_ENST00000452392.2_Missense_Mutation_p.E632G|TAP2_ENST00000374899.4_Missense_Mutation_p.E632G	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	632	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	p.E632G(2)									ACTAGTAGCCTCATCCAGGAT	0.637000													3	10					0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30053374	30053374	+	Silent	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr15:30053374G>A	ENST00000346128.6	-	8	1452	c.978C>T	c.(976-978)tcC>tcT	p.S326S	TJP1_ENST00000400011.2_Silent_p.S330S|TJP1_ENST00000545208.2_Silent_p.S326S|TJP1_ENST00000495972.2_Silent_p.S326S|TJP1_ENST00000356107.6_Silent_p.S326S	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	326					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		p.S326S(1)		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)		GCGAGTGCCTGGAATGATCAG	0.507000													15	42					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11750922	11750922	+	Silent	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr2:11750922G>A	ENST00000381486.2	+	18	3075	c.2775G>A	c.(2773-2775)tcG>tcA	p.S925S	GREB1_ENST00000234142.5_Silent_p.S925S	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	925						integral to membrane		p.S925S(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACTACACGTCGGTGGAGACGC	0.657000													18	54					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54825227	54825227	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr15:54825227A>G	ENST00000545554.1	+	25	5659	c.5659A>G	c.(5659-5661)Att>Gtt	p.I1887V	UNC13C_ENST00000537900.1_Missense_Mutation_p.I1885V|UNC13C_ENST00000260323.11_Missense_Mutation_p.I1887V			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1887	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.I1887V(2)		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)		GGATGCAGAGATTGTGTTAAG	0.333000													2	8					0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227663232	227663232	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr2:227663232G>A	ENST00000305123.4	-	1	1243	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	75	Mediates interaction with PHIP (By similarity).|PH.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.R75W(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GAGTCAGCCCGCTTGTTGATG	0.612000													28	142					0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185968	127185968	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chrX:127185968G>T	ENST00000371124.3	-	1	414	c.218C>A	c.(217-219)cCc>cAc	p.P73H		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	73						cytoplasm|cytoskeleton		p.P73H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						ACGCTCAATGGGGTAGTGCAA	0.473000													60	52					1.14385e-22	1.56847e-22	1	1	0
XYLT1	64131	broad.mit.edu	37	16	17232349	17232349	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr16:17232349C>T	ENST00000261381.6	-	8	1711	c.1627G>A	c.(1627-1629)Gac>Aac	p.D543N	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	543					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.D543N(2)		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						ACCATGGTGTCGCAGTGGGGG	0.612000													16	28					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5237117	5237117	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr5:5237117G>T	ENST00000274181.7	+	14	2197	c.2059G>T	c.(2059-2061)Gga>Tga	p.G687*	ADAMTS16_ENST00000513709.1_Intron	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	687	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G687*(2)		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						TATCGCAGAAGGATTTGATTT	0.348000													23	84					1.66031e-10	2.07252e-10	1	1	0
LDB3	11155	broad.mit.edu	37	10	88441312	88441312	+	Silent	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr10:88441312C>T	ENST00000429277.2	+	5	586	c.441C>T	c.(439-441)tcC>tcT	p.S147S	LDB3_ENST00000310944.6_Silent_p.S147S|LDB3_ENST00000542786.1_Silent_p.S147S|LDB3_ENST00000372056.4_Silent_p.S147S|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000361373.4_Silent_p.S147S|LDB3_ENST00000263066.6_Intron|LDB3_ENST00000372066.3_Intron	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	147						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	p.S147S(3)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CTGCCTTCTCCCGGCCCTCCG	0.741000													9	31					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		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)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								3	28					0	0	1	0	0
