Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ANKRD11	29123	broad.mit.edu	37	16	89346729	89346729	+	Missense_Mutation	SNP	T	G	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr16:89346729T>G	uc002fmx.1	-	8	6682	c.6221A>C	c.(6220-6222)gAa>gCa	p.E2074A	ANKRD11_uc002fmy.1_Missense_Mutation_p.E2074A|ANKRD11_uc002fnc.1_Missense_Mutation_p.E2074A|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.E2031A	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	2074	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CAGCGGGGCTTCCGGAAGTGA	0.692000														29			3		0	0	0.004672	0	0
HNF1A	6927	broad.mit.edu	37	12	121437158	121437158	+	Missense_Mutation	SNP	T	C	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr12:121437158T>C	uc001tzg.3	+	7	1612	c.1589T>C	c.(1588-1590)cTg>cCg	p.L530P	HNF1A_uc010szn.2_Missense_Mutation_p.L530P|HNF1A_uc021rfa.1_Missense_Mutation_p.L530P|HNF1A_uc021rfb.1_Missense_Mutation_p.L402P|HNF1A_uc021rfc.1_Non-coding_Transcript	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	530					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACCACCAACCTGAGCGCCCTG	0.687000									Hepatic Adenoma, Familial Clustering of					55			44		0	0	0.014410	0	0
JSRP1	126306	broad.mit.edu	37	19	2255343	2255343	+	Splice_Site	SNP	G	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr19:2255343G>A	uc002lvj.2	-	2	42	c.-29_splice	c.e2-1			NM_144616	NP_653217	Q96MG2	JSPR1_HUMAN	Homo sapiens junctional sarcoplasmic reticulum protein 1 (JSRP1), mRNA.							sarcoplasmic reticulum membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAGGCCAGGCTGGGAGGGG	0.647000														9			8		0	0	0.003080	0	0
VPS13B	157680	broad.mit.edu	37	8	100514063	100514063	+	Missense_Mutation	SNP	C	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr8:100514063C>T	uc003yiv.3	+	25	4130	c.4019C>T	c.(4018-4020)cCa>cTa	p.P1340L	VPS13B_uc003yiw.3_Missense_Mutation_p.P1340L|VPS13B_uc003yiu.1_Missense_Mutation_p.P1340L|VPS13B_uc003yix.1_Missense_Mutation_p.P810L	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1340					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTCTTTGCTCCAGATCCTGAA	0.483000														77			48		0	0	0.014410	0	0
CNTN2	6900	broad.mit.edu	37	1	205028742	205028742	+	Silent	SNP	C	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr1:205028742C>A	uc001hbr.3	+	6	998	c.729C>A	c.(727-729)gcC>gcA	p.A243A	CNTN2_uc001hbq.1_Silent_p.A134A|CNTN2_uc009xbi.3_Silent_p.A134A|CNTN2_uc001hbs.3_Silent_p.A31A	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	243	Ig-like C2-type 3.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCATCAAGGCCCGGTTCCCAG	0.582000														75			44		5.85753e-14	6.54978e-14	0.014410	1	0
FAM208B	54906	broad.mit.edu	37	10	5788364	5788364	+	Missense_Mutation	SNP	T	C	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr10:5788364T>C	uc001iij.3	+	14	3605	c.2980T>C	c.(2980-2982)Tct>Cct	p.S994P	FAM208B_uc001iik.3_Intron	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	Homo sapiens family with sequence similarity 208, member B (FAM208B), mRNA.	994																	ATGTCAGAGCTCTGTGTACGG	0.483000														55			48		0	0	0.014410	0	0
NCAM1	4684	broad.mit.edu	37	11	113078684	113078684	+	Missense_Mutation	SNP	G	C	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr11:113078684G>C	uc021qqp.1	+	6	1242	c.870G>C	c.(868-870)aaG>aaC	p.K290N	NCAM1_uc001pno.3_Missense_Mutation_p.K174N|NCAM1_uc001pnp.3_Missense_Mutation_p.K290N|NCAM1_uc021qqo.1_Missense_Mutation_p.K290N|NCAM1_uc001pnq.3_Missense_Mutation_p.K290N|NCAM1_uc001pnr.3_Missense_Mutation_p.K290N	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	292	Ig-like C2-type 3.				axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CTGAGAACAAGGCTGGCGAGC	0.532000														9			6		0	0	0.001168	0	0
TTC8	123016	broad.mit.edu	37	14	89307438	89307438	+	Missense_Mutation	SNP	T	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr14:89307438T>A	uc010ath.3	+	3	491	c.357T>A	c.(355-357)agT>agA	p.S119R	TTC8_uc010atg.1_Non-coding_Transcript|TTC8_uc001xxi.3_Missense_Mutation_p.S129R|TTC8_uc001xxj.3_Missense_Mutation_p.S119R|TTC8_uc001xxk.3_Missense_Mutation_p.S119R|TTC8_uc001xxl.3_5'UTR|TTC8_uc010ati.3_5'UTR|TTC8_uc010atj.3_Intron	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN	Homo sapiens tetratricopeptide repeat domain 8 (TTC8), transcript variant 2, mRNA.	129					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GCACGCAGAGTGGAAGGCCAG	0.498000														61			48		0	0	0.014410	0	0
ATG9A	79065	broad.mit.edu	37	2	220090289	220090289	+	Missense_Mutation	SNP	A	C	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr2:220090289A>C	uc002vke.1	-	5	404	c.218T>G	c.(217-219)tTc>tGc	p.F73C	ATG9A_uc002vkd.1_Non-coding_Transcript|ATG9A_uc002vkf.1_Missense_Mutation_p.F73C	NM_001077198	NP_076990	Q7Z3C6	ATG9A_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog A (S. cerevisiae) (ATG9A), transcript variant 1, mRNA.	73					autophagic vacuole assembly|protein transport	Golgi apparatus|autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACAAAGAGGAACTGCCTGGG	0.532000														35			21		0	0	0.008871	0	0
SPECC1L	23384	broad.mit.edu	37	22	24734414	24734414	+	Missense_Mutation	SNP	C	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr22:24734414C>T	uc002zzw.3	+	9	2924	c.2621C>T	c.(2620-2622)aCc>aTc	p.T874I	SPECC1L_uc002zzv.4_Missense_Mutation_p.T874I|SPECC1L_uc011ajq.2_Missense_Mutation_p.T874I|SPECC1L_uc021wne.1_Non-coding_Transcript	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1-like (SPECC1L), transcript variant 1, mRNA.	874					cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						CCTATGAAAACCCCTCCTGCA	0.498000														113			70		0	0	0.014410	0	0
MCM6	4175	broad.mit.edu	37	2	136620201	136620201	+	Missense_Mutation	SNP	C	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr2:136620201C>A	uc002tuw.3	-	7	1272	c.1196G>T	c.(1195-1197)aGt>aTt	p.S399I		NM_005915	NP_005906	Q14566	MCM6_HUMAN	Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	399	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	CTTAGCTGTACTTGGGTCACC	0.488000														82			63		1.15062e-32	1.34787e-32	0.014410	1	0
SIM1	6492	broad.mit.edu	37	6	100895187	100895187	+	Missense_Mutation	SNP	A	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr6:100895187A>T	uc003pqj.4	-	7	1422	c.955T>A	c.(955-957)Tcc>Acc	p.S319T	SIM1_uc021zdg.1_Missense_Mutation_p.S319T|SIM1_uc010kcu.3_Missense_Mutation_p.S319T	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	319	PAC.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGCCTGGAGGAGCGACTGTTG	0.597000														33			20		0	0	0.010504	0	0
AK300121	0	broad.mit.edu	37	12	52649876	52649876	+	Missense_Mutation	SNP	C	A	A	rs12302416	by1000genomes	TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr12:52649876C>A	uc010snr.1	-	1	369	c.21G>T	c.(19-21)agG>agT	p.R7S	KRT86_uc010snq.2_Intron					SubName: Full=cDNA FLJ60029, highly similar to Keratin, type II cuticular Hb3;																		CTGAGGCCAGCCTCCCACTGT	0.547000														101			5		5.9392e-07	6.19086e-07	0.001168	1	0
TBCA	6902	broad.mit.edu	37	5	76987260	76987260	+	Missense_Mutation	SNP	C	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr5:76987260C>A	uc003kfh.1	-	3	414	c.310G>T	c.(310-312)Gtg>Ttg	p.V104L	TBCA_uc003kfi.1_3'UTR	NM_004607	NP_004598	O75347	TBCA_HUMAN	Homo sapiens tubulin folding cofactor A (TBCA), mRNA.	104					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway|tubulin complex assembly	cytoplasm|microtubule	chaperone binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_lung(232;0.000511)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.02e-49)|Epithelial(54;1.05e-44)|all cancers(79;4.08e-40)		TCTAACTTCACTGAATCCAGT	0.333000														17			10		0.00829132	0.00842836	0.008291	1	0
DNAH6	1768	broad.mit.edu	37	2	84777109	84777109	+	Silent	SNP	A	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr2:84777109A>T	uc010fgb.3	+	8	1550	c.1413A>T	c.(1411-1413)ctA>ctT	p.L471L	DNAH6_uc002soo.3_Silent_p.L50L|DNAH6_uc002sop.3_Silent_p.L50L	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	471	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CTGACAAGCTAAAACGAACAC	0.358000														35			22		0	0	0.016522	0	0
SPHKAP	80309	broad.mit.edu	37	2	228860230	228860230	+	Silent	SNP	G	C	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr2:228860230G>C	uc002vpq.2	-	7	4676	c.4629C>G	c.(4627-4629)tcC>tcG	p.S1543S	SPHKAP_uc002vpp.2_Silent_p.S1543S|SPHKAP_uc010zlx.1_Intron	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1543						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGTACCTCATGGATCGCTCAC	0.483000														141			88		0	0	0.014410	0	0
RUFY2	55680	broad.mit.edu	37	10	70152944	70152944	+	Missense_Mutation	SNP	C	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr10:70152944C>T	uc001job.3	-	6	1033	c.706G>A	c.(706-708)Gcc>Acc	p.A236T	RUFY2_uc001jnz.1_Non-coding_Transcript|RUFY2_uc001joc.3_Missense_Mutation_p.A167T|RUFY2_uc010qiw.2_Missense_Mutation_p.A143T|RUFY2_uc001jod.1_Missense_Mutation_p.A201T|RUFY2_uc009xpv.1_Missense_Mutation_p.A84T	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN	Homo sapiens RUN and FYVE domain containing 2 (RUFY2), transcript variant 1, mRNA.	250						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TCTAATATGGCAGCAATTTGA	0.264000														12			3		0	0	0.004672	0	0
PDE1C	5137	broad.mit.edu	37	7	31877507	31877507	+	Silent	SNP	C	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr7:31877507C>T	uc003tcm.2	-	9	1520	c.1059G>A	c.(1057-1059)aaG>aaA	p.K353K	PDE1C_uc003tcn.1_Silent_p.K353K|PDE1C_uc003tco.2_Silent_p.K413K|PDE1C_uc003tcr.3_Silent_p.K353K|PDE1C_uc003tcs.3_Silent_p.K353K	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	353	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GCAGAGCAGTCTTCATTGCTT	0.433000														204			149		0	0	0.014410	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56789065	56789065	+	Missense_Mutation	SNP	T	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr3:56789065T>A	uc003dih.2	-	5	525	c.415A>T	c.(415-417)Acc>Tcc	p.T139S	ARHGEF3_uc011bew.1_Missense_Mutation_p.T107S|ARHGEF3_uc011bev.1_Missense_Mutation_p.T78S|ARHGEF3_uc003dif.2_Missense_Mutation_p.T113S|ARHGEF3_uc003dig.2_Missense_Mutation_p.T107S|ARHGEF3_uc010hmy.1_5'UTR|ARHGEF3_uc003dii.2_Missense_Mutation_p.T107S	NM_001128615	NP_001122087	Q9NR81	ARHG3_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 3 (ARHGEF3), transcript variant 1, mRNA.	107	DH.				Rho protein signal transduction|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		ACATCGAAGGTCTCACTCCAC	0.587000														89			79		0	0	0.014410	0	0
LCE1F	353137	broad.mit.edu	37	1	152748940	152748940	+	Silent	SNP	A	T	T	rs137888629		TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr1:152748940A>T	uc010pdv.2	+	0	93	c.93A>T	c.(91-93)ccA>ccT	p.P31P		NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	Homo sapiens late cornified envelope 1F (LCE1F), mRNA.	31	Pro-rich.				keratinization			p.P30P(1)		kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			agtgccccccaaagtgtcccc	0.662000														110			6		0	0	0.001984	0	0
MAEL	84944	broad.mit.edu	37	1	166974561	166974561	+	Missense_Mutation	SNP	C	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr1:166974561C>A	uc001gdy.1	+	7	843	c.772C>A	c.(772-774)Ctc>Atc	p.L258I	MAEL_uc021peh.1_Missense_Mutation_p.L202I|MAEL_uc001gdz.1_Missense_Mutation_p.L227I|MAEL_uc009wvf.1_Non-coding_Transcript	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	258					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						ACAAAAATTTCTCAAGGAGCC	0.398000														31			26		1.42536e-11	1.56535e-11	0.004656	1	0
AHR	196	broad.mit.edu	37	7	17362177	17362177	+	Missense_Mutation	SNP	A	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr7:17362177A>T	uc011jxz.1	+	2	919	c.306A>T	c.(304-306)agA>agT	p.R102S		NM_001621	NP_001612	P35869	AHR_HUMAN	Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.	102					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					ATAACTGTAGAGCAGCAAATT	0.333000														46			37		0	0	0.010771	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43953471	43953471	+	Missense_Mutation	SNP	G	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr2:43953471G>T	uc010yny.2	+	16	2685	c.2602G>T	c.(2602-2604)Gat>Tat	p.D868Y	PLEKHH2_uc002rtf.3_Missense_Mutation_p.D867Y	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	868	PH 2.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CAGATCTTGTGATTCAGATGA	0.388000														43			25		7.88262e-20	9.14682e-20	0.018920	1	0
SYNE2	23224	broad.mit.edu	37	14	64596614	64596614	+	Missense_Mutation	SNP	T	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr14:64596614T>A	uc001xgl.3	+	74	14364	c.14134T>A	c.(14134-14136)Tta>Ata	p.L4712I	SYNE2_uc001xgm.3_Missense_Mutation_p.L4712I|SYNE2_uc021ruh.1_Missense_Mutation_p.L4629I|SYNE2_uc010apy.3_Missense_Mutation_p.L1097I|SYNE2_uc010apz.1_Missense_Mutation_p.L604I	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	4712					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGTTTACAAATTAGAGGTATG	0.458000														27			24		0	0	0.018920	0	0
MCM6	4175	broad.mit.edu	37	2	136620202	136620202	+	Missense_Mutation	SNP	T	G	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr2:136620202T>G	uc002tuw.3	-	7	1271	c.1195A>C	c.(1195-1197)Agt>Cgt	p.S399R		NM_005915	NP_005906	Q14566	MCM6_HUMAN	Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	399	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TTAGCTGTACTTGGGTCACCA	0.488000														82			65		0	0	0.014410	0	0
GGT1	2678	broad.mit.edu	37	22	25023938	25023938	+	Missense_Mutation	SNP	T	C	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr22:25023938T>C	uc003aan.1	+	12	1815	c.1328T>C	c.(1327-1329)aTc>aCc	p.I443T	GGT1_uc003aas.1_Missense_Mutation_p.I443T|GGT1_uc003aat.1_Missense_Mutation_p.I443T|GGT1_uc003aau.2_Missense_Mutation_p.I443T|GGT1_uc003aav.2_Missense_Mutation_p.I443T|GGT1_uc003aaw.2_Missense_Mutation_p.I443T|GGT1_uc003aax.2_Missense_Mutation_p.I443T|GGT1_uc003aay.1_Missense_Mutation_p.I99T	NM_013430	NP_038347	P19440	GGT1_HUMAN	Homo sapiens gamma-glutamyltransferase 1 (GGT1), transcript variant 3, mRNA.	443					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	GCCAATTTCATCCAGCCAGGT	0.617000														40			40		0	0	0.008740	0	0
