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
CNTNAP3	79937	broad.mit.edu	37	9	39171442	39171442	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr9:39171442G>A	uc004abi.3	-	7	1496	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F	CNTNAP3_uc004abj.3_Silent_p.F419F|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Silent_p.F419F|CNTNAP3_uc011lqs.1_Silent_p.F419F	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	419	Laminin G-like 2.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GAAAGAGGACGAAACTCCCTG	0.483000														16			47		0	0	0.000680045	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763665	77763665	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr8:77763665G>A	uc003yau.2	+	9	4895	c.4508G>A	c.(4507-4509)gGa>gAa	p.G1503E	ZFHX4_uc003yaw.1_Missense_Mutation_p.G1458E	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1458						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGTCCTGTAGGAAGTGATAGT	0.473000										HNSCC(33;0.089)				22			15		0	0	0.000422831	0	0
SNAPC1	6617	broad.mit.edu	37	14	62233671	62233671	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr14:62233671C>T	uc001xft.3	+	1	310	c.206C>T	c.(205-207)cCa>cTa	p.P69L		NM_003082	NP_003073	Q16533	SNPC1_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 1, 43kDa (SNAPC1), mRNA.	69	SNAPC3-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		TTTTTACCTCCATACACCTTC	0.333000														26			23		0	0	0.000375601	0	0
C2orf77	129881	broad.mit.edu	37	2	170537668	170537668	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:170537668G>A	uc002ufe.2	-	1	237	c.143C>T	c.(142-144)aCc>aTc	p.T48I		NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN	Homo sapiens chromosome 2 open reading frame 77 (C2orf77), mRNA.	48										endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|urinary_tract(2)	23						TGGAATTATGGTGACCTGCTG	0.388000														36			42		0	0	0.000319135	0	0
FARP1	10160	broad.mit.edu	37	13	99042343	99042343	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr13:99042343C>T	uc001vnh.3	+	9	1227	c.988C>T	c.(988-990)Ctc>Ttc	p.L330F	FARP1_uc001vnj.3_Missense_Mutation_p.L330F	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	330					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CAAGCCCGTCCTCTTTAGCCG	0.527000														32			61		0	0	0.000781405	0	0
KIAA0947	23379	broad.mit.edu	37	5	5461345	5461345	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:5461345C>T	uc003jdm.4	+	12	2120	c.1898C>T	c.(1897-1899)tCt>tTt	p.S633F		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	633										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TTTTCTTCCTCTTCTACCTTG	0.413000														65			26		0	0	0.000586117	0	0
TRPC5	7224	broad.mit.edu	37	X	111090482	111090482	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chrX:111090482G>A	uc004epl.1	-	5	2479	c.1560C>T	c.(1558-1560)ttC>ttT	p.F520F	TRPC5_uc004epm.1_Silent_p.F520F	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	520					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGATAAAGAGGAATTTGAGGA	0.443000														23			57		0	0	0.000781405	0	0
DAAM2	23500	broad.mit.edu	37	6	39847123	39847123	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr6:39847123C>T	uc003oow.3	+	13	1854	c.1715C>T	c.(1714-1716)cCa>cTa	p.P572L	DAAM2_uc010jxc.3_Missense_Mutation_p.P572L|DAAM2_uc003oox.3_Missense_Mutation_p.P572L	NM_001201427	NP_001188356	Q86T65	DAAM2_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 2 (DAAM2), transcript variant 1, mRNA.	572	FH1.|Pro-rich.				actin cytoskeleton organization		Rho GTPase binding|actin binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCAGGTGCCCCACCTTGCCTC	0.692000														4			14		0	0	0.000219431	0	0
RIMS2	9699	broad.mit.edu	37	8	104709373	104709373	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr8:104709373C>T	uc003ylp.3	+	1	375	c.236C>T	c.(235-237)tCa>tTa	p.S79L		NM_001100117	NP_001093587	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 1, mRNA.	110	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGAGAAGAATCACAGCAACAG	0.403000										HNSCC(12;0.0054)				31			29		0	0	0.000878237	0	0
DSC1	1823	broad.mit.edu	37	18	28728506	28728506	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr18:28728506C>T	uc002kwn.3	-	5	989	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	DSC1_uc002kwm.3_Missense_Mutation_p.E243K	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	243	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ACTCTGTGTTCAAAATATGGG	0.378000														76			49		0	0	0.000781405	0	0
ASAP3	55616	broad.mit.edu	37	1	23758191	23758191	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:23758191G>A	uc001bha.2	-	22	2668	c.2544C>T	c.(2542-2544)ttC>ttT	p.F848F	ASAP3_uc001bgy.1_Silent_p.F352F|ASAP3_uc010odz.1_Silent_p.F738F|ASAP3_uc010oea.1_Silent_p.F839F	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 (ASAP3), transcript variant 1, mRNA.	848					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						TCACCAACCTGAATCTGACGG	0.577000														49			42		0	0	0.000781405	0	0
CSMD2	114784	broad.mit.edu	37	1	34068144	34068144	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:34068144G>A	uc001bxm.1	-	42	6712	c.6535C>T	c.(6535-6537)Cct>Tct	p.P2179S	CSMD2_uc001bxn.1_Missense_Mutation_p.P2181S|CSMD2_uc001bxo.1_Missense_Mutation_p.P1052S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2181	Sushi 12.					integral to membrane|plasma membrane	protein binding	p.P2181S(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCGCCACAAGGGACTGCCAGG	0.572000														3			3		0	0	0.000157383	0	0
PRB3	5544	broad.mit.edu	37	12	11422549	11422550	+	Silent	DNP	AG	GA	GA			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:11422549_11422550AG>GA	uc001qzs.3	-	0	92_93	c.54_55CT>TC	c.(52-57)agctta>agTCta	p.18_19SL>SL	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	18						extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CCTTCATTTAAGCTCTGAGCTG	0.515000														30			4		0	0	6.4e-05	0	0
PKHD1	5314	broad.mit.edu	37	6	51936946	51936946	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr6:51936946G>A	uc003pah.1	-	7	845	c.569C>T	c.(568-570)cCt>cTt	p.P190L	PKHD1_uc003pai.3_Missense_Mutation_p.P190L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	190	IPT/TIG 2.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAGAGAGCAAGGAGTAACCCA	0.393000														11			28		0	0	0.000339439	0	0
LMTK2	22853	broad.mit.edu	37	7	97821158	97821158	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:97821158G>A	uc003upd.2	+	10	1674	c.1381G>A	c.(1381-1383)Gaa>Aaa	p.E461K		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	461					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGAAATGGAGGAAGTCCTCAC	0.592000														25			18		0	0	0.000132079	0	0
GALNT9	50614	broad.mit.edu	37	12	132682434	132682434	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:132682434G>A	uc001ukc.4	-	9	1684	c.1568C>T	c.(1567-1569)tCc>tTc	p.S523F	GALNT9_uc009zyr.3_Missense_Mutation_p.S297F|GALNT9_uc001ukb.3_Missense_Mutation_p.S380F|GALNT9_uc001uka.3_Missense_Mutation_p.S157F	NM_001122636	NP_001116108	Q9HCQ5	GALT9_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9) (GALNT9), transcript variant A, mRNA.	523	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CAGACACTTGGAGTCAGGCAA	0.647000														5			11		0	0	0.000308642	0	0
DNAH9	1770	broad.mit.edu	37	17	11511573	11511573	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:11511573G>A	uc002gne.3	+	1	613	c.545G>A	c.(544-546)gGa>gAa	p.G182E	DNAH9_uc002gnd.1_Missense_Mutation_p.G182E	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	182	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAAGTGAAGGGAAAAACTTTG	0.507000														97			72		0	0	0.000781405	0	0
OR51F2	119694	broad.mit.edu	37	11	4842967	4842967	+	Silent	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:4842967C>T	uc010qyn.2	+	0	352	c.352C>T	c.(352-354)Cta>Tta	p.L118L		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATGTTCTTTCTACACGGATT	0.473000														45			72		0	0	0.000781405	0	0
TRMT2B	79979	broad.mit.edu	37	X	100292923	100292924	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chrX:100292923_100292924GG>TT	uc004egt.3	-	4	833_834	c.420_421CC>AA	c.(418-423)ctccat>ctAAat	p.H141N	TRMT2B_uc004egu.3_Missense_Mutation_p.H22N|TRMT2B_uc004egr.3_Missense_Mutation_p.H141N|TRMT2B_uc004egv.3_Intron|TRMT2B_uc004egq.3_Missense_Mutation_p.H141N|TRMT2B_uc004egs.3_Missense_Mutation_p.H141N	NM_001167970	NP_079193	Q96GJ1	TRM2_HUMAN	Homo sapiens TRM2 tRNA methyltransferase 2 homolog B (S. cerevisiae) (TRMT2B), transcript variant 2, mRNA.	141							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						ATAATAGGATGGAGAAGACAAG	0.416000														243			7		0	0	6.4e-05	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33616147	33616147	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:33616147C>T	uc003jia.1	-	14	2337	c.2174G>A	c.(2173-2175)gGa>gAa	p.G725E	ADAMTS12_uc010iuq.1_Missense_Mutation_p.G640E	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	725	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GTCCCTTGCTCCTTTTGGAAT	0.438000										HNSCC(64;0.19)				20			20		0	0	0.000958276	0	0
OR2A2	442361	broad.mit.edu	37	7	143807350	143807350	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:143807350G>A	uc011ktz.2	+	0	675	c.675G>A	c.(673-675)ctG>ctA	p.L225L		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GGGCCATCCTGAAGATCCAGA	0.512000														63			52		0	0	0.000781405	0	0
PI4KA	5297	broad.mit.edu	37	22	21066865	21066865	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr22:21066865G>A	uc002zsz.4	-	49	5798	c.5537C>T	c.(5536-5538)tCc>tTc	p.S1846F	PI4KA_uc002zsy.4_Missense_Mutation_p.S656F	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	1846	PI3K/PI4K.				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CTGGTCCCGGGAGGTGCAGTC	0.652000														13			9		0	0	0.00010058	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73175217	73175217	+	Silent	SNP	T	C	C			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr4:73175217T>C	uc003hgk.2	-	14	2113	c.2076A>G	c.(2074-2076)gaA>gaG	p.E692E	ADAMTS3_uc003hgl.3_Silent_p.E33E	NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	692	Cys-rich.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TAGAACCAATTTCTTTATCAC	0.453000														45			32		0	0	0.000692331	0	0
AKR7A3	22977	broad.mit.edu	37	1	19612767	19612767	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:19612767G>A	uc001bbv.1	-	1	391	c.314C>T	c.(313-315)cCc>cTc	p.P105L		NM_012067	NP_036199	O95154	ARK73_HUMAN	Homo sapiens aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) (AKR7A3), mRNA.	105					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTCCACTCGGGGACACTGCAG	0.592000														55			35		0	0	0.00111076	0	0
ZNF229	7772	broad.mit.edu	37	19	44934487	44934487	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr19:44934487G>A	uc002oze.1	-	5	903	c.469C>T	c.(469-471)Ctg>Ttg	p.L157L	ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Silent_p.L151L	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AGACTGTCCAGGGAATTCTCA	0.473000														58			39		0	0	0.000228196	0	0
SCN3A	6328	broad.mit.edu	37	2	165947241	165947241	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:165947241T>A	uc002ucx.3	-	27	5914	c.5422A>T	c.(5422-5424)Ata>Tta	p.I1808L	SCN3A_uc010zcy.2_Missense_Mutation_p.I291L|SCN3A_uc002ucy.3_Missense_Mutation_p.I1759L|SCN3A_uc002ucz.3_Missense_Mutation_p.I1759L	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1808						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GAGAACTCTATAAACTGGGTC	0.463000														64			68		0	0	0.000781405	0	0
TMC7	79905	broad.mit.edu	37	16	19058499	19058499	+	Silent	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:19058499C>T	uc002dfp.2	+	11	1798	c.1668C>T	c.(1666-1668)atC>atT	p.I556I	TMC7_uc002dfq.3_Silent_p.I556I|TMC7_uc010vap.2_Silent_p.I446I	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	556						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TCTGCTGGATCGGAGCCTTTT	0.507000														194			147		0	0	0.000781405	0	0
ETF1	2107	broad.mit.edu	37	5	137853289	137853289	+	Silent	SNP	A	G	G			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:137853289A>G	uc003ldc.4	-	3	528	c.363T>C	c.(361-363)aaT>aaC	p.N121N	ETF1_uc011cyv.2_Silent_p.N107N|ETF1_uc010jex.3_Non-coding_Transcript|ETF1_uc003ldd.4_Silent_p.N88N|ETF1_uc010jey.1_5'UTR	NM_004730	NP_004721	P62495	ERF1_HUMAN	Homo sapiens eukaryotic translation termination factor 1 (ETF1), transcript variant 1, mRNA.	121					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACAATGACGTATTAATTGGTT	0.378000														59			41		0	0	0.000319135	0	0
ADCK5	203054	broad.mit.edu	37	8	145615897	145615897	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr8:145615897C>T	uc003zch.3	+	3	347	c.293C>T	c.(292-294)tCc>tTc	p.S98F	ADCK5_uc003zci.3_5'Flank	NM_174922	NP_777582	Q3MIX3	ADCK5_HUMAN	Homo sapiens aarF domain containing kinase 5 (ADCK5), mRNA.	98						integral to membrane	protein serine/threonine kinase activity			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CTGCAGATCTCCCTGGACTAC	0.647000														20			12		0	0	0.000151284	0	0
TRHDE	29953	broad.mit.edu	37	12	72969051	72969051	+	Silent	SNP	T	C	C			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:72969051T>C	uc001sxa.3	+	10	2043	c.2013T>C	c.(2011-2013)acT>acC	p.T671T		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	671					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACAGAATAACTTATTTGGACA	0.338000														12			20		0	0	0.000132079	0	0
KIAA1109	84162	broad.mit.edu	37	4	123107326	123107326	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr4:123107326A>G	uc003ieh.3	+	4	539	c.494A>G	c.(493-495)gAt>gGt	p.D165G	KIAA1109_uc003iei.1_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	165					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAGAAAGATGATGATAAAACA	0.338000														35			22		0	0	0.00047179	0	0
AP4B1	10717	broad.mit.edu	37	1	114445307	114445307	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:114445307G>A	uc001eeb.3	-	1	477	c.291C>T	c.(289-291)ccC>ccT	p.P97P	AP4B1_uc001eec.3_Intron|AP4B1_uc010owp.2_5'UTR|AP4B1_uc001eed.3_Silent_p.P97P|AP4B1_uc001eea.1_5'Flank|AP4B1_uc010owq.2_Silent_p.P97P|DCLRE1B_uc001eeh.3_5'Flank|DCLRE1B_uc001eeg.3_5'Flank|DCLRE1B_uc001eei.3_5'Flank	NM_001253852	NP_001240781	Q9Y6B7	AP4B1_HUMAN	Homo sapiens adaptor-related protein complex 4, beta 1 subunit (AP4B1), transcript variant 2, mRNA.	97					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCATTGGATTGGGGTCTGAGC	0.502000														24			21		0	0	0.00047179	0	0
ABCC11	85320	broad.mit.edu	37	16	48204027	48204027	+	Missense_Mutation	SNP	G	A	A	rs139771120		TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:48204027G>A	uc002eff.1	-	26	4230	c.3880C>T	c.(3880-3882)Cgc>Tgc	p.R1294C	ABCC11_uc002efg.1_Missense_Mutation_p.R1294C|ABCC11_uc002efh.1_Intron|ABCC11_uc010cbg.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	1294	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R1294H(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TTGGAGTTGCGAAGCACAGCC	0.582000														117			93		0	0	0.000781405	0	0
CPA1	1357	broad.mit.edu	37	7	130025046	130025046	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:130025046G>A	uc003vpx.3	+	7	919	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K	CPA1_uc003vpw.2_Missense_Mutation_p.E117K	NM_001868	NP_001859	P15085	CBPA1_HUMAN	Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA.	283					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					TGCCAATTCCGAAGTGGAGGT	0.562000														38			24		0	0	0.00047179	0	0
QRICH2	84074	broad.mit.edu	37	17	74278089	74278089	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:74278089G>A	uc002jrd.1	-	7	3801	c.3621C>T	c.(3619-3621)atC>atT	p.I1207I	QRICH2_uc010dgw.1_Silent_p.I51I	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	1207							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCTCAGGGTCGATCTGGCCAG	0.612000														16			8		0	0	0.000157383	0	0
WIPF2	147179	broad.mit.edu	37	17	38420972	38420972	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:38420972C>T	uc002hug.1	+	4	784	c.544C>T	c.(544-546)Cca>Tca	p.P182S	WIPF2_uc002huh.1_Missense_Mutation_p.P32S|WIPF2_uc010cww.1_Missense_Mutation_p.P32S|WIPF2_uc002hui.1_Missense_Mutation_p.P182S|WIPF2_uc010cwx.1_Intron|WIPF2_uc010cwy.1_Missense_Mutation_p.P182S	NM_133264	NP_573571	Q8TF74	WIPF2_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 2 (WIPF2), mRNA.	182	Poly-Pro.					cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CCCACCACCCCCAGGGCGGCG	0.647000										HNSCC(43;0.11)				24			26		0	0	0.000586117	0	0
SEMA3F	6405	broad.mit.edu	37	3	50211375	50211375	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr3:50211375G>A	uc003cyj.3	+	2	460	c.262G>A	c.(262-264)Gag>Aag	p.E88K	SEMA3F_uc003cyk.3_Missense_Mutation_p.E88K	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA.	88	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CATCAACCGCGAGCCCCTCAT	0.632000														25			13		0	0	0.000308642	0	0
CCNE2	9134	broad.mit.edu	37	8	95906253	95906254	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr8:95906253_95906254GG>TT	uc003yhc.3	-	2	212_213	c.108_109CC>AA	c.(106-111)acccag>acAAag	p.Q37K	CCNE2_uc003yhd.2_Missense_Mutation_p.Q37K	NM_057749	NP_477097	O96020	CCNE2_HUMAN	Homo sapiens cyclin E2 (CCNE2), mRNA.	37					G1/S transition of mitotic cell cycle|cell cycle checkpoint|cell division|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					TAAATCACCTGGGTAGTTTTCC	0.465000														631			10		0	0	6.4e-05	0	0
OTOP3	347741	broad.mit.edu	37	17	72943163	72943163	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:72943163G>A	uc010wrr.2	+	5	1213	c.1213G>A	c.(1213-1215)Gac>Aac	p.D405N	OTOP3_uc010wrq.2_Missense_Mutation_p.D387N	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	405						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					GAGAGAGCTGGACACGGTCAA	0.597000														36			26		0	0	0.000878237	0	0
ZFPL1	7542	broad.mit.edu	37	11	64854470	64854471	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:64854470_64854471CC>TT	uc001ocq.1	+	5	717_718	c.552_553CC>TT	c.(550-555)ccccgg>ccTTgg	p.R185W	CDCA5_uc001ocp.2_5'Flank	NM_006782	NP_006773	O95159	ZFPL1_HUMAN	Homo sapiens zinc finger protein-like 1 (ZFPL1), mRNA.	185					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						GCCAGGCCCCCCGGCCCCCAGC	0.653000														5			6		0	0	6.4e-05	0	0
BC101079	0	broad.mit.edu	37	15	102292820	102292820	+	Silent	SNP	G	C	C			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr15:102292820G>C	uc010usj.2	+	3	467	c.408G>C	c.(406-408)acG>acC	p.T136T	DQ597539_uc002bxo.3_Non-coding_Transcript|DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.									p.T136T(2)									GCGTGGGAACGAGAAGACACT	0.592000														18			4		0	0	0.000602214	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147219	26147219	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:26147219G>A	uc002dof.3	+	1	1413	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	341					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GCTGCATCTGGAAAACTGGCT	0.547000														102			88		0	0	0.000781405	0	0
CEACAM20	125931	broad.mit.edu	37	19	45021052	45021052	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr19:45021052G>A	uc010ejn.1	-	5	1280	c.1264C>T	c.(1264-1266)Ctc>Ttc	p.L422F	CEACAM20_uc010ejo.1_Missense_Mutation_p.L422F|CEACAM20_uc010ejp.1_Intron|CEACAM20_uc010ejq.1_Intron	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	422	Ig-like C2-type 4.					integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				AGGCCAGTGAGAGAGTTGGAG	0.602000														192			145		0	0	0.000781405	0	0
RASAL2	9462	broad.mit.edu	37	1	178427138	178427138	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:178427138G>A	uc001glq.3	+	13	3475	c.2711G>A	c.(2710-2712)aGa>aAa	p.R904K	RASAL2_uc001glr.3_Missense_Mutation_p.R763K|RASAL2_uc009wxc.3_Missense_Mutation_p.R277K	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	763					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CCCCAAGTGAGAAGGCCCCTG	0.567000														45			29		0	0	0.000184323	0	0
BIN2	51411	broad.mit.edu	37	12	51686091	51686091	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:51686091G>A	uc001ryg.3	-	9	851	c.799C>T	c.(799-801)Cga>Tga	p.R267*	BIN2_uc009zlz.3_Nonsense_Mutation_p.R235*|BIN2_uc001ryh.3_Nonsense_Mutation_p.R143*|BIN2_uc010sng.2_Nonsense_Mutation_p.R241*	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	267						cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						GTAGCTGTTCGAACTGGGGGA	0.453000														22			26		0	0	0.000878237	0	0
EIF3B	8662	broad.mit.edu	37	7	2419114	2419114	+	Silent	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:2419114C>T	uc003slx.3	+	17	2510	c.2427C>T	c.(2425-2427)ccC>ccT	p.P809P	EIF3B_uc003sly.3_Silent_p.P809P|EIF3B_uc003sma.3_Silent_p.P537P|EIF3B_uc003smb.3_Non-coding_Transcript	NM_003751	NP_003742	P55884	EIF3B_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit B (EIF3B), transcript variant 1, mRNA.	809					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		AAATCATTCCCCTCGGGAATC	0.582000														2			4		0	0	0.000602214	0	0
MGAM	8972	broad.mit.edu	37	7	141765200	141765200	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:141765200G>A	uc003vwy.3	+	37	4604	c.4550G>A	c.(4549-4551)gGc>gAc	p.G1517D		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1517	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCCTCTTCTGGCCGCTGGGCA	0.607000														6			10		0	0	0.000673444	0	0
FAM47C	442444	broad.mit.edu	37	X	37027986	37027986	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chrX:37027986G>A	uc004ddl.2	+	0	1555	c.1503G>A	c.(1501-1503)gaG>gaA	p.E501E		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	501										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTGCCCAGAGCCCCCCAAGA	0.612000														11			38		0	0	0.000953801	0	0
ABR	29	broad.mit.edu	37	17	970419	970419	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:970419G>A	uc002fsd.3	-	9	1190	c.1080C>T	c.(1078-1080)ccC>ccT	p.P360P	ABR_uc002fse.3_Silent_p.P314P|ABR_uc010vqg.2_Silent_p.P142P|ABR_uc002fsg.3_Silent_p.P323P|ABR_uc002fsh.1_Silent_p.P244P	NM_021962	NP_001153218	Q12979	ABR_HUMAN	Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.	360	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CAGACTCCTCGGGGGATGGAA	0.582000														16			14		0	0	0.000422831	0	0
KIRREL	55243	broad.mit.edu	37	1	158047904	158047904	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:158047904C>T	uc001frn.4	+	2	730	c.326C>T	c.(325-327)tCt>tTt	p.S109F	KIRREL_uc010pib.2_Intron|KIRREL_uc009wsq.3_Missense_Mutation_p.S48F	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	Homo sapiens kin of IRRE like (Drosophila) (KIRREL), mRNA.	109	Ig-like C2-type 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GCCCTGCGCTCTCGGCGGGCC	0.617000														54			54		0	0	0.000781405	0	0
SLIT1	6585	broad.mit.edu	37	10	98807541	98807541	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr10:98807541G>A	uc001kmw.2	-	15	1792	c.1540C>T	c.(1540-1542)Ccc>Tcc	p.P514S	SLIT1_uc009xvh.1_Missense_Mutation_p.P524S	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	514	LRRNT 3.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CACTTGTGGGGACAGACCACG	0.652000														35			30		0	0	0.000184323	0	0