FAM114A2	10827	broad.mit.edu	37	5	153382469	153382469	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr5:153382469C>T	ENST00000351797.4	-	10	1130	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K	FAM114A2_ENST00000522858.1_Missense_Mutation_p.E352K|FAM114A2_ENST00000520667.1_Missense_Mutation_p.E352K|FAM114A2_ENST00000520313.1_Missense_Mutation_p.E282K	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	352							purine nucleotide binding	p.E352K(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						TCTCCTTCTTCATTCTCTGCT	0.378000													36	79					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22369133	22369133	+	Silent	SNP	G	G	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr15:22369133G>T	ENST00000332663.2	+	1	656	c.558G>T	c.(556-558)cgG>cgT	p.R186R	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R186R(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		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)		AGGTTGTCCGGATTGCCTGTG	0.458000													29	370					1.67305e-13	2.19436e-13	1	1	0
MAPK8IP3	23162	broad.mit.edu	37	16	1818265	1818265	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr16:1818265G>A	ENST00000250894.4	+	30	3782	c.3625G>A	c.(3625-3627)Gat>Aat	p.D1209N	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.D1203N	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1209					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	p.D1215N(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CGTGTATGGCGATGACAGCAG	0.642000													37	61					0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19677462	19677462	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr20:19677462C>A	ENST00000328041.6	+	14	1710	c.1513C>A	c.(1513-1515)Ctg>Atg	p.L505M		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	505						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.L505M(1)		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						TGGTTACACCCTGGGGATTCC	0.572000													13	32					2.23348e-06	2.57491e-06	1	1	0
IL22RA1	58985	broad.mit.edu	37	1	24447964	24447964	+	Silent	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr1:24447964G>A	ENST00000270800.1	-	7	1094	c.1056C>T	c.(1054-1056)gcC>gcT	p.A352A		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	352						integral to membrane	interferon receptor activity	p.A352A(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		CAGCGTTTGGGGCATAGGACA	0.607000													11	38					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164735446	164735446	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr3:164735446C>A	ENST00000264382.3	-	31	3711	c.3649G>T	c.(3649-3651)Gtc>Ttc	p.V1217F		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1217	Sucrase.				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	p.V1217F(1)		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)	GCTGGCATGACTGGATGGCCA	0.323000										HNSCC(35;0.089)			8	36					0.000157383	0.000171605	1	1	0
OLFM4	10562	broad.mit.edu	37	13	53617300	53617300	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr13:53617300G>T	ENST00000219022.2	+	4	709	c.631G>T	c.(631-633)Gcc>Tcc	p.A211S		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	211					cell adhesion	extracellular space		p.A211S(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		CAATGTCCTTGCCATTCGCCG	0.438000													22	29					1.50039e-11	1.88591e-11	1	1	0
CPD	1362	broad.mit.edu	37	17	28791658	28791658	+	Silent	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr17:28791658C>T	ENST00000225719.4	+	21	4045	c.3969C>T	c.(3967-3969)tgC>tgT	p.C1323C	CPD_ENST00000543464.2_Silent_p.C1076C	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	1323					proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	p.C1323C(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GGTGCATCTGCTCAATCAAGT	0.413000													38	129					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3294567	3294567	+	Silent	SNP	A	A	G			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr16:3294567A>G	ENST00000219596.1	-	7	1671	c.1632T>C	c.(1630-1632)ccT>ccC	p.P544P	MEFV_ENST00000541159.1_Silent_p.P333P|MEFV_ENST00000536379.1_Silent_p.P333P|MEFV_ENST00000339854.4_Silent_p.P364P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	544					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	p.P333P(1)|p.P544P(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	TCCACTTTTCAGGGACAGGCA	0.498000													3	46					0	0	1	0	0
SOX9	6662	broad.mit.edu	37	17	70117755	70117755	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr17:70117755G>A	ENST00000245479.2	+	1	595	c.223G>A	c.(223-225)Gag>Aag	p.E75K		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	75					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	p.E75K(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			GTGCATCCGCGAGGCGGTCAG	0.652000													4	7					0	0	1	0	0