SEPHS2	22928	broad.mit.edu	37	16	30456715	30456715	+	Missense_Mutation	SNP	A	G	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr16:30456715A>G	uc021tgl.1	-	0	510	c.334T>C	c.(334-336)Ttt>Ctt	p.F112L	SEPHS2_uc002dyh.1_Missense_Mutation_p.F55L	NM_012248		Q99611	SPS2_HUMAN	Homo sapiens selenophosphate synthetase 2 (SEPHS2), mRNA.	112					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						AGGGCTGGAAAGGTGGGGCTG	0.711000														15			19		0	0	0.006122	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561688	145561688	+	Missense_Mutation	SNP	A	G	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr1:145561688A>G	uc001eob.1	+	9	1484	c.1376A>G	c.(1375-1377)cAg>cGg	p.Q459R	ANKRD35_uc010oyx.1_Missense_Mutation_p.Q302R	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	459										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CATGCTGACCAGCTGCCTGCT	0.592000														60			47		0	0	0.010771	0	0
KIF3C	3797	broad.mit.edu	37	2	26178417	26178417	+	Missense_Mutation	SNP	A	C	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr2:26178417A>C	uc002rgu.2	-	2	2420	c.1763T>G	c.(1762-1764)cTc>cGc	p.L588R	KIF3C_uc010eyj.1_Non-coding_Transcript|KIF3C_uc010ykr.1_Missense_Mutation_p.L588R	NM_002254	NP_002245	O14782	KIF3C_HUMAN	Homo sapiens kinesin family member 3C (KIF3C), mRNA.	588					blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTTCTTGAGTTTCTTGGT	0.587000														80			60		0	0	0.014410	0	0
C14orf37	145407	broad.mit.edu	37	14	58563683	58563683	+	Missense_Mutation	SNP	C	G	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr14:58563683C>G	uc010tro.2	-	5	2160	c.1962G>C	c.(1960-1962)gaG>gaC	p.E654D	C14orf37_uc001xdc.3_Missense_Mutation_p.E616D|C14orf37_uc001xdd.3_Missense_Mutation_p.E616D	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.	616						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						cctcttcatcctcatcttctt	0.398000														27			26		0	0	0.018920	0	0
FAM86FP	653113	broad.mit.edu	37	12	8387026	8387026	+	RNA	SNP	G	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr12:8387026G>A	uc010sgk.2	-	3		c.430C>T								Homo sapiens family with sequence similarity 86, member F, pseudogene (FAM86FP), non-coding RNA.																		GCACGTCTACGGTGAAAGCTT	0.597000														25			3		0	0	0.004672	0	0
CDH8	1006	broad.mit.edu	37	16	61851550	61851550	+	Silent	SNP	C	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr16:61851550C>T	uc002eog.2	-	6	2065	c.1110G>A	c.(1108-1110)ggG>ggA	p.G370G	CDH8_uc002eoh.3_Silent_p.G139G	NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	370	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R369M(2)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CTTTAAAGGGCCCCCTGCCAC	0.468000														36			35		0	0	0.021022	0	0
LRRC8C	84230	broad.mit.edu	37	1	90180228	90180228	+	Missense_Mutation	SNP	C	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr1:90180228C>A	uc001dnl.4	+	2	2341	c.2099C>A	c.(2098-2100)cCt>cAt	p.P700H		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member C (LRRC8C), mRNA.	700						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TTTATCCCCCCTGAAATTGGA	0.383000														42			28		4.7796e-09	5.1121e-09	0.004656	1	0
DDI2	84301	broad.mit.edu	37	1	15956839	15956839	+	Silent	SNP	C	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr1:15956839C>T	uc001awx.2	+	2	501	c.288C>T	c.(286-288)ttC>ttT	p.F96F	DDI2_uc001aww.3_Silent_p.F96F|RSC1A1_uc009voj.2_5'UTR	NM_032341	NP_115717	Q5TDH0	DDI2_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 2 (S. cerevisiae) (DDI2), mRNA.	96					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GAATAGATTTCAGTAGTATAG	0.463000														59			57		0	0	0.014410	0	0
ESD	2098	broad.mit.edu	37	13	47354151	47354151	+	Silent	SNP	A	G	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr13:47354151A>G	uc001vbn.3	-	7	702	c.519T>C	c.(517-519)gcT>gcC	p.A173A	ESD_uc001vbp.1_Silent_p.A31A	NM_001984	NP_001975	P10768	ESTD_HUMAN	Homo sapiens esterase D (ESD), mRNA.	173						cytoplasmic membrane-bounded vesicle	S-formylglutathione hydrolase activity|carboxylesterase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	TGCAAATTGGAGCAAATGCTG	0.333000														49			36		0	0	0.006230	0	0
CAMK1	8536	broad.mit.edu	37	3	9802445	9802445	+	Missense_Mutation	SNP	C	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr3:9802445C>T	uc003bst.3	-	7	825	c.640G>A	c.(640-642)Ggt>Agt	p.G214S	OGG1_uc003bsl.3_Intron|OGG1_uc003bsk.3_Intron|OGG1_uc003bsm.3_Intron|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|CAMK1_uc003bss.3_5'Flank|AX748417_uc003bsv.1_Non-coding_Transcript	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase I (CAMK1), mRNA.	214	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.G214S(2)		endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		GGAGGGTAACCGCAGAGCCTG	0.552000														23			20		0	0	0.007413	0	0
MAP2K4	6416	broad.mit.edu	37	17	12016635	12016635	+	Silent	SNP	T	C	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr17:12016635T>C	uc002gnj.3	+	6	840	c.771T>C	c.(769-771)tcT>tcC	p.S257S	MAP2K4_uc002gnk.3_Silent_p.S268S|MAP2K4_uc010vvi.2_Silent_p.S139S|MAP2K4_uc010vvj.2_Silent_p.S129S	NM_003010	NP_003001	P45985	MP2K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 4 (MAP2K4), mRNA.	257	Protein kinase.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		TTGTGGACTCTATTGCCAAGA	0.453000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""									48			86		0	0	0.014410	0	0
OR2L8	391190	broad.mit.edu	37	1	248112473	248112473	+	Missense_Mutation	SNP	C	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr1:248112473C>T	uc001idt.1	+	0	314	c.314C>T	c.(313-315)gCa>gTa	p.A105V	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TTCTTCTTGGCATTAGGAGGT	0.433000														225			128		0	0	0.014410	0	0
IL7R	3575	broad.mit.edu	37	5	35876145	35876145	+	Missense_Mutation	SNP	G	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr5:35876145G>T	uc003jjs.3	+	7	1026	c.937G>T	c.(937-939)Gac>Tac	p.D313Y	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	313					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TAGGGTGGATGACATTCAAGC	0.438000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							46			32		3.99451e-17	4.5493e-17	0.009535	1	0
PCLO	27445	broad.mit.edu	37	7	82579067	82579067	+	Missense_Mutation	SNP	C	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr7:82579067C>A	uc003uhx.2	-	5	11126	c.10837G>T	c.(10837-10839)Gct>Tct	p.A3613S	PCLO_uc003uhv.2_Missense_Mutation_p.A3613S|PCLO_uc010lec.3_Missense_Mutation_p.A578S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3544					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGGAAGGAGCCAGCTGTACT	0.483000														96			115		1.38358e-46	1.63635e-46	0.014410	1	0
RBM12B	389677	broad.mit.edu	37	8	94747484	94747484	+	Silent	SNP	A	G	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr8:94747484A>G	uc022aye.1	-	0	1155	c.1155T>C	c.(1153-1155)caT>caC	p.H385H	RBM12B_uc003yfz.3_Silent_p.H385H	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	385							RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TTTGTGAAACATGTCCGGGCC	0.368000														120			83		0	0	0.014410	0	0
API5	8539	broad.mit.edu	37	11	43342441	43342441	+	Missense_Mutation	SNP	T	C	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr11:43342441T>C	uc010rfh.1	+	2	475	c.302T>C	c.(301-303)aTa>aCa	p.I101T	API5_uc001mxf.2_Missense_Mutation_p.I101T|API5_uc010rfg.1_Missense_Mutation_p.I90T|API5_uc010rfi.1_Missense_Mutation_p.I47T|API5_uc021qgi.1_Missense_Mutation_p.I101T|API5_uc001mxg.3_5'UTR	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN	Homo sapiens apoptosis inhibitor 5 (API5), transcript variant 1, mRNA.	101					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						GTGGCAGATATACTAACGCAA	0.343000														45			38		0	0	0.006230	0	0
PCF11	51585	broad.mit.edu	37	11	82877727	82877727	+	Silent	SNP	A	G	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr11:82877727A>G	uc001ozx.4	+	4	2133	c.1788A>G	c.(1786-1788)agA>agG	p.R596R	PCF11_uc010rsu.1_Silent_p.R596R	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	596					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CTGCCAAAAGATGGAAATCTG	0.343000														61			55		0	0	0.014410	0	0
C3orf71	646450	broad.mit.edu	37	3	48956091	48956091	+	Silent	SNP	T	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr3:48956091T>A	uc010hkk.1	-	0	728	c.492A>T	c.(490-492)ccA>ccT	p.P164P	ARIH2_uc003cvb.3_5'Flank|ARIH2_uc003cvc.3_5'Flank	NM_001123040	NP_001116512	Q8N7S6	CC071_HUMAN	Homo sapiens chromosome 3 open reading frame 71 (C3orf71), mRNA.	164						integral to membrane				breast(1)|endometrium(2)|lung(1)|urinary_tract(1)	5						CGGGAGACGCTGGTAGGCGAA	0.587000														22			29		0	0	0.008361	0	0
DROSHA	29102	broad.mit.edu	37	5	31526783	31526783	+	Missense_Mutation	SNP	G	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr5:31526783G>T	uc003jhg.2	-	3	616	c.257C>A	c.(256-258)cCt>cAt	p.P86H	DROSHA_uc003jhh.2_Missense_Mutation_p.P86H|DROSHA_uc003jhi.2_Missense_Mutation_p.P86H|DROSHA_uc010iui.1_Missense_Mutation_p.P77H	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA.	86	Pro-rich.				RNA processing|gene silencing by RNA|ribosome biogenesis	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CGCTGACGGAGGCATGGGTGG	0.592000														20			19		2.4624e-09	2.6568e-09	0.008871	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5235155	5235155	+	Missense_Mutation	SNP	G	C	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr5:5235155G>C	uc003jdl.3	+	12	2017	c.1879G>C	c.(1879-1881)Ggc>Cgc	p.G627R	ADAMTS16_uc003jdk.1_Missense_Mutation_p.G627R|ADAMTS16_uc010itk.1_Non-coding_Transcript	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	627	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GTTCTGTGAGGGCTCCACTCG	0.443000														40			28		0	0	0.010818	0	0
LOC100288069	100288069	broad.mit.edu	37	1	700532	700532	+	RNA	SNP	T	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr1:700532T>A	uc001abo.3	-	6		c.1084A>T								Homo sapiens general transcription factor IIi pseudogene (LOC100288069), non-coding RNA.																		aaaaaaaaaaTTCCTTTGGGA	0.453000														3			2		0	0	0.009096	0	0
ST8SIA2	8128	broad.mit.edu	37	15	93007607	93007607	+	Missense_Mutation	SNP	G	A	A	rs144679464	byFrequency	TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr15:93007607G>A	uc002bra.3	+	5	1275	c.1120G>A	c.(1120-1122)Gcc>Acc	p.A374T	ST8SIA2_uc002brb.3_Missense_Mutation_p.A353T	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 (ST8SIA2), mRNA.	374					N-glycan processing|axon guidance|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			GTGCGATGGGGCCACGTAGGG	0.592000														48			35		0	0	0.013726	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140223201	140223201	+	Silent	SNP	G	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr5:140223201G>A	uc003lhs.2	+	0	2295	c.2295G>A	c.(2293-2295)ccG>ccA	p.P765P	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Silent_p.P765P	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	802					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGGCCACCGAAGACGGACC	0.592000														7			27		0	0	0.006320	0	0
TAF1B	9014	broad.mit.edu	37	2	10051000	10051000	+	Missense_Mutation	SNP	T	C	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr2:10051000T>C	uc002qzz.3	+	9	1191	c.1091T>C	c.(1090-1092)gTg>gCg	p.V364A	TAF1B_uc010exc.2_Missense_Mutation_p.V364A|TAF1B_uc002qzy.4_Missense_Mutation_p.V364A|TAF1B_uc010yja.2_Missense_Mutation_p.V109A|TAF1B_uc010exd.3_Missense_Mutation_p.V109A	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa (TAF1B), mRNA.	364					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATCATTGTGGTGGTATTGAAA	0.358000														38			20		0	0	0.004656	0	0
SLC9A3	6550	broad.mit.edu	37	5	476140	476140	+	Missense_Mutation	SNP	T	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr5:476140T>A	uc003jbe.2	-	13	2247	c.2135A>T	c.(2134-2136)gAg>gTg	p.E712V	SLC9A3_uc011clx.1_Missense_Mutation_p.E703V|BC013821_uc011cly.2_5'Flank	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA.	712						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CGCACCTTTCTCCTTGATGGT	0.642000														12			7		0	0	0.001984	0	0
MDN1	23195	broad.mit.edu	37	6	90426453	90426453	+	Missense_Mutation	SNP	C	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr6:90426453C>T	uc003pnn.1	-	43	6775	c.6659G>A	c.(6658-6660)gGc>gAc	p.G2220D		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	2220					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCAAATGTGCCATGGCTATG	0.473000														55			34		0	0	0.015359	0	0
PIDD	55367	broad.mit.edu	37	11	803185	803185	+	Missense_Mutation	SNP	G	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr11:803185G>T	uc001lro.2	-	2	845	c.698C>A	c.(697-699)cCa>cAa	p.P233Q	PIDD_uc009yck.1_5'Flank|PIDD_uc001lrl.1_Missense_Mutation_p.P87Q|PIDD_uc001lrm.1_5'UTR|PIDD_uc001lrn.2_Missense_Mutation_p.P87Q|PIDD_uc001lrk.2_Missense_Mutation_p.P233Q|PIDD_uc001lrp.2_5'UTR	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	Homo sapiens p53-induced death domain protein (PIDD), transcript variant 1, mRNA.	233					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										CAGAGAGGCTGGGAGGCTCTG	0.657000														19			20		2.21704e-12	2.45671e-12	0.016522	1	0
LOC554223	554223	broad.mit.edu	37	6	29759996	29759996	+	Missense_Mutation	SNP	T	C	C	rs1610645	byFrequency	TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr6:29759996T>C	uc003nnt.3	+	0	314	c.212T>C	c.(211-213)tTc>tCc	p.F71S	HCG4_uc003nns.3_Non-coding_Transcript|LOC554223_uc010jrm.1_Intron	NM_001207043	NP_001193972	Q86V94	Q86V94_HUMAN	Homo sapiens histocompatibility antigen-related (LOC554223), mRNA.	71					antigen processing and presentation|immune response	MHC class I protein complex											CTCCGATTCTTCCCAGTCGCC	0.622000														19			2		0	0	0.004672	0	0