UBE2F	140739	broad.mit.edu	37	2	238881822	238881822	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:238881822G>A	uc002vxk.3	+	1	277	c.73G>A	c.(73-75)Gac>Aac	p.D25N	UBE2F_uc010zno.2_Non-coding_Transcript|UBE2F_uc010znn.2_Missense_Mutation_p.D25N|UBE2F_uc010znp.2_Missense_Mutation_p.D25N|SCLY_uc002vxm.4_5'UTR	NM_080678	NP_542409	Q969M7	UBE2F_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2F (putative) (UBE2F), transcript variant 1, mRNA.	25	Interaction with UBA3.				protein neddylation		ATP binding|NEDD8 ligase activity|protein binding			endometrium(1)|large_intestine(1)	2		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)		CACAGCGTCCGACTCGACTCG	0.463000														10			34		0	0	0.000491102	0	0
OR10G4	390264	broad.mit.edu	37	11	123886905	123886905	+	Silent	SNP	C	T	T	rs144261644		TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:123886905C>T	uc010sac.2	+	0	624	c.624C>T	c.(622-624)ggC>ggT	p.G208G		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G208G(2)|p.G208A(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TGGCCTCAGGCTGCTTTGTCC	0.557000														22			53		0	0	0.000781405	0	0
OR2A14	135941	broad.mit.edu	37	7	143826490	143826490	+	Silent	SNP	A	C	C			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:143826490A>C	uc011kua.2	+	0	285	c.285A>C	c.(283-285)ccA>ccC	p.P95P		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA.	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CCTTTTTTCCATGCATAATGC	0.453000														231			7		0	0	8.12818e-05	0	0
HECW1	23072	broad.mit.edu	37	7	43351470	43351470	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:43351470G>A	uc003tid.1	+	3	741	c.136G>A	c.(136-138)Gac>Aac	p.D46N	HECW1_uc011kbi.1_Missense_Mutation_p.D46N|HECW1_uc003tie.1_Missense_Mutation_p.D78N	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	46					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTACAACCCCGACCAGTTCCA	0.637000														33			18		0	0	0.00074312	0	0
COL4A4	1286	broad.mit.edu	37	2	227875216	227875216	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:227875216C>T	uc021vxr.1	-	45	4435	c.4334_splice	c.e45-1	p.G1445_splice	COL4A4_uc021vxs.1_Splice_Site_p.G1442_splice	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1445	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GACCAGGAGGCCCTGGAGGAA	0.542000														3			9		0	0	0.000673444	0	0
ART5	116969	broad.mit.edu	37	11	3661163	3661163	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:3661163G>A	uc001lyb.1	-	1	889	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	ART5_uc001lyc.1_Missense_Mutation_p.R166C|ART5_uc001lyd.3_Missense_Mutation_p.R166C|ART5_uc009yea.3_Missense_Mutation_p.R166C	NM_053017	NP_443750	Q96L15	NAR5_HUMAN	Homo sapiens ADP-ribosyltransferase 5 (ART5), transcript variant 1, mRNA.	166						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTTCAAAGCGAAGGCTGCCC	0.627000														21			14		0	0	0.000219431	0	0
CANT1	124583	broad.mit.edu	37	17	76993522	76993522	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:76993522G>A	uc002jwj.3	-	1	678	c.183C>T	c.(181-183)tcC>tcT	p.S61S	CANT1_uc002jwn.3_Silent_p.S61S|CANT1_uc002jwk.3_Silent_p.S61S|CANT1_uc002jwl.2_Non-coding_Transcript	NM_138793	NP_620148	Q8WVQ1	CANT1_HUMAN	Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 1, mRNA.	61					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi cisterna membrane|endoplasmic reticulum membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CCGGGCGGTGGGAGCAGAGCA	0.682000			T	ETV4	prostate									11			27		0	0	0.000720815	0	0
VWF	7450	broad.mit.edu	37	12	6127715	6127715	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:6127715G>A	uc001qnn.1	-	27	5119	c.4869C>T	c.(4867-4869)atC>atT	p.I1623I	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1623	VWFA 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCACCACCTGGATGTCTCCAG	0.597000														21			6		0	0	3.59834e-05	0	0
GPR98	84059	broad.mit.edu	37	5	89925200	89925200	+	Silent	SNP	T	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:89925200T>A	uc003kju.3	+	8	1779	c.1683T>A	c.(1681-1683)ccT>ccA	p.P561P	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	561					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTACATTCCTGCTGGAGCTG	0.408000														24			13		0	0	0.000151284	0	0
AS3MT	57412	broad.mit.edu	37	10	104629931	104629931	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr10:104629931G>T	uc001kwj.3	+	6	538	c.139G>T	c.(139-141)Gaa>Taa	p.E47*	AS3MT_uc009xxh.3_Nonsense_Mutation_p.E45*|AS3MT_uc001kwk.3_Nonsense_Mutation_p.E45*	NM_020682	NP_065733	Q9HBK9	AS3MT_HUMAN	Homo sapiens arsenic (+3 oxidation state) methyltransferase (AS3MT), mRNA.	45					arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		GCACATCCGGGAAGCCTTGCA	0.557000														30			10		3.07112e-06	3.46146e-05	0.000978159	1	0
ZNF287	57336	broad.mit.edu	37	17	16455964	16455964	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:16455964G>A	uc021trd.1	-	5	2110	c.1492C>T	c.(1492-1494)Cat>Tat	p.H498Y	ZNF287_uc002gqi.2_Missense_Mutation_p.H498Y	NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	Homo sapiens zinc finger protein 287 (ZNF287), mRNA.	491					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		ACTCTCTGATGATTAATCAGT	0.373000														68			55		0	0	0.000781405	0	0
PYGM	5837	broad.mit.edu	37	11	64522183	64522183	+	Silent	SNP	G	A	A	rs146289842		TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:64522183G>A	uc001oax.4	-	7	1798	c.981C>T	c.(979-981)ttC>ttT	p.F327F	PYGM_uc001oay.4_Silent_p.F239F	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	327					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GGAAGGCATCGAAGTTCGTGC	0.602000														2			5		0	0	0.000602214	0	0
SLIT2	9353	broad.mit.edu	37	4	20525762	20525762	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr4:20525762G>A	uc003gpr.1	+	13	1604	c.1400G>A	c.(1399-1401)aGa>aAa	p.R467K	SLIT2_uc003gps.1_Missense_Mutation_p.R467K	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	467	LRRCT 2.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCAAACAAAAGAATTGGACAG	0.478000														103			55		0	0	0.000781405	0	0
COL11A2	1302	broad.mit.edu	37	6	33133741	33133741	+	Silent	SNP	T	C	C			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr6:33133741T>C	uc003ocx.1	-	61	4677	c.4449A>G	c.(4447-4449)ggA>ggG	p.G1483G	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.G1397G|COL11A2_uc003ocz.1_Silent_p.G1376G	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1483	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CACCCTTCTCTCCCTTGGGTC	0.597000														13			28		0	0	0.000279167	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74880730	74880730	+	Silent	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:74880730C>T	uc001owb.3	+	5	1097	c.702C>T	c.(700-702)acC>acT	p.T234T	SLCO2B1_uc010rrq.2_Intron|SLCO2B1_uc010rrr.2_Silent_p.T90T|SLCO2B1_uc010rrs.2_Silent_p.T118T|SLCO2B1_uc001owc.3_Intron|SLCO2B1_uc001owd.3_Silent_p.T212T	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	234					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	TTGCAGTGACCATGATGGGGC	0.572000														80			9		0	0	0.000673444	0	0
SPIRE1	56907	broad.mit.edu	37	18	12464892	12464892	+	Silent	SNP	G	C	C			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr18:12464892G>C	uc002kre.3	-	10	1517	c.1470C>G	c.(1468-1470)gtC>gtG	p.V490V	SPIRE1_uc002krc.3_Non-coding_Transcript|SPIRE1_uc010wzw.2_Silent_p.V356V|SPIRE1_uc010wzx.2_Silent_p.V279V|SPIRE1_uc010wzy.2_Silent_p.V476V	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN	Homo sapiens spire homolog 1 (Drosophila) (SPIRE1), transcript variant 1, mRNA.	490						cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						CGGCCTCCAGGACTGGCTCTT	0.512000														29			18		0	0	0.000566183	0	0
SMPD3	55512	broad.mit.edu	37	16	68405014	68405014	+	Silent	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:68405014C>T	uc002ewa.3	-	2	1493	c.1071G>A	c.(1069-1071)ctG>ctA	p.L357L	SMPD3_uc010cfe.3_Silent_p.L357L|SMPD3_uc010vlh.2_Silent_p.L357L	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA.	357					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	ACAGGAAGTCCAGGTTGGCGG	0.612000														44			27		0	0	0.000491102	0	0
CCDC60	160777	broad.mit.edu	37	12	119942892	119942892	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:119942892C>T	uc001txe.3	+	6	1132	c.667C>T	c.(667-669)Ccc>Tcc	p.P223S	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	223										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		ATTCAAAATTCCCACAATGCG	0.517000														22			23		0	0	0.000720815	0	0
CNTN5	53942	broad.mit.edu	37	11	100141825	100141825	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:100141825C>T	uc001pga.3	+	18	2669	c.2165_splice	c.e18-1	p.V722_splice	CNTN5_uc001pfz.3_Splice_Site_p.V722_splice|CNTN5_uc021qpb.1_Splice_Site_p.V722_splice|CNTN5_uc021qpc.1_Splice_Site_p.V648_splice|CNTN5_uc010ruk.2_Splice_Site	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	722	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TTTCTATAGTCCCAGAAATCA	0.418000														16			14		0	0	0.000422831	0	0
KIAA1804	84451	broad.mit.edu	37	1	233515261	233515261	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:233515261G>A	uc001hvt.4	+	8	2770	c.2509G>A	c.(2509-2511)Gat>Aat	p.D837N	KIAA1804_uc001hvu.4_Missense_Mutation_p.D283N	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	837					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				GCTCACTCCGGATTTTTGTCC	0.517000														36			22		0	0	0.000295444	0	0
DICER1	23405	broad.mit.edu	37	14	95571490	95571490	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr14:95571490A>C	uc001ydw.2	-	20	3399	c.3187T>G	c.(3187-3189)Tgc>Ggc	p.C1063G	DICER1_uc010avh.1_5'UTR|DICER1_uc021sbc.1_Missense_Mutation_p.C1063G|DICER1_uc001ydv.2_Missense_Mutation_p.C1053G|DICER1_uc001ydx.2_Missense_Mutation_p.C1063G|DICER1_uc001ydy.1_5'Flank|DICER1_uc021sbd.1_Missense_Mutation_p.C345G	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	1063					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GTCAAAAGGCAGTGAAGGCGA	0.502000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					88			49		0	0	0.000781405	0	0
ASXL3	80816	broad.mit.edu	37	18	31318689	31318689	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr18:31318689G>A	uc010dmg.1	+	10	1376	c.1321G>A	c.(1321-1323)Gat>Aat	p.D441N	ASXL3_uc002kxq.2_Missense_Mutation_p.D148N	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GGAGTCAGAGGATATCTTGAT	0.418000														67			44		0	0	0.000781405	0	0
DCAF8	50717	broad.mit.edu	37	1	160209930	160209930	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:160209930G>A	uc001fvo.2	-	3	592	c.280C>T	c.(280-282)Cga>Tga	p.R94*	DCAF8_uc001fvn.2_Nonsense_Mutation_p.R94*|DCAF8_uc009wth.2_Nonsense_Mutation_p.R94*|DCAF8_uc010pjb.1_Nonsense_Mutation_p.R94*|DCAF8_uc010pjc.1_Nonsense_Mutation_p.R248*|DCAF8_uc001fvq.4_Nonsense_Mutation_p.R94*|DCAF8_uc001fvp.4_Nonsense_Mutation_p.R94*	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8 (DCAF8), transcript variant 1, mRNA.	94						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						TCATGGACTCGATTTTCATCA	0.532000														14			10		0	0	0.000442599	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420039	105420039	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr14:105420039G>A	uc010axc.1	-	6	1869	c.1749C>T	c.(1747-1749)ccC>ccT	p.P583P	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.P483P	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	583						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTTGAACTTGGGCATTCTTA	0.517000														142			87		0	0	0.000781405	0	0
C16orf88	400506	broad.mit.edu	37	16	19725554	19725554	+	Silent	SNP	T	C	C			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:19725554T>C	uc002dgq.3	-	1	819	c.804A>G	c.(802-804)aaA>aaG	p.K268K	IQCK_uc002dgr.3_5'Flank|IQCK_uc002dgs.3_5'Flank	NM_001012991	NP_001013009	Q1ED39	CP088_HUMAN	Homo sapiens chromosome 16 open reading frame 88 (C16orf88), mRNA.	268	Lys-rich.					nucleolus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	13						ACTTCATCTTTTTCTTTGCGG	0.478000														71			59		0	0	0.000781405	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49654505	49654505	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr10:49654505C>T	uc001jgu.3	-	9	2371	c.2074G>A	c.(2074-2076)Gaa>Aaa	p.E692K	ARHGAP22_uc001jgs.3_Missense_Mutation_p.E586K|ARHGAP22_uc001jgt.3_Missense_Mutation_p.E676K|ARHGAP22_uc010qgl.2_Missense_Mutation_p.E633K|ARHGAP22_uc010qgm.2_Missense_Mutation_p.E682K|ARHGAP22_uc001jgv.3_Missense_Mutation_p.E374K|ARHGAP22_uc001jgr.3_Missense_Mutation_p.E393K	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	676					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCTCCATTTCCCTCTGCAAC	0.512000														69			48		0	0	0.000781405	0	0
MRPL42	28977	broad.mit.edu	37	12	93894980	93894980	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:93894980C>T	uc021rbv.1	+	6	591	c.412C>T	c.(412-414)Cct>Tct	p.P138S	MRPL42_uc001tct.3_Non-coding_Transcript|MRPL42_uc001tcq.3_Missense_Mutation_p.P138S|MRPL42_uc001tcs.3_Missense_Mutation_p.P138S|MRPL42_uc001tcr.3_Missense_Mutation_p.P138S			Q9Y6G3	RM42_HUMAN	Homo sapiens mitochondrial ribosomal protein L42 (MRPL42), transcript variant 4, non-coding RNA.	138					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)	7						GAATCTGAATCCTCCAAAAGA	0.338000														13			15		0	0	0.000958276	0	0
ADORA1	134	broad.mit.edu	37	1	203134668	203134668	+	Silent	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:203134668C>T	uc010pqh.1	+	2	757	c.720C>T	c.(718-720)atC>atT	p.I240I	ADORA1_uc001gzf.1_Silent_p.I207I|ADORA1_uc001gze.1_Silent_p.I207I|ADORA1_uc010pqg.1_Silent_p.I139I|ADORA1_uc009xak.1_Missense_Mutation_p.P133S	NM_001048230	NP_001041695	P30542	AA1R_HUMAN	Homo sapiens adenosine A1 receptor (ADORA1), transcript variant 2, mRNA.	207					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	TCTACCTAATCCGCAAGCAGC	0.552000														51			41		0	0	0.000374591	0	0
CCT8L2	150160	broad.mit.edu	37	22	17071966	17071966	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr22:17071966C>T	uc002zlp.1	-	0	1735	c.1475G>A	c.(1474-1476)gGg>gAg	p.G492E		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	492					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GTCCCACACCCCTTCCTGGGC	0.517000														87			61		0	0	0.000781405	0	0
GFPT2	9945	broad.mit.edu	37	5	179739468	179739468	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:179739468C>T	uc003mlw.1	-	14	1606	c.1508G>A	c.(1507-1509)aGg>aAg	p.R503K		NM_005110	NP_005101	O94808	GFPT2_HUMAN	Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	503					UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CTCTTGCCTCCTGTTTTGTAG	0.443000														26			18		0	0	0.000175454	0	0
C2orf65	130951	broad.mit.edu	37	2	74834278	74834279	+	Missense_Mutation	DNP	GG	CA	CA			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:74834278_74834279GG>CA	uc002smy.3	-	3	615_616	c.498_499CC>TG	c.(496-501)gaccta>gaTGta	p.L167V	C2orf65_uc010ysa.2_Missense_Mutation_p.L167V|C2orf65_uc002smz.2_Missense_Mutation_p.L167V	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	Homo sapiens chromosome 2 open reading frame 65 (C2orf65), mRNA.	167					RNA processing|chromatin assembly|female gamete generation|spermatogenesis	integral to membrane				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	21						ACTCTGGCTAGGTCTGTATCTT	0.455000														81			49		0	0	6.4e-05	0	0
abParts	0	broad.mit.edu	37	14	106994241	106994241	+	RNA	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr14:106994241G>A	uc021ser.1	-	232		c.9116C>T								Parts of antibodies, mostly variable regions.																		TAGCAACAAGGAAAACCCAGC	0.463000														83			51		0	0	0.000781405	0	0
VPS13C	54832	broad.mit.edu	37	15	62182401	62182401	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr15:62182401C>T	uc002agz.3	-	66	9395	c.9304G>A	c.(9304-9306)Gaa>Aaa	p.E3102K	VPS13C_uc002aha.3_Missense_Mutation_p.E3059K|VPS13C_uc002ahb.2_Missense_Mutation_p.E3102K|VPS13C_uc002ahc.2_Missense_Mutation_p.E3059K	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	3102					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGCTTGCTTTCATTGTTAACC	0.403000														37			29		0	0	0.000279167	0	0
DTL	51514	broad.mit.edu	37	1	212274335	212274335	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:212274335C>T	uc009xdc.3	+	13	2317	c.2003C>T	c.(2002-2004)gCc>gTc	p.A668V	DTL_uc010ptb.2_Missense_Mutation_p.A626V|DTL_uc001hiz.4_Missense_Mutation_p.A397V	NM_016448	NP_057532	Q9NZJ0	DTL_HUMAN	Homo sapiens denticleless homolog (Drosophila) (DTL), mRNA.	668					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|centrosome|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		GCCATGGCAGCCAAACGGAAG	0.502000														21			28		0	0	0.000184323	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145281958	145281958	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:145281958C>A	uc001emn.4	+	4	1008	c.638C>A	c.(637-639)aCa>aAa	p.T213K	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NOTCH2NL_uc001emm.4_Missense_Mutation_p.T213K|NOTCH2NL_uc001emo.2_Intron|NBPF10_uc010oyh.1_Intron|NBPF10_uc021ouk.1_Intron	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Homo sapiens notch 2 N-terminal like (NOTCH2NL), mRNA.	213	EGF-like 6.				Notch signaling pathway|cell differentiation|multicellular organismal development	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						TTTGTAGAAACAGTGAGAAGA	0.418000														73			8		0.000157383	0.00176562	0.000157383	1	0
FLJ43860	389690	broad.mit.edu	37	8	142476520	142476520	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr8:142476520G>A	uc003ywi.2	-	18	2547	c.2466C>T	c.(2464-2466)atC>atT	p.I822I	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	822							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TGTCCAAGGGGATGGAGATGT	0.652000														12			9		0	0	0.000442599	0	0
ME1	4199	broad.mit.edu	37	6	83937058	83937058	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr6:83937058G>A	uc003pjy.3	-	10	1536	c.1271C>T	c.(1270-1272)aCc>aTc	p.T424I	ME1_uc011dzb.2_Missense_Mutation_p.T349I|ME1_uc011dzc.2_Missense_Mutation_p.T258I	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	424					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding	p.T424S(2)		NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	CTTTACCTTGGTTATTTTGTA	0.328000														3			18		0	0	0.000132079	0	0
PADI3	51702	broad.mit.edu	37	1	17586203	17586203	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:17586203G>A	uc001bai.3	+	1	263	c.223G>A	c.(223-225)Gag>Aag	p.E75K		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	75					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CGCGACTTTGGAGATCATCGT	0.612000														31			24		0	0	0.00047179	0	0
C1orf150	148823	broad.mit.edu	37	1	247737658	247737658	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:247737658G>A	uc001idf.3	+	4	529	c.382G>A	c.(382-384)Gat>Aat	p.D128N	C1orf150_uc009xgw.3_Non-coding_Transcript|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Non-coding_Transcript	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.	128										breast(1)|large_intestine(2)|lung(10)|skin(2)	15	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CCATGAGCATGATTATGAAGT	0.438000														33			30		0	0	0.000491102	0	0
RGS7	6000	broad.mit.edu	37	1	241262035	241262035	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:241262035C>T	uc001hyv.2	-	2	436	c.106G>A	c.(106-108)Gat>Aat	p.D36N	RGS7_uc010pyh.2_Missense_Mutation_p.D10N|RGS7_uc010pyj.1_5'UTR|RGS7_uc001hyu.2_Missense_Mutation_p.D36N|RGS7_uc009xgn.1_Missense_Mutation_p.D36N|RGS7_uc001hyw.2_Missense_Mutation_p.D36N	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	36					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.Q35R(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTTTTTTCATCTTGCATCCGT	0.343000														26			17		0	0	0.000229342	0	0
GPR98	84059	broad.mit.edu	37	5	90124925	90124925	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:90124925G>A	uc003kju.3	+	76	16629	c.16533G>A	c.(16531-16533)aaG>aaA	p.K5511K	GPR98_uc003kjt.3_Silent_p.K3217K|GPR98_uc003kjw.3_Silent_p.K1172K	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5511					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGCTCACAAGAAGGCCACTT	0.423000														109			69		0	0	0.000781405	0	0
EXOC6	54536	broad.mit.edu	37	10	94715367	94715367	+	Silent	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr10:94715367C>T	uc010qnr.2	+	17	1860	c.1717C>T	c.(1717-1719)Ctg>Ttg	p.L573L	EXOC6_uc001kie.3_Silent_p.L552L|EXOC6_uc001kig.3_Silent_p.L557L|EXOC6_uc009xub.3_Silent_p.L556L|EXOC6_uc009xuc.3_Silent_p.L454L|EXOC6_uc001kih.3_Non-coding_Transcript|EXOC6_uc001kii.3_Silent_p.L131L	NM_001013848	NP_001013870	Q8TAG9	EXOC6_HUMAN	Homo sapiens exocyst complex component 6 (EXOC6), transcript variant 2, mRNA.	557					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				CACAACACACCTGGAGCAAGC	0.294000														169			97		0	0	0.000781405	0	0
ACOXL	55289	broad.mit.edu	37	2	111753534	111753534	+	Missense_Mutation	SNP	C	T	T	rs150734728	byFrequency	TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:111753534C>T	uc010yxk.1	+	13	1458	c.1234C>T	c.(1234-1236)Cgt>Tgt	p.R412C	ACOXL_uc021vmm.1_Missense_Mutation_p.R265C|ACOXL_uc021vmn.1_Missense_Mutation_p.R235C	NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	442					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						AGTGAAATTTCGTGAAAGGGT	0.368000														65			37		0	0	0.000509022	0	0
MYO18B	84700	broad.mit.edu	37	22	26422565	26422565	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr22:26422565G>A	uc003abz.1	+	42	6875	c.6625G>A	c.(6625-6627)Gaa>Aaa	p.E2209K	MYO18B_uc003aca.1_Missense_Mutation_p.E2090K|MYO18B_uc010guy.1_Missense_Mutation_p.E2091K|MYO18B_uc010guz.1_Missense_Mutation_p.E2089K|MYO18B_uc011aka.1_Missense_Mutation_p.E1363K|MYO18B_uc011akb.1_Missense_Mutation_p.E1722K|MYO18B_uc010gva.1_Missense_Mutation_p.E192K|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2209						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity	p.E2210K(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGGGGACGGCGAAGTGCTTGC	0.547000														21			23		0	0	0.000229342	0	0
SH2D7	646892	broad.mit.edu	37	15	78390386	78390386	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr15:78390386G>A	uc010blb.1	+	2	382	c.382G>A	c.(382-384)Gag>Aag	p.E128K		NM_001101404	NP_001094874	A6NKC9	SH2D7_HUMAN	Homo sapiens SH2 domain containing 7 (SH2D7), mRNA.	128	SH2.									endometrium(2)|kidney(2)|lung(3)	7						CCATTACCAGGAGGCACAGCT	0.612000														17			6		0	0	0.000157383	0	0
KRI1	65095	broad.mit.edu	37	19	10668488	10668488	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr19:10668488G>A	uc002moy.1	-	14	1470	c.1461C>T	c.(1459-1461)ccC>ccT	p.P487P	KRI1_uc002mow.1_Silent_p.P106P|KRI1_uc002mox.1_Silent_p.P483P	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	Homo sapiens KRI1 homolog (S. cerevisiae) (KRI1), mRNA.	487										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CCGCGGCGAAGGGCGACTTGC	0.692000														23			13		0	0	0.00010058	0	0