STRA8	346673	broad.mit.edu	37	7	134939900	134939900	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr7:134939900G>C	ENST00000275764.3	+	8	841	c.841G>C	c.(841-843)Gag>Cag	p.E281Q		NM_182489.1	NP_872295.1	Q7Z7C7	STRA8_HUMAN	stimulated by retinoic acid 8	281					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus		p.E281Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						AGAAAACCCAGAGGAGAAGTT	0.453000													14	100					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296674	39296674	+	Silent	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr17:39296674G>A	ENST00000345847.4	-	1	65	c.66C>T	c.(64-66)cgC>cgT	p.R22R		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	22	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGCAGCTGGGGCGGCAGCAGG	0.632000													4	58					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103540213	103540213	+	Silent	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr1:103540213C>T	ENST00000358392.2	-	4	929	c.612G>A	c.(610-612)acG>acA	p.T204T	COL11A1_ENST00000512756.1_Silent_p.T204T|COL11A1_ENST00000353414.4_Silent_p.T204T|COL11A1_ENST00000370096.3_Silent_p.T204T	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	204	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.T204T(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTCCAAAAACCGTGATTCCAT	0.348000													13	29					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137151674	137151674	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr7:137151674G>A	ENST00000453654.1	-	26	2151	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	DGKI_ENST00000288490.5_Intron|DGKI_ENST00000424189.2_Missense_Mutation_p.R841C|DGKI_ENST00000446122.1_Intron			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	832					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						CGATAAAAGCGATCAGCAGAA	0.383000													5	32					0	0	1	0	0
PHF19	26147	broad.mit.edu	37	9	123626344	123626344	+	Silent	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr9:123626344C>T	ENST00000373896.3	-	10	1203	c.951G>A	c.(949-951)ctG>ctA	p.L317L	PHF19_ENST00000487555.1_5'UTR|PHF19_ENST00000419155.1_Silent_p.L108L	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.L317L(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TATAACTGTTCAGAGCGTTGA	0.577000													13	13					0	0	1	0	0
NAA16	79612	broad.mit.edu	37	13	41894957	41894957	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr13:41894957C>A	ENST00000379406.3	+	4	723	c.399C>A	c.(397-399)taC>taA	p.Y133*	NAA16_ENST00000379367.3_Nonsense_Mutation_p.Y133*|NAA16_ENST00000403412.3_Nonsense_Mutation_p.Y133*	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	133					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	p.Y133*(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TTGAAGGTTACCGAGTAAGTA	0.353000													11	18					5.50884e-06	6.23187e-06	1	1	0
IGKV1-16	28938	broad.mit.edu	37	2	89399370	89399370	+	RNA	SNP	T	T	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr2:89399370T>C	ENST00000479981.1	-	0	359																											TATTATACTGTTGGCAGTAAT	0.517000													35	72					0	0	1	0	0
ZSCAN9	7746	broad.mit.edu	37	6	28194989	28194989	+	Missense_Mutation	SNP	A	A	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr6:28194989A>C	ENST00000527436.1	+	2	228	c.127A>C	c.(127-129)Agt>Cgt	p.S43R	ZSCAN9_ENST00000531979.1_Missense_Mutation_p.S43R|ZSCAN9_ENST00000252207.5_Missense_Mutation_p.S43R|ZSCAN9_ENST00000425468.2_Missense_Mutation_p.S43R|ZSCAN9_ENST00000531981.1_Missense_Mutation_p.S43R					zinc finger and SCAN domain containing 9									p.S43R(1)									ACTGAAACGCAGTAATCCACT	0.507000													10	19					0	0	1	0	0
GOLGA8EP	390535	broad.mit.edu	37	15	23445513	23445513	+	RNA	SNP	A	A	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr15:23445513A>T	ENST00000526079.1	+	0	2333					NR_027407.1|NR_033350.1																						AAAGAAACAAAGTTATGGGGT	0.338000													4	78					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20568974	20568974	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr4:20568974G>T	ENST00000504154.1	+	27	3067	c.2815G>T	c.(2815-2817)Gac>Tac	p.D939Y	SLIT2_ENST00000503823.1_Missense_Mutation_p.D931Y|SLIT2_ENST00000273739.5_Missense_Mutation_p.D943Y|SLIT2_ENST00000503837.1_Missense_Mutation_p.D935Y	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	939	EGF-like 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	p.D939Y(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGATCCAGTTGACTTTTACCG	0.378000													39	83					2.59497e-14	3.4536e-14	1	1	0
HEATR6	63897	broad.mit.edu	37	17	58127025	58127025	+	Silent	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr17:58127025C>T	ENST00000184956.6	-	16	2479	c.2463G>A	c.(2461-2463)ggG>ggA	p.G821G	HEATR6_ENST00000585976.1_Silent_p.G709G	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	821							binding	p.G821G(1)		NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TGTCATTCAGCCCGAGCAGCA	0.483000													12	27					0	0	1	0	0
PCOLCE	5118	broad.mit.edu	37	7	100201147	100201147	+	Missense_Mutation	SNP	A	A	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr7:100201147A>T	ENST00000223061.5	+	2	470	c.190A>T	c.(190-192)Atc>Ttc	p.I64F	PCOLCE-AS1_ENST00000446022.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE_ENST00000496269.1_3'UTR	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	64	CUB 1.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	p.I64F(1)		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)					TAAGGAGTGCATCTGGACCAT	0.592000													17	11					0	0	1	0	0