DHX16	8449	broad.mit.edu	37	6	30640464	30640464	+	Missense_Mutation	SNP	G	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr6:30640464G>T	uc003nqz.3	-	0	367	c.155C>A	c.(154-156)aCc>aAc	p.T52N	DHX16_uc011dmo.2_Intron	NM_003587	NP_003578	O60231	DHX16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA.	52					RNA splicing|mRNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			kidney(2)|ovary(2)	4						GAGATCCAAGGTATCAGTGTC	0.647000														37			20		8.04996e-18	9.25369e-18	0.012319	1	0
C3AR1	719	broad.mit.edu	37	12	8211578	8211578	+	Missense_Mutation	SNP	G	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr12:8211578G>A	uc001qtv.1	-	1	1296	c.1204C>T	c.(1204-1206)Ctt>Ttt	p.L402F	C3AR1_uc021quj.1_Missense_Mutation_p.L402F	NM_004054	NP_004045	Q16581	C3AR_HUMAN	Homo sapiens complement component 3a receptor 1 (C3AR1), mRNA.	402					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			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		GGGTCAGTAAGCAATGACAGG	0.483000														53			7		0	0	0.003080	0	0
MET	4233	broad.mit.edu	37	7	116422117	116422117	+	Missense_Mutation	SNP	T	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr7:116422117T>A	uc003vij.3	+	17	3785	c.3598T>A	c.(3598-3600)Ttt>Att	p.F1200I	MET_uc010lkh.3_Missense_Mutation_p.F1218I|MET_uc011knj.2_Missense_Mutation_p.F770I	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	1200	Protein kinase.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.F1218V(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AAGCAAAAAGTTTGTCCACAG	0.393000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					35			26		0	0	0.006320	0	0
RBM15	64783	broad.mit.edu	37	1	110882978	110882978	+	Silent	SNP	T	C	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr1:110882978T>C	uc001dzl.1	+	0	1034	c.951T>C	c.(949-951)ccT>ccC	p.P317P	RBM15_uc001dzm.1_Silent_p.P317P|LOC440600_uc001dzj.3_5'Flank|RBM15_uc021orn.1_Silent_p.P317P	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	Homo sapiens RNA binding motif protein 15 (RBM15), transcript variant 1, mRNA.	317					interspecies interaction between organisms	nucleus	RNA binding|nucleotide binding|protein binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCCTGCCCCCTCCACCTCCGC	0.607000			T	MKL1	acute megakaryocytic leukemia									53			41		0	0	0.011902	0	0
RNF13	11342	broad.mit.edu	37	3	149678575	149678575	+	Missense_Mutation	SNP	C	G	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr3:149678575C>G	uc003exn.4	+	10	1614	c.830C>G	c.(829-831)aCc>aGc	p.T277S	RNF13_uc003exp.4_Missense_Mutation_p.T277S|RNF13_uc010hvh.3_Missense_Mutation_p.T158S	NM_007282	NP_899237	O43567	RNF13_HUMAN	Homo sapiens ring finger protein 13 (RNF13), transcript variant 1, mRNA.	277					protein autoubiquitination	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ACCAAAAAAACCTGTCCAGTG	0.398000														38			23		0	0	0.014323	0	0
DDX11L10	100287029	broad.mit.edu	37	16	62983	62983	+	RNA	SNP	G	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr16:62983G>T	uc010bqm.2	+	2		c.545G>T								Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 10 (DDX11L10), non-coding RNA.																		GTCCTGGACAGGCTGTTGGCC	0.562000														6			3		0.00024832	0.000256667	0.009096	1	0
GALNTL6	442117	broad.mit.edu	37	4	173269759	173269759	+	Missense_Mutation	SNP	C	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr4:173269759C>T	uc003isv.3	+	4	1208	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA.	158	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TTCACTCCTGCGGACCATACA	0.428000														75			78		0	0	0.014410	0	0
CHKB	1120	broad.mit.edu	37	22	51018475	51018475	+	Silent	SNP	A	C	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr22:51018475A>C	uc003bmv.3	-	7	1073	c.855T>G	c.(853-855)gtT>gtG	p.V285V	CPT1B_uc003bmk.4_5'Flank|CPT1B_uc003bmm.3_5'Flank|CPT1B_uc003bml.3_5'Flank|CPT1B_uc003bmo.3_5'Flank|CPT1B_uc011asa.2_5'Flank|CPT1B_uc003bmn.3_5'Flank|CPT1B_uc011asb.2_5'Flank|CPT1B_uc003bmp.3_5'Flank|CPT1B_uc021wsc.1_Non-coding_Transcript|CHKB_uc003bmt.2_Silent_p.V76V|CHKB_uc003bmu.3_Silent_p.V164V|LOC100144603_uc003bmw.4_5'Flank	NM_005198	NP_005189	Q9Y259	CHKB_HUMAN	Homo sapiens choline kinase beta (CHKB), mRNA.	285					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	TATAATCATAAACCCACTCAC	0.522000														73			48		0	0	0.014410	0	0
C1QL3	389941	broad.mit.edu	37	10	16556595	16556595	+	Missense_Mutation	SNP	C	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr10:16556595C>T	uc001ioj.1	-	1	1640	c.700G>A	c.(700-702)Ggg>Agg	p.G234R		NM_001010908	NP_001010908	Q5VWW1	C1QL3_HUMAN	Homo sapiens complement component 1, q subcomponent-like 3 (C1QL3), mRNA.	234	C1q.					collagen		p.G234W(2)|p.G233G(1)		breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TGGGCTTTCCCGCCATCTAAT	0.393000														57			39		0	0	0.007835	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103438368	103438368	+	Missense_Mutation	SNP	T	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr14:103438368T>A	uc001ymi.1	-	12	2004	c.1772A>T	c.(1771-1773)aAg>aTg	p.K591M		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	591					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CACCTTCTGCTTCTGGGCACG	0.617000														64			54		0	0	0.014410	0	0
MUC2	4583	broad.mit.edu	37	11	1097183	1097183	+	Splice_Site	SNP	T	G	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr11:1097183T>G	uc001lsx.1	+	37	6613	c.6586_splice	c.e37-1	p.V2196_splice		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4562						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CGGCCACAGGTGCAGGTGAAC	0.627000														26			19		0	0	0.008871	0	0
PDE9A	5152	broad.mit.edu	37	21	44152003	44152003	+	Missense_Mutation	SNP	A	G	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr21:44152003A>G	uc002zbm.3	+	4	449	c.386A>G	c.(385-387)gAg>gGg	p.E129G	PDE9A_uc002zbn.3_Intron|PDE9A_uc002zbo.3_Intron|PDE9A_uc002zbp.3_5'UTR|PDE9A_uc002zbq.3_Intron|PDE9A_uc002zbs.3_Intron|PDE9A_uc002zbr.3_Intron|PDE9A_uc002zbt.3_Intron|PDE9A_uc002zbu.3_Intron|PDE9A_uc002zbv.3_Intron|PDE9A_uc002zbw.3_Intron|PDE9A_uc002zbx.3_Intron|PDE9A_uc002zby.3_Intron|PDE9A_uc002zbz.3_Intron|PDE9A_uc002zca.3_Missense_Mutation_p.E88G|PDE9A_uc002zcb.3_Missense_Mutation_p.E103G|PDE9A_uc002zcc.3_Intron|PDE9A_uc002zcd.3_Intron|PDE9A_uc002zce.3_Missense_Mutation_p.E62G|PDE9A_uc002zcf.3_5'UTR|PDE9A_uc002zcg.3_Intron	NM_002606	NP_001001585	O76083	PDE9A_HUMAN	Homo sapiens phosphodiesterase 9A (PDE9A), transcript variant 1, mRNA.	129					platelet activation|signal transduction	Golgi apparatus|cytosol|endoplasmic reticulum|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						GGACAGGTAGAGCCCAGGCCC	0.652000														22			24		0	0	0.018920	0	0
GABRA2	2555	broad.mit.edu	37	4	46312218	46312218	+	Silent	SNP	A	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr4:46312218A>T	uc011bzc.1	-	4	778	c.366T>A	c.(364-366)gcT>gcA	p.A122A	GABRA2_uc003gxc.3_Silent_p.A177A|GABRA2_uc010igc.2_Silent_p.A177A|GABRA2_uc003gxe.3_Silent_p.A177A			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	177					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GACATGAATGAGCATCCATTG	0.388000														57			45		0	0	0.014410	0	0
KIAA0284	283638	broad.mit.edu	37	14	105353612	105353612	+	Missense_Mutation	SNP	T	G	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr14:105353612T>G	uc001yps.3	+	10	3132	c.2826T>G	c.(2824-2826)caT>caG	p.H942Q	KIAA0284_uc010axb.3_Missense_Mutation_p.H942Q|KIAA0284_uc001ypt.3_5'Flank	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.	1012						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		AGAGGCAGCATCACCCACTTG	0.687000														20			12		0	0	0.013537	0	0
LPIN1	23175	broad.mit.edu	37	2	11960560	11960560	+	Silent	SNP	A	G	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr2:11960560A>G	uc010yjm.2	+	20	2741	c.2688A>G	c.(2686-2688)gtA>gtG	p.V896V	LPIN1_uc010yjn.2_Silent_p.V811V|LPIN1_uc002rbt.3_Silent_p.V811V|LPIN1_uc010yjo.2_Silent_p.V312V	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	811					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		ACAAGCAAGTAGGAGTGTCTT	0.348000														36			25		0	0	0.021523	0	0
RUFY2	55680	broad.mit.edu	37	10	70152941	70152941	+	Missense_Mutation	SNP	T	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr10:70152941T>A	uc001job.3	-	6	1036	c.709A>T	c.(709-711)Ata>Tta	p.I237L	RUFY2_uc001jnz.1_Non-coding_Transcript|RUFY2_uc001joc.3_Missense_Mutation_p.I168L|RUFY2_uc010qiw.2_Missense_Mutation_p.I144L|RUFY2_uc001jod.1_Missense_Mutation_p.I202L|RUFY2_uc009xpv.1_Missense_Mutation_p.I85L	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN	Homo sapiens RUN and FYVE domain containing 2 (RUFY2), transcript variant 1, mRNA.	251						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TGGTCTAATATGGCAGCAATT	0.264000														12			3		0	0	0.004672	0	0
SNPH	9751	broad.mit.edu	37	20	1286555	1286555	+	Missense_Mutation	SNP	C	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr20:1286555C>T	uc002wet.3	+	6	2155	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W	SNPH_uc002wes.3_Missense_Mutation_p.R448W	NM_014723	NP_055538	O15079	SNPH_HUMAN	Homo sapiens syntaphilin (SNPH), mRNA.	448					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CCGCTCCCAGCGGCGCCAGGG	0.672000														5			6		0	0	0.001984	0	0
HNRNPUL2	221092	broad.mit.edu	37	11	62488862	62488862	+	Missense_Mutation	SNP	T	C	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr11:62488862T>C	uc001nuw.3	-	8	1745	c.1516A>G	c.(1516-1518)Aaa>Gaa	p.K506E	HNRNPUL2_uc001nuu.2_Non-coding_Transcript	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 2 (HNRNPUL2), mRNA.	506					cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TCTCGGCTTTTGGGGTCCATC	0.428000														105			75		0	0	0.014410	0	0
ALDH2	217	broad.mit.edu	37	12	112227694	112227694	+	Missense_Mutation	SNP	T	C	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr12:112227694T>C	uc001tst.3	+	4	604	c.508T>C	c.(508-510)Tac>Cac	p.Y170H	ALDH2_uc010syi.2_Missense_Mutation_p.Y123H	NM_000690	NP_000681	P05091	ALDH2_HUMAN	Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	170					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	CTTCTTCAGCTACACACGCCA	0.527000			T	HMGA2	leiomyoma									31			19		0	0	0.008871	0	0
PANK3	79646	broad.mit.edu	37	5	167995656	167995656	+	Missense_Mutation	SNP	G	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr5:167995656G>A	uc003lzz.2	-	1	702	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C		NM_024594	NP_078870	Q9H999	PANK3_HUMAN	Homo sapiens pantothenate kinase 3 (PANK3), mRNA.	126					coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity	p.R126C(2)		NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		CCTACTGTGCGAAAATCTTTT	0.373000														56			35		0	0	0.013726	0	0
NAGLU	4669	broad.mit.edu	37	17	40695935	40695935	+	Silent	SNP	C	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr17:40695935C>T	uc002hzv.3	+	5	2251	c.1911C>T	c.(1909-1911)ttC>ttT	p.F637F		NM_000263	NP_000254	P54802	ANAG_HUMAN	Homo sapiens N-acetylglucosaminidase, alpha (NAGLU), mRNA.	637						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	AGGCCGATTTCTACGAGCAGA	0.627000														9			8		0	0	0.006214	0	0
AHCTF1	25909	broad.mit.edu	37	1	247070995	247070995	+	Missense_Mutation	SNP	C	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr1:247070995C>T	uc001ibv.2	-	4	746	c.649G>A	c.(649-651)Ggg>Agg	p.G217R		NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	208	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AGATGGCGCCCTTGTCTCATT	0.383000														61			49		0	0	0.014410	0	0
PPIC	5480	broad.mit.edu	37	5	122359696	122359696	+	Silent	SNP	T	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr5:122359696T>A	uc003kth.3	-	4	618	c.513A>T	c.(511-513)acA>acT	p.T171T		NM_000943	NP_000934	P45877	PPIC_HUMAN	Homo sapiens peptidylprolyl isomerase C (cyclophilin C) (PPIC), mRNA.	171	PPIase cyclophilin-type.				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	AGTGCACCACTGTCTGGTGAG	0.478000														98			66		0	0	0.014410	0	0
ANKRD11	29123	broad.mit.edu	37	16	89346757	89346757	+	Missense_Mutation	SNP	A	G	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr16:89346757A>G	uc002fmx.1	-	8	6654	c.6193T>C	c.(6193-6195)Ttc>Ctc	p.F2065L	ANKRD11_uc002fmy.1_Missense_Mutation_p.F2065L|ANKRD11_uc002fnc.1_Missense_Mutation_p.F2065L|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.F2022L	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	2065	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTGCTGAAGAAGGACTCCAGC	0.706000														37			3		0	0	0.004672	0	0
CATSPER2	117155	broad.mit.edu	37	15	43928412	43928412	+	Missense_Mutation	SNP	A	G	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr15:43928412A>G	uc001zsh.3	-	7	1063	c.848T>C	c.(847-849)cTc>cCc	p.L283P	CATSPER2_uc010bdm.3_Non-coding_Transcript|CATSPER2_uc001zsi.3_Missense_Mutation_p.L283P|CATSPER2_uc001zsj.3_Missense_Mutation_p.L283P|AX748052_uc021ska.1_5'Flank	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN	Homo sapiens cation channel, sperm associated 2 (CATSPER2), transcript variant 2, mRNA.	283					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GGAATTCGGGAGGTCCCTAAA	0.413000														29			19		0	0	0.016522	0	0
OR11G2	390439	broad.mit.edu	37	14	20666034	20666034	+	Silent	SNP	C	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr14:20666034C>T	uc010tlb.2	+	0	540	c.540C>T	c.(538-540)acC>acT	p.T180T		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GTCTCTGTACCAATCTTGTGG	0.448000														59			31		0	0	0.013726	0	0
LARP1	23367	broad.mit.edu	37	5	154183178	154183178	+	Missense_Mutation	SNP	T	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr5:154183178T>A	uc003lvo.3	+	12	2105	c.2081T>A	c.(2080-2082)gTc>gAc	p.V694D	LARP1_uc021ygh.1_Missense_Mutation_p.V566D|LARP1_uc021ygi.1_Missense_Mutation_p.V771D|LARP1_uc010jie.1_Missense_Mutation_p.V566D	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	771							RNA binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCAACCACTGTCCCAGAGTCA	0.582000														30			26		0	0	0.004656	0	0
BRCA2	675	broad.mit.edu	37	13	32907353	32907353	+	Missense_Mutation	SNP	A	C	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr13:32907353A>C	uc001uub.1	+	9	1965	c.1738A>C	c.(1738-1740)Ata>Cta	p.I580L	BRCA2_uc001uua.1_Missense_Mutation_p.I457L	NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	580					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TGCAGGTTTAATATCCACTTT	0.338000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				44			47		0	0	0.010771	0	0