ORAI2	80228	broad.mit.edu	37	7	102079416	102079416	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:102079416C>T	uc010lhz.1	+	2	248	c.13C>T	c.(13-15)Ctt>Ttt	p.L5F	ORAI2_uc003uzj.2_Missense_Mutation_p.L5F|ORAI2_uc003uzk.2_Missense_Mutation_p.L5F|ORAI2_uc011kks.1_Intron	NM_001126340	NP_116220	Q96SN7	ORAI2_HUMAN	Homo sapiens ORAI calcium release-activated calcium modulator 2 (ORAI2), transcript variant 1, mRNA.	5						integral to membrane	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						GAGTGCTGAGCTTAACGTGCC	0.602000														83			48		0	0	0.000781405	0	0
IRAK1BP1	134728	broad.mit.edu	37	6	79607571	79607571	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr6:79607571G>A	uc003pim.3	+	2	512	c.407G>A	c.(406-408)gGa>gAa	p.G136E	IRAK1BP1_uc010kbg.1_Non-coding_Transcript|IRAK1BP1_uc003pin.2_Missense_Mutation_p.G49E	NM_001010844	NP_001010844	Q5VVH5	IKBP1_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 1 binding protein 1 (IRAK1BP1), mRNA.	136					I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		ACTGAATTTGGAAAAATGCAA	0.333000														8			24		0	0	0.00047179	0	0
PLB1	151056	broad.mit.edu	37	2	28802509	28802509	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:28802509G>A	uc002rmb.2	+	22	1545	c.1501G>A	c.(1501-1503)Gaa>Aaa	p.E501K	PLB1_uc010ezj.2_Missense_Mutation_p.E512K|PLB1_uc002rmc.3_Missense_Mutation_p.E189K|PLB1_uc002rmd.1_Missense_Mutation_p.E11K	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	501	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					ACACTTTCAGGAAGACTGGAA	0.423000														53			22		0	0	0.000375601	0	0
MEGF6	1953	broad.mit.edu	37	1	3427395	3427395	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:3427395C>G	uc001akl.3	-	9	1413	c.1186G>C	c.(1186-1188)Ggc>Cgc	p.G396R	MEGF6_uc001akk.3_Missense_Mutation_p.G291R	NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	396	EGF-like 7.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCGTAGCAGCCGCACTCGTAC	0.692000														31			15		0	0	0.000422831	0	0
OR2C1	4993	broad.mit.edu	37	16	3406858	3406858	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:3406858G>A	uc002cuw.1	+	0	970	c.918G>A	c.(916-918)ggG>ggA	p.G306G		NM_012368	NP_036500	O95371	OR2C1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 1 (OR2C1), mRNA.	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GGTTGCTGGGGAAAGGAAGAG	0.493000														7			4		0	0	0.00024832	0	0
AP1B1	162	broad.mit.edu	37	22	29736755	29736755	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr22:29736755C>T	uc003afj.3	-	13	2075	c.1888G>A	c.(1888-1890)Ggt>Agt	p.G630S	AP1B1_uc003afl.3_Missense_Mutation_p.G630S|AP1B1_uc003afi.3_Missense_Mutation_p.G630S|AP1B1_uc011ako.2_Missense_Mutation_p.G183S	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	Homo sapiens adaptor-related protein complex 1, beta 1 subunit (AP1B1), transcript variant 1, mRNA.	630	Pro-rich (stalk region).				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AGGAGGTCACCCAGCAGGTCG	0.687000														10			8		0	0	0.000157383	0	0
CLDN25	644672	broad.mit.edu	37	11	113651137	113651138	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:113651137_113651138CC>TT	uc009yyw.1	+	0	620_621	c.620_621CC>TT	c.(619-621)tcc>tTT	p.S207F		NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN	Homo sapiens claudin 25 (CLDN25), mRNA.	207						integral to membrane|tight junction	structural molecule activity			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						GTCCCCCTATCCTGTGCTCCAG	0.530000														56			10		0	0	6.4e-05	0	0
KCNMA1	3778	broad.mit.edu	37	10	78669808	78669808	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr10:78669808G>A	uc001jxn.3	-	24	3240	c.3063C>T	c.(3061-3063)gaC>gaT	p.D1021D	KCNMA1_uc021ptu.1_Silent_p.D913D|KCNMA1_uc001jxj.2_Silent_p.D967D|KCNMA1_uc001jxk.1_Silent_p.D639D|KCNMA1_uc009xrt.1_Silent_p.D812D|KCNMA1_uc001jxl.1_Silent_p.D646D|KCNMA1_uc001jxo.3_Silent_p.D1004D|KCNMA1_uc001jxm.3_Silent_p.D963D|KCNMA1_uc001jxq.3_Silent_p.D993D	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	1021					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CTGTATCAGGGTCATCATCAT	0.458000														28			14		0	0	0.000308642	0	0
YLPM1	56252	broad.mit.edu	37	14	75266103	75266103	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr14:75266103G>A	uc001xqj.4	+	4	4227	c.4103G>A	c.(4102-4104)aGg>aAg	p.R1368K	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	1173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TTCCGTGATAGGGGTGAGTTG	0.483000														134			74		0	0	0.000781405	0	0
POTEA	340441	broad.mit.edu	37	8	43159895	43159895	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr8:43159895C>T	uc003xpz.1	+	5	930	c.887C>T	c.(886-888)tCt>tTt	p.S296F	POTEA_uc003xqa.1_Missense_Mutation_p.S250F	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	296								p.S295Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AACAACTCTTCTGGAAATAGC	0.348000														46			20		0	0	0.00106085	0	0
GTF3C1	2975	broad.mit.edu	37	16	27506734	27506734	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:27506734G>A	uc002dov.2	-	14	2470	c.2430C>T	c.(2428-2430)ctC>ctT	p.L810L	GTF3C1_uc002dou.3_Silent_p.L810L	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	810						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCCCGTAGATGAGGTACCACA	0.582000														12			16		0	0	0.000308642	0	0
SSH2	85464	broad.mit.edu	37	17	27959545	27959545	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:27959545G>A	uc002heo.1	-	14	2586	c.2586C>T	c.(2584-2586)taC>taT	p.Y862Y	SSH2_uc010wbh.1_Silent_p.Y889Y	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA.	862					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGACCCAGGGTACCACTTGG	0.567000														56			36		0	0	0.00058488	0	0
TRANK1	9881	broad.mit.edu	37	3	36897228	36897228	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr3:36897228C>T	uc003cgj.3	-	11	4101	c.3853G>A	c.(3853-3855)Gaa>Aaa	p.E1285K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1285					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.E735K(2)|p.E1285K(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GGCCATATTTCATTTTTGAAC	0.468000														106			87		0	0	0.000781405	0	0
DSC2	1824	broad.mit.edu	37	18	28660276	28660276	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr18:28660276C>A	uc002kwl.4	-	9	1760	c.1306G>T	c.(1306-1308)Ggt>Tgt	p.G436C	DSC2_uc002kwk.4_Missense_Mutation_p.G436C	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	436	Cadherin 3.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TTAACTACACCAATTTGCAAG	0.383000														46			30		8.58068e-18	9.78563e-17	0.000184323	1	0
PPP1R3F	89801	broad.mit.edu	37	X	49143507	49143507	+	Silent	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chrX:49143507C>T	uc004dnh.2	+	3	2382	c.2355C>T	c.(2353-2355)tcC>tcT	p.S785S	PPP1R3F_uc004dni.3_Silent_p.S439S|PPP1R3F_uc011mnd.2_Silent_p.S456S|PPP1R3F_uc004dnj.2_Silent_p.S439S	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3F (PPP1R3F), transcript variant 1, mRNA.	785						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					GCGGTGTGTCCCTCCTGGTGC	0.617000														10			25		0	0	0.000339439	0	0
DIRC2	84925	broad.mit.edu	37	3	122598219	122598219	+	Silent	SNP	C	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr3:122598219C>A	uc003efw.4	+	8	1570	c.1431C>A	c.(1429-1431)tcC>tcA	p.S477S	DIRC2_uc010hrl.3_Non-coding_Transcript|DIRC2_uc010hrm.3_Silent_p.S315S|BC042374_uc003efx.1_Non-coding_Transcript	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN	Homo sapiens disrupted in renal carcinoma 2 (DIRC2), mRNA.	477					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		TGGTTGTCTCCGTTTAATAGC	0.463000														338			8		0.000274275	0.00306985	0.000274275	1	0
SLC9A5	6553	broad.mit.edu	37	16	67289714	67289714	+	Silent	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:67289714C>T	uc002esm.3	+	4	855	c.792C>T	c.(790-792)ctC>ctT	p.L264L	SLC9A5_uc010cee.3_5'UTR|SLC9A5_uc010vji.2_Intron	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA.	264					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TTGCCTTCCTCCTGGCCCTGA	0.642000														5			7		0	0	8.12818e-05	0	0
SLC27A6	28965	broad.mit.edu	37	5	128326123	128326123	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:128326123G>A	uc003kuy.3	+	4	1331	c.935G>A	c.(934-936)gGa>gAa	p.G312E	SLC27A6_uc003kuz.3_Missense_Mutation_p.G312E	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	312					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CAGTATATTGGAGAACTTTGT	0.343000														31			19		0	0	0.000958276	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1808154	1808154	+	Silent	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr8:1808154C>T	uc003wpr.3	+	3	463	c.285C>T	c.(283-285)atC>atT	p.I95I	ARHGEF10_uc003wpq.1_Silent_p.I119I|ARHGEF10_uc003wps.3_Silent_p.I95I|ARHGEF10_uc003wpt.3_Silent_p.I9I|ARHGEF10_uc010lrd.2_Silent_p.I9I|ARHGEF10_uc003wpu.3_Silent_p.I9I	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	119					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	Rho guanyl-nucleotide exchange factor activity|kinesin binding			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		ATTCTGTCATCGACATCACGC	0.607000														51			37		0	0	0.000437636	0	0
DOCK9	23348	broad.mit.edu	37	13	99515290	99515290	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr13:99515290G>A	uc001vnt.2	-	31	3620	c.3565C>T	c.(3565-3567)Cct>Tct	p.P1189S	DOCK9_uc001vnw.2_Missense_Mutation_p.P1188S|DOCK9_uc021rlw.1_Missense_Mutation_p.P1188S|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Missense_Mutation_p.P1189S|DOCK9_uc010tis.1_Missense_Mutation_p.P1188S|DOCK9_uc010tit.1_Missense_Mutation_p.P1189S|DOCK9_uc010tiq.1_Missense_Mutation_p.P167S|DOCK9_uc010afu.1_Missense_Mutation_p.P1035S	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	1189					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCGTTCACAGGGAAGGGTGAC	0.542000														0			6		0	0	0.000274275	0	0
OBFC1	79991	broad.mit.edu	37	10	105657473	105657473	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr10:105657473G>A	uc001kxl.3	-	5	661	c.586C>T	c.(586-588)Cca>Tca	p.P196S	OBFC1_uc001kxm.3_Missense_Mutation_p.P196S	NM_024928	NP_079204	Q9H668	STN1_HUMAN	Homo sapiens oligonucleotide/oligosaccharide-binding fold containing 1 (OBFC1), mRNA.	196					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		AGGGCGCCTGGATTGCTGCGG	0.453000														44			27		0	0	0.000339439	0	0
LILRB3	11025	broad.mit.edu	37	19	54803962	54803963	+	Missense_Mutation	DNP	GG	AA	AA	rs147630499		TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr19:54803962_54803963GG>AA	uc002qfd.3	-	1	142_143	c.50_51CC>TT	c.(49-51)ccc>cTT	p.P17L	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Missense_Mutation_p.P17L	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	17					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CGTGGGTCCTGGGGTCCAGGCT	0.639000														30			22		0	0	6.4e-05	0	0
RANBP10	57610	broad.mit.edu	37	16	67840347	67840347	+	Silent	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:67840347C>T	uc002eud.3	-	0	209	c.93G>A	c.(91-93)ggG>ggA	p.G31G	RANBP10_uc010ceo.3_5'UTR|RANBP10_uc010vju.2_Silent_p.G31G|RANBP10_uc010vjv.2_5'UTR|RANBP10_uc010vjx.1_Silent_p.G31G|RANBP10_uc010vjy.1_5'UTR|TSNAXIP1_uc010cep.2_5'Flank|TSNAXIP1_uc010vjz.1_5'Flank|TSNAXIP1_uc002euf.4_5'Flank|TSNAXIP1_uc010vka.2_5'Flank|TSNAXIP1_uc010vkb.2_5'Flank|TSNAXIP1_uc002eug.4_5'Flank|TSNAXIP1_uc002euh.4_5'Flank|TSNAXIP1_uc002eui.4_5'Flank|TSNAXIP1_uc002euj.3_5'Flank	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	Homo sapiens RAN binding protein 10 (RANBP10), mRNA.	31										endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		GCTCCTGCTCCCCAGGGGACG	0.711000														8			3		0	0	0.00024832	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29897036	29897036	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:29897036G>T	uc010vec.2	-	7	1488	c.1243C>A	c.(1243-1245)Ccc>Acc	p.P415T	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.P345T|SEZ6L2_uc002dur.4_Missense_Mutation_p.P345T|SEZ6L2_uc002duq.4_Missense_Mutation_p.P415T|SEZ6L2_uc010ved.2_Missense_Mutation_p.P371T|SEZ6L2_uc002dus.4_Missense_Mutation_p.P301T	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	415	CUB 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TAGATCACGGGGGATAGGGGG	0.612000														19			25		1.17739e-12	1.33641e-11	0.000878237	1	0
PDGFRA	5156	broad.mit.edu	37	4	55133778	55133778	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr4:55133778G>A	uc003han.4	+	6	1322	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.E225K|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	331	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.E331*(2)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CAACCTGCATGAAGTCAAACA	0.428000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				36			41		0	0	0.000319135	0	0
TMC8	147138	broad.mit.edu	37	17	76127798	76127798	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:76127798G>A	uc002jup.2	+	1	511	c.129G>A	c.(127-129)atG>atA	p.M43I	TMC6_uc010dhf.1_5'Flank|TMC6_uc002juk.2_5'Flank|TMC6_uc010dhg.1_5'Flank|TMC6_uc002jul.1_Intron|TMC6_uc002jun.4_5'Flank|TMC6_uc002juo.2_5'Flank|TMC6_uc010wtq.1_5'Flank|TMC8_uc010dhh.1_Missense_Mutation_p.M43I|TMC8_uc002juq.2_Intron|TMC8_uc010wtr.1_5'Flank	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	Homo sapiens transmembrane channel-like 8 (TMC8), mRNA.	43						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CCTATGCCATGATGGACAAGC	0.741000														5			8		0	0	0.000673444	0	0
RBM33	155435	broad.mit.edu	37	7	155530346	155530346	+	Silent	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:155530346C>T	uc010lqk.1	+	9	1751	c.1383C>T	c.(1381-1383)ttC>ttT	p.F461F	RBM33_uc011kvv.1_Silent_p.F270F	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	Homo sapiens RNA binding motif protein 33 (RBM33), mRNA.	461	Pro-rich.						RNA binding|nucleotide binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		GAGACCCTTTCTTCTTAGGAG	0.512000														9			8		0	0	0.000157383	0	0
AIPL1	23746	broad.mit.edu	37	17	6337367	6337367	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:6337367C>A	uc002gcp.3	-	1	243	c.148G>T	c.(148-150)Gac>Tac	p.D50Y	AIPL1_uc021toq.1_Missense_Mutation_p.D11Y|AIPL1_uc002gcq.3_Intron|AIPL1_uc002gcr.3_Missense_Mutation_p.D50Y|AIPL1_uc010clk.3_Intron|AIPL1_uc010cll.3_Missense_Mutation_p.D50Y|AIPL1_uc021tor.1_Missense_Mutation_p.D50Y|AIPL1_uc002gcs.3_Missense_Mutation_p.D50Y	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN	Homo sapiens aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), transcript variant 1, mRNA.	50					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		CGACTGTCGTCAATGACTGTC	0.547000														23			17		5.03518e-11	5.70181e-10	0.000958276	1	0
SEPHS2	22928	broad.mit.edu	37	16	30455807	30455807	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:30455807G>A	uc021tgl.1	-	0	1418	c.1242C>T	c.(1240-1242)gcC>gcT	p.A414A	SEPHS2_uc002dyh.1_Silent_p.A357A	NM_012248		Q99611	SPS2_HUMAN	Homo sapiens selenophosphate synthetase 2 (SEPHS2), mRNA.	414					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity	p.A414T(1)		breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						CAATGATCCGGGCCGTTCGGT	0.537000														41			34		0	0	0.000814825	0	0
CACNA1G	8913	broad.mit.edu	37	17	48696108	48696108	+	Silent	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:48696108C>T	uc002irk.1	+	32	5892	c.5520C>T	c.(5518-5520)ttC>ttT	p.F1840F	CACNA1G_uc002irj.1_Silent_p.F1806F|CACNA1G_uc002irl.1_Silent_p.F1817F|CACNA1G_uc002irm.1_Silent_p.F1806F|CACNA1G_uc002irn.1_Silent_p.F1799F|CACNA1G_uc002iro.1_Silent_p.F1806F|CACNA1G_uc002irp.1_Silent_p.F1840F|CACNA1G_uc002irq.1_Silent_p.F1817F|CACNA1G_uc002irr.1_Silent_p.F1840F|CACNA1G_uc002irs.1_Silent_p.F1829F|CACNA1G_uc002irt.1_Silent_p.F1822F|CACNA1G_uc002iru.1_Silent_p.F1806F|CACNA1G_uc002irv.1_Silent_p.F1829F|CACNA1G_uc002irw.1_Silent_p.F1817F|CACNA1G_uc002irx.1_Silent_p.F1753F|CACNA1G_uc002iry.1_Silent_p.F1742F|CACNA1G_uc002isg.1_Silent_p.F1701F|CACNA1G_uc002ish.1_Silent_p.F1708F|CACNA1G_uc002isi.1_Silent_p.F1696F|CACNA1G_uc002irz.1_Silent_p.F1746F|CACNA1G_uc002isa.1_Silent_p.F1719F|CACNA1G_uc002isd.1_Silent_p.F1728F|CACNA1G_uc002isb.1_Silent_p.F1760F|CACNA1G_uc002isc.1_Silent_p.F1742F|CACNA1G_uc002ise.1_Silent_p.F1708F|CACNA1G_uc002isf.1_Silent_p.F1735F	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1840					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CGGCCCAGTTCGTGCTAGTCA	0.602000														26			23		0	0	0.00047179	0	0
SNRPA1	6627	broad.mit.edu	37	15	101821958	101821958	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr15:101821958C>T	uc002bww.3	-	8	816	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	SNRPA1_uc002bwx.3_Non-coding_Transcript|SNRPA1_uc010bpc.3_Non-coding_Transcript	NM_003090	NP_003081	P09661	RU2A_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide A' (SNRPA1), mRNA.	247						U2 snRNP|catalytic step 2 spliceosome|nucleoplasm	RNA binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTGTCTTCTTCCATCTCTTCT	0.423000														51			33		0	0	0.000270559	0	0
TTN	7273	broad.mit.edu	37	2	179422954	179422954	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:179422954C>T	uc021vsy.1	-	276	79648	c.79423G>A	c.(79423-79425)Gaa>Aaa	p.E26475K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E20170K|TTN_uc021vta.1_Missense_Mutation_p.E20103K|TTN_uc021vtb.1_Missense_Mutation_p.E19978K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27402	Fibronectin type-III 92.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATATCAATTTCAGGTGGTTCT	0.318000														43			15		0	0	0.000219431	0	0
GOT1	2805	broad.mit.edu	37	10	101163500	101163500	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr10:101163500G>A	uc001kpr.3	-	5	982	c.774C>T	c.(772-774)tcC>tcT	p.S258S		NM_002079	NP_002070	P17174	AATC_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1) (GOT1), mRNA.	258					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CGAAGTTCTTGGAGAAGGACT	0.552000														41			27		0	0	0.000878237	0	0
RUNX1T1	862	broad.mit.edu	37	8	92998456	92998456	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr8:92998456C>T	uc022axs.1	-	8	1539	c.1352G>A	c.(1351-1353)tGg>tAg	p.W451*	RUNX1T1_uc003yfc.2_Nonsense_Mutation_p.W365*|RUNX1T1_uc010mam.3_Nonsense_Mutation_p.W365*|RUNX1T1_uc003yfe.2_Nonsense_Mutation_p.W355*|RUNX1T1_uc003yfd.3_Nonsense_Mutation_p.W392*|RUNX1T1_uc022axo.1_Nonsense_Mutation_p.W392*|RUNX1T1_uc010mao.3_Nonsense_Mutation_p.W365*|RUNX1T1_uc011lgi.2_Nonsense_Mutation_p.W403*|RUNX1T1_uc022axp.1_Nonsense_Mutation_p.W392*|RUNX1T1_uc022axq.1_Nonsense_Mutation_p.W392*|RUNX1T1_uc022axr.1_Nonsense_Mutation_p.W392*|RUNX1T1_uc022axt.1_Nonsense_Mutation_p.W392*|RUNX1T1_uc022axu.1_Nonsense_Mutation_p.W372*|RUNX1T1_uc022axv.1_Nonsense_Mutation_p.W392*|RUNX1T1_uc010man.2_5'UTR|RUNX1T1_uc003yfb.2_Nonsense_Mutation_p.W355*	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	392					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CCGCCGGATCCAGTAATTCAA	0.512000														65			65		0	0	0.000781405	0	0
DNMT3B	1789	broad.mit.edu	37	20	31387068	31387068	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr20:31387068C>T	uc002wyc.3	+	15	2014	c.1693C>T	c.(1693-1695)Cct>Tct	p.P565S	DNMT3B_uc010zty.1_Non-coding_Transcript|DNMT3B_uc002wyd.3_Missense_Mutation_p.P545S|DNMT3B_uc002wye.3_Missense_Mutation_p.P545S|DNMT3B_uc010ztz.2_Missense_Mutation_p.P503S|DNMT3B_uc010zua.2_Missense_Mutation_p.P469S|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Missense_Mutation_p.P557S|DNMT3B_uc002wyg.3_Missense_Mutation_p.P264S|DNMT3B_uc010geg.3_5'Flank|DNMT3B_uc010geh.3_5'Flank	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	565					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAAGCTGTACCCTGCCATTCC	0.602000														16			15		0	0	0.00074312	0	0
APOB	338	broad.mit.edu	37	2	21234370	21234370	+	Silent	SNP	G	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:21234370G>T	uc002red.3	-	25	5498	c.5370C>A	c.(5368-5370)ccC>ccA	p.P1790P		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1790					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCAGAGAATAGGGCTGTAGCT	0.408000														790			17		1.64113e-05	0.000184542	0.000175454	1	0
GMEB2	26205	broad.mit.edu	37	20	62223911	62223911	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr20:62223911G>A	uc002yfp.1	-	6	1283	c.804C>T	c.(802-804)gtC>gtT	p.V268V	GMEB2_uc002yfo.1_Silent_p.V190V|GMEB2_uc002yfq.1_Silent_p.V268V	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	Homo sapiens glucocorticoid modulatory element binding protein 2 (GMEB2), mRNA.	268					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			GAGGGTCCTGGACCCGCTGCT	0.652000														35			13		0	0	0.00010058	0	0
LY6D	8581	broad.mit.edu	37	8	143866801	143866801	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr8:143866801C>T	uc003yxf.1	-	2	299	c.223G>A	c.(223-225)Ggc>Agc	p.G75S		NM_003695	NP_003686	Q14210	LY6D_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus D (LY6D), mRNA.	75	UPAR/Ly6.				cell adhesion	anchored to membrane|membrane fraction|plasma membrane	protein binding			large_intestine(1)|lung(3)|prostate(1)	5	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CTGACCTGGCCTTGCAGGGTG	0.647000														35			9		0	0	0.000274275	0	0
TRANK1	9881	broad.mit.edu	37	3	36874178	36874178	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr3:36874178G>A	uc003cgj.3	-	20	7012	c.6764C>T	c.(6763-6765)tCc>tTc	p.S2255F		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2255					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GAACCGGAAGGATTTGTAATT	0.448000														70			42		0	0	0.000374591	0	0
PCNXL2	80003	broad.mit.edu	37	1	233344336	233344336	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:233344336G>A	uc001hvl.2	-	12	3026	c.2791C>T	c.(2791-2793)Ccc>Tcc	p.P931S	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript|PCNXL2_uc001hvq.1_Missense_Mutation_p.P230S	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	931						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACGTAACTGGGAGGGTGCCTG	0.453000														37			30		0	0	0.00106085	0	0
KIF11	3832	broad.mit.edu	37	10	94410184	94410185	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr10:94410184_94410185GG>TT	uc001kic.3	+	20	3257_3258	c.2949_2950GG>TT	c.(2947-2952)ctgggg>ctTTgg	p.G984W		NM_004523	NP_004514	P52732	KIF11_HUMAN	Homo sapiens kinesin family member 11 (KIF11), mRNA.	984					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGCAGTTCTGGGGCAGTATAC	0.436000														330			9		0	0	6.4e-05	0	0
CDS1	1040	broad.mit.edu	37	4	85530639	85530639	+	Silent	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr4:85530639C>T	uc011ccv.2	+	2	801	c.303C>T	c.(301-303)ttC>ttT	p.F101F		NM_001263	NP_001254	Q92903	CDS1_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 (CDS1), mRNA.	101					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		CGTTGTTTTTCCTGATCATCT	0.348000														67			40		0	0	0.000270559	0	0