SKI	6497	broad.mit.edu	37	1	2234506	2234506	+	Silent	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr1:2234506C>T	ENST00000378536.4	+	2	1131	c.1059C>T	c.(1057-1059)tcC>tcT	p.S353S	SKI_ENST00000478223.2_3'UTR	NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	v-ski avian sarcoma viral oncogene homolog	353					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S353S(1)		central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		ACAAGCCGTCCAGCTGGCTGC	0.622000													23	39					0	0	1	0	0
HSPA12A	259217	broad.mit.edu	37	10	118451919	118451919	+	Silent	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr10:118451919C>T	ENST00000369209.3	-	6	710	c.606G>A	c.(604-606)acG>acA	p.T202T		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	202							ATP binding	p.T823T(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TGGCAGGCACCGTGATGACCC	0.582000													38	110					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113657409	113657409	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr8:113657409G>T	ENST00000297405.5	-	20	3483	c.3239C>A	c.(3238-3240)tCa>tAa	p.S1080*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S1080*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S1040*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S976*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1080	CUB 6.					integral to membrane|plasma membrane		p.S1080*(1)|p.S1040*(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTAACCAGGTGATAAGATTGT	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	27					2.32078e-09	2.83826e-09	1	1	0
CCDC57	284001	broad.mit.edu	37	17	80159587	80159587	+	Silent	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr17:80159587G>A	ENST00000392347.1	-	2	270	c.234C>T	c.(232-234)ttC>ttT	p.F78F	CCDC57_ENST00000392343.3_Silent_p.F78F|CCDC57_ENST00000389641.4_Silent_p.F78F	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	78								p.F78F(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TGGCCTGGGCGAAGGCGGCGT	0.647000													11	41					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219900114	219900114	+	Missense_Mutation	SNP	T	T	G			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr2:219900114T>G	ENST00000295729.2	-	4	558	c.435A>C	c.(433-435)aaA>aaC	p.K145N	CCDC108_ENST00000410037.1_Intron|CCDC108_ENST00000409865.3_Intron|CCDC108_ENST00000324264.6_Missense_Mutation_p.K145N|CCDC108_ENST00000341552.5_Intron|CCDC108_ENST00000453220.1_Intron|CCDC108_ENST00000441968.1_Intron	NM_152389.2	NP_689602.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	0						integral to membrane	structural molecule activity	p.K145N(1)		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)		TTAAAGgttttttttgtttgt	0.373000													4	17					0	0	1	0	0
TNFRSF8	943	broad.mit.edu	37	1	12186060	12186060	+	Silent	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr1:12186060C>T	ENST00000263932.2	+	11	1428	c.1206C>T	c.(1204-1206)agC>agT	p.S402S	TNFRSF8_ENST00000413146.2_5'UTR|TNFRSF8_ENST00000417814.2_Silent_p.S291S|TNFRSF8_ENST00000479933.2_3'UTR	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	402			S -> G (in dbSNP:rs2230625).		cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		p.S402S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		TCGGCTCCAGCGCCTTCCTCC	0.612000													34	40					0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47597309	47597309	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr19:47597309G>C	ENST00000253048.5	-	4	447	c.410C>G	c.(409-411)tCt>tGt	p.S137C	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	137							nucleic acid binding|zinc ion binding	p.S137C(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TGAGAAGTCAGAGAAGTCATC	0.567000													18	57					0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160637477	160637477	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr2:160637477C>G	ENST00000504764.1	-	36	5161	c.5134G>C	c.(5134-5136)Gaa>Caa	p.E1712Q	CD302_ENST00000429078.2_Missense_Mutation_p.E71Q|CD302_ENST00000480212.1_5'UTR|LY75_ENST00000554112.1_Missense_Mutation_p.E1712Q|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.E1656Q|LY75_ENST00000553424.1_Missense_Mutation_p.E1656Q|CD302_ENST00000259053.4_Missense_Mutation_p.E71Q	NM_001198759.1	NP_001185688.1	O60449	LY75_HUMAN		1580					endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	p.E71Q(1)									AAAGCATTTTCTTCTTCATTA	0.333000													22	55					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101567857	101567857	+	Silent	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr15:101567857C>T	ENST00000284395.5	+	20	2932	c.2532C>T	c.(2530-2532)taC>taT	p.Y844Y	LRRK1_ENST00000388948.3_Silent_p.Y847Y			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	847					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.Y847Y(1)|p.Y859Y(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCAGGAGCTACCTGAGCCTGC	0.692000													4	5					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13850862	13850862	+	Missense_Mutation	SNP	T	T	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr5:13850862T>A	ENST00000265104.4	-	31	5117	c.5013A>T	c.(5011-5013)gaA>gaT	p.E1671D		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1671	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E1671D(1)		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)					CACTGGGCACTTCATGTGCCC	0.468000									Kartagener syndrome				25	51					0	0	1	0	0