IREB2	3658	broad.mit.edu	37	15	78755356	78755356	+	Missense_Mutation	SNP	T	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr15:78755356T>A	uc002bdr.2	+	2	361	c.199T>A	c.(199-201)Tta>Ata	p.L67I	IREB2_uc010unb.1_5'UTR|IREB2_uc002bdq.3_Missense_Mutation_p.L67I	NM_004136	NP_004127	P48200	IREB2_HUMAN	Homo sapiens iron-responsive element binding protein 2 (IREB2), mRNA.	67							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TATGAACATTTTAGACTGGAA	0.378000														94			66		0	0	0.014410	0	0
LSM12	124801	broad.mit.edu	37	17	42117589	42117589	+	Silent	SNP	C	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr17:42117589C>T	uc002iev.3	-	3	617	c.294G>A	c.(292-294)aaG>aaA	p.K98K	LSM12_uc010wit.2_Intron|LSM12_uc002iew.1_Non-coding_Transcript	NM_152344	NP_689557	Q3MHD2	LSM12_HUMAN	Homo sapiens LSM12 homolog (S. cerevisiae) (LSM12), mRNA.	98							protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	6		Breast(137;0.0313)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCTGGCTCAGCTTCTCCTCCT	0.517000														23			33		0	0	0.019004	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140811805	140811805	+	Silent	SNP	G	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr5:140811805G>A	uc003lkt.2	+	0	1648	c.1479G>A	c.(1477-1479)gaG>gaA	p.E493E	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Silent_p.E493E	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	495	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTGGCTGAGAACACCATCC	0.557000														44			34		0	0	0.010818	0	0
ESPL1	9700	broad.mit.edu	37	12	53687232	53687232	+	Missense_Mutation	SNP	T	C	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr12:53687232T>C	uc001sck.2	+	30	6428	c.6337T>C	c.(6337-6339)Tat>Cat	p.Y2113H	ESPL1_uc001scj.2_Missense_Mutation_p.Y1788H|PFDN5_uc001scl.3_5'Flank|PFDN5_uc001scm.3_5'Flank|PFDN5_uc001scn.3_5'Flank|PFDN5_uc001sco.3_5'Flank	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	2113					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ACCTATAGCCTATGGCTTGCC	0.527000														41			36		0	0	0.008740	0	0
NEO1	4756	broad.mit.edu	37	15	73590713	73590713	+	Missense_Mutation	SNP	C	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr15:73590713C>T	uc002avm.4	+	26	4118	c.3926C>T	c.(3925-3927)aCt>aTt	p.T1309I	NEO1_uc010ukx.2_Missense_Mutation_p.T1298I|NEO1_uc010uky.2_Missense_Mutation_p.T1256I|NEO1_uc002avn.4_Missense_Mutation_p.T1302I|NEO1_uc010ukz.2_Missense_Mutation_p.T722I	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	1309					axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						ACCCCCAGCACTGACACCATG	0.483000														30			33		0	0	0.009535	0	0
LSM14B	149986	broad.mit.edu	37	20	60705292	60705292	+	Missense_Mutation	SNP	G	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr20:60705292G>A	uc010gjy.1	+	4	819	c.613G>A	c.(613-615)Gct>Act	p.A205T	LSM14B_uc010gjx.1_Missense_Mutation_p.A231T|LSM14B_uc010gjz.1_Missense_Mutation_p.A161T|LSM14B_uc010zzz.1_Missense_Mutation_p.A125T	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	Homo sapiens LSM14B, SCD6 homolog B (S. cerevisiae) (LSM14B), mRNA.	205					multicellular organismal development|regulation of translation	ribonucleoprotein complex				endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CCAGCCGGCAGCTGTGCAAGC	0.567000														6			5		0	0	0.014758	0	0
DOPEY2	9980	broad.mit.edu	37	21	37626086	37626086	+	Missense_Mutation	SNP	G	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr21:37626086G>A	uc002yvg.3	+	22	5217	c.5138G>A	c.(5137-5139)aGt>aAt	p.S1713N	DOPEY2_uc011aeb.2_Missense_Mutation_p.S1662N|DOPEY2_uc002yvh.3_Missense_Mutation_p.S564N	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	1713					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCAACGGCAAGTGCATCCCAG	0.468000														81			60		0	0	0.014410	0	0
LPIN1	23175	broad.mit.edu	37	2	11960558	11960558	+	Missense_Mutation	SNP	G	C	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr2:11960558G>C	uc010yjm.2	+	20	2739	c.2686G>C	c.(2686-2688)Gta>Cta	p.V896L	LPIN1_uc010yjn.2_Missense_Mutation_p.V811L|LPIN1_uc002rbt.3_Missense_Mutation_p.V811L|LPIN1_uc010yjo.2_Missense_Mutation_p.V312L	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	811					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		ATACAAGCAAGTAGGAGTGTC	0.348000														37			24		0	0	0.018920	0	0
DHX16	8449	broad.mit.edu	37	6	30640454	30640454	+	Silent	SNP	G	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr6:30640454G>T	uc003nqz.3	-	0	377	c.165C>A	c.(163-165)ctC>ctA	p.L55L	DHX16_uc011dmo.2_Intron	NM_003587	NP_003578	O60231	DHX16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA.	55					RNA splicing|mRNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			kidney(2)|ovary(2)	4						CCGGCCCACTGAGATCCAAGG	0.652000														32			22		9.95505e-16	1.12337e-15	0.014323	1	0
OR8I2	120586	broad.mit.edu	37	11	55861616	55861616	+	Missense_Mutation	SNP	C	T	T	rs140206966	byFrequency	TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr11:55861616C>T	uc010rix.2	+	0	833	c.833C>T	c.(832-834)aCg>aTg	p.T278M		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T278M(2)|p.T278T(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GTATTCTATACGATTGTCATT	0.408000														77			4		0	0	0.003080	0	0
BRWD1	54014	broad.mit.edu	37	21	40641908	40641908	+	Missense_Mutation	SNP	T	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr21:40641908T>A	uc002yxk.2	-	14	1742	c.1447A>T	c.(1447-1449)Att>Ttt	p.I483F	BRWD1_uc021wjf.1_Missense_Mutation_p.I483F|BRWD1_uc010goe.1_Non-coding_Transcript|BRWD1_uc010gof.1_5'UTR|BRWD1_uc010gog.1_Non-coding_Transcript|BRWD1_uc010goh.1_Non-coding_Transcript|BRWD1_uc010goi.1_Missense_Mutation_p.I203F	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GATAACATAATTCTGGAATCA	0.333000														20			23		0	0	0.018920	0	0
CDT1	81620	broad.mit.edu	37	16	88872437	88872437	+	Missense_Mutation	SNP	G	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr16:88872437G>A	uc002flu.3	+	5	895	c.841G>A	c.(841-843)Gga>Aga	p.G281R		NM_030928	NP_112190	Q9H211	CDT1_HUMAN	Homo sapiens chromatin licensing and DNA replication factor 1 (CDT1), mRNA.	281					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		AGAGGCTGACGGAGCAGCCCC	0.672000														6			4		0	0	0.014758	0	0
CHRNB3	1142	broad.mit.edu	37	8	42565553	42565553	+	Missense_Mutation	SNP	G	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr8:42565553G>A	uc003xpi.1	+	2	353	c.225G>A	c.(223-225)atG>atA	p.M75I		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	75					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ATCAGCTGATGACAACCAATG	0.313000														12			18		0	0	0.008871	0	0
MSH4	4438	broad.mit.edu	37	1	76269502	76269502	+	Missense_Mutation	SNP	G	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr1:76269502G>A	uc001dhd.2	+	1	446	c.331G>A	c.(331-333)Gat>Aat	p.D111N		NM_002440	NP_002431	O15457	MSH4_HUMAN	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.	111					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TTCTGCACGAGATACTAATTA	0.363000								Mismatch excision repair (MMR)						48			47		0	0	0.014410	0	0
ANKRD11	29123	broad.mit.edu	37	16	89346729	89346729	+	Missense_Mutation	SNP	T	G	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr16:89346729T>G	uc002fmx.1	-	8	6682	c.6221A>C	c.(6220-6222)gAa>gCa	p.E2074A	ANKRD11_uc002fmy.1_Missense_Mutation_p.E2074A|ANKRD11_uc002fnc.1_Missense_Mutation_p.E2074A|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.E2031A	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	2074	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CAGCGGGGCTTCCGGAAGTGA	0.692000														29			3		0	0	0.004672	0	0
HNF1A	6927	broad.mit.edu	37	12	121437158	121437158	+	Missense_Mutation	SNP	T	C	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr12:121437158T>C	uc001tzg.3	+	7	1612	c.1589T>C	c.(1588-1590)cTg>cCg	p.L530P	HNF1A_uc010szn.2_Missense_Mutation_p.L530P|HNF1A_uc021rfa.1_Missense_Mutation_p.L530P|HNF1A_uc021rfb.1_Missense_Mutation_p.L402P|HNF1A_uc021rfc.1_Non-coding_Transcript	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	530					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACCACCAACCTGAGCGCCCTG	0.687000									Hepatic Adenoma, Familial Clustering of					55			44		0	0	0.014410	0	0
JSRP1	126306	broad.mit.edu	37	19	2255343	2255343	+	Splice_Site	SNP	G	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr19:2255343G>A	uc002lvj.2	-	2	42	c.-29_splice	c.e2-1			NM_144616	NP_653217	Q96MG2	JSPR1_HUMAN	Homo sapiens junctional sarcoplasmic reticulum protein 1 (JSRP1), mRNA.							sarcoplasmic reticulum membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAGGCCAGGCTGGGAGGGG	0.647000														9			8		0	0	0.003080	0	0
VPS13B	157680	broad.mit.edu	37	8	100514063	100514063	+	Missense_Mutation	SNP	C	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr8:100514063C>T	uc003yiv.3	+	25	4130	c.4019C>T	c.(4018-4020)cCa>cTa	p.P1340L	VPS13B_uc003yiw.3_Missense_Mutation_p.P1340L|VPS13B_uc003yiu.1_Missense_Mutation_p.P1340L|VPS13B_uc003yix.1_Missense_Mutation_p.P810L	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1340					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTCTTTGCTCCAGATCCTGAA	0.483000														77			48		0	0	0.014410	0	0
CNTN2	6900	broad.mit.edu	37	1	205028742	205028742	+	Silent	SNP	C	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr1:205028742C>A	uc001hbr.3	+	6	998	c.729C>A	c.(727-729)gcC>gcA	p.A243A	CNTN2_uc001hbq.1_Silent_p.A134A|CNTN2_uc009xbi.3_Silent_p.A134A|CNTN2_uc001hbs.3_Silent_p.A31A	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	243	Ig-like C2-type 3.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCATCAAGGCCCGGTTCCCAG	0.582000														75			44		5.85753e-14	6.35817e-14	0.014410	1	0
FAM208B	54906	broad.mit.edu	37	10	5788364	5788364	+	Missense_Mutation	SNP	T	C	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr10:5788364T>C	uc001iij.3	+	14	3605	c.2980T>C	c.(2980-2982)Tct>Cct	p.S994P	FAM208B_uc001iik.3_Intron	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	Homo sapiens family with sequence similarity 208, member B (FAM208B), mRNA.	994																	ATGTCAGAGCTCTGTGTACGG	0.483000														55			48		0	0	0.014410	0	0
NCAM1	4684	broad.mit.edu	37	11	113078684	113078684	+	Missense_Mutation	SNP	G	C	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr11:113078684G>C	uc021qqp.1	+	6	1242	c.870G>C	c.(868-870)aaG>aaC	p.K290N	NCAM1_uc001pno.3_Missense_Mutation_p.K174N|NCAM1_uc001pnp.3_Missense_Mutation_p.K290N|NCAM1_uc021qqo.1_Missense_Mutation_p.K290N|NCAM1_uc001pnq.3_Missense_Mutation_p.K290N|NCAM1_uc001pnr.3_Missense_Mutation_p.K290N	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	292	Ig-like C2-type 3.				axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CTGAGAACAAGGCTGGCGAGC	0.532000														9			6		0	0	0.001168	0	0
ATG9A	79065	broad.mit.edu	37	2	220090289	220090289	+	Missense_Mutation	SNP	A	C	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr2:220090289A>C	uc002vke.1	-	5	404	c.218T>G	c.(217-219)tTc>tGc	p.F73C	ATG9A_uc002vkd.1_Non-coding_Transcript|ATG9A_uc002vkf.1_Missense_Mutation_p.F73C	NM_001077198	NP_076990	Q7Z3C6	ATG9A_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog A (S. cerevisiae) (ATG9A), transcript variant 1, mRNA.	73					autophagic vacuole assembly|protein transport	Golgi apparatus|autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACAAAGAGGAACTGCCTGGG	0.532000														35			21		0	0	0.008871	0	0
SPECC1L	23384	broad.mit.edu	37	22	24734414	24734414	+	Missense_Mutation	SNP	C	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr22:24734414C>T	uc002zzw.3	+	9	2924	c.2621C>T	c.(2620-2622)aCc>aTc	p.T874I	SPECC1L_uc002zzv.4_Missense_Mutation_p.T874I|SPECC1L_uc011ajq.2_Missense_Mutation_p.T874I|SPECC1L_uc021wne.1_Non-coding_Transcript	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1-like (SPECC1L), transcript variant 1, mRNA.	874					cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						CCTATGAAAACCCCTCCTGCA	0.498000														113			70		0	0	0.014410	0	0
MCM6	4175	broad.mit.edu	37	2	136620201	136620201	+	Missense_Mutation	SNP	C	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr2:136620201C>A	uc002tuw.3	-	7	1272	c.1196G>T	c.(1195-1197)aGt>aTt	p.S399I		NM_005915	NP_005906	Q14566	MCM6_HUMAN	Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	399	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	CTTAGCTGTACTTGGGTCACC	0.488000														82			63		1.15062e-32	1.30472e-32	0.014410	1	0
SIM1	6492	broad.mit.edu	37	6	100895187	100895187	+	Missense_Mutation	SNP	A	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr6:100895187A>T	uc003pqj.4	-	7	1422	c.955T>A	c.(955-957)Tcc>Acc	p.S319T	SIM1_uc021zdg.1_Missense_Mutation_p.S319T|SIM1_uc010kcu.3_Missense_Mutation_p.S319T	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	319	PAC.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGCCTGGAGGAGCGACTGTTG	0.597000														33			20		0	0	0.010504	0	0
AK300121	0	broad.mit.edu	37	12	52649876	52649876	+	Missense_Mutation	SNP	C	A	A	rs12302416	by1000genomes	TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr12:52649876C>A	uc010snr.1	-	1	369	c.21G>T	c.(19-21)agG>agT	p.R7S	KRT86_uc010snq.2_Intron					SubName: Full=cDNA FLJ60029, highly similar to Keratin, type II cuticular Hb3;																		CTGAGGCCAGCCTCCCACTGT	0.547000														101			5		5.9392e-07	6.08289e-07	0.001168	1	0
TBCA	6902	broad.mit.edu	37	5	76987260	76987260	+	Missense_Mutation	SNP	C	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr5:76987260C>A	uc003kfh.1	-	3	414	c.310G>T	c.(310-312)Gtg>Ttg	p.V104L	TBCA_uc003kfi.1_3'UTR	NM_004607	NP_004598	O75347	TBCA_HUMAN	Homo sapiens tubulin folding cofactor A (TBCA), mRNA.	104					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway|tubulin complex assembly	cytoplasm|microtubule	chaperone binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_lung(232;0.000511)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.02e-49)|Epithelial(54;1.05e-44)|all cancers(79;4.08e-40)		TCTAACTTCACTGAATCCAGT	0.333000														17			10		0.00829132	0.00842398	0.008291	1	0