ABCC3	8714	broad.mit.edu	37	17	48746561	48746561	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:48746561G>A	uc002isl.3	+	15	2078	c.1998G>A	c.(1996-1998)ggG>ggA	p.G666G		NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	666	ABC transporter 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TGGGCTGTGGGAAGTCCTCCC	0.637000														37			26		0	0	0.000586117	0	0
MYH13	8735	broad.mit.edu	37	17	10209782	10209782	+	Silent	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:10209782C>T	uc002gmk.1	-	36	5550	c.5460G>A	c.(5458-5460)gaG>gaA	p.E1820E		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1820					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTACCCGGTTCTCCAGTTTCT	0.527000														129			86		0	0	0.000781405	0	0
GCOM1	145781	broad.mit.edu	37	15	57910298	57910298	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr15:57910298G>A	uc002aei.3	+	2	361	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	GCOM1_uc002aej.3_Missense_Mutation_p.R77Q|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Missense_Mutation_p.R77Q|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Missense_Mutation_p.R77Q	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	77					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GGTGTGGTGCGAAGATCAGAT	0.408000														32			13		0	0	0.000151284	0	0
SPAG17	200162	broad.mit.edu	37	1	118598527	118598528	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:118598527_118598528CC>TT	uc001ehk.2	-	18	2618_2619	c.2550_2551GG>AA	c.(2548-2553)ttggaa>ttAAaa	p.E851K	SPAG17_uc021oss.1_Intron	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	851						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GCAACAAGTTCCAAATAATTCC	0.317000														43			23		0	0	6.4e-05	0	0
OR5L1	219437	broad.mit.edu	37	11	55578951	55578951	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:55578951G>A	uc001nhw.1	+	0	9	c.9G>A	c.(7-9)aaG>aaA	p.K3K		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				ACATGGGCAAGGAAAACTGCA	0.393000														50			68		0	0	0.000781405	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41019035	41019035	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:41019035C>T	uc003jmj.4	-	24	3017	c.2527G>A	c.(2527-2529)Gaa>Aaa	p.E843K	HEATR7B2_uc003jmi.4_Missense_Mutation_p.E398K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	843							binding	p.L842V(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TTCAGATTTTCCAGAGGTGGA	0.473000														30			21		0	0	0.000229342	0	0
ABCA4	24	broad.mit.edu	37	1	94463528	94463528	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:94463528G>A	uc001dqh.3	-	47	6722	c.6618C>T	c.(6616-6618)ctC>ctT	p.L2206L		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	2206					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCTGGAACTGGAGCATGTTGT	0.592000														23			17		0	0	0.000566183	0	0
CA3	761	broad.mit.edu	37	8	86357411	86357411	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr8:86357411G>A	uc003ydj.3	+	4	554	c.471G>A	c.(469-471)caG>caA	p.Q157Q	CA3_uc011lfv.2_Non-coding_Transcript	NM_005181	NP_005172	P07451	CAH3_HUMAN	Homo sapiens carbonic anhydrase III, muscle specific (CA3), mRNA.	157					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GCGAGTTCCAGATTTTCCTTG	0.323000														47			18		0	0	0.000229342	0	0
WHAMMP3	339005	broad.mit.edu	37	15	23205094	23205094	+	RNA	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr15:23205094G>A	uc001yvg.3	-	1		c.701C>T			WHAMMP3_uc010ayc.3_Non-coding_Transcript|WHAMMP3_uc010ayd.3_Non-coding_Transcript|WHAMMP3_uc010aye.1_Non-coding_Transcript					Homo sapiens WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3 (WHAMMP3), non-coding RNA.																		AGTACTGGAAGAACGTGGTTG	0.373000														22			4		0	0	0.00024832	0	0
FREM2	341640	broad.mit.edu	37	13	39265763	39265763	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr13:39265763G>A	uc001uwv.3	+	0	4591	c.4282G>A	c.(4282-4284)Gga>Aga	p.G1428R		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1428					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.K1427N(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GATAAGTAAGGGAGTGTCCTT	0.403000														15			46		0	0	0.000781405	0	0
SLC30A8	169026	broad.mit.edu	37	8	118169966	118169967	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr8:118169966_118169967GG>TT	uc003yoh.3	+	3	685_686	c.455_456GG>TT	c.(454-456)tgg>tTT	p.W152F	SLC30A8_uc010mcz.3_Missense_Mutation_p.W103F|SLC30A8_uc003yog.3_Missense_Mutation_p.W103F|SLC30A8_uc011lia.2_Missense_Mutation_p.W103F|SLC30A8_uc022bab.1_Missense_Mutation_p.W103F	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	152					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	p.W152L(2)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CTGTGCATCTGGGTGGTGACTG	0.535000														494			10		0	0	6.4e-05	0	0
NKD1	85407	broad.mit.edu	37	16	50664180	50664180	+	Silent	SNP	G	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:50664180G>T	uc002egg.2	+	6	770	c.546G>T	c.(544-546)cgG>cgT	p.R182R		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	Homo sapiens naked cuticle homolog 1 (Drosophila) (NKD1), mRNA.	182	Interaction with DVL1, DVL2 and DVL3 (By similarity).				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AGATGCTGCGGGTAAAGCTCA	0.587000														43			24		1.22574e-08	1.38477e-07	0.000295444	1	0
STAB2	55576	broad.mit.edu	37	12	104157375	104157375	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:104157375G>A	uc001tjw.3	+	67	7780	c.7594G>A	c.(7594-7596)Gac>Aac	p.D2532N	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	2532					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACCTTCCTACGACCCCTTCAC	0.478000														52			77		0	0	0.000781405	0	0
DPF2	5977	broad.mit.edu	37	11	65108974	65108974	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:65108974C>T	uc001odm.3	+	3	539	c.406C>T	c.(406-408)Ccc>Tcc	p.P136S	DPF2_uc010roe.2_Missense_Mutation_p.P136S	NM_006268	NP_006259	Q92785	REQU_HUMAN	Homo sapiens D4, zinc and double PHD fingers family 2 (DPF2), mRNA.	136					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						TGCCCCGGATCCCCGAGTTGA	0.562000														17			23		0	0	0.000720815	0	0
FAM155A	728215	broad.mit.edu	37	13	107822868	107822868	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr13:107822868C>T	uc001vql.3	-	2	1870	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA.	452						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GTTGAGTTTTCTTCCAGCGTG	0.517000														23			21		0	0	0.000375601	0	0
APOB	338	broad.mit.edu	37	2	21231912	21231912	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:21231912C>T	uc002red.3	-	25	7956	c.7828G>A	c.(7828-7830)Gct>Act	p.A2610T		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2610					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGGAAGGTAGCTTTCTGAAGA	0.408000														282			266		0	0	0.000781405	0	0
PFAS	5198	broad.mit.edu	37	17	8157564	8157564	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:8157564C>T	uc002gkr.3	+	2	364	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W	PFAS_uc010vuv.2_5'UTR	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	75					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TGATGTTGCTCGGGAGTCCTG	0.582000														40			25		0	0	0.00047179	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70585398	70585398	+	Silent	SNP	A	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr8:70585398A>T	uc003xyl.3	-	9	2960	c.2253T>A	c.(2251-2253)atT>atA	p.I751I	SLCO5A1_uc010lzb.3_Silent_p.I696I|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_3'UTR	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	751						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GAAAAATAAAAATAAACCCAA	0.488000														69			43		0	0	0.000509022	0	0
DECR2	26063	broad.mit.edu	37	16	461508	461508	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:461508G>A	uc002chb.3	+	7	915	c.809G>A	c.(808-810)gGg>gAg	p.G270E	DECR2_uc002chc.3_Missense_Mutation_p.G186E|DECR2_uc002chd.3_Missense_Mutation_p.G186E|DECR2_uc002che.1_Non-coding_Transcript	NM_020664	NP_065715	Q9NUI1	DECR2_HUMAN	Homo sapiens 2,4-dienoyl CoA reductase 2, peroxisomal (DECR2), mRNA.	270						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				GCCGATGGCGGGGCATGGTTG	0.622000														43			20		0	0	0.000586117	0	0
DDX39B	7919	broad.mit.edu	37	6	31508159	31508159	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr6:31508159G>A	uc003ntt.3	-	1	809	c.151C>T	c.(151-153)Ctg>Ttg	p.L51L	DDX39B_uc003ntu.3_Silent_p.L51L|DDX39B_uc011dnn.2_Silent_p.S46S|DDX39B_uc003ntv.3_Silent_p.L51L|DDX39B_uc003ntw.2_Silent_p.L51L|DDX39B_uc003ntx.2_Silent_p.L51L|DDX39B_uc011dno.1_Silent_p.S46S|DDX39B_uc011dnp.1_Silent_p.S46S|DDX39B_uc011dnq.1_Non-coding_Transcript	NM_004640	NP_542165	Q13838	DX39B_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B), transcript variant 1, mRNA.	51					RNA secondary structure unwinding|intronless viral mRNA export from host nucleus|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent RNA helicase activity|ATP-dependent protein binding|U4 snRNA binding|U6 snRNA binding|identical protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GGCTTGAGCAGGAAGTCACGA	0.557000														11			23		0	0	0.000375601	0	0
NRP2	8828	broad.mit.edu	37	2	206610481	206610481	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:206610481G>A	uc002vaw.3	+	9	2444	c.1653G>A	c.(1651-1653)ggG>ggA	p.G551G	NRP2_uc002vau.3_Silent_p.G551G|NRP2_uc002vav.3_Silent_p.G551G|NRP2_uc002vax.3_Silent_p.G551G|NRP2_uc002vay.3_Silent_p.G551G	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	551	F5/8 type C 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TGTTCGAAGGGAACATGCACT	0.602000														27			13		0	0	0.000151284	0	0
COPG2	26958	broad.mit.edu	37	7	130295969	130295970	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:130295969_130295970CC>AA	uc003vqh.1	-	8	681_682	c.591_592GG>TT	c.(589-594)ttggga>ttTTga	p.197_198LG>F*		NM_012133	NP_036265	Q9UBF2	COPG2_HUMAN	Homo sapiens coatomer protein complex, subunit gamma 2 (COPG2), mRNA.	197					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity			large_intestine(1)	1	Melanoma(18;0.0435)					TACAGGACTCCCAATGCATGGT	0.342000														407			9		0	0	6.4e-05	0	0
BIRC3	330	broad.mit.edu	37	11	102195665	102195665	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:102195665C>T	uc001pgx.3	+	1	3220	c.425C>T	c.(424-426)cCa>cTa	p.P142L		NM_182962	NP_892007	Q13489	BIRC3_HUMAN	Homo sapiens baculoviral IAP repeat containing 3 (BIRC3), transcript variant 2, mRNA.	142					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TCAAACTCTCCATCAAATCCT	0.393000			T	MALT1	MALT									43			68		0	0	0.000781405	0	0
FAT4	79633	broad.mit.edu	37	4	126408660	126408660	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr4:126408660G>A	uc003ifj.4	+	15	12977	c.12977G>A	c.(12976-12978)aGa>aAa	p.R4326K	FAT4_uc011cgp.2_Missense_Mutation_p.R2567K|FAT4_uc003ifi.1_Missense_Mutation_p.R1804K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4326	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATATATAACAGAGATATTATC	0.418000														51			33		0	0	0.00111076	0	0
GCOM1	145781	broad.mit.edu	37	15	57921995	57921995	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr15:57921995G>A	uc002aei.3	+	5	752	c.621G>A	c.(619-621)agG>agA	p.R207R	GCOM1_uc002aej.3_Silent_p.R207R|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Silent_p.R207R|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Silent_p.R207R	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	207					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						ACAAGCTGAGGGAAAAGCAGA	0.418000														26			15		0	0	0.000219431	0	0
SOX6	55553	broad.mit.edu	37	11	16007843	16007843	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:16007843G>A	uc001mme.3	-	14	2162	c.2129C>T	c.(2128-2130)aCc>aTc	p.T710I	SOX6_uc001mmd.3_Missense_Mutation_p.T673I|SOX6_uc001mmf.3_Missense_Mutation_p.T670I|SOX6_uc001mmg.3_Missense_Mutation_p.T677I	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	Homo sapiens SRY (sex determining region Y)-box 6 (SOX6), transcript variant 4, mRNA.	697					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	p.T673I(1)|p.T677I(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						AACAATGCAGGTGCGTTTCGG	0.468000														103			14		0	0	0.000422831	0	0
ZAN	7455	broad.mit.edu	37	7	100349564	100349564	+	Silent	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:100349564C>T	uc003uwj.3	+	13	2001	c.1836C>T	c.(1834-1836)ccC>ccT	p.P612P	ZAN_uc003uwk.3_Silent_p.P612P|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	612	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CAGAAAAACCCAACATGCCCT	0.478000														20			25		0	0	0.000184323	0	0
PODNL1	79883	broad.mit.edu	37	19	14046617	14046617	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr19:14046617G>A	uc002mxr.3	-	4	706	c.432C>T	c.(430-432)ccC>ccT	p.P144P	PODNL1_uc010xni.2_Silent_p.P62P|PODNL1_uc010xnj.2_Silent_p.P142P|PODNL1_uc002mxs.3_Intron	NM_024825	NP_079101	Q6PEZ8	PONL1_HUMAN	Homo sapiens podocan-like 1 (PODNL1), transcript variant 1, mRNA.	144	Leu-rich.					proteinaceous extracellular matrix				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			GGAGGGACCGGGGCAGAAACT	0.657000														8			4		0	0	0.00024832	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8670020	8670020	+	Silent	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr19:8670020C>T	uc002mkj.1	-	3	586	c.312G>A	c.(310-312)gtG>gtA	p.V104V	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	104					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TCCAGTACTCCACGGAGACGT	0.687000														24			17		0	0	0.00074312	0	0
C4orf45	152940	broad.mit.edu	37	4	159894284	159894284	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr4:159894284G>A	uc003iqf.1	-	1	329	c.244C>T	c.(244-246)Cca>Tca	p.P82S	C4orf45_uc010iqt.1_Intron	NM_152543	NP_689756	Q96LM5	CD045_HUMAN	Homo sapiens chromosome 4 open reading frame 45 (C4orf45), mRNA.	82										large_intestine(2)|lung(3)	5						TTATACTGTGGTATTCTCCAA	0.348000														28			16		0	0	0.00074312	0	0
CAPSL	133690	broad.mit.edu	37	5	35910006	35910006	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:35910006G>A	uc003jjt.1	-	3	582	c.487C>T	c.(487-489)Ctg>Ttg	p.L163L	CAPSL_uc003jju.1_Silent_p.L163L	NM_001042625	NP_653248	Q8WWF8	CAPSL_HUMAN	Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA.	163	EF-hand 4.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			AAGTTATCCAGAAATTTCCTA	0.358000														89			62		0	0	0.000781405	0	0
DNAH10	196385	broad.mit.edu	37	12	124371734	124371734	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:124371734C>T	uc001uft.4	+	50	8540	c.8515C>T	c.(8515-8517)Cgg>Tgg	p.R2839W		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2839	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAACAGTTTCCGGGAAGACCT	0.547000														4			6		0	0	3.59834e-05	0	0
FBXO11	80204	broad.mit.edu	37	2	48047553	48047553	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:48047553G>A	uc002rwe.3	-	13	1818	c.1745C>T	c.(1744-1746)cCa>cTa	p.P582L	FBXO11_uc010fbl.3_Missense_Mutation_p.P498L|FBXO11_uc002rwg.2_Missense_Mutation_p.P582L|FBXO11_uc010fbk.3_Intron|FBXO11_uc021vhe.1_Missense_Mutation_p.P382L	NM_001190274	NP_001177203	Q86XK2	FBX11_HUMAN	Homo sapiens F-box protein 11 (FBXO11), transcript variant 4, mRNA.	582					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCGAACAATTGGACAACTGTT	0.358000			"""Mis, F, D"""		DLBCL									31			32		0	0	0.00111076	0	0
DNAJC11	55735	broad.mit.edu	37	1	6696305	6696305	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:6696305G>A	uc001aof.2	-	15	1631	c.1525_splice	c.e15-1	p.A509_splice	DNAJC11_uc001aog.2_Splice_Site_p.A457_splice|DNAJC11_uc010nzu.1_Splice_Site_p.A419_splice	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.	509					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCAGCCCAGCCTGTAACAA	0.547000														27			18		0	0	0.000175454	0	0
FLT1	2321	broad.mit.edu	37	13	28893575	28893575	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr13:28893575C>T	uc001usb.3	-	23	3556	c.3271G>A	c.(3271-3273)Gaa>Aaa	p.E1091K	FLT1_uc010aap.2_Missense_Mutation_p.E96K|FLT1_uc010aaq.2_Missense_Mutation_p.E216K|FLT1_uc001usa.3_Missense_Mutation_p.E309K	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	1091	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GAGAAGATTTCCCACAGCAAT	0.433000														15			4		0	0	0.00024832	0	0
SPPL2B	56928	broad.mit.edu	37	19	2344608	2344608	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr19:2344608C>T	uc002lvs.3	+	12	1311	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	SPPL2B_uc002lvr.3_Missense_Mutation_p.R411W	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN	Homo sapiens signal peptide peptidase-like 2B (SPPL2B), transcript variant 2, mRNA.	412						Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGTGTGACCGGCCCTTCTC	0.652000														15			10		0	0	0.000673444	0	0
UNC13C	440279	broad.mit.edu	37	15	54306296	54306296	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr15:54306296G>A	uc021smr.1	+	0	1196	c.1196G>A	c.(1195-1197)gGa>gAa	p.G399E	UNC13C_uc021sms.1_Missense_Mutation_p.G399E	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	399					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAACTCAAAGGAACAGGCATT	0.408000														67			36		0	0	0.00111076	0	0
GABRE	2564	broad.mit.edu	37	X	151124259	151124259	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chrX:151124259G>A	uc004ffi.3	-	6	912	c.858C>T	c.(856-858)gtC>gtT	p.V286V	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	286					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.R286H(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CGGAAGAAGGGACATAGTTTT	0.468000														14			66		0	0	0.000781405	0	0
AHNAK	79026	broad.mit.edu	37	11	62292274	62292274	+	Silent	SNP	A	G	G			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:62292274A>G	uc001ntl.3	-	4	9915	c.9615T>C	c.(9613-9615)ccT>ccC	p.P3205P	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	3205					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCTTGAATTTAGGGCCCTTCA	0.458000														50			80		0	0	0.000781405	0	0
CYP39A1	51302	broad.mit.edu	37	6	46609919	46609919	+	Silent	SNP	T	C	C			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr6:46609919T>C	uc003oyf.1	-	1	498	c.294A>G	c.(292-294)caA>caG	p.Q98Q	CYP39A1_uc011dwa.1_Silent_p.Q98Q|CYP39A1_uc010jzd.1_5'UTR	NM_016593	NP_057677	Q9NYL5	CP39A_HUMAN	Homo sapiens cytochrome P450, family 39, subfamily A, polypeptide 1 (CYP39A1), mRNA.	98					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						AAACGATATTTTGCACTGCTA	0.333000														5			33		0	0	0.000814825	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138774396	138774396	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:138774396G>A	uc003vun.3	-	1	806	c.418C>T	c.(418-420)Caa>Taa	p.Q140*	ZC3HAV1_uc003vup.3_Nonsense_Mutation_p.Q140*	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.	140					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GGATCACTTTGGAGGAGGAGC	0.408000														32			35		0	0	0.000953801	0	0
SIX6	4990	broad.mit.edu	37	14	60976434	60976434	+	Silent	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr14:60976434C>T	uc001xfa.4	+	0	497	c.318C>T	c.(316-318)ccC>ccT	p.P106P		NM_007374	NP_031400	O95475	SIX6_HUMAN	Homo sapiens SIX homeobox 6 (SIX6), mRNA.	106					organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		GTGGAAGACCCCTGGGACCTG	0.587000														15			15		0	0	0.000219431	0	0
NPAS4	266743	broad.mit.edu	37	11	66192366	66192366	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:66192366G>A	uc001ohx.1	+	6	2181	c.2005G>A	c.(2005-2007)Gac>Aac	p.D669N	NPAS4_uc010rpc.1_Missense_Mutation_p.D459N	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	669					transcription, DNA-dependent		DNA binding|signal transducer activity	p.D669D(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GGAGCCCCTGGACTCCAACCT	0.607000														86			19		0	0	0.000132079	0	0
LCE2A	353139	broad.mit.edu	37	1	152671548	152671548	+	Silent	SNP	G	A	A	rs61812671		TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:152671548G>A	uc021oze.1	+	0	171	c.171G>A	c.(169-171)ggG>ggA	p.G57G	LCE2A_uc001faj.3_Silent_p.G57G	NM_178428	NP_848515	Q5TA79	LCE2A_HUMAN	Homo sapiens late cornified envelope 2A (LCE2A), mRNA.	57	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(4)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGCTCTGGGGGCTGCTGCA	0.682000														48			29		0	0	0.000184323	0	0
DNAH3	55567	broad.mit.edu	37	16	20963831	20963831	+	Silent	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:20963831C>T	uc010vbe.2	-	55	11112	c.11112G>A	c.(11110-11112)agG>agA	p.R3704R	DNAH3_uc010vbd.2_Silent_p.R1139R	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3704	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACATACTAATCCTCAGGTCAG	0.468000														31			18		0	0	0.000132079	0	0
KBTBD2	25948	broad.mit.edu	37	7	32909045	32909045	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:32909045G>A	uc003tdb.2	-	3	2443	c.1784C>T	c.(1783-1785)cCa>cTa	p.P595L	AVL9_uc011kai.2_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 2 (KBTBD2), mRNA.	595										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			TGGTTTCCATGGAGACTCTTC	0.468000														106			62		0	0	0.000781405	0	0
CNOT6	57472	broad.mit.edu	37	5	179992944	179992944	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:179992944C>G	uc003mlx.3	+	6	1033	c.684C>G	c.(682-684)atC>atG	p.I228M	CNOT6_uc010jld.3_Missense_Mutation_p.I228M|CNOT6_uc010jle.3_Missense_Mutation_p.I223M	NM_015455	NP_056270	Q9ULM6	CNOT6_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6 (CNOT6), mRNA.	228					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|exonuclease activity|metal ion binding|protein binding	p.I228I(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		TTCAAGAAATCTTGAGCTGCA	0.428000														27			12		0	0	0.00010058	0	0
CD200	4345	broad.mit.edu	37	3	112068651	112068651	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr3:112068651C>T	uc003dyw.3	+	5	1006	c.862C>T	c.(862-864)Cgg>Tgg	p.R288W	CD200_uc010hqd.1_Missense_Mutation_p.R147W|CD200_uc003dyx.3_Missense_Mutation_p.R263W|CD200_uc003dyz.3_Missense_Mutation_p.R189W|CD200_uc003dyy.3_Missense_Mutation_p.R147W	NM_001004196	NP_001004196	P41217	OX2G_HUMAN	Homo sapiens CD200 molecule (CD200), transcript variant 2, mRNA.	263					regulation of immune response	integral to plasma membrane		p.R288R(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				GAAACGTCACCGGAATCAGGA	0.358000														41			33		0	0	0.00058488	0	0
DHX15	1665	broad.mit.edu	37	4	24534538	24534539	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr4:24534538_24534539CC>AA	uc003gqx.3	-	11	2216_2217	c.2048_2049GG>TT	c.(2047-2049)agg>aTT	p.R683I	DHX15_uc003gqv.3_Missense_Mutation_p.R89I|DHX15_uc003gqw.3_Missense_Mutation_p.R106I	NM_001358	NP_001349	O43143	DHX15_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 15 (DHX15), mRNA.	683					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				TATAATAGTCCCTGCTTGTAAA	0.371000														270			8		0	0	6.4e-05	0	0