THAP4	51078	broad.mit.edu	37	2	242572493	242572493	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr2:242572493C>A	ENST00000407315.1	-	2	1510	c.1079G>T	c.(1078-1080)tGc>tTc	p.C360F		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	360							DNA binding|metal ion binding	p.C360F(1)		kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		CCGCAGGCAGCACACCTGGCT	0.622000													12	34					2.27111e-07	2.63507e-07	1	1	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													4	60					0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97081774	97081774	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr10:97081774G>A	ENST00000371247.2	-	31	3833	c.3644C>T	c.(3643-3645)cCt>cTt	p.P1215L	SORBS1_ENST00000393949.1_Missense_Mutation_p.P927L|SORBS1_ENST00000371239.1_Missense_Mutation_p.P734L|SORBS1_ENST00000371227.4_Missense_Mutation_p.P1189L|SORBS1_ENST00000371249.2_Missense_Mutation_p.P739L|SORBS1_ENST00000371241.1_Missense_Mutation_p.P607L|SORBS1_ENST00000306402.6_Missense_Mutation_p.P704L|SORBS1_ENST00000607232.1_Missense_Mutation_p.P1217L|SORBS1_ENST00000361941.3_Missense_Mutation_p.P1215L|SORBS1_ENST00000277982.5_Missense_Mutation_p.P1074L|SORBS1_ENST00000371246.2_Missense_Mutation_p.P1074L|SORBS1_ENST00000353505.5_Missense_Mutation_p.P828L|SORBS1_ENST00000371245.3_Missense_Mutation_p.P828L|SORBS1_ENST00000354106.3_Missense_Mutation_p.P927L|SORBS1_ENST00000347291.4_Missense_Mutation_p.P769L			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	1215					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	p.P828L(1)|p.P1215L(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CTGGGCTTGAGGTTGCTGAGA	0.443000													24	58					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25427429	25427429	+	RNA	SNP	G	G	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr15:25427429G>T	ENST00000424208.1	+	0	226					NR_003305.1																						CTGGTGCACTGAAGATCGGGC	0.637000													15	38					4.93089e-13	6.4208e-13	1	1	0
SEMA7A	8482	broad.mit.edu	37	15	74704231	74704231	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr15:74704231C>T	ENST00000261918.4	-	11	1965	c.1417G>A	c.(1417-1419)Gag>Aag	p.E473K	SEMA7A_ENST00000542748.1_Missense_Mutation_p.E308K|SEMA7A_ENST00000543145.2_Missense_Mutation_p.E459K	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	473	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	p.E473K(1)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						CTCACCCGCTCAGCATCCAGC	0.597000													21	57					0	0	1	0	0
GALP	85569	broad.mit.edu	37	19	56688495	56688495	+	Silent	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr19:56688495C>T	ENST00000357330.2	+	2	100	c.18C>T	c.(16-18)gtC>gtT	p.V6V	GALP_ENST00000590002.1_Silent_p.V6V|GALP_ENST00000440823.1_Silent_p.V6V	NM_033106.3	NP_149097.1	Q9UBC7	GALP_HUMAN	galanin-like peptide	6					neuropeptide signaling pathway	extracellular region	hormone activity	p.V6V(1)		lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		CTCCCTCCGTCCCCCTGGTCC	0.637000													9	11					0	0	1	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116056837	116056837	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr10:116056837G>A	ENST00000369271.3	-	18	2618	c.2318C>T	c.(2317-2319)tCt>tTt	p.S773F	AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.S777F|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.S830F	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	777					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	p.S777F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GTCTGGGGCAGAGGCAGGTGT	0.582000													10	25					0	0	1	0	0
ADRA1B	147	broad.mit.edu	37	5	159344165	159344165	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr5:159344165G>T	ENST00000306675.3	+	1	376	c.253G>T	c.(253-255)Gtc>Ttc	p.V85F		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	85					cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity	p.V85F(1)		endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	CTACTTCATTGTCAACCTGGC	0.612000													44	58					4.10826e-27	5.7643e-27	1	1	0