DNAH6	1768	broad.mit.edu	37	2	84777109	84777109	+	Silent	SNP	A	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr2:84777109A>T	uc010fgb.3	+	8	1550	c.1413A>T	c.(1411-1413)ctA>ctT	p.L471L	DNAH6_uc002soo.3_Silent_p.L50L|DNAH6_uc002sop.3_Silent_p.L50L	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	471	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CTGACAAGCTAAAACGAACAC	0.358000														35			22		0	0	0.016522	0	0
SPHKAP	80309	broad.mit.edu	37	2	228860230	228860230	+	Silent	SNP	G	C	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr2:228860230G>C	uc002vpq.2	-	7	4676	c.4629C>G	c.(4627-4629)tcC>tcG	p.S1543S	SPHKAP_uc002vpp.2_Silent_p.S1543S|SPHKAP_uc010zlx.1_Intron	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1543						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGTACCTCATGGATCGCTCAC	0.483000														141			88		0	0	0.014410	0	0
RUFY2	55680	broad.mit.edu	37	10	70152944	70152944	+	Missense_Mutation	SNP	C	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr10:70152944C>T	uc001job.3	-	6	1033	c.706G>A	c.(706-708)Gcc>Acc	p.A236T	RUFY2_uc001jnz.1_Non-coding_Transcript|RUFY2_uc001joc.3_Missense_Mutation_p.A167T|RUFY2_uc010qiw.2_Missense_Mutation_p.A143T|RUFY2_uc001jod.1_Missense_Mutation_p.A201T|RUFY2_uc009xpv.1_Missense_Mutation_p.A84T	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN	Homo sapiens RUN and FYVE domain containing 2 (RUFY2), transcript variant 1, mRNA.	250						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TCTAATATGGCAGCAATTTGA	0.264000														12			3		0	0	0.004672	0	0
PDE1C	5137	broad.mit.edu	37	7	31877507	31877507	+	Silent	SNP	C	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr7:31877507C>T	uc003tcm.2	-	9	1520	c.1059G>A	c.(1057-1059)aaG>aaA	p.K353K	PDE1C_uc003tcn.1_Silent_p.K353K|PDE1C_uc003tco.2_Silent_p.K413K|PDE1C_uc003tcr.3_Silent_p.K353K|PDE1C_uc003tcs.3_Silent_p.K353K	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	353	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GCAGAGCAGTCTTCATTGCTT	0.433000														204			149		0	0	0.014410	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56789065	56789065	+	Missense_Mutation	SNP	T	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr3:56789065T>A	uc003dih.2	-	5	525	c.415A>T	c.(415-417)Acc>Tcc	p.T139S	ARHGEF3_uc011bew.1_Missense_Mutation_p.T107S|ARHGEF3_uc011bev.1_Missense_Mutation_p.T78S|ARHGEF3_uc003dif.2_Missense_Mutation_p.T113S|ARHGEF3_uc003dig.2_Missense_Mutation_p.T107S|ARHGEF3_uc010hmy.1_5'UTR|ARHGEF3_uc003dii.2_Missense_Mutation_p.T107S	NM_001128615	NP_001122087	Q9NR81	ARHG3_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 3 (ARHGEF3), transcript variant 1, mRNA.	107	DH.				Rho protein signal transduction|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		ACATCGAAGGTCTCACTCCAC	0.587000														89			79		0	0	0.014410	0	0
LCE1F	353137	broad.mit.edu	37	1	152748940	152748940	+	Silent	SNP	A	T	T	rs137888629		TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr1:152748940A>T	uc010pdv.2	+	0	93	c.93A>T	c.(91-93)ccA>ccT	p.P31P		NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	Homo sapiens late cornified envelope 1F (LCE1F), mRNA.	31	Pro-rich.				keratinization			p.P30P(1)		kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			agtgccccccaaagtgtcccc	0.662000														110			6		0	0	0.001984	0	0
MAEL	84944	broad.mit.edu	37	1	166974561	166974561	+	Missense_Mutation	SNP	C	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr1:166974561C>A	uc001gdy.1	+	7	843	c.772C>A	c.(772-774)Ctc>Atc	p.L258I	MAEL_uc021peh.1_Missense_Mutation_p.L202I|MAEL_uc001gdz.1_Missense_Mutation_p.L227I|MAEL_uc009wvf.1_Non-coding_Transcript	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	258					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						ACAAAAATTTCTCAAGGAGCC	0.398000														31			26		1.42536e-11	1.52118e-11	0.004656	1	0
AHR	196	broad.mit.edu	37	7	17362177	17362177	+	Missense_Mutation	SNP	A	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr7:17362177A>T	uc011jxz.1	+	2	919	c.306A>T	c.(304-306)agA>agT	p.R102S		NM_001621	NP_001612	P35869	AHR_HUMAN	Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.	102					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					ATAACTGTAGAGCAGCAAATT	0.333000														46			37		0	0	0.010771	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43953471	43953471	+	Missense_Mutation	SNP	G	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr2:43953471G>T	uc010yny.2	+	16	2685	c.2602G>T	c.(2602-2604)Gat>Tat	p.D868Y	PLEKHH2_uc002rtf.3_Missense_Mutation_p.D867Y	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	868	PH 2.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CAGATCTTGTGATTCAGATGA	0.388000														43			25		7.88262e-20	8.85923e-20	0.018920	1	0
SYNE2	23224	broad.mit.edu	37	14	64596614	64596614	+	Missense_Mutation	SNP	T	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr14:64596614T>A	uc001xgl.3	+	74	14364	c.14134T>A	c.(14134-14136)Tta>Ata	p.L4712I	SYNE2_uc001xgm.3_Missense_Mutation_p.L4712I|SYNE2_uc021ruh.1_Missense_Mutation_p.L4629I|SYNE2_uc010apy.3_Missense_Mutation_p.L1097I|SYNE2_uc010apz.1_Missense_Mutation_p.L604I	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	4712					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGTTTACAAATTAGAGGTATG	0.458000														27			24		0	0	0.018920	0	0
MCM6	4175	broad.mit.edu	37	2	136620202	136620202	+	Missense_Mutation	SNP	T	G	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr2:136620202T>G	uc002tuw.3	-	7	1271	c.1195A>C	c.(1195-1197)Agt>Cgt	p.S399R		NM_005915	NP_005906	Q14566	MCM6_HUMAN	Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	399	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TTAGCTGTACTTGGGTCACCA	0.488000														82			65		0	0	0.014410	0	0
GGT1	2678	broad.mit.edu	37	22	25023938	25023938	+	Missense_Mutation	SNP	T	C	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr22:25023938T>C	uc003aan.1	+	12	1815	c.1328T>C	c.(1327-1329)aTc>aCc	p.I443T	GGT1_uc003aas.1_Missense_Mutation_p.I443T|GGT1_uc003aat.1_Missense_Mutation_p.I443T|GGT1_uc003aau.2_Missense_Mutation_p.I443T|GGT1_uc003aav.2_Missense_Mutation_p.I443T|GGT1_uc003aaw.2_Missense_Mutation_p.I443T|GGT1_uc003aax.2_Missense_Mutation_p.I443T|GGT1_uc003aay.1_Missense_Mutation_p.I99T	NM_013430	NP_038347	P19440	GGT1_HUMAN	Homo sapiens gamma-glutamyltransferase 1 (GGT1), transcript variant 3, mRNA.	443					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	GCCAATTTCATCCAGCCAGGT	0.617000														40			40		0	0	0.008740	0	0
SEPHS2	22928	broad.mit.edu	37	16	30456715	30456715	+	Missense_Mutation	SNP	A	G	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr16:30456715A>G	uc021tgl.1	-	0	510	c.334T>C	c.(334-336)Ttt>Ctt	p.F112L	SEPHS2_uc002dyh.1_Missense_Mutation_p.F55L	NM_012248		Q99611	SPS2_HUMAN	Homo sapiens selenophosphate synthetase 2 (SEPHS2), mRNA.	112					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						AGGGCTGGAAAGGTGGGGCTG	0.711000														15			19		0	0	0.006122	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561688	145561688	+	Missense_Mutation	SNP	A	G	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr1:145561688A>G	uc001eob.1	+	9	1484	c.1376A>G	c.(1375-1377)cAg>cGg	p.Q459R	ANKRD35_uc010oyx.1_Missense_Mutation_p.Q302R	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	459										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CATGCTGACCAGCTGCCTGCT	0.592000														60			47		0	0	0.010771	0	0
KIF3C	3797	broad.mit.edu	37	2	26178417	26178417	+	Missense_Mutation	SNP	A	C	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr2:26178417A>C	uc002rgu.2	-	2	2420	c.1763T>G	c.(1762-1764)cTc>cGc	p.L588R	KIF3C_uc010eyj.1_Non-coding_Transcript|KIF3C_uc010ykr.1_Missense_Mutation_p.L588R	NM_002254	NP_002245	O14782	KIF3C_HUMAN	Homo sapiens kinesin family member 3C (KIF3C), mRNA.	588					blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTTCTTGAGTTTCTTGGT	0.587000														80			60		0	0	0.014410	0	0
C14orf37	145407	broad.mit.edu	37	14	58563683	58563683	+	Missense_Mutation	SNP	C	G	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr14:58563683C>G	uc010tro.2	-	5	2160	c.1962G>C	c.(1960-1962)gaG>gaC	p.E654D	C14orf37_uc001xdc.3_Missense_Mutation_p.E616D|C14orf37_uc001xdd.3_Missense_Mutation_p.E616D	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.	616						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						cctcttcatcctcatcttctt	0.398000														27			26		0	0	0.018920	0	0
CDH8	1006	broad.mit.edu	37	16	61851550	61851550	+	Silent	SNP	C	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr16:61851550C>T	uc002eog.2	-	6	2065	c.1110G>A	c.(1108-1110)ggG>ggA	p.G370G	CDH8_uc002eoh.3_Silent_p.G139G	NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	370	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R369M(2)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CTTTAAAGGGCCCCCTGCCAC	0.468000														36			35		0	0	0.021022	0	0
LRRC8C	84230	broad.mit.edu	37	1	90180228	90180228	+	Missense_Mutation	SNP	C	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr1:90180228C>A	uc001dnl.4	+	2	2341	c.2099C>A	c.(2098-2100)cCt>cAt	p.P700H		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member C (LRRC8C), mRNA.	700						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TTTATCCCCCCTGAAATTGGA	0.383000														42			28		4.7796e-09	5.01661e-09	0.004656	1	0
DDI2	84301	broad.mit.edu	37	1	15956839	15956839	+	Silent	SNP	C	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr1:15956839C>T	uc001awx.2	+	2	501	c.288C>T	c.(286-288)ttC>ttT	p.F96F	DDI2_uc001aww.3_Silent_p.F96F|RSC1A1_uc009voj.2_5'UTR	NM_032341	NP_115717	Q5TDH0	DDI2_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 2 (S. cerevisiae) (DDI2), mRNA.	96					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GAATAGATTTCAGTAGTATAG	0.463000														59			57		0	0	0.014410	0	0
ESD	2098	broad.mit.edu	37	13	47354151	47354151	+	Silent	SNP	A	G	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr13:47354151A>G	uc001vbn.3	-	7	702	c.519T>C	c.(517-519)gcT>gcC	p.A173A	ESD_uc001vbp.1_Silent_p.A31A	NM_001984	NP_001975	P10768	ESTD_HUMAN	Homo sapiens esterase D (ESD), mRNA.	173						cytoplasmic membrane-bounded vesicle	S-formylglutathione hydrolase activity|carboxylesterase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	TGCAAATTGGAGCAAATGCTG	0.333000														49			36		0	0	0.006230	0	0
CAMK1	8536	broad.mit.edu	37	3	9802445	9802445	+	Missense_Mutation	SNP	C	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr3:9802445C>T	uc003bst.3	-	7	825	c.640G>A	c.(640-642)Ggt>Agt	p.G214S	OGG1_uc003bsl.3_Intron|OGG1_uc003bsk.3_Intron|OGG1_uc003bsm.3_Intron|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|CAMK1_uc003bss.3_5'Flank|AX748417_uc003bsv.1_Non-coding_Transcript	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase I (CAMK1), mRNA.	214	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.G214S(2)		endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		GGAGGGTAACCGCAGAGCCTG	0.552000														23			20		0	0	0.007413	0	0
MAP2K4	6416	broad.mit.edu	37	17	12016635	12016635	+	Silent	SNP	T	C	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr17:12016635T>C	uc002gnj.3	+	6	840	c.771T>C	c.(769-771)tcT>tcC	p.S257S	MAP2K4_uc002gnk.3_Silent_p.S268S|MAP2K4_uc010vvi.2_Silent_p.S139S|MAP2K4_uc010vvj.2_Silent_p.S129S	NM_003010	NP_003001	P45985	MP2K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 4 (MAP2K4), mRNA.	257	Protein kinase.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		TTGTGGACTCTATTGCCAAGA	0.453000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""									48			86		0	0	0.014410	0	0
OR2L8	391190	broad.mit.edu	37	1	248112473	248112473	+	Missense_Mutation	SNP	C	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr1:248112473C>T	uc001idt.1	+	0	314	c.314C>T	c.(313-315)gCa>gTa	p.A105V	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TTCTTCTTGGCATTAGGAGGT	0.433000														225			128		0	0	0.014410	0	0
IL7R	3575	broad.mit.edu	37	5	35876145	35876145	+	Missense_Mutation	SNP	G	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr5:35876145G>T	uc003jjs.3	+	7	1026	c.937G>T	c.(937-939)Gac>Tac	p.D313Y	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	313					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TAGGGTGGATGACATTCAAGC	0.438000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							46			32		3.99451e-17	4.41133e-17	0.009535	1	0
PCLO	27445	broad.mit.edu	37	7	82579067	82579067	+	Missense_Mutation	SNP	C	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr7:82579067C>A	uc003uhx.2	-	5	11126	c.10837G>T	c.(10837-10839)Gct>Tct	p.A3613S	PCLO_uc003uhv.2_Missense_Mutation_p.A3613S|PCLO_uc010lec.3_Missense_Mutation_p.A578S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3544					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGGAAGGAGCCAGCTGTACT	0.483000														96			115		1.38358e-46	1.58301e-46	0.014410	1	0
RBM12B	389677	broad.mit.edu	37	8	94747484	94747484	+	Silent	SNP	A	G	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr8:94747484A>G	uc022aye.1	-	0	1155	c.1155T>C	c.(1153-1155)caT>caC	p.H385H	RBM12B_uc003yfz.3_Silent_p.H385H	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	385							RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TTTGTGAAACATGTCCGGGCC	0.368000														120			83		0	0	0.014410	0	0
API5	8539	broad.mit.edu	37	11	43342441	43342441	+	Missense_Mutation	SNP	T	C	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr11:43342441T>C	uc010rfh.1	+	2	475	c.302T>C	c.(301-303)aTa>aCa	p.I101T	API5_uc001mxf.2_Missense_Mutation_p.I101T|API5_uc010rfg.1_Missense_Mutation_p.I90T|API5_uc010rfi.1_Missense_Mutation_p.I47T|API5_uc021qgi.1_Missense_Mutation_p.I101T|API5_uc001mxg.3_5'UTR	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN	Homo sapiens apoptosis inhibitor 5 (API5), transcript variant 1, mRNA.	101					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						GTGGCAGATATACTAACGCAA	0.343000														45			38		0	0	0.006230	0	0