TNRC6B	23112	broad.mit.edu	37	22	40681769	40681769	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr22:40681769C>T	uc011aor.2	+	11	3914	c.3703C>T	c.(3703-3705)Ccc>Tcc	p.P1235S	TNRC6B_uc003aym.3_Missense_Mutation_p.P431S|TNRC6B_uc003ayn.4_Missense_Mutation_p.P1125S|TNRC6B_uc003ayo.3_Missense_Mutation_p.P982S	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	1235					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						GTTTATTTCCCCCCAGGTAAG	0.448000														149			52		0	0	0.000781405	0	0
GUCY2C	2984	broad.mit.edu	37	12	14829831	14829831	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:14829831C>T	uc001rcd.3	-	6	1042	c.905G>A	c.(904-906)gGg>gAg	p.G302E	GUCY2C_uc009zhz.2_Missense_Mutation_p.G302E	NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	302					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						AAGGGAATTCCCAGGAGACAG	0.348000														10			20		0	0	0.000229342	0	0
NDUFB9	4715	broad.mit.edu	37	8	125551344	125551344	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr8:125551344C>T	uc011lim.1	+	1	1	c.-84_splice	c.e1-1		TATDN1_uc003yre.2_5'Flank|TATDN1_uc003yrd.2_5'Flank|TATDN1_uc010mdm.2_5'Flank|NDUFB9_uc003yrg.4_Splice_Site	NM_005005	NP_004996	Q9Y6M9	NDUB9_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa (NDUFB9), nuclear gene encoding mitochondrial protein, mRNA.						mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.?(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	GCAACTCCGCCCTTCCGGCTG	0.662000														25			13		0	0	0.00010058	0	0
PADI3	51702	broad.mit.edu	37	1	17593216	17593216	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:17593216G>A	uc001bai.3	+	4	451	c.411G>A	c.(409-411)cgG>cgA	p.R137R		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	137					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	ATTGGCAGCGGCAGTGGGTCT	0.587000														44			39		0	0	0.000270559	0	0
HTR7	3363	broad.mit.edu	37	10	92509229	92509229	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr10:92509229C>T	uc001kha.3	-	1	905	c.662G>A	c.(661-663)tGg>tAg	p.W221*	HTR7_uc001kgz.3_Nonsense_Mutation_p.W221*|HTR7_uc001khb.3_Nonsense_Mutation_p.W221*	NM_019859	NP_062873	P34969	5HT7R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA.	221					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	ATTCTGAGCCCATCCAAAGAG	0.488000														62			28		0	0	0.00106085	0	0
APBB1IP	54518	broad.mit.edu	37	10	26802512	26802512	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr10:26802512G>A	uc001iss.3	+	7	1057	c.736G>A	c.(736-738)Gac>Aac	p.D246N	APBB1IP_uc009xks.1_Missense_Mutation_p.D246N	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	246	Ras-associating.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AGTCTTATCAGACTGGACAAG	0.348000														47			45		0	0	0.000437636	0	0
LEPREL1	55214	broad.mit.edu	37	3	189713218	189713218	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr3:189713218T>C	uc011bsk.2	-	1	882	c.494A>G	c.(493-495)gAa>gGa	p.E165G	LEPREL1_uc003fsg.3_5'UTR	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	165					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	p.L164>?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CACTGCTTTTTCGAGCTGGTT	0.398000														44			19		0	0	0.000229342	0	0
KRTAP4-4	84616	broad.mit.edu	37	17	39316857	39316857	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:39316857G>A	uc002hwc.3	-	0	127	c.87C>T	c.(85-87)acC>acT	p.T29T		NM_032524	NP_115913	Q9BYR3	KRA44_HUMAN	Homo sapiens keratin associated protein 4-4 (KRTAP4-4), mRNA.	29	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].					keratin filament				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			TCCTGCAGCAGGTGGTCTGGC	0.642000														40			38		0	0	0.000319135	0	0
LCTL	197021	broad.mit.edu	37	15	66845553	66845554	+	Missense_Mutation	DNP	CG	AT	AT	rs149533187	byFrequency	TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr15:66845553_66845554CG>AT	uc002aqc.3	-	8	1097_1098	c.965_966CG>AT	c.(964-966)ccg>cAT	p.P322H	LCTL_uc002aqd.4_Missense_Mutation_p.P149H|LCTL_uc010bhw.3_Missense_Mutation_p.P20H	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	Homo sapiens lactase-like (LCTL), mRNA.	322					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTGAGAACACCGGTAACCTCGA	0.436000														181			9		0	0	6.4e-05	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325488	150325488	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:150325488G>A	uc022apv.1	-	2	888	c.408C>T	c.(406-408)ttC>ttT	p.F136F	GIMAP6_uc003whn.3_Silent_p.F66F|GIMAP6_uc003whm.3_Intron	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	66							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTTTAGACTCGAAGACGTCCC	0.552000														134			106		0	0	0.000781405	0	0
ICA1	3382	broad.mit.edu	37	7	8167536	8167536	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:8167536G>T	uc003sro.4	-	12	1433	c.1297C>A	c.(1297-1299)Caa>Aaa	p.Q433K	ICA1_uc010ktr.3_Missense_Mutation_p.Q462K|ICA1_uc003srm.3_Missense_Mutation_p.Q433K|ICA1_uc003srn.4_Missense_Mutation_p.Q359K|ICA1_uc003srq.3_Missense_Mutation_p.Q433K|ICA1_uc003srr.3_Missense_Mutation_p.Q432K|ICA1_uc010kts.3_Non-coding_Transcript	NM_001136020	NP_071682	Q05084	ICA69_HUMAN	Homo sapiens islet cell autoantigen 1, 69kDa (ICA1), mRNA.	433					neurotransmitter transport	Golgi membrane|cell junction|cytosol|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		p.Q433K(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TTCATATTTTGGTCTAAAAGC	0.488000														377			7		0.000442599	0.00494236	0.000442599	1	0
EPHB6	2051	broad.mit.edu	37	7	142566883	142566883	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:142566883C>T	uc011kst.2	+	15	3227	c.2440C>T	c.(2440-2442)Ctt>Ttt	p.L814F	EPHB6_uc011ksu.2_Missense_Mutation_p.L814F|EPHB6_uc003wbs.3_Missense_Mutation_p.L522F|EPHB6_uc003wbt.3_Missense_Mutation_p.L288F|EPHB6_uc003wbu.3_Missense_Mutation_p.L522F|EPHB6_uc003wbv.3_Missense_Mutation_p.L198F	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	814	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGTGGCCCGTCTTGGCCACAG	0.627000														36			11		0	0	0.000673444	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37199527	37199527	+	RNA	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:37199527C>T	uc002hrd.1	+	2		c.2680C>T								Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA.																		AGTTTTTACACAAGTTGTAAG	0.373000														172			7		0	0	8.12818e-05	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748201	19748201	+	Silent	SNP	C	T	T	rs139947287	byFrequency	TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr13:19748201C>T	uc009zzj.3	-	4	1260	c.1155G>A	c.(1153-1155)gcG>gcA	p.A385A		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	385					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.A385V(2)|p.A385E(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CCCAGGCCTCCGCGATGGCCG	0.627000														18			31		0	0	0.000279167	0	0
FLJ43860	389690	broad.mit.edu	37	8	142487573	142487573	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr8:142487573C>T	uc003ywi.2	-	11	1456	c.1375G>A	c.(1375-1377)Gag>Aag	p.E459K	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	459							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGCTCCTTCTCCATCAAAACC	0.667000														18			33		0	0	0.00058488	0	0
ACBD4	79777	broad.mit.edu	37	17	43215180	43215180	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:43215180C>A	uc002iid.2	+	6	900	c.556C>A	c.(556-558)Cag>Aag	p.Q186K	ACBD4_uc010wjj.2_Missense_Mutation_p.S198R|ACBD4_uc002iie.3_Missense_Mutation_p.S198R|ACBD4_uc002iif.3_Missense_Mutation_p.Q186K|ACBD4_uc002iic.3_Missense_Mutation_p.Q186K|ACBD4_uc010dae.3_Missense_Mutation_p.S120R	NM_001135707	NP_001129179	Q8NC06	ACBD4_HUMAN	Homo sapiens acyl-CoA binding domain containing 4 (ACBD4), transcript variant 5, mRNA.	186							fatty-acyl-CoA binding			kidney(1)|lung(3)|ovary(1)	5						TTCCCTGGAGCAGCTGGAGCC	0.607000														49			35		1.36161e-19	1.5565e-18	0.000814825	1	0
NOS1	4842	broad.mit.edu	37	12	117655959	117655959	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:117655959C>T	uc001twn.2	-	28	4994	c.4283G>A	c.(4282-4284)cGa>cAa	p.R1428Q	NOS1_uc021ren.1_Missense_Mutation_p.R1058Q|NOS1_uc021reo.1_Missense_Mutation_p.R1058Q|NOS1_uc001twm.2_Missense_Mutation_p.R1394Q	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1394					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.T1428T(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CTCATGGTATCGGTTGTCATC	0.473000														74			99		0	0	0.000781405	0	0
YLPM1	56252	broad.mit.edu	37	14	75266107	75266107	+	Silent	SNP	T	G	G			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr14:75266107T>G	uc001xqj.4	+	4	4231	c.4107T>G	c.(4105-4107)ggT>ggG	p.G1369G	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	1174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GTGATAGGGGTGAGTTGAGGA	0.473000														132			75		0	0	0.000781405	0	0
MYO18A	399687	broad.mit.edu	37	17	27493685	27493686	+	Silent	DNP	GG	AA	AA			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:27493685_27493686GG>AA	uc002hdt.1	-	1	431_432	c.273_274CC>TT	c.(271-276)atcctg>atTTtg	p.91_92IL>IL	MYO18A_uc010csa.1_Silent_p.91_92IL>IL|MYO18A_uc002hdu.1_Silent_p.91_92IL>IL	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	91					DNA metabolic process|anti-apoptosis	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CCCGAGTCCAGGATGACGCTGC	0.624000														22			15		0	0	6.4e-05	0	0
ATP10A	57194	broad.mit.edu	37	15	25959322	25959322	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr15:25959322G>A	uc010ayu.3	-	9	1949	c.1843C>T	c.(1843-1845)Ccc>Tcc	p.P615S		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	615					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AGGCAGCTGGGTGTGAACCTC	0.607000														46			24		0	0	0.000586117	0	0
TOX	9760	broad.mit.edu	37	8	59750747	59750747	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr8:59750747G>A	uc003xtw.1	-	4	1038	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C		NM_014729	NP_055544	O94900	TOX_HUMAN	Homo sapiens thymocyte selection-associated high mobility group box (TOX), mRNA.	273						nucleus	DNA binding	p.F272F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TGAGTATCACGAAAGAATAAC	0.468000														82			63		0	0	0.000781405	0	0
CILP	8483	broad.mit.edu	37	15	65499217	65499217	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr15:65499217G>A	uc002aon.2	-	3	508	c.327C>T	c.(325-327)gtC>gtT	p.V109V		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	109					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GACTACCATGGACCACCTGGC	0.617000														27			18		0	0	0.00074312	0	0
GPR148	344561	broad.mit.edu	37	2	131487557	131487557	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:131487557T>A	uc002trv.2	+	0	915	c.833T>A	c.(832-834)gTg>gAg	p.V278E		NM_207364	NP_997247	Q8TDV2	GP148_HUMAN	Homo sapiens G protein-coupled receptor 148 (GPR148), mRNA.	278						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					AGCACAGGGGTGGTGTTCTCC	0.577000														56			59		0	0	0.000781405	0	0
CPNE5	57699	broad.mit.edu	37	6	36712904	36712904	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr6:36712904C>T	uc003omr.1	-	17	1419	c.1352G>A	c.(1351-1353)gGc>gAc	p.G451D	CPNE5_uc003omp.1_Missense_Mutation_p.G159D|CPNE5_uc010jwn.1_Missense_Mutation_p.G101D|CPNE5_uc003omq.1_Missense_Mutation_p.G101D	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	Homo sapiens copine V (CPNE5), mRNA.	451	VWFA.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GTACTGGGAGCCATCCTGCAC	0.602000														3			16		0	0	0.00074312	0	0
FLG	2312	broad.mit.edu	37	1	152275651	152275651	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:152275651G>A	uc001ezu.1	-	2	11747	c.11711C>T	c.(11710-11712)tCc>tTc	p.S3904F		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3904	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCGGTGAGAGGATCCGGGGTG	0.507000									Ichthyosis					30			28		0	0	0.000720815	0	0
SNCAIP	9627	broad.mit.edu	37	5	121787062	121787062	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:121787062G>A	uc003ksw.1	+	9	2726	c.2520G>A	c.(2518-2520)aaG>aaA	p.K840K	SNCAIP_uc011cwl.1_Silent_p.K398K|SNCAIP_uc003ksy.1_Silent_p.K474K|SNCAIP_uc003ksx.1_Silent_p.K887K|SNCAIP_uc003ksz.1_Silent_p.K474K|SNCAIP_uc010jcu.2_Silent_p.K436K|SNCAIP_uc011cwm.1_Silent_p.K474K|SNCAIP_uc003kta.1_Silent_p.K472K|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Silent_p.K534K|SNCAIP_uc010jcx.1_Silent_p.K780K|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Silent_p.K356K	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	840					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		ACAAAGATAAGGGCAGGACTC	0.483000														43			25		0	0	0.00106085	0	0
NEK5	341676	broad.mit.edu	37	13	52639700	52639700	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr13:52639700C>T	uc001vge.3	-	21	2110	c.1970G>A	c.(1969-1971)tGg>tAg	p.W657*		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA.	657							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TCCTCCATCCCACTGCCTCCT	0.542000														11			38		0	0	0.000270559	0	0
WBP11	51729	broad.mit.edu	37	12	14940099	14940099	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:14940099G>A	uc001rci.3	-	11	1987	c.1826C>T	c.(1825-1827)gCc>gTc	p.A609V		NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	Homo sapiens WW domain binding protein 11 (WBP11), mRNA.	609					RNA splicing|mRNA processing|rRNA processing	cytoplasm	WW domain binding|single-stranded DNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						TGCTGCTTTGGCAAGAGGCAC	0.488000														57			11		0	0	0.00010058	0	0
ARFGAP1	55738	broad.mit.edu	37	20	61910291	61910291	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr20:61910291C>T	uc002yem.3	+	6	683	c.571C>T	c.(571-573)Ccg>Tcg	p.P191S	ARFGAP1_uc011aas.1_Missense_Mutation_p.P138S|ARFGAP1_uc011aat.1_Missense_Mutation_p.P78S|ARFGAP1_uc002yel.3_Missense_Mutation_p.P191S|ARFGAP1_uc002yen.3_Missense_Mutation_p.P191S	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 1 (ARFGAP1), transcript variant 1, mRNA.	191					COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	Golgi-associated vesicle membrane|cytosol	ARF GTPase activator activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					GAACACGCCACCGCCTCAGAA	0.597000														25			15		0	0	0.000566183	0	0
DNAH7	56171	broad.mit.edu	37	2	196837011	196837011	+	Silent	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:196837011C>T	uc002utj.4	-	15	2114	c.2013G>A	c.(2011-2013)agG>agA	p.R671R		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	671	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TAATGATTTTCCTGTGTTCTT	0.328000														48			33		0	0	0.000409698	0	0
DNAH10	196385	broad.mit.edu	37	12	124252206	124252206	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:124252206C>G	uc001uft.4	+	1	110	c.85C>G	c.(85-87)Caa>Gaa	p.Q29E		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	29	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GACTTATTCTCAAAAAGTGGA	0.488000														9			7		0	0	0.000274275	0	0
SLAMF9	89886	broad.mit.edu	37	1	159922291	159922291	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:159922291A>T	uc001fus.3	-	2	542	c.425T>A	c.(424-426)tTt>tAt	p.F142Y	SLAMF9_uc009wtd.3_Intron|SLAMF9_uc001fut.3_Intron	NM_033438	NP_254273	Q96A28	SLAF9_HUMAN	Homo sapiens SLAM family member 9 (SLAMF9), transcript variant 1, mRNA.	142	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGAACTCTCAAAGTTCACAGT	0.542000														51			40		0	0	0.000781405	0	0
COL14A1	7373	broad.mit.edu	37	8	121210141	121210141	+	Silent	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr8:121210141C>T	uc003yox.3	+	6	949	c.684C>T	c.(682-684)ctC>ctT	p.L228L	COL14A1_uc003yoy.3_5'UTR|COL14A1_uc010mde.1_Intron	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	228	VWFA 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCCGAAACCTCCCATATAAAG	0.363000														32			17		0	0	0.000422831	0	0
RGPD4	285190	broad.mit.edu	37	2	108487272	108487272	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:108487272G>A	uc010ywk.2	+	19	2894	c.2812G>A	c.(2812-2814)Gaa>Aaa	p.E938K	RGPD4_uc002tdu.3_Missense_Mutation_p.E125K|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	938					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AAAGGAAAGTGAAAAGCCTCT	0.408000														182			186		0	0	0.000781405	0	0
OR4C16	219428	broad.mit.edu	37	11	55339905	55339905	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:55339905C>T	uc010rih.2	+	0	302	c.302C>T	c.(301-303)tCa>tTa	p.S101L		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CAAGTCTTTTCATCCCATGTC	0.473000														54			94		0	0	0.000781405	0	0
CASS4	57091	broad.mit.edu	37	20	55033636	55033636	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr20:55033636G>A	uc002xxp.2	+	6	2419	c.2194G>A	c.(2194-2196)Gag>Aag	p.E732K	CASS4_uc010zze.1_Missense_Mutation_p.E678K|CASS4_uc002xxr.2_Missense_Mutation_p.E732K|CASS4_uc010gio.2_Missense_Mutation_p.E295K	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	732					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CGTGCGCAACGAGATCCTCCG	0.632000														25			12		0	0	0.000151284	0	0
HMGCR	3156	broad.mit.edu	37	5	74638496	74638497	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:74638496_74638497GG>TT	uc011cst.2	+	1	378_379	c.126_127GG>TT	c.(124-129)gtgggg>gtTTgg	p.G43W	HMGCR_uc003kdp.3_Missense_Mutation_p.G23W|HMGCR_uc003kdq.3_Missense_Mutation_p.G23W|HMGCR_uc010izn.1_5'Flank	NM_000859	NP_000850	P04035	HMDH_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR), transcript variant 1, mRNA.	23					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	NADP binding|hydroxymethylglutaryl-CoA reductase (NADPH) activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	AAGTCATAGTGGGGACAGTGAC	0.436000														681			10		0	0	6.4e-05	0	0
EIF1AX	1964	broad.mit.edu	37	X	20156737	20156737	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chrX:20156737T>C	uc004czt.3	-	1	228	c.20A>G	c.(19-21)aAa>aGa	p.K7R	SCARNA9L_uc010nfp.3_5'Flank	NM_001412	NP_001403	P47813	IF1AX_HUMAN	Homo sapiens eukaryotic translation initiation factor 1A, X-linked (EIF1AX), mRNA.	7						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						TTTACCTCCTTTACCTGATGG	0.299000														26			66		0	0	0.000781405	0	0
PCDH7	5099	broad.mit.edu	37	4	30725263	30725263	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr4:30725263C>T	uc003gsk.1	+	0	3227	c.2219C>T	c.(2218-2220)cCc>cTc	p.P740L	PCDH7_uc011bxx.2_Missense_Mutation_p.P740L|PCDH7_uc021xnd.1_Missense_Mutation_p.P740L|PCDH7_uc021xnc.1_Missense_Mutation_p.P740L	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	740	Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GACAATGCTCCCACAGTTACC	0.463000														51			27		0	0	0.000878237	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48201918	48201918	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr19:48201918G>A	uc002phh.4	+	11	3470	c.3276G>A	c.(3274-3276)caG>caA	p.Q1092Q	GLTSCR1_uc002phi.4_Silent_p.Q850Q	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	Homo sapiens glioma tumor suppressor candidate region gene 1 (GLTSCR1), mRNA.	1092							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		ACAAACACCAGGGCTCCGTCC	0.657000											OREG0025594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		38			23		0	0	0.000184323	0	0
PLD1	5337	broad.mit.edu	37	3	171320999	171320999	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr3:171320999G>A	uc003fhs.3	-	26	3441	c.3094C>T	c.(3094-3096)Cga>Tga	p.R1032*	PLD1_uc003fht.3_Nonsense_Mutation_p.R994*	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	1032					Ras protein signal transduction|cell communication|chemotaxis	Golgi membrane|endoplasmic reticulum membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TCCTCAGCTCGAATGGGATCT	0.423000														46			22		0	0	0.000295444	0	0
ST3GAL4	6484	broad.mit.edu	37	11	126277483	126277484	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:126277483_126277484CG>AT	uc001qdx.1	+	3	279_280	c.262_263CG>AT	c.(262-264)cgg>ATg	p.R88M	ST3GAL4_uc001qds.3_Missense_Mutation_p.R99M|ST3GAL4_uc001qdu.3_Missense_Mutation_p.R95M|ST3GAL4_uc021qry.1_Missense_Mutation_p.R99M|ST3GAL4_uc009zce.3_Missense_Mutation_p.R95M|ST3GAL4_uc001qdw.3_Missense_Mutation_p.R98M|ST3GAL4_uc001qdz.3_5'UTR			Q11206	SIA4C_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 4 (ST3GAL4), transcript variant 3, mRNA.	99					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		TCTGCTCCTCCGGGTGCTAGCC	0.589000														118			6		0	0	6.4e-05	0	0
NLRP4	147945	broad.mit.edu	37	19	56370498	56370498	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr19:56370498T>A	uc002qmd.4	+	2	2161	c.1739T>A	c.(1738-1740)aTt>aAt	p.I580N	NLRP4_uc002qmf.3_Missense_Mutation_p.I505N|NLRP4_uc010etf.3_Missense_Mutation_p.I411N	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	580							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AACTTTCATATTATTGACAAC	0.423000														38			31		0	0	0.000491102	0	0
LTBP2	4053	broad.mit.edu	37	14	74995312	74995312	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr14:74995312C>T	uc001xqa.3	-	11	2629	c.2242G>A	c.(2242-2244)Gaa>Aaa	p.E748K		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	748					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CTTGCCAGTTCCTCCTCCTCG	0.672000														40			29		0	0	0.000227799	0	0
NIPBL	25836	broad.mit.edu	37	5	36976495	36976495	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:36976495C>T	uc003jkl.4	+	8	1985	c.1486C>T	c.(1486-1488)Caa>Taa	p.Q496*	NIPBL_uc003jkk.4_Nonsense_Mutation_p.Q496*|NIPBL_uc003jkm.1_Nonsense_Mutation_p.Q375*	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	496					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AAAAGAAGTTCAAGATAAAGG	0.338000														16			18		0	0	0.000958276	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138151	126138151	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:126138151C>T	uc001uhe.1	+	8	2140	c.2132C>T	c.(2131-2133)tCg>tTg	p.S711L	TMEM132B_uc001uhf.1_Missense_Mutation_p.S223L	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	711						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGTGATGGTTCGGTGACACCT	0.373000														33			58		0	0	0.000781405	0	0
CLCN6	1185	broad.mit.edu	37	1	11888542	11888542	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:11888542C>T	uc001ate.4	+	11	1095	c.982C>T	c.(982-984)Ctc>Ttc	p.L328F	CLCN6_uc009vnh.1_Intron|CLCN6_uc010oat.2_Missense_Mutation_p.L44F|CLCN6_uc010oau.2_Missense_Mutation_p.L306F	NM_001286	NP_001277	P51797	CLCN6_HUMAN	Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.	328					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AAAATGTCATCTCTGGACAGC	0.493000														121			107		0	0	0.000781405	0	0
PLCH1	23007	broad.mit.edu	37	3	155232638	155232638	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr3:155232638G>A	uc021xge.1	-	10	1747	c.1470C>T	c.(1468-1470)ttC>ttT	p.F490F	PLCH1_uc021xgd.1_Silent_p.F490F|PLCH1_uc021xgf.1_Silent_p.F472F	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	490					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTTTCCTTATGAAAGATTCCA	0.388000														25			20		0	0	0.000132079	0	0