CTNNA2	1496	broad.mit.edu	37	2	80646673	80646673	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr2:80646673G>T	ENST00000466387.1	+	13	1961	c.1237G>T	c.(1237-1239)Gaa>Taa	p.E413*	CTNNA2_ENST00000541047.1_Nonsense_Mutation_p.E413*|CTNNA2_ENST00000361291.4_Nonsense_Mutation_p.E447*|CTNNA2_ENST00000496558.1_Nonsense_Mutation_p.E413*|CTNNA2_ENST00000343114.3_Nonsense_Mutation_p.E92*|CTNNA2_ENST00000540488.1_Nonsense_Mutation_p.E413*|CTNNA2_ENST00000402739.4_Nonsense_Mutation_p.E413*			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	413					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.E413*(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AAATGAAAAGGAAGTGAAAGA	0.453000													11	50					3.07112e-06	3.51818e-06	1	1	0
CNRIP1	25927	broad.mit.edu	37	2	68544214	68544214	+	Silent	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr2:68544214G>A	ENST00000409862.1	-	3	586	c.405C>T	c.(403-405)atC>atT	p.I135I	CNRIP1_ENST00000409559.3_Intron|CNRIP1_ENST00000263655.3_Intron|CNRIP1_ENST00000481714.1_Intron			Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	0							protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						CTTACAGAGAGATAGTGATTG	0.438000													17	46					0	0	1	0	0
NDN	4692	broad.mit.edu	37	15	23932094	23932094	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr15:23932094C>G	ENST00000331837.4	-	1	356	c.271G>C	c.(271-273)Gca>Cca	p.A91P		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	91					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	p.A91P(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GCTGGCGGTGCCGGGCCCGGC	0.701000									Prader-Willi syndrome				18	33					0	0	1	0	0
C3AR1	719	broad.mit.edu	37	12	8211356	8211356	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr12:8211356C>G	ENST00000307637.4	-	2	1629	c.1426G>C	c.(1426-1428)Gaa>Caa	p.E476Q		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	476					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	p.E476Q(1)		breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		CTATTTCTTTCTGAAATGACA	0.453000													140	118					0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56344632	56344632	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr11:56344632C>A	ENST00000526812.2	-	1	631	c.566G>T	c.(565-567)tGc>tTc	p.C189F		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C189F(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GGTGTCAGAGCAGGCCAGCAT	0.448000													7	21					0.00448238	0.00477242	1	1	0
CUX1	1523	broad.mit.edu	37	7	101870706	101870706	+	Missense_Mutation	SNP	A	A	C			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr7:101870706A>C	ENST00000360264.3	+	21	3243	c.3223A>C	c.(3223-3225)Agt>Cgt	p.S1075R	CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.S906R|CUX1_ENST00000550008.2_Missense_Mutation_p.S1008R|CUX1_ENST00000546411.2_Missense_Mutation_p.S962R|CUX1_ENST00000549414.2_Missense_Mutation_p.S1042R|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.S1064R	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1064					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S1064R(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GATGAGTTCCAGTGAGTCGGT	0.602000													71	65					0	0	1	0	0
CHRM5	1133	broad.mit.edu	37	15	34355794	34355794	+	Silent	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr15:34355794C>A	ENST00000383263.5	+	3	1546	c.876C>A	c.(874-876)gcC>gcA	p.A292A	CHRM5_ENST00000557872.1_Silent_p.A292A	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	292					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.A292A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	GCCCAAGCGCCAATTGGGCCA	0.627000													27	67					1.68575e-08	2.00738e-08	1	1	0
ADAM11	4185	broad.mit.edu	37	17	42849012	42849012	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr17:42849012G>A	ENST00000200557.6	+	5	611	c.442G>A	c.(442-444)Gcc>Acc	p.A148T	ADAM11_ENST00000535346.1_5'UTR	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	148					integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.A148T(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CTCCTTCGCCGCCCTCTCCAC	0.687000													13	52					0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36590345	36590345	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr19:36590345G>T	ENST00000401500.2	+	22	2600	c.2565G>T	c.(2563-2565)aaG>aaT	p.K855N	WDR62_ENST00000270301.7_Missense_Mutation_p.K855N	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	855					cerebral cortex development	nucleus		p.K855N(1)		cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCCACGCCAAGCGCAGCTACC	0.622000													4	45					1.23904e-05	1.38436e-05	1	1	0