PCF11	51585	broad.mit.edu	37	11	82877727	82877727	+	Silent	SNP	A	G	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr11:82877727A>G	uc001ozx.4	+	4	2133	c.1788A>G	c.(1786-1788)agA>agG	p.R596R	PCF11_uc010rsu.1_Silent_p.R596R	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	596					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CTGCCAAAAGATGGAAATCTG	0.343000														61			55		0	0	0.014410	0	0
C3orf71	646450	broad.mit.edu	37	3	48956091	48956091	+	Silent	SNP	T	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr3:48956091T>A	uc010hkk.1	-	0	728	c.492A>T	c.(490-492)ccA>ccT	p.P164P	ARIH2_uc003cvb.3_5'Flank|ARIH2_uc003cvc.3_5'Flank	NM_001123040	NP_001116512	Q8N7S6	CC071_HUMAN	Homo sapiens chromosome 3 open reading frame 71 (C3orf71), mRNA.	164						integral to membrane				breast(1)|endometrium(2)|lung(1)|urinary_tract(1)	5						CGGGAGACGCTGGTAGGCGAA	0.587000														22			29		0	0	0.008361	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	86162	86162	+	RNA	SNP	T	C	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chrGL000211.1:86162T>C	uc003bnz.1	+	5		c.910T>C			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		TTGAGAATGTTAATGGATACA	0.443000														14			3		0	0	0.009096	0	0
DROSHA	29102	broad.mit.edu	37	5	31526783	31526783	+	Missense_Mutation	SNP	G	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr5:31526783G>T	uc003jhg.2	-	3	616	c.257C>A	c.(256-258)cCt>cAt	p.P86H	DROSHA_uc003jhh.2_Missense_Mutation_p.P86H|DROSHA_uc003jhi.2_Missense_Mutation_p.P86H|DROSHA_uc010iui.1_Missense_Mutation_p.P77H	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA.	86	Pro-rich.				RNA processing|gene silencing by RNA|ribosome biogenesis	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CGCTGACGGAGGCATGGGTGG	0.592000														20			19		2.4624e-09	2.60604e-09	0.008871	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5235155	5235155	+	Missense_Mutation	SNP	G	C	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr5:5235155G>C	uc003jdl.3	+	12	2017	c.1879G>C	c.(1879-1881)Ggc>Cgc	p.G627R	ADAMTS16_uc003jdk.1_Missense_Mutation_p.G627R|ADAMTS16_uc010itk.1_Non-coding_Transcript	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	627	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GTTCTGTGAGGGCTCCACTCG	0.443000														40			28		0	0	0.010818	0	0
ST8SIA2	8128	broad.mit.edu	37	15	93007607	93007607	+	Missense_Mutation	SNP	G	A	A	rs144679464	byFrequency	TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr15:93007607G>A	uc002bra.3	+	5	1275	c.1120G>A	c.(1120-1122)Gcc>Acc	p.A374T	ST8SIA2_uc002brb.3_Missense_Mutation_p.A353T	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 (ST8SIA2), mRNA.	374					N-glycan processing|axon guidance|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			GTGCGATGGGGCCACGTAGGG	0.592000														48			35		0	0	0.013726	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140223201	140223201	+	Silent	SNP	G	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr5:140223201G>A	uc003lhs.2	+	0	2295	c.2295G>A	c.(2293-2295)ccG>ccA	p.P765P	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Silent_p.P765P	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	802					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGGCCACCGAAGACGGACC	0.592000														7			27		0	0	0.006320	0	0
TAF1B	9014	broad.mit.edu	37	2	10051000	10051000	+	Missense_Mutation	SNP	T	C	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr2:10051000T>C	uc002qzz.3	+	9	1191	c.1091T>C	c.(1090-1092)gTg>gCg	p.V364A	TAF1B_uc010exc.2_Missense_Mutation_p.V364A|TAF1B_uc002qzy.4_Missense_Mutation_p.V364A|TAF1B_uc010yja.2_Missense_Mutation_p.V109A|TAF1B_uc010exd.3_Missense_Mutation_p.V109A	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa (TAF1B), mRNA.	364					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATCATTGTGGTGGTATTGAAA	0.358000														38			20		0	0	0.004656	0	0
SLC9A3	6550	broad.mit.edu	37	5	476140	476140	+	Missense_Mutation	SNP	T	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr5:476140T>A	uc003jbe.2	-	13	2247	c.2135A>T	c.(2134-2136)gAg>gTg	p.E712V	SLC9A3_uc011clx.1_Missense_Mutation_p.E703V|BC013821_uc011cly.2_5'Flank	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA.	712						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CGCACCTTTCTCCTTGATGGT	0.642000														12			7		0	0	0.001984	0	0
MDN1	23195	broad.mit.edu	37	6	90426453	90426453	+	Missense_Mutation	SNP	C	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr6:90426453C>T	uc003pnn.1	-	43	6775	c.6659G>A	c.(6658-6660)gGc>gAc	p.G2220D		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	2220					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCAAATGTGCCATGGCTATG	0.473000														55			34		0	0	0.015359	0	0
PIDD	55367	broad.mit.edu	37	11	803185	803185	+	Missense_Mutation	SNP	G	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr11:803185G>T	uc001lro.2	-	2	845	c.698C>A	c.(697-699)cCa>cAa	p.P233Q	PIDD_uc009yck.1_5'Flank|PIDD_uc001lrl.1_Missense_Mutation_p.P87Q|PIDD_uc001lrm.1_5'UTR|PIDD_uc001lrn.2_Missense_Mutation_p.P87Q|PIDD_uc001lrk.2_Missense_Mutation_p.P233Q|PIDD_uc001lrp.2_5'UTR	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	Homo sapiens p53-induced death domain protein (PIDD), transcript variant 1, mRNA.	233					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										CAGAGAGGCTGGGAGGCTCTG	0.657000														19			20		2.21704e-12	2.38613e-12	0.016522	1	0
TTC8	123016	broad.mit.edu	37	14	89307438	89307438	+	Missense_Mutation	SNP	T	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr14:89307438T>A	uc010ath.3	+	3	491	c.357T>A	c.(355-357)agT>agA	p.S119R	TTC8_uc010atg.1_Non-coding_Transcript|TTC8_uc001xxi.3_Missense_Mutation_p.S129R|TTC8_uc001xxj.3_Missense_Mutation_p.S119R|TTC8_uc001xxk.3_Missense_Mutation_p.S119R|TTC8_uc001xxl.3_5'UTR|TTC8_uc010ati.3_5'UTR|TTC8_uc010atj.3_Intron	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN	Homo sapiens tetratricopeptide repeat domain 8 (TTC8), transcript variant 2, mRNA.	129					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GCACGCAGAGTGGAAGGCCAG	0.498000														61			48		0	0	0.014410	0	0
DHX16	8449	broad.mit.edu	37	6	30640464	30640464	+	Missense_Mutation	SNP	G	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr6:30640464G>T	uc003nqz.3	-	0	367	c.155C>A	c.(154-156)aCc>aAc	p.T52N	DHX16_uc011dmo.2_Intron	NM_003587	NP_003578	O60231	DHX16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA.	52					RNA splicing|mRNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			kidney(2)|ovary(2)	4						GAGATCCAAGGTATCAGTGTC	0.647000														37			20		8.04996e-18	8.96793e-18	0.012319	1	0
C3AR1	719	broad.mit.edu	37	12	8211578	8211578	+	Missense_Mutation	SNP	G	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr12:8211578G>A	uc001qtv.1	-	1	1296	c.1204C>T	c.(1204-1206)Ctt>Ttt	p.L402F	C3AR1_uc021quj.1_Missense_Mutation_p.L402F	NM_004054	NP_004045	Q16581	C3AR_HUMAN	Homo sapiens complement component 3a receptor 1 (C3AR1), mRNA.	402					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			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		GGGTCAGTAAGCAATGACAGG	0.483000														53			7		0	0	0.003080	0	0
MET	4233	broad.mit.edu	37	7	116422117	116422117	+	Missense_Mutation	SNP	T	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr7:116422117T>A	uc003vij.3	+	17	3785	c.3598T>A	c.(3598-3600)Ttt>Att	p.F1200I	MET_uc010lkh.3_Missense_Mutation_p.F1218I|MET_uc011knj.2_Missense_Mutation_p.F770I	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	1200	Protein kinase.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.F1218V(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AAGCAAAAAGTTTGTCCACAG	0.393000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					35			26		0	0	0.006320	0	0
RBM15	64783	broad.mit.edu	37	1	110882978	110882978	+	Silent	SNP	T	C	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr1:110882978T>C	uc001dzl.1	+	0	1034	c.951T>C	c.(949-951)ccT>ccC	p.P317P	RBM15_uc001dzm.1_Silent_p.P317P|LOC440600_uc001dzj.3_5'Flank|RBM15_uc021orn.1_Silent_p.P317P	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	Homo sapiens RNA binding motif protein 15 (RBM15), transcript variant 1, mRNA.	317					interspecies interaction between organisms	nucleus	RNA binding|nucleotide binding|protein binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCCTGCCCCCTCCACCTCCGC	0.607000			T	MKL1	acute megakaryocytic leukemia									53			41		0	0	0.011902	0	0
RNF13	11342	broad.mit.edu	37	3	149678575	149678575	+	Missense_Mutation	SNP	C	G	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr3:149678575C>G	uc003exn.4	+	10	1614	c.830C>G	c.(829-831)aCc>aGc	p.T277S	RNF13_uc003exp.4_Missense_Mutation_p.T277S|RNF13_uc010hvh.3_Missense_Mutation_p.T158S	NM_007282	NP_899237	O43567	RNF13_HUMAN	Homo sapiens ring finger protein 13 (RNF13), transcript variant 1, mRNA.	277					protein autoubiquitination	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ACCAAAAAAACCTGTCCAGTG	0.398000														38			23		0	0	0.014323	0	0
GALNTL6	442117	broad.mit.edu	37	4	173269759	173269759	+	Missense_Mutation	SNP	C	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr4:173269759C>T	uc003isv.3	+	4	1208	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA.	158	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TTCACTCCTGCGGACCATACA	0.428000														75			78		0	0	0.014410	0	0
CHKB	1120	broad.mit.edu	37	22	51018475	51018475	+	Silent	SNP	A	C	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr22:51018475A>C	uc003bmv.3	-	7	1073	c.855T>G	c.(853-855)gtT>gtG	p.V285V	CPT1B_uc003bmk.4_5'Flank|CPT1B_uc003bmm.3_5'Flank|CPT1B_uc003bml.3_5'Flank|CPT1B_uc003bmo.3_5'Flank|CPT1B_uc011asa.2_5'Flank|CPT1B_uc003bmn.3_5'Flank|CPT1B_uc011asb.2_5'Flank|CPT1B_uc003bmp.3_5'Flank|CPT1B_uc021wsc.1_Non-coding_Transcript|CHKB_uc003bmt.2_Silent_p.V76V|CHKB_uc003bmu.3_Silent_p.V164V|LOC100144603_uc003bmw.4_5'Flank	NM_005198	NP_005189	Q9Y259	CHKB_HUMAN	Homo sapiens choline kinase beta (CHKB), mRNA.	285					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	TATAATCATAAACCCACTCAC	0.522000														73			48		0	0	0.014410	0	0
C1QL3	389941	broad.mit.edu	37	10	16556595	16556595	+	Missense_Mutation	SNP	C	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr10:16556595C>T	uc001ioj.1	-	1	1640	c.700G>A	c.(700-702)Ggg>Agg	p.G234R		NM_001010908	NP_001010908	Q5VWW1	C1QL3_HUMAN	Homo sapiens complement component 1, q subcomponent-like 3 (C1QL3), mRNA.	234	C1q.					collagen		p.G234W(2)|p.G233G(1)		breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TGGGCTTTCCCGCCATCTAAT	0.393000														57			39		0	0	0.007835	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103438368	103438368	+	Missense_Mutation	SNP	T	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr14:103438368T>A	uc001ymi.1	-	12	2004	c.1772A>T	c.(1771-1773)aAg>aTg	p.K591M		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	591					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CACCTTCTGCTTCTGGGCACG	0.617000														64			54		0	0	0.014410	0	0
MUC2	4583	broad.mit.edu	37	11	1097183	1097183	+	Splice_Site	SNP	T	G	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr11:1097183T>G	uc001lsx.1	+	37	6613	c.6586_splice	c.e37-1	p.V2196_splice		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4562						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CGGCCACAGGTGCAGGTGAAC	0.627000														26			19		0	0	0.008871	0	0
PDE9A	5152	broad.mit.edu	37	21	44152003	44152003	+	Missense_Mutation	SNP	A	G	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr21:44152003A>G	uc002zbm.3	+	4	449	c.386A>G	c.(385-387)gAg>gGg	p.E129G	PDE9A_uc002zbn.3_Intron|PDE9A_uc002zbo.3_Intron|PDE9A_uc002zbp.3_5'UTR|PDE9A_uc002zbq.3_Intron|PDE9A_uc002zbs.3_Intron|PDE9A_uc002zbr.3_Intron|PDE9A_uc002zbt.3_Intron|PDE9A_uc002zbu.3_Intron|PDE9A_uc002zbv.3_Intron|PDE9A_uc002zbw.3_Intron|PDE9A_uc002zbx.3_Intron|PDE9A_uc002zby.3_Intron|PDE9A_uc002zbz.3_Intron|PDE9A_uc002zca.3_Missense_Mutation_p.E88G|PDE9A_uc002zcb.3_Missense_Mutation_p.E103G|PDE9A_uc002zcc.3_Intron|PDE9A_uc002zcd.3_Intron|PDE9A_uc002zce.3_Missense_Mutation_p.E62G|PDE9A_uc002zcf.3_5'UTR|PDE9A_uc002zcg.3_Intron	NM_002606	NP_001001585	O76083	PDE9A_HUMAN	Homo sapiens phosphodiesterase 9A (PDE9A), transcript variant 1, mRNA.	129					platelet activation|signal transduction	Golgi apparatus|cytosol|endoplasmic reticulum|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						GGACAGGTAGAGCCCAGGCCC	0.652000														22			24		0	0	0.018920	0	0
GABRA2	2555	broad.mit.edu	37	4	46312218	46312218	+	Silent	SNP	A	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr4:46312218A>T	uc011bzc.1	-	4	778	c.366T>A	c.(364-366)gcT>gcA	p.A122A	GABRA2_uc003gxc.3_Silent_p.A177A|GABRA2_uc010igc.2_Silent_p.A177A|GABRA2_uc003gxe.3_Silent_p.A177A			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	177					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GACATGAATGAGCATCCATTG	0.388000														57			45		0	0	0.014410	0	0
HIST2H2BF	440689	broad.mit.edu	37	1	149398786	149398786	+	RNA	SNP	C	T	T	rs141080814	by1000genomes	TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr1:149398786C>T	uc010pbi.1	-	0		c.444G>A						Q5QNW6	H2B2F_HUMAN	Homo sapiens histone cluster 2, H3, pseudogene 2, mRNA (cDNA clone IMAGE:5190019).						nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					TCTATTGCGTCCCTTGCACAC	0.552000														37			4		0	0	0.001168	0	0
KIAA0284	283638	broad.mit.edu	37	14	105353612	105353612	+	Missense_Mutation	SNP	T	G	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr14:105353612T>G	uc001yps.3	+	10	3132	c.2826T>G	c.(2824-2826)caT>caG	p.H942Q	KIAA0284_uc010axb.3_Missense_Mutation_p.H942Q|KIAA0284_uc001ypt.3_5'Flank	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.	1012						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		AGAGGCAGCATCACCCACTTG	0.687000														20			12		0	0	0.013537	0	0
LPIN1	23175	broad.mit.edu	37	2	11960560	11960560	+	Silent	SNP	A	G	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr2:11960560A>G	uc010yjm.2	+	20	2741	c.2688A>G	c.(2686-2688)gtA>gtG	p.V896V	LPIN1_uc010yjn.2_Silent_p.V811V|LPIN1_uc002rbt.3_Silent_p.V811V|LPIN1_uc010yjo.2_Silent_p.V312V	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	811					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		ACAAGCAAGTAGGAGTGTCTT	0.348000														36			25		0	0	0.021523	0	0