ZNF608	57507	broad.mit.edu	37	5	124036878	124036878	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:124036878G>A	uc003ktq.1	-	1	1174	c.991C>T	c.(991-993)Cca>Tca	p.P331S	ZNF608_uc003ktr.1_Non-coding_Transcript|ZNF608_uc003kts.1_Missense_Mutation_p.P331S|ZNF608_uc003ktt.1_Missense_Mutation_p.P331S	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	331						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GATGAAGATGGGGAAAAGTAG	0.517000														63			53		0	0	0.000781405	0	0
FCGBP	8857	broad.mit.edu	37	19	40384163	40384163	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr19:40384163G>A	uc002omp.4	-	20	9455	c.9447C>T	c.(9445-9447)atC>atT	p.I3149I		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	3149						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGGGCAGGTGATCTCTGTGG	0.607000														233			51		0	0	0.000781405	0	0
FAM5C	339479	broad.mit.edu	37	1	190067325	190067325	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:190067325G>A	uc001gse.1	-	7	2356	c.2124C>T	c.(2122-2124)gaC>gaT	p.D708D	FAM5C_uc010pot.1_Silent_p.D606D	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	708						extracellular region		p.D708Y(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TATTTACACGGTCTCTGATCT	0.483000														56			27		0	0	0.000586117	0	0
DNAH5	1767	broad.mit.edu	37	5	13830774	13830774	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:13830774C>T	uc003jfd.2	-	35	6035	c.5993G>A	c.(5992-5994)gGg>gAg	p.G1998E		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1998	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GACGTATTTCCCGAGGCATCG	0.488000									Kartagener syndrome					38			34		0	0	0.00058488	0	0
SLC8A2	6543	broad.mit.edu	37	19	47960801	47960801	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr19:47960801G>A	uc010ele.3	-	1	742	c.726C>T	c.(724-726)ttC>ttT	p.F242F	SLC8A2_uc002pgx.3_Silent_p.F242F|SLC8A2_uc010xyq.2_5'UTR|SLC8A2_uc010xyr.2_Intron			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	242					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCATCCAGGCGAATACCACGC	0.687000														23			19		0	0	0.000229342	0	0
NUDT7	283927	broad.mit.edu	37	16	77775736	77775736	+	Silent	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:77775736C>T	uc010chd.3	+	3	697	c.606C>T	c.(604-606)atC>atT	p.I202I	NUDT7_uc021tlp.1_3'UTR|NUDT7_uc021tlq.1_Silent_p.I187I|NUDT7_uc010vnj.2_Silent_p.I149I	NM_001105663	NP_001099133	P0C024	NUDT7_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 7 (NUDT7), transcript variant 1, mRNA.	202					nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						TGGCCTTTATCATTTTGGAAA	0.368000														38			19		0	0	0.000132079	0	0
VAV1	7409	broad.mit.edu	37	19	6832125	6832125	+	Silent	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr19:6832125C>T	uc002mfu.1	+	14	1519	c.1422C>T	c.(1420-1422)atC>atT	p.I474I	VAV1_uc010xjh.1_Silent_p.I442I|VAV1_uc010dva.1_Silent_p.I474I|VAV1_uc002mfv.1_Silent_p.I419I	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	474	PH.				T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TCCTCCTGATCGAGGACCAAG	0.577000														26			19		0	0	0.000375601	0	0
TMEM63C	57156	broad.mit.edu	37	14	77703062	77703063	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr14:77703062_77703063GG>AA	uc001xtf.2	+	8	850_851	c.638_639GG>AA	c.(637-639)agg>aAA	p.R213K	TMEM63C_uc010asq.1_Missense_Mutation_p.R213K	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Homo sapiens transmembrane protein 63C (TMEM63C), mRNA.	213						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TTTGCACCCAGGAATAGCCAAA	0.550000														42			39		0	0	6.4e-05	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41984772	41984772	+	Silent	SNP	T	C	C			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr4:41984772T>C	uc003gwk.2	+	0	1060	c.963T>C	c.(961-963)caT>caC	p.H321H		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 1 (DCAF4L1), mRNA.	321										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						TGCCCCTGCATGTGCACGAGG	0.557000														38			27		0	0	0.000720815	0	0
MUC16	94025	broad.mit.edu	37	19	9025625	9025625	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr19:9025625G>A	uc002mkp.3	-	14	37033	c.36829C>T	c.(36829-36831)Cct>Tct	p.P12277S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12279	SEA 2.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGTACAGAGGGCCAACACTG	0.517000														49			18		0	0	0.000295444	0	0
OR52R1	119695	broad.mit.edu	37	11	4825289	4825289	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:4825289G>A	uc021qcs.1	-	0	322	c.322C>T	c.(322-324)Cat>Tat	p.H108Y		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAAAAGGCATGGATGAAGAAC	0.532000														54			9		0	0	0.000673444	0	0
GFRAL	389400	broad.mit.edu	37	6	55216051	55216051	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr6:55216051G>A	uc003pcm.1	+	5	457	c.371_splice	c.e5-1	p.G124_splice		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	124						integral to membrane	receptor activity	p.G124V(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTGCTTTCAGGATTCAAAGGG	0.433000														32			81		0	0	0.000781405	0	0
NSUN5P1	155400	broad.mit.edu	37	7	75045302	75045302	+	Silent	SNP	T	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:75045302T>A	uc003udh.1	+	1	223	c.180T>A	c.(178-180)ccT>ccA	p.P60P						Homo sapiens NOP2/Sun domain family, member 5 pseudogene 1 (NSUN5P1), non-coding RNA.											large_intestine(1)|lung(1)	2						CAGGGACACCTAGCCCGGTGC	0.617000														27			24		0	0	0.000184323	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	A	A	rs11554290		TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:115256529T>A	uc009wgu.3	-	2	436	c.182A>T	c.(181-183)cAa>cTa	p.Q61L		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				77			65		0	0	0.000781405	0	0
RTEL1	51750	broad.mit.edu	37	20	62321443	62321443	+	Silent	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr20:62321443C>T	uc021wge.1	+	23	2315	c.2145C>T	c.(2143-2145)ttC>ttT	p.F715F	RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_Silent_p.F715F|RTEL1_uc011abd.2_Silent_p.F739F|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_Silent_p.F492F|RTEL1_uc002yfx.1_5'UTR	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	715					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCCCCAGGTTCGCCTTTGCCG	0.632000														43			39		0	0	0.000319135	0	0
CTC1	80169	broad.mit.edu	37	17	8141746	8141746	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:8141746G>A	uc002gkq.4	-	2	458	c.399C>T	c.(397-399)ctC>ctT	p.L133L	CTC1_uc010cnv.3_Non-coding_Transcript	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	Homo sapiens CTS telomere maintenance complex component 1 (CTC1), mRNA.	133					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CTCTCACATAGAGGCTTCCGT	0.522000														117			56		0	0	0.000781405	0	0
CD5	921	broad.mit.edu	37	11	60885660	60885660	+	Silent	SNP	G	A	A	rs141935047		TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:60885660G>A	uc009ynk.3	+	2	211	c.108G>A	c.(106-108)agG>agA	p.R36R		NM_014207	NP_055022	P06127	CD5_HUMAN	Homo sapiens CD5 molecule (CD5), mRNA.	36	SRCR 1.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	p.R36R(2)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		TCCAGGCAAGGCTCACCCGTT	0.642000														22			41		0	0	0.000509022	0	0
ITGA4	3676	broad.mit.edu	37	2	182360543	182360543	+	Silent	SNP	A	G	G			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:182360543A>G	uc002unu.3	+	13	2182	c.1419A>G	c.(1417-1419)ttA>ttG	p.L473L	ITGA4_uc010frj.1_5'Flank	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	473					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ACGCTTCTTTAAGCCACCCTG	0.368000														38			39		0	0	0.000374591	0	0
MEI1	150365	broad.mit.edu	37	22	42114231	42114231	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr22:42114231C>T	uc003baz.1	+	5	711	c.686C>T	c.(685-687)tCc>tTc	p.S229F	MEI1_uc003bay.3_Missense_Mutation_p.S229F|MEI1_uc011apd.1_Non-coding_Transcript	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	229							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTCTTCCTTTCCATCCTGGAT	0.463000														33			18		0	0	0.000958276	0	0
MYO3A	53904	broad.mit.edu	37	10	26490216	26490216	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr10:26490216G>A	uc001isn.2	+	32	4928	c.4568G>A	c.(4567-4569)cGa>cAa	p.R1523Q	MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1523					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAAGAAAAACGAAGACCAAGG	0.239000														12			10		0	0	0.000978159	0	0
TUBA3D	113457	broad.mit.edu	37	2	132238055	132238056	+	Missense_Mutation	DNP	CC	TT	TT	rs149332264		TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:132238055_132238056CC>TT	uc002tsu.4	+	3	982_983	c.789_790CC>TT	c.(787-792)ccccgc>ccTTgc	p.R264C		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA.	264					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		TGCCGTACCCCCGCATCCACTT	0.584000														65			52		0	0	6.4e-05	0	0
ADAM30	11085	broad.mit.edu	37	1	120437037	120437038	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:120437037_120437038CC>AA	uc001eij.3	-	0	2110_2111	c.1922_1923GG>TT	c.(1921-1923)cgg>cTT	p.R641L		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	641	EGF-like.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TGCAAACACCCCGGGTATTGCA	0.495000														560			11		0	0	6.4e-05	0	0
SRRM2	23524	broad.mit.edu	37	16	2813159	2813159	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:2813159C>T	uc002crk.3	+	10	3179	c.2630C>T	c.(2629-2631)cCt>cTt	p.P877L	SRRM2_uc002crj.1_Missense_Mutation_p.P781L|SRRM2_uc002crl.1_Missense_Mutation_p.P877L|SRRM2_uc010bsu.1_Missense_Mutation_p.P781L	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	877	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GAATCATCACCTGACCCTGAG	0.517000														36			41		0	0	0.000374591	0	0
HEXA	3073	broad.mit.edu	37	15	72638913	72638913	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr15:72638913G>A	uc002aun.4	-	10	1492	c.1285C>T	c.(1285-1287)Cct>Tct	p.P429S	BC034424_uc002aug.3_Non-coding_Transcript|CELF6_uc002auk.3_Intron|HEXA_uc010ukn.2_Missense_Mutation_p.P440S|HEXA_uc010bix.3_Missense_Mutation_p.P429S|HEXA_uc010biy.2_Missense_Mutation_p.P292S|HEXA_uc010uko.1_Missense_Mutation_p.P255S	NM_000520	NP_000511	P06865	HEXA_HUMAN	Homo sapiens hexosaminidase A (alpha polypeptide) (HEXA), mRNA.	429					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						TTCCAGTCAGGGCCATAGGAT	0.537000														90			88		0	0	0.000781405	0	0
PRF1	5551	broad.mit.edu	37	10	72358609	72358609	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr10:72358609C>T	uc009xqg.3	-	2	1029	c.868G>A	c.(868-870)Gcc>Acc	p.A290T	PRF1_uc001jrf.4_Missense_Mutation_p.A290T	NM_001083116	NP_005032	P14222	PERF_HUMAN	Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA.	290	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						TGGAAGGAGGCCGTCATCTTG	0.607000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis					42			22		0	0	0.000229342	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	86162	86162	+	RNA	SNP	T	C	C			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	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														2			3		0	0	6.4e-05	0	0
CSNK1A1	1452	broad.mit.edu	37	5	148904678	148904679	+	Missense_Mutation	DNP	CT	AA	AA			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:148904678_148904679CT>AA	uc003lqw.1	-	2	766_767	c.286_287AG>TT	c.(286-288)agc>TTc	p.S96F	CSNK1A1_uc011dcc.2_Missense_Mutation_p.S7F|CSNK1A1_uc003lqx.1_Missense_Mutation_p.S96F|CSNK1A1_uc003lqy.1_Missense_Mutation_p.S96F|CSNK1A1_uc010jha.1_Missense_Mutation_p.S96F	NM_001025105	NP_001020276	P48729	KC1A_HUMAN	Homo sapiens casein kinase 1, alpha 1 (CSNK1A1), transcript variant 1, mRNA.	96	Protein kinase.				Wnt receptor signaling pathway|cell division|mitosis	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity	p.S96I(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GTCTTCGAGGCTAGGTCCCAGA	0.361000														18			14		0	0	6.4e-05	0	0
SP140	11262	broad.mit.edu	37	2	231134564	231134564	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:231134564C>T	uc002vql.3	+	13	1455	c.1340C>T	c.(1339-1341)tCa>tTa	p.S447L	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.3_Missense_Mutation_p.S333L|SP140_uc002vqm.3_Missense_Mutation_p.S387L|SP140_uc010fxl.3_Missense_Mutation_p.S420L	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	447					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GCGGAGCAATCAGCATATGAA	0.468000														17			24		0	0	0.000295444	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767740	143767740	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:143767740G>A	uc001ejt.3	-	0	142	c.109C>T	c.(109-111)Cgt>Tgt	p.R37C		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	Homo sapiens peptidylprolyl isomerase A (cyclophilin A)-like 4G (PPIAL4G), mRNA.	37	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						CTCAGAGCACGAAAGTTTTCT	0.478000														210			69		0	0	0.000781405	0	0
MYO7A	4647	broad.mit.edu	37	11	76909607	76909607	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:76909607G>A	uc001oyb.2	+	33	4781	c.4509G>A	c.(4507-4509)gaG>gaA	p.E1503E	MYO7A_uc010rsm.1_Silent_p.E1492E|MYO7A_uc001oyc.2_Silent_p.E1503E|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Silent_p.E714E	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1503	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TTGTGGATGAGCAGGAGCAGG	0.607000														20			4		0	0	0.000602214	0	0
METTL21A	151194	broad.mit.edu	37	2	208478098	208478098	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:208478098A>G	uc002vcf.2	-	3	489	c.329T>C	c.(328-330)tTa>tCa	p.L110S	METTL21A_uc002vce.3_Intron|METTL21A_uc010fuk.1_Missense_Mutation_p.L110S|METTL21A_uc002vcg.3_Missense_Mutation_p.L110S	NM_145280	NP_660323	Q8WXB1	MT21A_HUMAN	Homo sapiens methyltransferase like 21A (METTL21A), transcript variant 1, mRNA.	110						integral to membrane	methyltransferase activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						ATGAGGAGGTAAGTTGGCTTG	0.393000														55			27		0	0	0.000720815	0	0
DUOX2	50506	broad.mit.edu	37	15	45391914	45391914	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr15:45391914C>T	uc001zun.3	-	24	3564	c.3361G>A	c.(3361-3363)Gat>Aat	p.D1121N	DUOX2_uc010bea.3_Missense_Mutation_p.D1121N	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1121	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		ACTGCGGCATCAAAAGGCACA	0.557000														59			46		0	0	0.000781405	0	0
PLB1	151056	broad.mit.edu	37	2	28752248	28752248	+	Silent	SNP	G	A	A	rs146542771		TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:28752248G>A	uc002rmb.2	+	6	434	c.390G>A	c.(388-390)aaG>aaA	p.K130K	PLB1_uc010ezj.2_Silent_p.K130K	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	130	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					ACACTGGAAAGAGAGTCATAC	0.473000														31			20		0	0	0.000175454	0	0
C9orf24	84688	broad.mit.edu	37	9	34381019	34381019	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr9:34381019G>A	uc003zuh.1	-	4	801	c.583C>T	c.(583-585)Cat>Tat	p.H195Y	C9orf24_uc003zug.1_Missense_Mutation_p.H60Y|C9orf24_uc022bgb.1_Missense_Mutation_p.H60Y|C9orf24_uc003zuf.1_Intron|C9orf24_uc003zui.1_Missense_Mutation_p.H60Y	NM_032596	NP_115985	Q8NCR6	CI024_HUMAN	Homo sapiens chromosome 9 open reading frame 24 (C9orf24), transcript variant 1, mRNA.	195										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		TCGTAACCATGGAAGGGCAGG	0.687000														5			15		0	0	0.000308642	0	0
PFAS	5198	broad.mit.edu	37	17	8157562	8157562	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:8157562C>T	uc002gkr.3	+	2	362	c.221C>T	c.(220-222)gCt>gTt	p.A74V	PFAS_uc010vuv.2_5'UTR	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	74					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GATGATGTTGCTCGGGAGTCC	0.577000														39			24		0	0	0.000375601	0	0
MCRS1	10445	broad.mit.edu	37	12	49957222	49957222	+	Splice_Site	SNP	G	A	A	rs11544683		TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:49957222G>A	uc001rui.1	-	6	705	c.705_splice	c.e6+1	p.S235_splice	MCRS1_uc001ruj.2_Splice_Site_p.S209_splice|MCRS1_uc001ruk.1_Splice_Site_p.S222_splice|MCRS1_uc009zlj.1_Splice_Site_p.S31_splice	NM_001012300	NP_001012300	Q96EZ8	MCRS1_HUMAN	Homo sapiens microspherule protein 1 (MCRS1), transcript variant 2, mRNA.	222					DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex|cytoplasm|nucleolus	protein binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						CAGCCTTACCGATCCCACTTT	0.592000														11			11		0	0	0.000673444	0	0
ZNF710	374655	broad.mit.edu	37	15	90617385	90617385	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr15:90617385T>C	uc002bov.2	+	3	1811	c.1688T>C	c.(1687-1689)cTg>cCg	p.L563P		NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	Homo sapiens zinc finger protein 710 (ZNF710), mRNA.	563					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			TACAACCTGCTGGGCCACATG	0.602000														31			20		0	0	0.000229342	0	0
NLRP5	126206	broad.mit.edu	37	19	56530712	56530712	+	Silent	SNP	T	C	C			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr19:56530712T>C	uc002qmj.3	+	4	570	c.570T>C	c.(568-570)atT>atC	p.I190I	NLRP5_uc002qmi.3_Intron	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	190						mitochondrion|nucleolus	ATP binding	p.I190M(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TTGCAGAAATTTCACAAGCTA	0.398000														25			18		0	0	0.000375601	0	0
GNB2L1	10399	broad.mit.edu	37	5	180668622	180668622	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:180668622C>A	uc003mni.1	-	2	405	c.299G>T	c.(298-300)cGa>cTa	p.R100L	GNB2L1_uc003mnj.1_Missense_Mutation_p.R54L|GNB2L1_uc011dhk.1_Missense_Mutation_p.R100L|GNB2L1_uc010jls.3_Missense_Mutation_p.R59L|GNB2L1_uc011dhl.2_Missense_Mutation_p.R100L	NM_006098	NP_006089	P63244	GBLP_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 (GNB2L1), mRNA.	100				Missing (in Ref. 4; BAG53102).	apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|positive regulation of GTPase activity|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	SH2 domain binding|ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		GCCCACAAATCGCCTCGTGGT	0.502000														32			27		1.17739e-12	1.33641e-11	0.000878237	1	0
TTPA	7274	broad.mit.edu	37	8	63978645	63978645	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr8:63978645G>A	uc003xux.2	-	2	402	c.370C>T	c.(370-372)Ccc>Tcc	p.P124S		NM_000370	NP_000361	P49638	TTPA_HUMAN	Homo sapiens tocopherol (alpha) transfer protein (TTPA), mRNA.	124	CRAL-TRIO.				lipid metabolic process		transporter activity|vitamin E binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	AAAACTTTGGGGTCCCAGTGT	0.343000														18			13		0	0	0.000219431	0	0
HACE1	57531	broad.mit.edu	37	6	105243490	105243490	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr6:105243490G>A	uc003pqu.1	-	9	1164	c.887C>T	c.(886-888)gCt>gTt	p.A296V	HACE1_uc010kcy.1_5'UTR|HACE1_uc010kcz.1_Missense_Mutation_p.A296V	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	Homo sapiens HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1), mRNA.	296					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		AGCAACTTCAGCAAGGCTTGT	0.378000														11			29		0	0	0.000491102	0	0
XKR3	150165	broad.mit.edu	37	22	17280681	17280681	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr22:17280681C>T	uc002zlv.3	-	2	667	c.569G>A	c.(568-570)cGa>cAa	p.R190Q	XKR3_uc011agf.2_Missense_Mutation_p.R190Q	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA.	190						integral to membrane|plasma membrane		p.R190L(2)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGGCCATTCTCGTATAGTGAG	0.358000														90			62		0	0	0.000781405	0	0
ASXL3	80816	broad.mit.edu	37	18	31324348	31324348	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr18:31324348G>A	uc010dmg.1	+	11	4591	c.4536G>A	c.(4534-4536)caG>caA	p.Q1512Q	ASXL3_uc002kxq.2_Silent_p.Q1219Q	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CATCCGTACAGCCCGTGGCGT	0.557000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		23			12		0	0	0.000978159	0	0
ATP2A2	488	broad.mit.edu	37	12	110784071	110784071	+	Silent	SNP	C	T	T	rs147558863		TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:110784071C>T	uc001tqk.4	+	19	3488	c.2925C>T	c.(2923-2925)ccC>ccT	p.P975P	ATP2A2_uc001tql.4_Silent_p.P975P|ATP2A2_uc021rdt.1_Silent_p.P823P|ATP2A2_uc001tqn.4_Silent_p.P52P|ATP2A2_uc009zvn.3_Non-coding_Transcript	NM_170665	NP_733765	P16615	AT2A2_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA.	975			P -> R (in DD).		ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TCTCCTTGCCCGTGATTCTCA	0.557000														23			23		0	0	0.00047179	0	0
GPR176	11245	broad.mit.edu	37	15	40094248	40094248	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr15:40094248G>A	uc001zkj.1	-	2	1499	c.633C>T	c.(631-633)atC>atT	p.I211I	GPR176_uc010uck.1_Silent_p.I151I	NM_007223	NP_009154	Q14439	GP176_HUMAN	Homo sapiens G protein-coupled receptor 176 (GPR176), mRNA.	211					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		TGACCGTGGTGATGTTATACA	0.542000											OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		21			12		0	0	0.00010058	0	0
SLX4	84464	broad.mit.edu	37	16	3641185	3641185	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:3641185G>A	uc002cvp.2	-	11	3081	c.2454C>T	c.(2452-2454)ctC>ctT	p.L818L		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	818	Glu-rich.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TTGACCTCAAGAGTTCCTGGA	0.493000								Direct reversal of damage						122			87		0	0	0.000781405	0	0
BPIFB2	80341	broad.mit.edu	37	20	31601720	31601720	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr20:31601720C>T	uc002wyj.3	+	4	607	c.413C>T	c.(412-414)tCt>tTt	p.S138F		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	138						extracellular region	lipid binding										TCTGCCTGCTCTTTATTCTCG	0.612000														23			15		0	0	0.000308642	0	0
NRK	203447	broad.mit.edu	37	X	105153188	105153188	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chrX:105153188G>A	uc004emd.3	+	12	1858	c.1555G>A	c.(1555-1557)Gaa>Aaa	p.E519K	NRK_uc010npc.1_Missense_Mutation_p.E187K	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	519	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGTACCAGAGGAATTTCAGGG	0.547000										HNSCC(51;0.14)				4			12		0	0	0.000151284	0	0
EIF4G3	8672	broad.mit.edu	37	1	21212837	21212837	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:21212837G>A	uc001bec.3	-	13	2369	c.2113C>T	c.(2113-2115)Caa>Taa	p.Q705*	EIF4G3_uc010odi.2_Nonsense_Mutation_p.Q309*|EIF4G3_uc010odj.2_Nonsense_Mutation_p.Q704*|EIF4G3_uc009vpz.3_Nonsense_Mutation_p.Q425*|EIF4G3_uc001bef.3_Nonsense_Mutation_p.Q741*|EIF4G3_uc001bee.3_Nonsense_Mutation_p.Q711*	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	705	eIF3/EIF4A-binding (By similarity).				RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGGCCAGGTTGAGATCTTCGT	0.398000														106			89		0	0	0.000781405	0	0