E2F6	1876	broad.mit.edu	37	2	11593783	11593783	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr2:11593783C>T	ENST00000381525.3	-	3	574	c.305G>A	c.(304-306)aGa>aAa	p.R102K	E2F6_ENST00000546212.1_Missense_Mutation_p.R27K|E2F6_ENST00000542100.1_Missense_Mutation_p.R27K|E2F6_ENST00000362009.4_Missense_Mutation_p.R102K|E2F6_ENST00000307236.4_Missense_Mutation_p.R70K	NM_198256.2	NP_937987.2	O75461	E2F6_HUMAN	E2F transcription factor 6	102					negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity	p.R102K(1)		cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		GTCATACACTCTCCGCTTTCG	0.403000													27	101					0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159538326	159538326	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr4:159538326C>A	ENST00000307765.5	+	9	975	c.724C>A	c.(724-726)Ctc>Atc	p.L242I	RXFP1_ENST00000460056.2_Missense_Mutation_p.L161I|RXFP1_ENST00000470033.1_Missense_Mutation_p.L209I|RXFP1_ENST00000343542.5_Missense_Mutation_p.L242I|RXFP1_ENST00000448688.2_Missense_Mutation_p.L161I	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	242						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	p.L242I(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TGATAAACCTCTCTGTCAACA	0.368000													4	71					0.150653	0.158536	1	1	0
CLMP	79827	broad.mit.edu	37	11	122953875	122953875	+	Silent	SNP	G	G	A			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr11:122953875G>A	ENST00000448775.2	-	5	937	c.597C>T	c.(595-597)acC>acT	p.T199T	CLMP_ENST00000530371.1_5'UTR	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	199	Ig-like C2-type 2.					integral to membrane|tight junction		p.T199T(1)		endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						AGTAGGACATGGTAAGATTCT	0.458000													28	44					0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576834	158576834	+	Silent	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr1:158576834C>T	ENST00000361284.1	+	1	606	c.606C>T	c.(604-606)ctC>ctT	p.L202L		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L202L(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TCTTTATCCTCAGTCTTTTGG	0.522000													38	66					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147336253	147336253	+	Silent	SNP	C	C	T			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr7:147336253C>T	ENST00000361727.3	+	13	2469	c.1953C>T	c.(1951-1953)gtC>gtT	p.V651V		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	651	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.V651V(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CGCCTGTGGTCGGCTACAACC	0.507000										HNSCC(39;0.1)			27	67					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37506654	37506654	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr10:37506654A>G	ENST00000374660.1	+	39	3403	c.3304A>G	c.(3304-3306)Aga>Gga	p.R1102G	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.R983G|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.R983G			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1095						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.R983G(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGAGAAGAGAAGAAATGCCGA	0.303000													9	36					0	0	1	0	0
TOR3A	64222	broad.mit.edu	37	1	179064160	179064160	+	Missense_Mutation	SNP	C	C	G			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr1:179064160C>G	ENST00000367627.3	+	6	1753	c.1001C>G	c.(1000-1002)cCc>cGc	p.P334R	TOR3A_ENST00000352445.6_Intron	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	334					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding	p.P334R(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TACTTCATCCCCTTCCTGCCT	0.507000													28	55					0	0	1	0	0
CA3	761	broad.mit.edu	37	8	86360276	86360276	+	Missense_Mutation	SNP	G	G	T	rs142979911		TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr8:86360276G>T	ENST00000285381.2	+	7	760	c.677G>T	c.(676-678)cGg>cTg	p.R226L	RP11-317J10.2_ENST00000521761.1_RNA|RP11-317J10.2_ENST00000517697.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	226					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	p.R226L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GCCAAGCTGCGGAGCCTCCTC	0.542000													9	20					1.76689e-08	2.09025e-08	1	1	0
BRINP3	339479	broad.mit.edu	37	1	190067324	190067324	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr1:190067324delG	ENST00000367462.3	-	8	2356	c.2125delC	c.(2125-2127)gtfs	p.R709fs	FAM5C_ENST00000534846.1_Frame_Shift_Del_p.R607fs|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		709						extracellular region		p.R709S(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TTATTTACACGGTCTCTGATC	0.483													24	47	---	---	---	---					
CEP170	9859	broad.mit.edu	37	1	243336107	243336107	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr1:243336107delA	ENST00000366542.1	-	11	1659	c.1608delT	c.(1606-1608)gtfs	p.V536fs	CEP170_ENST00000366543.1_Frame_Shift_Del_p.V438fs|CEP170_ENST00000366544.1_Frame_Shift_Del_p.V438fs	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	536						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTTCGTTGATAACAGGCCTAT	0.343													2	4	---	---	---	---					
NBEAL1	65065	broad.mit.edu	37	2	204030957	204030957	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr2:204030957delG	ENST00000449802.1	+	36	6046	c.5713delG	c.(5713-5715)gcfs	p.G1905fs		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1905							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						TGTAATTCCTGGCAGATTAGA	0.323													7	45	---	---	---	---					