RUFY2	55680	broad.mit.edu	37	10	70152941	70152941	+	Missense_Mutation	SNP	T	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr10:70152941T>A	uc001job.3	-	6	1036	c.709A>T	c.(709-711)Ata>Tta	p.I237L	RUFY2_uc001jnz.1_Non-coding_Transcript|RUFY2_uc001joc.3_Missense_Mutation_p.I168L|RUFY2_uc010qiw.2_Missense_Mutation_p.I144L|RUFY2_uc001jod.1_Missense_Mutation_p.I202L|RUFY2_uc009xpv.1_Missense_Mutation_p.I85L	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN	Homo sapiens RUN and FYVE domain containing 2 (RUFY2), transcript variant 1, mRNA.	251						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TGGTCTAATATGGCAGCAATT	0.264000														12			3		0	0	0.004672	0	0
SNPH	9751	broad.mit.edu	37	20	1286555	1286555	+	Missense_Mutation	SNP	C	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr20:1286555C>T	uc002wet.3	+	6	2155	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W	SNPH_uc002wes.3_Missense_Mutation_p.R448W	NM_014723	NP_055538	O15079	SNPH_HUMAN	Homo sapiens syntaphilin (SNPH), mRNA.	448					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CCGCTCCCAGCGGCGCCAGGG	0.672000														5			6		0	0	0.001984	0	0
HNRNPUL2	221092	broad.mit.edu	37	11	62488862	62488862	+	Missense_Mutation	SNP	T	C	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr11:62488862T>C	uc001nuw.3	-	8	1745	c.1516A>G	c.(1516-1518)Aaa>Gaa	p.K506E	HNRNPUL2_uc001nuu.2_Non-coding_Transcript	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 2 (HNRNPUL2), mRNA.	506					cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TCTCGGCTTTTGGGGTCCATC	0.428000														105			75		0	0	0.014410	0	0
ALDH2	217	broad.mit.edu	37	12	112227694	112227694	+	Missense_Mutation	SNP	T	C	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr12:112227694T>C	uc001tst.3	+	4	604	c.508T>C	c.(508-510)Tac>Cac	p.Y170H	ALDH2_uc010syi.2_Missense_Mutation_p.Y123H	NM_000690	NP_000681	P05091	ALDH2_HUMAN	Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	170					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	CTTCTTCAGCTACACACGCCA	0.527000			T	HMGA2	leiomyoma									31			19		0	0	0.008871	0	0
FAM86FP	653113	broad.mit.edu	37	12	8387026	8387026	+	RNA	SNP	G	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr12:8387026G>A	uc010sgk.2	-	3		c.430C>T								Homo sapiens family with sequence similarity 86, member F, pseudogene (FAM86FP), non-coding RNA.																		GCACGTCTACGGTGAAAGCTT	0.597000														25			3		0	0	0.004672	0	0
PANK3	79646	broad.mit.edu	37	5	167995656	167995656	+	Missense_Mutation	SNP	G	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr5:167995656G>A	uc003lzz.2	-	1	702	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C		NM_024594	NP_078870	Q9H999	PANK3_HUMAN	Homo sapiens pantothenate kinase 3 (PANK3), mRNA.	126					coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity	p.R126C(2)		NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		CCTACTGTGCGAAAATCTTTT	0.373000														56			35		0	0	0.013726	0	0
NAGLU	4669	broad.mit.edu	37	17	40695935	40695935	+	Silent	SNP	C	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr17:40695935C>T	uc002hzv.3	+	5	2251	c.1911C>T	c.(1909-1911)ttC>ttT	p.F637F		NM_000263	NP_000254	P54802	ANAG_HUMAN	Homo sapiens N-acetylglucosaminidase, alpha (NAGLU), mRNA.	637						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	AGGCCGATTTCTACGAGCAGA	0.627000														9			8		0	0	0.006214	0	0
AHCTF1	25909	broad.mit.edu	37	1	247070995	247070995	+	Missense_Mutation	SNP	C	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr1:247070995C>T	uc001ibv.2	-	4	746	c.649G>A	c.(649-651)Ggg>Agg	p.G217R		NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	208	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AGATGGCGCCCTTGTCTCATT	0.383000														61			49		0	0	0.014410	0	0
PPIC	5480	broad.mit.edu	37	5	122359696	122359696	+	Silent	SNP	T	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr5:122359696T>A	uc003kth.3	-	4	618	c.513A>T	c.(511-513)acA>acT	p.T171T		NM_000943	NP_000934	P45877	PPIC_HUMAN	Homo sapiens peptidylprolyl isomerase C (cyclophilin C) (PPIC), mRNA.	171	PPIase cyclophilin-type.				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	AGTGCACCACTGTCTGGTGAG	0.478000														98			66		0	0	0.014410	0	0
ANKRD11	29123	broad.mit.edu	37	16	89346757	89346757	+	Missense_Mutation	SNP	A	G	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr16:89346757A>G	uc002fmx.1	-	8	6654	c.6193T>C	c.(6193-6195)Ttc>Ctc	p.F2065L	ANKRD11_uc002fmy.1_Missense_Mutation_p.F2065L|ANKRD11_uc002fnc.1_Missense_Mutation_p.F2065L|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.F2022L	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	2065	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTGCTGAAGAAGGACTCCAGC	0.706000														37			3		0	0	0.004672	0	0
CATSPER2	117155	broad.mit.edu	37	15	43928412	43928412	+	Missense_Mutation	SNP	A	G	G			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr15:43928412A>G	uc001zsh.3	-	7	1063	c.848T>C	c.(847-849)cTc>cCc	p.L283P	CATSPER2_uc010bdm.3_Non-coding_Transcript|CATSPER2_uc001zsi.3_Missense_Mutation_p.L283P|CATSPER2_uc001zsj.3_Missense_Mutation_p.L283P|AX748052_uc021ska.1_5'Flank	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN	Homo sapiens cation channel, sperm associated 2 (CATSPER2), transcript variant 2, mRNA.	283					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GGAATTCGGGAGGTCCCTAAA	0.413000														29			19		0	0	0.016522	0	0
OR11G2	390439	broad.mit.edu	37	14	20666034	20666034	+	Silent	SNP	C	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr14:20666034C>T	uc010tlb.2	+	0	540	c.540C>T	c.(538-540)acC>acT	p.T180T		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GTCTCTGTACCAATCTTGTGG	0.448000														59			31		0	0	0.013726	0	0
LARP1	23367	broad.mit.edu	37	5	154183178	154183178	+	Missense_Mutation	SNP	T	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr5:154183178T>A	uc003lvo.3	+	12	2105	c.2081T>A	c.(2080-2082)gTc>gAc	p.V694D	LARP1_uc021ygh.1_Missense_Mutation_p.V566D|LARP1_uc021ygi.1_Missense_Mutation_p.V771D|LARP1_uc010jie.1_Missense_Mutation_p.V566D	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	771							RNA binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCAACCACTGTCCCAGAGTCA	0.582000														30			26		0	0	0.004656	0	0
BRCA2	675	broad.mit.edu	37	13	32907353	32907353	+	Missense_Mutation	SNP	A	C	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr13:32907353A>C	uc001uub.1	+	9	1965	c.1738A>C	c.(1738-1740)Ata>Cta	p.I580L	BRCA2_uc001uua.1_Missense_Mutation_p.I457L	NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	580					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TGCAGGTTTAATATCCACTTT	0.338000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				44			47		0	0	0.010771	0	0
IREB2	3658	broad.mit.edu	37	15	78755356	78755356	+	Missense_Mutation	SNP	T	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr15:78755356T>A	uc002bdr.2	+	2	361	c.199T>A	c.(199-201)Tta>Ata	p.L67I	IREB2_uc010unb.1_5'UTR|IREB2_uc002bdq.3_Missense_Mutation_p.L67I	NM_004136	NP_004127	P48200	IREB2_HUMAN	Homo sapiens iron-responsive element binding protein 2 (IREB2), mRNA.	67							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TATGAACATTTTAGACTGGAA	0.378000														94			66		0	0	0.014410	0	0
LSM12	124801	broad.mit.edu	37	17	42117589	42117589	+	Silent	SNP	C	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr17:42117589C>T	uc002iev.3	-	3	617	c.294G>A	c.(292-294)aaG>aaA	p.K98K	LSM12_uc010wit.2_Intron|LSM12_uc002iew.1_Non-coding_Transcript	NM_152344	NP_689557	Q3MHD2	LSM12_HUMAN	Homo sapiens LSM12 homolog (S. cerevisiae) (LSM12), mRNA.	98							protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	6		Breast(137;0.0313)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCTGGCTCAGCTTCTCCTCCT	0.517000														23			33		0	0	0.019004	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140811805	140811805	+	Silent	SNP	G	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr5:140811805G>A	uc003lkt.2	+	0	1648	c.1479G>A	c.(1477-1479)gaG>gaA	p.E493E	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Silent_p.E493E	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	495	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTGGCTGAGAACACCATCC	0.557000														44			34		0	0	0.010818	0	0
ESPL1	9700	broad.mit.edu	37	12	53687232	53687232	+	Missense_Mutation	SNP	T	C	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr12:53687232T>C	uc001sck.2	+	30	6428	c.6337T>C	c.(6337-6339)Tat>Cat	p.Y2113H	ESPL1_uc001scj.2_Missense_Mutation_p.Y1788H|PFDN5_uc001scl.3_5'Flank|PFDN5_uc001scm.3_5'Flank|PFDN5_uc001scn.3_5'Flank|PFDN5_uc001sco.3_5'Flank	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	2113					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ACCTATAGCCTATGGCTTGCC	0.527000														41			36		0	0	0.008740	0	0
NEO1	4756	broad.mit.edu	37	15	73590713	73590713	+	Missense_Mutation	SNP	C	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr15:73590713C>T	uc002avm.4	+	26	4118	c.3926C>T	c.(3925-3927)aCt>aTt	p.T1309I	NEO1_uc010ukx.2_Missense_Mutation_p.T1298I|NEO1_uc010uky.2_Missense_Mutation_p.T1256I|NEO1_uc002avn.4_Missense_Mutation_p.T1302I|NEO1_uc010ukz.2_Missense_Mutation_p.T722I	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	1309					axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						ACCCCCAGCACTGACACCATG	0.483000														30			33		0	0	0.009535	0	0
LSM14B	149986	broad.mit.edu	37	20	60705292	60705292	+	Missense_Mutation	SNP	G	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr20:60705292G>A	uc010gjy.1	+	4	819	c.613G>A	c.(613-615)Gct>Act	p.A205T	LSM14B_uc010gjx.1_Missense_Mutation_p.A231T|LSM14B_uc010gjz.1_Missense_Mutation_p.A161T|LSM14B_uc010zzz.1_Missense_Mutation_p.A125T	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	Homo sapiens LSM14B, SCD6 homolog B (S. cerevisiae) (LSM14B), mRNA.	205					multicellular organismal development|regulation of translation	ribonucleoprotein complex				endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CCAGCCGGCAGCTGTGCAAGC	0.567000														6			5		0	0	0.014758	0	0
DOPEY2	9980	broad.mit.edu	37	21	37626086	37626086	+	Missense_Mutation	SNP	G	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr21:37626086G>A	uc002yvg.3	+	22	5217	c.5138G>A	c.(5137-5139)aGt>aAt	p.S1713N	DOPEY2_uc011aeb.2_Missense_Mutation_p.S1662N|DOPEY2_uc002yvh.3_Missense_Mutation_p.S564N	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	1713					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCAACGGCAAGTGCATCCCAG	0.468000														81			60		0	0	0.014410	0	0
LPIN1	23175	broad.mit.edu	37	2	11960558	11960558	+	Missense_Mutation	SNP	G	C	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr2:11960558G>C	uc010yjm.2	+	20	2739	c.2686G>C	c.(2686-2688)Gta>Cta	p.V896L	LPIN1_uc010yjn.2_Missense_Mutation_p.V811L|LPIN1_uc002rbt.3_Missense_Mutation_p.V811L|LPIN1_uc010yjo.2_Missense_Mutation_p.V312L	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	811					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		ATACAAGCAAGTAGGAGTGTC	0.348000														37			24		0	0	0.018920	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40675	40675	+	Silent	SNP	G	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chrGL000218.1:40675G>A	uc011mfn.2	-	2	344	c.255C>T	c.(253-255)gaC>gaT	p.D85D	LOC100233156_uc003jah.2_Silent_p.D85D					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		TGTGCCGCACGTCCTCCAGTT	0.662000														8			4		0	0	0.014758	0	0
DHX16	8449	broad.mit.edu	37	6	30640454	30640454	+	Silent	SNP	G	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr6:30640454G>T	uc003nqz.3	-	0	377	c.165C>A	c.(163-165)ctC>ctA	p.L55L	DHX16_uc011dmo.2_Intron	NM_003587	NP_003578	O60231	DHX16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA.	55					RNA splicing|mRNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			kidney(2)|ovary(2)	4						CCGGCCCACTGAGATCCAAGG	0.652000														32			22		9.95505e-16	1.08991e-15	0.014323	1	0
OR8I2	120586	broad.mit.edu	37	11	55861616	55861616	+	Missense_Mutation	SNP	C	T	T	rs140206966	byFrequency	TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr11:55861616C>T	uc010rix.2	+	0	833	c.833C>T	c.(832-834)aCg>aTg	p.T278M		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T278M(2)|p.T278T(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GTATTCTATACGATTGTCATT	0.408000														77			4		0	0	0.003080	0	0
BRWD1	54014	broad.mit.edu	37	21	40641908	40641908	+	Missense_Mutation	SNP	T	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr21:40641908T>A	uc002yxk.2	-	14	1742	c.1447A>T	c.(1447-1449)Att>Ttt	p.I483F	BRWD1_uc021wjf.1_Missense_Mutation_p.I483F|BRWD1_uc010goe.1_Non-coding_Transcript|BRWD1_uc010gof.1_5'UTR|BRWD1_uc010gog.1_Non-coding_Transcript|BRWD1_uc010goh.1_Non-coding_Transcript|BRWD1_uc010goi.1_Missense_Mutation_p.I203F	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GATAACATAATTCTGGAATCA	0.333000														20			23		0	0	0.018920	0	0
CDT1	81620	broad.mit.edu	37	16	88872437	88872437	+	Missense_Mutation	SNP	G	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr16:88872437G>A	uc002flu.3	+	5	895	c.841G>A	c.(841-843)Gga>Aga	p.G281R		NM_030928	NP_112190	Q9H211	CDT1_HUMAN	Homo sapiens chromatin licensing and DNA replication factor 1 (CDT1), mRNA.	281					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		AGAGGCTGACGGAGCAGCCCC	0.672000														6			4		0	0	0.014758	0	0
CHRNB3	1142	broad.mit.edu	37	8	42565553	42565553	+	Missense_Mutation	SNP	G	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr8:42565553G>A	uc003xpi.1	+	2	353	c.225G>A	c.(223-225)atG>atA	p.M75I		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	75					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ATCAGCTGATGACAACCAATG	0.313000														12			18		0	0	0.008871	0	0
MSH4	4438	broad.mit.edu	37	1	76269502	76269502	+	Missense_Mutation	SNP	G	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr1:76269502G>A	uc001dhd.2	+	1	446	c.331G>A	c.(331-333)Gat>Aat	p.D111N		NM_002440	NP_002431	O15457	MSH4_HUMAN	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.	111					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TTCTGCACGAGATACTAATTA	0.363000								Mismatch excision repair (MMR)						48			47		0	0	0.014410	0	0