FAM55C	91775	broad.mit.edu	37	3	101540275	101540275	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr3:101540275C>T	uc003dvn.3	+	7	1794	c.1157C>T	c.(1156-1158)cCc>cTc	p.P386L	FAM55C_uc010hpn.3_Missense_Mutation_p.P386L	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA.	386						extracellular region				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	32						TTGGGTAGTCCCAAGAATGTG	0.428000														46			23		0	0	0.000586117	0	0
RASAL2	9462	broad.mit.edu	37	1	178412155	178412155	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:178412155G>A	uc001glq.3	+	7	2037	c.1273G>A	c.(1273-1275)Gga>Aga	p.G425R	RASAL2_uc001glr.3_Missense_Mutation_p.G277R	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	277	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						ACCCAACAAAGGAAAGACAGG	0.428000														37			18		0	0	0.000566183	0	0
FBN1	2200	broad.mit.edu	37	15	48714179	48714179	+	Missense_Mutation	SNP	C	T	T	rs363811		TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr15:48714179C>T	uc001zwx.2	-	60	7935	c.7540G>A	c.(7540-7542)Gga>Aga	p.G2514R	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2514	EGF-like 43; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGGGTAAATCCGGGAGGACAT	0.428000														33			27		0	0	0.000878237	0	0
FGFR4	2264	broad.mit.edu	37	5	176522661	176522662	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:176522661_176522662CC>TT	uc003mfl.3	+	12	1925_1926	c.1758_1759CC>TT	c.(1756-1761)ttccca>ttTTca	p.P587S	FGFR4_uc003mfm.3_Missense_Mutation_p.P587S|FGFR4_uc011dfu.2_Missense_Mutation_p.P519S|FGFR4_uc003mfo.3_Missense_Mutation_p.P547S	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	587	Protein kinase.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	CGCTCTCCTTCCCAGTCCTGGT	0.698000										TSP Lung(9;0.080)				8			8		0	0	6.4e-05	0	0
CWH43	80157	broad.mit.edu	37	4	48990562	48990562	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr4:48990562G>A	uc003gyv.3	+	1	294	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	CWH43_uc011bzl.2_Missense_Mutation_p.E11K	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	38					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GCAAACACTAGAACTCACTGG	0.363000														50			31		0	0	0.000491102	0	0
DMBT1	1755	broad.mit.edu	37	10	124361480	124361480	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr10:124361480G>A	uc001lgk.1	+	28	3617	c.3511G>A	c.(3511-3513)Gcc>Acc	p.A1171T	DMBT1_uc001lgl.1_Missense_Mutation_p.A1161T|DMBT1_uc001lgm.1_Missense_Mutation_p.A672T|DMBT1_uc021qaf.1_Missense_Mutation_p.A1171T|DMBT1_uc021qag.1_Missense_Mutation_p.A1161T|DMBT1_uc021qah.1_Missense_Mutation_p.A672T|DMBT1_uc009xzz.1_Missense_Mutation_p.A1171T|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1171	SRCR 9.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGCCATGTCAGCCCCAGGAAA	0.592000														137			95		0	0	0.000781405	0	0
TCEB3	6924	broad.mit.edu	37	1	24078417	24078417	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:24078417C>T	uc001bho.3	+	3	1460	c.1400C>T	c.(1399-1401)tCt>tTt	p.S467F		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	Homo sapiens transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) (TCEB3), mRNA.	467					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AAAAATGACTCTAAAAGCACT	0.428000											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		77			48		0	0	0.000781405	0	0
CNTN4	152330	broad.mit.edu	37	3	3078982	3078983	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr3:3078982_3078983CC>TT	uc003bpc.3	+	17	2401_2402	c.2062_2063CC>TT	c.(2062-2064)ccc>TTc	p.P688F	CNTN4_uc003bpb.1_Missense_Mutation_p.P359F|CNTN4_uc021wsg.1_Missense_Mutation_p.P688F|CNTN4_uc003bpd.1_Missense_Mutation_p.P688F|CNTN4_uc003bpe.3_Missense_Mutation_p.P360F|CNTN4_uc003bpf.3_Missense_Mutation_p.P359F|CNTN4_uc003bpg.3_5'Flank	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	688	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GCCCAGCCGCCCCTCAGAGAAA	0.515000														143			52		0	0	6.4e-05	0	0
TMC8	147138	broad.mit.edu	37	17	76127788	76127788	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:76127788C>T	uc002jup.2	+	1	501	c.119C>T	c.(118-120)cCc>cTc	p.P40L	TMC6_uc010dhf.1_5'Flank|TMC6_uc002juk.2_5'Flank|TMC6_uc010dhg.1_5'Flank|TMC6_uc002jul.1_Intron|TMC6_uc002jun.4_5'Flank|TMC6_uc002juo.2_5'Flank|TMC6_uc010wtq.1_5'Flank|TMC8_uc010dhh.1_Missense_Mutation_p.P40L|TMC8_uc002juq.2_Intron|TMC8_uc010wtr.1_5'Flank	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	Homo sapiens transmembrane channel-like 8 (TMC8), mRNA.	40						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CGCGGGCTGCCCTATGCCATG	0.731000														10			3		0	0	0.00024832	0	0
SRSF6	6431	broad.mit.edu	37	20	42089189	42089189	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr20:42089189C>T	uc010zwg.2	+	4	795	c.625C>T	c.(625-627)Cgc>Tgc	p.R209C	SRSF6_uc002xki.3_Missense_Mutation_p.R80C	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	Homo sapiens serine/arginine-rich splicing factor 6 (SRSF6), transcript variant 1, mRNA.	209	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						AAGTAGGAGTCGCAGGAGCAG	0.438000														50			21		0	0	0.00047179	0	0
OR4K1	79544	broad.mit.edu	37	14	20404428	20404428	+	Silent	SNP	G	A	A	rs149331677	byFrequency	TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr14:20404428G>A	uc001vwj.2	+	0	662	c.603G>A	c.(601-603)acG>acA	p.T201T		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGACCCTAACGAACAGTGGCC	0.448000														88			31		0	0	0.000227799	0	0
CREB3L3	84699	broad.mit.edu	37	19	4171169	4171169	+	Silent	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr19:4171169C>T	uc002lzl.3	+	7	1088	c.972C>T	c.(970-972)gtC>gtT	p.V324V	CREB3L3_uc002lzm.3_Silent_p.V314V|CREB3L3_uc010xib.2_Silent_p.V313V|CREB3L3_uc010xic.2_Missense_Mutation_p.R280C	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	324					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACCTGTGTCGCAGTGAGTC	0.602000														23			19		0	0	0.000229342	0	0
ICAM2	3384	broad.mit.edu	37	17	62080233	62080233	+	Silent	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:62080233C>T	uc002jdu.4	-	3	934	c.702G>A	c.(700-702)ttG>ttA	p.L234L	C17orf72_uc002jdt.4_3'UTR|C17orf72_uc021ubo.1_3'UTR|C17orf72_uc010wpw.2_3'UTR|C17orf72_uc010wpu.2_3'UTR|C17orf72_uc010wpv.2_3'UTR|ICAM2_uc002jdw.4_Silent_p.L234L|ICAM2_uc010ded.3_Silent_p.L234L|ICAM2_uc002jdx.4_Silent_p.L234L|ICAM2_uc002jdv.4_Silent_p.L234L	NM_000873	NP_001093259	P13598	ICAM2_HUMAN	Homo sapiens intercellular adhesion molecule 2 (ICAM2), transcript variant 5, mRNA.	234					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						ACAGGGACAGCAACACCGACA	0.607000														19			11		0	0	0.000151284	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54912444	54912444	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:54912444G>T	uc001sgc.4	+	13	1427	c.1348G>T	c.(1348-1350)Gtg>Ttg	p.V450L	NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Missense_Mutation_p.V400L	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	450					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GAACTTGTCTGTGTGTCCAGA	0.507000														36			59		2.02796e-37	2.32372e-36	0.000781405	1	0
SLC25A20	788	broad.mit.edu	37	3	48900027	48900027	+	Silent	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr3:48900027C>T	uc003cva.4	-	4	682	c.483G>A	c.(481-483)caG>caA	p.Q161Q	SLC25A20_uc011bbw.2_Silent_p.Q111Q	NM_000387	NP_000378	O43772	MCAT_HUMAN	Homo sapiens solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 (SLC25A20), nuclear gene encoding mitochondrial protein, mRNA.	161					carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	TCCCAAACTCCTGGTACAGCT	0.512000														44			23		0	0	0.000375601	0	0
MSR1	4481	broad.mit.edu	37	8	16001120	16001120	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr8:16001120C>T	uc010lsu.3	-	8	1098	c.1034_splice	c.e8-1	p.G345_splice	MSR1_uc003wwz.3_Splice_Site_p.G327_splice|MSR1_uc003wxa.3_Splice_Site_p.G327_splice|MSR1_uc003wxb.3_Splice_Site_p.G327_splice|MSR1_uc011kxz.2_Splice_Site_p.G101_splice	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	327					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TCCAGAATTTCCTTGAGAAAA	0.313000														31			29		0	0	0.000279167	0	0
SLC14A2	8170	broad.mit.edu	37	18	43243782	43243782	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr18:43243782C>T	uc002lbe.3	+	10	2200	c.1384C>T	c.(1384-1386)Cca>Tca	p.P462S	SLC14A2_uc010dnj.3_Missense_Mutation_p.P462S	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	462						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CACAGCAGGCCCAAAGGTGGA	0.587000														19			16		0	0	0.000958276	0	0
CARM1	10498	broad.mit.edu	37	19	11015633	11015633	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr19:11015633A>T	uc002mpz.3	+	1	353	c.227A>T	c.(226-228)gAt>gTt	p.D76V	CARM1_uc010dxn.3_Non-coding_Transcript	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	Homo sapiens coactivator-associated arginine methyltransferase 1 (CARM1), mRNA.	76					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GTAGATGAAGATGTGTGTGTC	0.587000														28			12		0	0	0.000308642	0	0
IDE	3416	broad.mit.edu	37	10	94274782	94274783	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr10:94274782_94274783CC>AA	uc001kia.3	-	4	754_755	c.678_679GG>TT	c.(676-681)ctggag>ctTTag	p.E227*		NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	227					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGTCTAGTCTCCAGAGTATATT	0.342000														503			10		0	0	6.4e-05	0	0
TET1	80312	broad.mit.edu	37	10	70405958	70405958	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr10:70405958C>T	uc001jok.4	+	3	3977	c.3472C>T	c.(3472-3474)Cgg>Tgg	p.R1158W		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	1158					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ATCAAGAGATCGGCGGAAAAA	0.393000														33			19		0	0	0.000958276	0	0
POTEC	388468	broad.mit.edu	37	18	14542899	14542899	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr18:14542899A>G	uc010dln.3	-	0	701	c.247T>C	c.(247-249)Tct>Cct	p.S83P	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	83								p.S83S(1)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGGTCTCCAGAAGTGCCCACG	0.582000														196			36		0	0	0.00058488	0	0
ASB10	136371	broad.mit.edu	37	7	150883937	150883937	+	Missense_Mutation	SNP	C	T	T	rs147737381	byFrequency	TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:150883937C>T	uc003wjm.1	-	0	542	c.281G>A	c.(280-282)cGa>cAa	p.R94Q	ASB10_uc003wjl.1_Missense_Mutation_p.R94Q|ASB10_uc003wjn.1_Intron	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10), transcript variant 1, mRNA.	94					intracellular signal transduction			p.R94R(1)		NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATCCCTCCATCGCTCTGGGTC	0.642000														10			17		0	0	0.00074312	0	0
CWH43	80157	broad.mit.edu	37	4	48990547	48990547	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr4:48990547C>T	uc003gyv.3	+	1	279	c.97C>T	c.(97-99)Cct>Tct	p.P33S	CWH43_uc011bzl.2_Missense_Mutation_p.P6S	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	33					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CTATTACTTTCCTTTGCAAAC	0.348000														39			39		0	0	0.000374591	0	0
SLC5A3	6526	broad.mit.edu	37	21	35467810	35467811	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr21:35467810_35467811GG>TT	uc021wir.1	+	0	313_314	c.313_314GG>TT	c.(313-315)ggg>TTg	p.G105L	SLC5A3_uc002yto.3_Missense_Mutation_p.G105L|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	105						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						CATCCGGTCAGGGGTATATACC	0.450000														668			11		0	0	6.4e-05	0	0
BMPER	168667	broad.mit.edu	37	7	34094871	34094871	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:34094871C>T	uc011kap.2	+	9	1257	c.883C>T	c.(883-885)Cca>Tca	p.P295S		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	295					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ACGAGTGCCCCCAGAAGACAT	0.493000														110			49		0	0	0.000781405	0	0
NEK1	4750	broad.mit.edu	37	4	170398364	170398364	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr4:170398364G>A	uc003isd.2	-	25	2923	c.2345C>T	c.(2344-2346)tCa>tTa	p.S782L	NEK1_uc003ise.2_Missense_Mutation_p.S738L|NEK1_uc003isb.2_Missense_Mutation_p.S754L|NEK1_uc003isc.2_Missense_Mutation_p.S710L|NEK1_uc003isf.2_Missense_Mutation_p.S685L	NM_001199397	NP_001186326	Q96PY6	NEK1_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 1 (NEK1), transcript variant 1, mRNA.	754					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		GCGATCAGATGAAACTGATTT	0.373000														11			5		0	0	0.000602214	0	0
MARCH1	55016	broad.mit.edu	37	4	164534466	164534466	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr4:164534466C>T	uc003iqs.2	-	5	424	c.242_splice	c.e5+1	p.R81_splice	MARCH1_uc003iqr.2_Splice_Site_p.R64_splice	NM_001166373	NP_001159845	Q8TCQ1	MARH1_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 1 (MARCH1), transcript variant 1, mRNA.	81					antigen processing and presentation of peptide antigen via MHC class II|immune response	Golgi apparatus|cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CAGCACTTACCTGCAGATGTC	0.423000														39			30		0	0	0.000279167	0	0
DSCAML1	57453	broad.mit.edu	37	11	117391915	117391915	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:117391915G>A	uc001prh.1	-	5	1325	c.1323C>T	c.(1321-1323)tcC>tcT	p.S441S	DSCAML1_uc001pri.1_Silent_p.S245S	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	381	Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.S441S(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGTAGGCCCCGGAATGGCTCT	0.652000														72			6		0	0	8.12818e-05	0	0
NOTCH2	4853	broad.mit.edu	37	1	120462982	120462983	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:120462982_120462983GG>TT	uc001eik.3	-	29	5645_5646	c.5348_5349CC>AA	c.(5347-5349)ccc>cAA	p.P1783Q		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	1783					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTCGATCAATGGGGTCATCTTC	0.540000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					466			9		0	0	6.4e-05	0	0
ZNF708	7562	broad.mit.edu	37	19	21476689	21476689	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr19:21476689T>C	uc002npq.1	-	3	1277	c.1079A>G	c.(1078-1080)gAa>gGa	p.E360G	ZNF708_uc002npr.1_Missense_Mutation_p.E296G|ZNF708_uc010ecs.1_Missense_Mutation_p.E296G	NM_021269	NP_067092	P17019	ZN708_HUMAN	Homo sapiens zinc finger protein 708 (ZNF708), mRNA.	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						GGGTTTCTCTTCAGTATGAAT	0.363000														47			4		0	0	0.000602214	0	0
DNMBP	23268	broad.mit.edu	37	10	101643911	101643911	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr10:101643911G>A	uc001kqj.2	-	14	3946	c.3854C>T	c.(3853-3855)cCc>cTc	p.P1285L	DNMBP_uc010qpl.1_Missense_Mutation_p.P221L|DNMBP_uc001kqg.2_Missense_Mutation_p.P573L|DNMBP_uc001kqh.2_Missense_Mutation_p.P917L	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	1285	SH3 5.				intracellular signal transduction|regulation of Rho protein signal transduction	Golgi stack|cell junction|cytoskeleton|synapse	Rho guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TTTTTCAGGGGGATACCTGGC	0.483000														54			31		0	0	0.000814825	0	0
TMEM53	79639	broad.mit.edu	37	1	45120414	45120414	+	Silent	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:45120414C>T	uc001cmc.3	-	2	687	c.651G>A	c.(649-651)tcG>tcA	p.S217S	TMEM53_uc001cmd.3_Silent_p.S144S|TMEM53_uc009vxh.1_Silent_p.S100S|TMEM53_uc010ola.1_Silent_p.S100S	NM_024587	NP_078863	Q6P2H8	TMM53_HUMAN	Homo sapiens transmembrane protein 53 (TMEM53), mRNA.	217						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					CGTCAGCCCTCGAGTAGAGGT	0.612000														56			43		0	0	0.000437636	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17158169	17158169	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:17158169G>A	uc001mmq.4	-	7	1773	c.1708C>T	c.(1708-1710)Caa>Taa	p.Q570*	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Nonsense_Mutation_p.Q190*|PIK3C2A_uc001mmr.3_Intron|PIK3C2A_uc010rcx.1_Nonsense_Mutation_p.Q570*	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	570					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.N569I(1)		central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	GCTCGGTGTTGGTTCtttaaa	0.328000														15			37		0	0	0.000692331	0	0
THADA	63892	broad.mit.edu	37	2	43725981	43725982	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:43725981_43725982CG>AT	uc002rsw.4	-	24	4086_4087	c.3734_3735CG>AT	c.(3733-3735)ccg>cAT	p.P1245H	THADA_uc010far.3_Missense_Mutation_p.P514H|THADA_uc002rsx.4_Missense_Mutation_p.P1245H|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Missense_Mutation_p.P954H|THADA_uc010fat.1_Missense_Mutation_p.P392H|THADA_uc002rta.2_Missense_Mutation_p.P955H	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	1245							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CTGCCCAGACCGGTGATGTAAA	0.361000														311			10		0	0	6.4e-05	0	0
GALNT14	79623	broad.mit.edu	37	2	31154987	31154987	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:31154987G>A	uc002rns.3	-	10	1660	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F	GALNT14_uc002rnq.3_Silent_p.F315F|GALNT14_uc010ymr.2_Silent_p.F300F|GALNT14_uc002rnr.3_Silent_p.F335F|GALNT14_uc010ezo.2_Silent_p.F302F|GALNT14_uc010ezp.1_3'UTR	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	335						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GCTTCTTCCGGAAGACGTGCC	0.597000														48			26		0	0	0.000586117	0	0
OR2G6	391211	broad.mit.edu	37	1	248685759	248685759	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:248685759G>A	uc001ien.1	+	0	812	c.812G>A	c.(811-813)gGa>gAa	p.G271E		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAAAACCAGGGAAAGTTTGTT	0.438000														47			39		0	0	0.000319135	0	0
MCM3	4172	broad.mit.edu	37	6	52138585	52138585	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr6:52138585G>A	uc003pan.1	-	9	1614	c.1504C>T	c.(1504-1506)Ctt>Ttt	p.L502F	MCM3_uc011dwu.1_Missense_Mutation_p.L456F	NM_002388	NP_002379	P25205	MCM3_HUMAN	Homo sapiens minichromosome maintenance complex component 3 (MCM3), mRNA.	502	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|alpha DNA polymerase:primase complex|centrosome|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					TGCATCCGAAGGACATGGTCT	0.502000														9			23		0	0	0.000720815	0	0
GTF2A1	2957	broad.mit.edu	37	14	81662540	81662540	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr14:81662540A>G	uc001xvf.1	-	5	956	c.524T>C	c.(523-525)aTc>aCc	p.I175T	GTF2A1_uc010atb.1_Missense_Mutation_p.I125T|GTF2A1_uc001xvg.1_Missense_Mutation_p.I136T	NM_015859	NP_963889	P52655	TF2AA_HUMAN	Homo sapiens general transcription factor IIA, 1, 19/37kDa (GTF2A1), transcript variant 1, mRNA.	175					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|TBP-class protein binding|protein binding|protein heterodimerization activity|transcription coactivator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		AGGCTGAAAGATATATTGGGC	0.438000														53			37		0	0	0.000228196	0	0
MAP3K9	4293	broad.mit.edu	37	14	71199552	71199552	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr14:71199552G>A	uc001xmm.3	-	10	2534	c.2534C>T	c.(2533-2535)tCc>tTc	p.S845F	MAP3K9_uc010ttk.2_Missense_Mutation_p.S573F|MAP3K9_uc001xmk.3_Missense_Mutation_p.S578F|MAP3K9_uc001xml.3_Missense_Mutation_p.S859F	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	845					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GGAGCGTGTGGAGTTGCACTC	0.592000														15			10		0	0	0.000442599	0	0
PPP6R3	55291	broad.mit.edu	37	11	68312311	68312311	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:68312311C>T	uc001onv.3	+	3	500	c.233C>T	c.(232-234)cCa>cTa	p.P78L	PPP6R3_uc010rqb.1_5'UTR|PPP6R3_uc001onw.3_Missense_Mutation_p.P78L|PPP6R3_uc001ony.4_Missense_Mutation_p.P78L|PPP6R3_uc001onx.3_Missense_Mutation_p.P78L|PPP6R3_uc009ysh.3_Missense_Mutation_p.P78L|PPP6R3_uc001onu.3_Missense_Mutation_p.P78L|PPP6R3_uc010rqc.2_5'UTR	NM_001164160	NP_001157632	Q5H9R7	PP6R3_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 3 (PPP6R3), transcript variant 4, mRNA.	78					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCTAGGTATCCAAATATATCT	0.333000														13			10		0	0	0.000442599	0	0
MGAM	8972	broad.mit.edu	37	7	141734599	141734599	+	Silent	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:141734599C>T	uc003vwy.3	+	15	1971	c.1917C>T	c.(1915-1917)tcC>tcT	p.S639S		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	639	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGAGATGGTCCATCCCTGGCG	0.512000														23			19		0	0	0.000958276	0	0
IGSF1	3547	broad.mit.edu	37	X	130408805	130408805	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chrX:130408805G>A	uc004ewe.4	-	17	3817	c.3534C>T	c.(3532-3534)ttC>ttT	p.F1178F	IGSF1_uc004ewd.3_Silent_p.F1173F|IGSF1_uc022cdv.1_Silent_p.F1164F|IGSF1_uc004ewf.2_Silent_p.F1153F	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	1173	Ig-like C2-type 12.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCCCTAACTTGAACATGGTGC	0.488000														30			93		0	0	0.000781405	0	0
RIMBP2	23504	broad.mit.edu	37	12	130926407	130926407	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:130926407G>A	uc001uil.2	-	7	1655	c.1439C>T	c.(1438-1440)tCc>tTc	p.S480F	RIMBP2_uc001uim.3_Missense_Mutation_p.S388F	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	480						cell junction|synapse		p.S480C(2)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AGGCAACGTGGAGAACTCCAC	0.612000														22			7		0	0	0.000274275	0	0
ANXA10	11199	broad.mit.edu	37	4	169098907	169098907	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr4:169098907G>A	uc003irm.3	+	6	661	c.497G>A	c.(496-498)gGa>gAa	p.G166E	ANXA10_uc003irn.3_Missense_Mutation_p.G38E	NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	Homo sapiens annexin A10 (ANXA10), mRNA.	166							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		AGAGAGGAAGGATATACAGAC	0.438000														39			22		0	0	0.000295444	0	0
ITGAV	3685	broad.mit.edu	37	2	187519427	187519428	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:187519427_187519428GG>AA	uc002upq.3	+	15	1832_1833	c.1556_1557GG>AA	c.(1555-1557)agg>aAA	p.R519K	ITGAV_uc010frs.3_Missense_Mutation_p.R483K|ITGAV_uc010zfv.2_Missense_Mutation_p.R473K	NM_002210	NP_002201	P06756	ITAV_HUMAN	Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.	519					ERK1 and ERK2 cascade|angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GTACTTCCCAGGAAACTTAGTA	0.267000														32			19		0	0	6.4e-05	0	0