CNTNAP3B	728577	broad.mit.edu	37	9	43844265	43844265	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr9:43844265delG	ENST00000377564.3	+	10	1992	c.1599delG	c.(1597-1599)gcfs	p.A533fs		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	533	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						AGCAGGGGGCGCTGGGGAGTT	0.542													3	5	---	---	---	---					
OR51T1	401665	broad.mit.edu	37	11	4903460	4903460	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr11:4903460delT	ENST00000380378.1	+	1	412	c.412delT	c.(412-414)tgfs	p.L139fs	OR51T1_ENST00000322049.1_Frame_Shift_Del_p.L112fs|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTTTCTCCTTGCTGGAGTC	0.502													28	97	---	---	---	---					
CLEC2B	9976	broad.mit.edu	37	12	10010150	10010152	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr12:10010150_10010152delCTT	ENST00000228438.2	-	3	1091_1093	c.158_160delAAG	c.(157-162)gga>g	p.EG53del		NM_005127.2	NP_005118.2	Q92478	CLC2B_HUMAN	C-type lectin domain family 2, member B	53	C-type lectin.					integral to plasma membrane	sugar binding			endometrium(1)|large_intestine(3)|lung(1)	5						TTCCAATCTCCTTCTTCTTTAGA	0.325													16	129	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579580	7579580	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	8d3a637e-f628-4eb8-b11c-8fe0153cb671	g.chr17:7579580delG	ENST00000420246.2	-	4	239	c.107delC	c.(106-108)cgfs	p.P36fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.P36fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P36fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P36fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P36fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P36fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	36	Interaction with HRMT1L2.|Transcription activation (acidic).		P -> L (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.P36fs*4(3)|p.?(1)|p.P13fs*18(1)|p.S33fs*6(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGCTTGGGACGGCAAGGGGGA	0.592		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			40	87	---	---	---	---					
BRINP3	339479	broad.mit.edu	37	1	190067324	190067324	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr1:190067324delG	ENST00000367462.3	-	8	2356	c.2125delC	c.(2125-2127)gtfs	p.R709fs	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Frame_Shift_Del_p.R607fs	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		709						extracellular region		p.R709S(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TTATTTACACGGTCTCTGATC	0.483													24	47	---	---	---	---					
CEP170	9859	broad.mit.edu	37	1	243336107	243336107	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr1:243336107delA	ENST00000366542.1	-	11	1659	c.1608delT	c.(1606-1608)gtfs	p.V536fs	CEP170_ENST00000366543.1_Frame_Shift_Del_p.V438fs|CEP170_ENST00000366544.1_Frame_Shift_Del_p.V438fs	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	536						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTTCGTTGATAACAGGCCTAT	0.343													2	4	---	---	---	---					
NBEAL1	65065	broad.mit.edu	37	2	204030957	204030957	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr2:204030957delG	ENST00000449802.1	+	36	6046	c.5713delG	c.(5713-5715)gcfs	p.G1905fs		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1905							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						TGTAATTCCTGGCAGATTAGA	0.323													7	45	---	---	---	---					
OR51T1	401665	broad.mit.edu	37	11	4903460	4903460	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr11:4903460delT	ENST00000380378.1	+	1	412	c.412delT	c.(412-414)tgfs	p.L139fs	MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Frame_Shift_Del_p.L112fs|MMP26_ENST00000477339.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTTTCTCCTTGCTGGAGTC	0.502													28	97	---	---	---	---					
FOLH1	2346	broad.mit.edu	37	11	49229946	49229948	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr11:49229946_49229948delGAA	ENST00000256999.2	-	1	274_276	c.14_16delTTC	c.(13-18)cac>c	p.LH5del	FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000356696.3_In_Frame_Del_p.LH5del|FOLH1_ENST00000340334.7_5'UTR	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	5					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TCGGTTTCGTGAAGGAGATTCCA	0.700													4	8	---	---	---	---					
CLEC2B	9976	broad.mit.edu	37	12	10010150	10010152	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-44-5643-01A-01D-1625-08	TCGA-44-5643-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44286013-ae97-4890-86d3-1163285ac0cd	5abc1095-9276-4e05-9e9e-f849e36f57d4	g.chr12:10010150_10010152delCTT	ENST00000228438.2	-	3	1091_1093	c.158_160delAAG	c.(157-162)gga>g	p.EG53del		NM_005127.2	NP_005118.2	Q92478	CLC2B_HUMAN	C-type lectin domain family 2, member B	53	C-type lectin.					integral to plasma membrane	sugar binding			endometrium(1)|large_intestine(3)|lung(1)	5						TTCCAATCTCCTTCTTCTTTAGA	0.325													16	129	---	---	---	---					