ATP8B2	57198	broad.mit.edu	37	1	154314963	154314968	+	In_Frame_Del	DEL	GTTTGA	-	-			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr1:154314963_154314968delGTTTGA	uc001fex.3	+	13	1350_1355	c.1350_1355delGTTTGA	c.(1348-1356)gtgtttgac>gtc	p.FD451del		NM_020452	NP_065185	P98198	AT8B2_HUMAN	Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA.	437					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TAGGTGATGTGTTTGACGTCCTGGGA	0.490													---	54	---	---	13	---					
MBOAT2	129642	broad.mit.edu	37	2	9002791	9002791	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr2:9002791delA	uc002qzg.1	-	10	1247	c.1114delT	c.(1114-1116)tggfs	p.W372fs	MBOAT2_uc010yix.1_Frame_Shift_Del_p.W372fs	NM_138799	NP_620154	Q6ZWT7	MBOA2_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 2 (MBOAT2), mRNA.	372					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACCCCGTGCCAAATGGCAGAG	0.408													---	47	---	---	39	---					
RBKS	64080	broad.mit.edu	37	2	28004505	28004506	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr2:28004505_28004506insT	uc002rlo.1	-	7	956_957	c.945_946insA	c.(943-948)aaagacfs	p.K315fs	RBKS_uc010ezi.1_Frame_Shift_Ins_p.K248fs	NM_022128	NP_071411	Q9H477	RBSK_HUMAN	Homo sapiens ribokinase (RBKS), mRNA.	315					D-ribose metabolic process		ATP binding|ribokinase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					AGCGGAAGGTCTTTTTTGTAAG	0.421													---	92	---	---	42	---					
HOXD8	3234	broad.mit.edu	37	2	176995325	176995341	+	Frame_Shift_Del	DEL	GCCCTCCGGGACTGGGT	-	-			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr2:176995325_176995341delGCCCTCCGGGACTGGGT	uc002uko.3	+	0	858_874	c.231_247delGCCCTCCGGGACTGGGT	c.(229-249)ccgccctccgggactgggtgcfs	p.P77fs	AX747372_uc002ukl.1_5'Flank|AX747372_uc002ukm.1_5'Flank|HOXD8_uc002ukn.3_Intron|HOXD8_uc002ukp.3_Frame_Shift_Del_p.P77fs	NM_019558	NP_062458	P13378	HXD8_HUMAN	Homo sapiens homeobox D8 (HOXD8), transcript variant 1, mRNA.	77					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		CGTCCCCGCCGCCCTCCGGGACTGGGTGCGGCGGTAG	0.788													---	10	---	---	6	---					
TNF	7124	broad.mit.edu	37	6	31545047	31545049	+	In_Frame_Del	DEL	CCC	-	-			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr6:31545047_31545049delCCC	uc003nui.3	+	3	604_606	c.435_437delCCC	c.(433-438)tgcccc>tgc	p.P146del	TNF_uc003nuj.3_5'UTR	NM_000594	NP_000585	P01375	TNFA_HUMAN	Homo sapiens tumor necrosis factor (TNF), mRNA.	146					activation of MAPK activity|activation of MAPKKK activity|activation of caspase activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding	p.P146L(1)		large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)	GCCAAGGCTGCCCCTCCACCCAT	0.611									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				---	78	---	---	42	---					
DAXX	1616	broad.mit.edu	37	6	33287821	33287822	+	Frame_Shift_Ins	INS	-	A	A	rs145347312		TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr6:33287821_33287822insA	uc003oec.3	-	4	1635_1636	c.1431_1432insT	c.(1429-1434)gatgaafs	p.D477fs	ZBTB22_uc003oeb.3_5'Flank|ZBTB22_uc010juu.3_5'Flank|DAXX_uc021ywn.1_Frame_Shift_Ins_p.D477fs|DAXX_uc021ywo.1_Frame_Shift_Ins_p.D477fs|DAXX_uc011dre.2_Frame_Shift_Ins_p.D489fs|DAXX_uc003oed.3_Frame_Shift_Ins_p.D477fs|DAXX_uc011drd.2_Frame_Shift_Ins_p.D402fs	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	477	Asp/Glu-rich (acidic).|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	PML body|chromosome, centromeric region|cytosol|nucleolus	androgen receptor binding|heat shock protein binding|p53 binding|protein N-terminus binding|protein homodimerization activity|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						tcctcctcttcatcatcctcct	0.505			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								---	13	---	---	10	---					
REV3L	5980	broad.mit.edu	37	6	111695488	111695488	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr6:111695488delT	uc003puy.4	-	12	4411	c.4070delA	c.(4069-4071)aatfs	p.N1357fs	REV3L_uc003pux.4_Frame_Shift_Del_p.N1279fs|REV3L_uc003puz.4_Frame_Shift_Del_p.N1279fs	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	1357					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GTCAAATATATTTTTTTGAAT	0.308								DNA polymerases (catalytic subunits)					---	82	---	---	52	---					
CTTNBP2	83992	broad.mit.edu	37	7	117431390	117431391	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr7:117431390_117431391insC	uc003vjf.3	-	3	1951_1952	c.1859_1860insG	c.(1858-1860)actfs	p.T620fs		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	620										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CAGGTGCCACAGTTAAATCTAT	0.559													---	49	---	---	55	---					
ITGB1	3688	broad.mit.edu	37	10	33201013	33201013	+	Frame_Shift_Del	DEL	G	-	-			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr10:33201013delG	uc001iws.4	-	11	1645	c.1509delC	c.(1507-1509)agcfs	p.S503fs	ITGB1_uc001iwr.4_Frame_Shift_Del_p.S503fs|ITGB1_uc001iwt.4_Frame_Shift_Del_p.S503fs	NM_133376	NP_596867	P05556	ITB1_HUMAN	Homo sapiens integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) (ITGB1), transcript variant 1E, mRNA.	503	Cysteine-rich tandem repeats.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				CTTCATCTGTGCTGCATTCAC	0.413													---	55	---	---	41	---					
TPP1	1200	broad.mit.edu	37	11	6638089	6638089	+	Splice_Site	DEL	A	-	-			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr11:6638089delA	uc001mel.1	-	7	749	c.688_splice	c.e7-1	p.F230_splice	TPP1_uc001mek.1_Splice_Site	NM_000391	NP_000382	O14773	TPP1_HUMAN	Homo sapiens tripeptidyl peptidase I (TPP1), mRNA.	230					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		CTGCTCCAGGAACTATGGAGG	0.567													---	50	---	---	54	---					
DUSP6	1848	broad.mit.edu	37	12	89743102	89743107	+	In_Frame_Del	DEL	CTGGAA	-	-			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr12:89743102_89743107delCTGGAA	uc001tay.3	-	2	1550_1555	c.1070_1075delTTCCAG	c.(1069-1077)gttccagca>gca	p.VP357del	DUSP6_uc001taz.3_In_Frame_Del_p.VP211del	NM_001946	NP_001937	Q16828	DUS6_HUMAN	Homo sapiens dual specificity phosphatase 6 (DUSP6), transcript variant 1, mRNA.	357	Tyrosine-protein phosphatase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						AGCTGCTGTGCTGGAACCCTGTTGTC	0.500													---	90	---	---	41	---					
MIS18BP1	55320	broad.mit.edu	37	14	45693722	45693722	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr14:45693722delT	uc001wwf.3	-	10	2527	c.2068delA	c.(2068-2070)agtfs	p.S690fs		NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	Homo sapiens MIS18 binding protein 1 (MIS18BP1), mRNA.	690					CenH3-containing nucleosome assembly at centromere|cell division|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						CTGATGGGACTTTTTTTTTGA	0.373													---	150	---	---	7	---					
SRCAP	10847	broad.mit.edu	37	16	30733503	30733503	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr16:30733503delC	uc002dze.1	+	21	3987	c.3602delC	c.(3601-3603)gcafs	p.A1201fs	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Frame_Shift_Del_p.A1058fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1201	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GTGGCTAATGCAGGGGGAAGC	0.577													---	66	---	---	33	---					
SUPT6H	6830	broad.mit.edu	37	17	27001303	27001305	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr17:27001303_27001305delGAG	uc010crt.3	+	3	304_306	c.112_114delGAG	c.(112-114)gagdel	p.E43del	SUPT6H_uc002hby.3_In_Frame_Del_p.E43del	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	43	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity	p.E42D(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TCTTCCAGATGAGGAGGAGGAGG	0.453													---	78	---	---	7	---					
CD97	976	broad.mit.edu	37	19	14518917	14518918	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	d5a2fa8f-8c51-4867-b806-5f49d4b33c1a	g.chr19:14518917_14518918insA	uc002myl.3	+	19	2872_2873	c.2492_2493insA	c.(2491-2493)tcafs	p.S831fs	CD97_uc002mym.3_Frame_Shift_Ins_p.S782fs|CD97_uc002myn.3_Frame_Shift_Ins_p.S738fs	NM_078481	NP_510966	P48960	CD97_HUMAN	Homo sapiens CD97 molecule (CD97), transcript variant 1, mRNA.	831					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTCAGGGCATCAGAGTCCGGCA	0.663													---	30	---	---	18	---					
ATP8B2	57198	broad.mit.edu	37	1	154314963	154314968	+	In_Frame_Del	DEL	GTTTGA	-	-			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr1:154314963_154314968delGTTTGA	uc001fex.3	+	13	1350_1355	c.1350_1355delGTTTGA	c.(1348-1356)gtgtttgac>gtc	p.FD451del		NM_020452	NP_065185	P98198	AT8B2_HUMAN	Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA.	437					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TAGGTGATGTGTTTGACGTCCTGGGA	0.490													---	54	---	---	13	---					
HOXD8	3234	broad.mit.edu	37	2	176995325	176995341	+	Frame_Shift_Del	DEL	GCCCTCCGGGACTGGGT	-	-			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr2:176995325_176995341delGCCCTCCGGGACTGGGT	uc002uko.3	+	0	858_874	c.231_247delGCCCTCCGGGACTGGGT	c.(229-249)ccgccctccgggactgggtgcfs	p.P77fs	AX747372_uc002ukl.1_5'Flank|AX747372_uc002ukm.1_5'Flank|HOXD8_uc002ukn.3_Intron|HOXD8_uc002ukp.3_Frame_Shift_Del_p.P77fs	NM_019558	NP_062458	P13378	HXD8_HUMAN	Homo sapiens homeobox D8 (HOXD8), transcript variant 1, mRNA.	77					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		CGTCCCCGCCGCCCTCCGGGACTGGGTGCGGCGGTAG	0.788													---	10	---	---	6	---					
ALPP	250	broad.mit.edu	37	2	233243529	233243531	+	In_Frame_Del	DEL	TGC	-	-			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr2:233243529_233243531delTGC	uc002vsq.3	+	0	182_184	c.17_19delTGC	c.(16-21)atgctg>atg	p.L13del		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	13						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGGCCCTGCAtgctgctgctgct	0.616													---	58	---	---	7	---					
DAXX	1616	broad.mit.edu	37	6	33287821	33287822	+	Frame_Shift_Ins	INS	-	A	A	rs145347312		TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr6:33287821_33287822insA	uc003oec.3	-	4	1635_1636	c.1431_1432insT	c.(1429-1434)gatgaafs	p.D477fs	ZBTB22_uc003oeb.3_5'Flank|ZBTB22_uc010juu.3_5'Flank|DAXX_uc021ywn.1_Frame_Shift_Ins_p.D477fs|DAXX_uc021ywo.1_Frame_Shift_Ins_p.D477fs|DAXX_uc011dre.2_Frame_Shift_Ins_p.D489fs|DAXX_uc003oed.3_Frame_Shift_Ins_p.D477fs|DAXX_uc011drd.2_Frame_Shift_Ins_p.D402fs	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	477	Asp/Glu-rich (acidic).|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	PML body|chromosome, centromeric region|cytosol|nucleolus	androgen receptor binding|heat shock protein binding|p53 binding|protein N-terminus binding|protein homodimerization activity|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						tcctcctcttcatcatcctcct	0.505			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								---	13	---	---	10	---					
CTTNBP2	83992	broad.mit.edu	37	7	117431390	117431391	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr7:117431390_117431391insC	uc003vjf.3	-	3	1951_1952	c.1859_1860insG	c.(1858-1860)actfs	p.T620fs		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	620										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CAGGTGCCACAGTTAAATCTAT	0.559													---	49	---	---	55	---					
ITGB1	3688	broad.mit.edu	37	10	33201013	33201013	+	Frame_Shift_Del	DEL	G	-	-			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr10:33201013delG	uc001iws.4	-	11	1645	c.1509delC	c.(1507-1509)agcfs	p.S503fs	ITGB1_uc001iwr.4_Frame_Shift_Del_p.S503fs|ITGB1_uc001iwt.4_Frame_Shift_Del_p.S503fs	NM_133376	NP_596867	P05556	ITB1_HUMAN	Homo sapiens integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) (ITGB1), transcript variant 1E, mRNA.	503	Cysteine-rich tandem repeats.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				CTTCATCTGTGCTGCATTCAC	0.413													---	55	---	---	41	---					
TPP1	1200	broad.mit.edu	37	11	6638089	6638089	+	Splice_Site	DEL	A	-	-			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr11:6638089delA	uc001mel.1	-	7	749	c.688_splice	c.e7-1	p.F230_splice	TPP1_uc001mek.1_Splice_Site	NM_000391	NP_000382	O14773	TPP1_HUMAN	Homo sapiens tripeptidyl peptidase I (TPP1), mRNA.	230					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		CTGCTCCAGGAACTATGGAGG	0.567													---	50	---	---	54	---					
DUSP6	1848	broad.mit.edu	37	12	89743102	89743107	+	In_Frame_Del	DEL	CTGGAA	-	-			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr12:89743102_89743107delCTGGAA	uc001tay.3	-	2	1550_1555	c.1070_1075delTTCCAG	c.(1069-1077)gttccagca>gca	p.VP357del	DUSP6_uc001taz.3_In_Frame_Del_p.VP211del	NM_001946	NP_001937	Q16828	DUS6_HUMAN	Homo sapiens dual specificity phosphatase 6 (DUSP6), transcript variant 1, mRNA.	357	Tyrosine-protein phosphatase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						AGCTGCTGTGCTGGAACCCTGTTGTC	0.500													---	90	---	---	41	---					
SRCAP	10847	broad.mit.edu	37	16	30733503	30733503	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr16:30733503delC	uc002dze.1	+	21	3987	c.3602delC	c.(3601-3603)gcafs	p.A1201fs	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Frame_Shift_Del_p.A1058fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1201	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GTGGCTAATGCAGGGGGAAGC	0.577													---	66	---	---	33	---					
CD97	976	broad.mit.edu	37	19	14518917	14518918	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IZ-8196-01A-11D-2396-08	TCGA-IZ-8196-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dccd5469-1539-42f2-9023-47320e9e4275	f329e026-3d72-4724-8757-1d3724d37f51	g.chr19:14518917_14518918insA	uc002myl.3	+	19	2872_2873	c.2492_2493insA	c.(2491-2493)tcafs	p.S831fs	CD97_uc002mym.3_Frame_Shift_Ins_p.S782fs|CD97_uc002myn.3_Frame_Shift_Ins_p.S738fs	NM_078481	NP_510966	P48960	CD97_HUMAN	Homo sapiens CD97 molecule (CD97), transcript variant 1, mRNA.	831					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTCAGGGCATCAGAGTCCGGCA	0.663													---	30	---	---	18	---					