FMN2	56776	broad.mit.edu	37	1	240370636	240370636	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:240370636G>A	uc010pye.2	+	5	2761	c.2536G>A	c.(2536-2538)Gaa>Aaa	p.E846K	FMN2_uc010pyd.2_Missense_Mutation_p.E842K	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	842	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.E985K(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AACCAGCCACGAACACTCTGT	0.557000														42			32		0	0	0.000409698	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688844	26688844	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr22:26688844G>A	uc003acb.3	+	1	763	c.567G>A	c.(565-567)aaG>aaA	p.K189K	SEZ6L_uc003acd.3_Silent_p.K189K|SEZ6L_uc011akd.2_Silent_p.K189K|SEZ6L_uc003ace.3_Silent_p.K189K|SEZ6L_uc011akc.2_Silent_p.K189K|SEZ6L_uc003acc.3_Silent_p.K189K|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	189						endoplasmic reticulum membrane|integral to membrane		p.R188Q(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TGGACCGAAAGGAGAGTGCGG	0.662000														40			15		0	0	0.000422831	0	0
OR10A3	26496	broad.mit.edu	37	11	7961019	7961019	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:7961019A>G	uc010rbi.2	-	0	49	c.49T>C	c.(49-51)Ttt>Ctt	p.F17L		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAGTTAGAAAAGCCCAGGAGG	0.398000														10			26		0	0	0.00106085	0	0
UMODL1	89766	broad.mit.edu	37	21	43524199	43524199	+	Splice_Site	SNP	T	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr21:43524199T>A	uc002zag.1	+	9	1519	c.1519_splice	c.e9+2	p.D507_splice	UMODL1_uc002zad.1_Splice_Site_p.D435_splice|UMODL1_uc002zae.1_Splice_Site_p.D435_splice|UMODL1_uc002zaf.1_Splice_Site_p.D507_splice|C21orf128_uc002zak.2_Intron	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	507	EGF-like 2; calcium-binding (Potential).					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GCGTGCAAGGTATGGCCCAGC	0.567000														14			12		0	0	0.000978159	0	0
FNTA	2339	broad.mit.edu	37	8	42932451	42932451	+	Silent	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr8:42932451C>T	uc003xps.3	+	5	774	c.726C>T	c.(724-726)ttC>ttT	p.F242F	FNTA_uc003xpt.3_Silent_p.F151F|FNTA_uc003xpv.3_Non-coding_Transcript	NM_002027	NP_002018	P49354	FNTA_HUMAN	Homo sapiens farnesyltransferase, CAAX box, alpha (FNTA), transcript variant 1, mRNA.	242					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	CAAX-protein geranylgeranyltransferase activity|alpha-tubulin binding|microtubule binding|protein farnesyltransferase activity			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AAAGATACTTCGTTATTTCTA	0.393000														43			30		0	0	0.000227799	0	0
SPANXN5	494197	broad.mit.edu	37	X	52825638	52825638	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chrX:52825638C>T	uc004drc.1	-	1	109	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K		NM_001009616	NP_001009616	Q5MJ07	SPXN5_HUMAN	Homo sapiens SPANX family, member N5 (SPANXN5), mRNA.	37								p.E37K(2)		large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					AAACTCGGTTCGAGGACTAAG	0.388000														7			37		0	0	0.000814825	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459589	107459589	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:107459589G>A	uc002tdq.3	-	1	964	c.845C>T	c.(844-846)gCc>gTc	p.A282V	ST6GAL2_uc002tdr.3_Missense_Mutation_p.A282V|ST6GAL2_uc002tds.3_Missense_Mutation_p.A282V	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	282					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CAGGGGCACGGCGGGCACCAG	0.711000														7			9		0	0	0.000274275	0	0
ATP6V0D1	9114	broad.mit.edu	37	16	67473036	67473036	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:67473036G>A	uc010vjo.1	-	6	877	c.777C>T	c.(775-777)cgC>cgT	p.R259R	ATP6V0D1_uc002ete.1_Silent_p.R218R|ATP6V0D1_uc010vjn.1_Silent_p.R141R	NM_004691	NP_004682	P61421	VA0D1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 (ATP6V0D1), mRNA.	218					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		TGAAGGCGCGGCGGTCTGCTT	0.592000														60			39		0	0	0.000319135	0	0
SSTR1	6751	broad.mit.edu	37	14	38678982	38678982	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr14:38678982T>G	uc021rsi.1	+	0	388	c.388T>G	c.(388-390)Tgc>Ggc	p.C130G	SSTR1_uc001wul.1_Missense_Mutation_p.C130G	NM_001049	NP_001040	P30872	SSR1_HUMAN	Homo sapiens somatostatin receptor 1 (SSTR1), mRNA.	130					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	TGCGCTGCTCTGCCGCCTCGT	0.602000														97			57		0	0	0.000781405	0	0
GPR171	29909	broad.mit.edu	37	3	150917042	150917042	+	Silent	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr3:150917042C>T	uc003eyq.4	-	2	372	c.132G>A	c.(130-132)acG>acA	p.T44T	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|GPR171_uc021xfy.1_Silent_p.T44T	NM_013308	NP_037440	O14626	GP171_HUMAN	Homo sapiens G protein-coupled receptor 171 (GPR171), mRNA.	44						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACCTGTGATTCGTATTCTTCT	0.368000														62			35		0	0	0.000953801	0	0
TRIM56	81844	broad.mit.edu	37	7	100732120	100732120	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:100732120G>A	uc003uxq.3	+	2	1758	c.1527G>A	c.(1525-1527)cgG>cgA	p.R509R	TRIM56_uc003uxr.3_Intron|TRIM56_uc022aiw.1_Silent_p.R509R	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	Homo sapiens tripartite motif containing 56 (TRIM56), mRNA.	509					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GGTCCCCCCGGATCACCGGGC	0.647000														56			30		0	0	0.000279167	0	0
DNAH17	8632	broad.mit.edu	37	17	76492090	76492090	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:76492090G>A	uc010dhp.2	-	37	5895	c.5770C>T	c.(5770-5772)Cgg>Tgg	p.R1924W	AK127460_uc002jvt.1_5'Flank	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.									p.R1919W(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTCTTGGCCCGAATTGCATCC	0.512000														36			31		0	0	0.000409698	0	0
SIRPB1	10326	broad.mit.edu	37	20	1552568	1552568	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr20:1552568C>T	uc010gai.3	-	2	648	c.549G>A	c.(547-549)tgG>tgA	p.W183*	SIRPB1_uc002wfk.4_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	183	Ig-like C1-type 1.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CATTTTTGAACCATTTCAGGG	0.582000														55			40		0	0	0.000509022	0	0
RP1	6101	broad.mit.edu	37	8	55538573	55538573	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr8:55538573G>A	uc003xsd.1	+	3	2279	c.2131G>A	c.(2131-2133)Gaa>Aaa	p.E711K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	711					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AATTACAAAGGAAATGATAGT	0.353000														18			17		0	0	0.00074312	0	0
PHF20	51230	broad.mit.edu	37	20	34451305	34451305	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr20:34451305C>T	uc002xek.1	+	5	902	c.791C>T	c.(790-792)cCt>cTt	p.P264L	PHF20_uc002xei.1_Missense_Mutation_p.P264L|PHF20_uc010gfo.1_Missense_Mutation_p.P264L|PHF20_uc002xej.1_Missense_Mutation_p.P148L|PHF20_uc002xel.1_Missense_Mutation_p.P126L	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	Homo sapiens PHD finger protein 20 (PHF20), mRNA.	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GGCAGACCCCCTTCCATAGCT	0.448000														64			44		0	0	0.000781405	0	0
RIMBP2	23504	broad.mit.edu	37	12	130919365	130919365	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:130919365C>T	uc001uil.2	-	10	2332	c.2116G>A	c.(2116-2118)Gag>Aag	p.E706K	RIMBP2_uc001uim.3_Missense_Mutation_p.E614K	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	706						cell junction|synapse		p.D705D(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCGTCCTCCTCGTCTGAGGCG	0.597000														33			27		0	0	0.000720815	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129370	248129370	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:248129370G>A	uc010pzd.2	+	0	737	c.737G>A	c.(736-738)gGa>gAa	p.G246E	OR2L13_uc001ids.3_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AK, member 2 (OR2AK2), mRNA.	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S245T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	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)			ATGAGCTCAGGAAAAGGACAG	0.478000														33			22		0	0	0.000295444	0	0
ASTN1	460	broad.mit.edu	37	1	176853604	176853604	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:176853604C>T	uc001glc.3	-	18	3309	c.3097G>A	c.(3097-3099)Gag>Aag	p.E1033K	ASTN1_uc001glb.1_Missense_Mutation_p.E1033K|ASTN1_uc001gld.1_Missense_Mutation_p.E1033K	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1041	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTGCTGGGCTCGTGAACCGTG	0.522000														43			28		0	0	0.000227799	0	0
NPNT	255743	broad.mit.edu	37	4	106863676	106863676	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr4:106863676C>T	uc011cfd.2	+	8	1279	c.1066C>T	c.(1066-1068)Cct>Tct	p.P356S	NPNT_uc011cfc.2_Missense_Mutation_p.P343S|NPNT_uc011cfe.2_Missense_Mutation_p.P356S|NPNT_uc003hya.3_Missense_Mutation_p.P326S|NPNT_uc011cff.2_Missense_Mutation_p.P326S	NM_001184691	NP_001171620	Q6UXI9	NPNT_HUMAN	Homo sapiens nephronectin (NPNT), transcript variant 3, mRNA.	326	Pro-rich.				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AACACCAATTCCTACTCCACC	0.512000														27			21		0	0	0.000375601	0	0
IFI16	3428	broad.mit.edu	37	1	159023442	159023442	+	Silent	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:159023442C>T	uc001ftg.3	+	9	2327	c.2037C>T	c.(2035-2037)ctC>ctT	p.L679L	IFI16_uc010pis.2_Silent_p.L679L|IFI16_uc010pit.2_Silent_p.L679L	NM_005531	NP_005522	Q16666	IF16_HUMAN	Homo sapiens interferon, gamma-inducible protein 16 (IFI16), transcript variant 2, mRNA.	735	HIN-200 2.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|cell proliferation|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					AACTGAAACTCACCTGCTTTG	0.403000														36			25		0	0	0.00106085	0	0
C17orf75	64149	broad.mit.edu	37	17	30661607	30661607	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:30661607C>G	uc002hhg.3	-	7	822	c.752G>C	c.(751-753)aGt>aCt	p.S251T		NM_022344	NP_071739	Q9HAS0	NJMU_HUMAN	Homo sapiens chromosome 17 open reading frame 75 (C17orf75), mRNA.	251					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TCCTTGAAGACTGGCCACACT	0.473000														10			9		0	0	0.000274275	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64547408	64547409	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr3:64547408_64547409CG>AT	uc003dmg.3	-	29	4575_4576	c.4543_4544CG>AT	c.(4543-4545)cga>ATa	p.R1515I	ADAMTS9_uc011bfo.2_Missense_Mutation_p.R1487I|ADAMTS9_uc003dmh.1_Missense_Mutation_p.R1344I|ADAMTS9_uc011bfp.1_Missense_Mutation_p.R426I|AK125532_uc003dmi.1_Non-coding_Transcript	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1515	TSP type-1 12.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTGTACGCCTCGGCCACAGGAC	0.569000														307			6		0	0	6.4e-05	0	0
MGAM	8972	broad.mit.edu	37	7	141752214	141752214	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:141752214G>A	uc003vwy.3	+	24	2980	c.2926G>A	c.(2926-2928)Gaa>Aaa	p.E976K		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	976	P-type 2.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGCTTCTGCCGAAAACTGCAC	0.453000														20			7		0	0	0.000157383	0	0
SMARCA4	6597	broad.mit.edu	37	19	11134211	11134211	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr19:11134211G>A	uc010dxp.3	+	20	3237	c.2877G>A	c.(2875-2877)gaG>gaA	p.E959E	SMARCA4_uc010dxo.3_Silent_p.E959E|SMARCA4_uc002mqf.4_Silent_p.E959E|SMARCA4_uc002mqg.1_Silent_p.E959E|SMARCA4_uc010dxq.3_Silent_p.E959E|SMARCA4_uc010dxr.3_Silent_p.E959E|SMARCA4_uc002mqj.4_Silent_p.E959E|SMARCA4_uc010dxs.3_Silent_p.E959E|SMARCA4_uc010dxt.1_Silent_p.E179E|SMARCA4_uc002mqh.4_Silent_p.E82E|SMARCA4_uc002mqi.1_Silent_p.E162E	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	959					chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TGAATGAGGAGGAAACCATTC	0.572000			"""F, N, Mis"""		NSCLC									20			17		0	0	0.000958276	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138423	126138423	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:126138423G>A	uc001uhe.1	+	8	2412	c.2404G>A	c.(2404-2406)Gat>Aat	p.D802N	TMEM132B_uc001uhf.1_Missense_Mutation_p.D314N	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	802						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGGCAGCAATGATATTGAGGG	0.473000														40			6		0	0	3.59834e-05	0	0
RUNDC3A	10900	broad.mit.edu	37	17	42393802	42393802	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:42393802G>A	uc002igl.4	+	8	1277	c.1003G>A	c.(1003-1005)Gag>Aag	p.E335K	RUNDC3A_uc002igi.3_Missense_Mutation_p.E335K|RUNDC3A_uc002igj.3_Missense_Mutation_p.E330K	NM_001144825	NP_001138297	Q59EK9	RUN3A_HUMAN	Homo sapiens RUN domain containing 3A (RUNDC3A), transcript variant 1, mRNA.	335					small GTPase mediated signal transduction		small GTPase regulator activity			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GGGTTCCAAGGAGCTCACTAC	0.627000														26			21		0	0	0.000229342	0	0
DSG4	147409	broad.mit.edu	37	18	28972133	28972133	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr18:28972133G>A	uc002kwr.2	+	7	970	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	DSG4_uc002kwq.2_Missense_Mutation_p.E279K	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	279	Cadherin 3.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGCCAGTATTGAAGAGAATTG	0.308000														53			25		0	0	0.00106085	0	0
GABRA1	2554	broad.mit.edu	37	5	161324263	161324263	+	Silent	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:161324263C>T	uc010jiw.3	+	10	1674	c.1206C>T	c.(1204-1206)ccC>ccT	p.P402P	GABRA1_uc010jix.3_Silent_p.P402P|GABRA1_uc010jiy.3_Silent_p.P402P|GABRA1_uc003lyx.4_Silent_p.P402P|GABRA1_uc010jiz.3_Silent_p.P402P|GABRA1_uc010jja.3_Silent_p.P402P|GABRA1_uc010jjb.3_Silent_p.P402P	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	402					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	AGGTCAAGCCCGAAACAAAAC	0.478000														71			44		0	0	0.000680045	0	0
WASF3	10810	broad.mit.edu	37	13	27256852	27256852	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr13:27256852G>A	uc001uqv.3	+	8	1317	c.1092G>A	c.(1090-1092)caG>caA	p.Q364Q	WASF3_uc001uqw.3_Silent_p.Q361Q	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	364					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		GCCCTCTCCAGATGCCCATGC	0.637000														52			8		0	0	0.000442599	0	0
THEMIS	387357	broad.mit.edu	37	6	128176241	128176241	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr6:128176241C>T	uc011ebt.2	-	1	333	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	THEMIS_uc010kfa.3_5'UTR|THEMIS_uc021zfa.1_Missense_Mutation_p.E62K|THEMIS_uc010kfb.3_Missense_Mutation_p.E27K	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	62	CABIT 1.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TCACAAATTTCAGCTATGATC	0.358000														7			27		0	0	0.000720815	0	0
SLC4A10	57282	broad.mit.edu	37	2	162761339	162761339	+	Silent	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:162761339C>T	uc002ubx.4	+	13	1855	c.1671C>T	c.(1669-1671)ctC>ctT	p.L557L	SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Silent_p.L538L|SLC4A10_uc002uby.4_Silent_p.L527L	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	557					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CCTATTCTCTCTTTGGTGGAC	0.388000														87			47		0	0	0.000781405	0	0
SHROOM2	357	broad.mit.edu	37	X	9863352	9863352	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chrX:9863352G>A	uc004csu.1	+	3	1494	c.1404G>A	c.(1402-1404)caG>caA	p.Q468Q		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	468					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GCTGTGACCAGAAGCTGGGGA	0.672000														5			16		0	0	0.000308642	0	0
SCAF8	22828	broad.mit.edu	37	6	155153376	155153376	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr6:155153376C>T	uc003qqa.3	+	20	2895	c.2663C>T	c.(2662-2664)cCa>cTa	p.P888L	TIAM2_uc003qqb.3_5'Flank|SCAF8_uc011efj.2_Missense_Mutation_p.P954L|SCAF8_uc011efk.2_Missense_Mutation_p.P933L|SCAF8_uc003qpz.3_Missense_Mutation_p.P888L|SCAF8_uc010kji.3_Intron	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	Homo sapiens SR-related CTD-associated factor 8 (SCAF8), mRNA.	888	Pro-rich.				RNA splicing|mRNA processing	nuclear matrix|spliceosomal complex	RNA binding|RNA polymerase core enzyme binding|nucleotide binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						GTACAGCCACCAAATGTTCCA	0.463000														19			49		0	0	0.000781405	0	0
C16orf62	57020	broad.mit.edu	37	16	19680613	19680613	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:19680613A>T	uc002dgn.2	+	26	2668	c.2353A>T	c.(2353-2355)Ata>Tta	p.I785L	C16orf62_uc002dgo.2_Missense_Mutation_p.I781L|C16orf62_uc002dgp.2_Missense_Mutation_p.I534L	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA.	785						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TACTTTATTAATAGTTCCGGT	0.408000														36			44		0	0	0.000781405	0	0
ZRSR1	7310	broad.mit.edu	37	5	112228602	112228602	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:112228602G>C	uc021ycm.1	+	0	1294	c.1266G>C	c.(1264-1266)agG>agC	p.R422S	SRP19_uc011cvu.2_3'UTR|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron					RecName: Full=U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 1; AltName: Full=CCCH type zinc finger, RNA-binding motif and serine/arginine rich protein 1; AltName: Full=U2(RNU2) small nuclear RNA auxiliary factor 1-like 1;											breast(1)|skin(1)|stomach(2)	4						GTCGGGAGAGGCACAATTCAC	0.552000														8			3		0	0	6.4e-05	0	0
SPEF2	79925	broad.mit.edu	37	5	35667215	35667215	+	Silent	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:35667215C>T	uc003jjo.3	+	8	1320	c.1209C>T	c.(1207-1209)ttC>ttT	p.F403F	SPEF2_uc003jjn.1_Silent_p.F403F|SPEF2_uc003jjq.4_Silent_p.F403F	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	403					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGAACAATTCCTTAAAGAAA	0.308000														29			22		0	0	0.000586117	0	0
STMN3	50861	broad.mit.edu	37	20	62275253	62275253	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr20:62275253G>A	uc002yfr.1	-	2	229	c.147C>T	c.(145-147)gcC>gcT	p.A49A	STMN3_uc021wgd.1_Non-coding_Transcript	NM_015894	NP_056978	Q9NZ72	STMN3_HUMAN	Homo sapiens stathmin-like 3 (STMN3), mRNA.	49					cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of Rac GTPase activity|regulation of cytoskeleton organization	cytoplasm	protein domain specific binding	p.R48W(1)		kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			TCTGGCCTGAGGCCCGCTTGT	0.627000														60			35		0	0	0.000814825	0	0
KRT37	8688	broad.mit.edu	37	17	39578665	39578665	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:39578665G>A	uc002hwp.1	-	3	801	c.754C>T	c.(754-756)Cag>Tag	p.Q252*		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	252	Linker 12.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				TCCCCCAGCTGACTCCTCAGA	0.562000														77			74		0	0	0.000781405	0	0
ANO4	121601	broad.mit.edu	37	12	101510498	101510498	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:101510498G>A	uc010svm.1	+	24	3064	c.2492G>A	c.(2491-2493)cGa>cAa	p.R831Q	ANO4_uc001thw.2_Missense_Mutation_p.R796Q|ANO4_uc001thx.2_Missense_Mutation_p.R831Q|ANO4_uc001thy.2_Missense_Mutation_p.R351Q	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	831						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TCTGTATTTCGAATTTCTGAC	0.483000										HNSCC(74;0.22)				45			47		0	0	0.000781405	0	0
POLR3E	55718	broad.mit.edu	37	16	22314310	22314310	+	Silent	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:22314310C>T	uc002dkk.3	+	1	177	c.21C>T	c.(19-21)gaC>gaT	p.D7D	POLR3E_uc002dkj.1_Silent_p.D7D|POLR3E_uc002dkm.3_Intron|POLR3E_uc010vbr.2_Silent_p.D7D|POLR3E_uc002dkl.3_Silent_p.D7D|POLR3E_uc010vbs.2_Silent_p.D7D|POLR3E_uc010vbt.2_5'UTR	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide E (80kD) (POLR3E), mRNA.	7					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		AAGAGGATGACCCAGTTGTAC	0.582000														65			56		0	0	0.000781405	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156632252	156632252	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr4:156632252G>A	uc003iov.3	+	6	1471	c.935G>A	c.(934-936)aGa>aAa	p.R312K	GUCY1A3_uc003iou.2_Missense_Mutation_p.R312K|GUCY1A3_uc010iqc.2_Missense_Mutation_p.R312K|GUCY1A3_uc010iqd.3_Missense_Mutation_p.R311K|GUCY1A3_uc003iow.3_Missense_Mutation_p.R312K|GUCY1A3_uc003iox.3_Missense_Mutation_p.R312K|GUCY1A3_uc010iqe.3_Missense_Mutation_p.R77K|GUCY1A3_uc003ioy.3_Missense_Mutation_p.R312K|GUCY1A3_uc003ioz.3_Missense_Mutation_p.R77K|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Missense_Mutation_p.R312K	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	312					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		ATGAACAGGAGAGACTTTCAA	0.378000														38			22		0	0	0.000586117	0	0
MAVS	57506	broad.mit.edu	37	20	3846632	3846632	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr20:3846632G>A	uc002wjw.4	+	6	1633	c.1461G>A	c.(1459-1461)gcG>gcA	p.A487A	MAVS_uc002wjx.4_Silent_p.A346A|MAVS_uc002wjy.4_Silent_p.A185A	NM_020746	NP_001193420	Q7Z434	MAVS_HUMAN	Homo sapiens mitochondrial antiviral signaling protein (MAVS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	487					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of IP-10 production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GGCCACCTGCGGACCCGGATG	0.662000														34			27		0	0	0.00106085	0	0
CMKLR1	1240	broad.mit.edu	37	12	108685628	108685629	+	Missense_Mutation	DNP	CC	TT	TT	rs149078040	by1000genomes	TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:108685628_108685629CC>TT	uc009zuw.3	-	2	1302_1303	c.1111_1112GG>AA	c.(1111-1113)ggc>AAc	p.G371N	CMKLR1_uc001tmw.3_Missense_Mutation_p.G371N|CMKLR1_uc001tmv.3_Missense_Mutation_p.G369N|CMKLR1_uc009zuv.3_Missense_Mutation_p.G371N|CMKLR1_uc021rdj.1_Missense_Mutation_p.G369N	NM_001142345	NP_004063	Q99788	CML1_HUMAN	Homo sapiens chemokine-like receptor 1 (CMKLR1), transcript variant 4, mRNA.	371					chemotaxis|immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-12 production|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						TCAAAGCATGCCGGTCTCCCTC	0.475000														56			10		0	0	6.4e-05	0	0
ALDH18A1	5832	broad.mit.edu	37	10	97402770	97402770	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr10:97402770G>A	uc001kkz.3	-	2	524	c.282C>T	c.(280-282)cgC>cgT	p.R94R	ALDH18A1_uc001kky.3_Silent_p.R94R|ALDH18A1_uc010qog.2_Intron|ALDH18A1_uc010qoh.2_Intron	NM_002860	NP_002851	P54886	P5CS_HUMAN	Homo sapiens aldehyde dehydrogenase 18 family, member A1 (ALDH18A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	94	Glutamate 5-kinase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	TAGATGCCAAGCGCCCCAGGG	0.507000														17			18		0	0	0.000566183	0	0
ZNF615	284370	broad.mit.edu	37	19	52497837	52497837	+	Silent	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr19:52497837G>A	uc002pyf.2	-	6	842	c.525C>T	c.(523-525)tcC>tcT	p.S175S	AK128361_uc021uys.1_5'Flank|ZNF615_uc002pye.2_Silent_p.S164S|ZNF615_uc002pyh.2_Silent_p.S175S|ZNF615_uc010epi.2_Silent_p.S171S|ZNF615_uc002pyg.2_Silent_p.S56S|ZNF615_uc010ydg.2_Silent_p.S169S	NM_001199324	NP_001186253	Q8N8J6	ZN615_HUMAN	Homo sapiens zinc finger protein 615 (ZNF615), transcript variant 1, mRNA.	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CATGAAAAAGGGATTTCCCAT	0.328000														65			41		0	0	0.000374591	0	0
CRB1	23418	broad.mit.edu	37	1	197404099	197404099	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:197404099G>A	uc001gtz.3	+	8	3315	c.3106G>A	c.(3106-3108)Gaa>Aaa	p.E1036K	CRB1_uc010poz.2_Missense_Mutation_p.E1012K|CRB1_uc009wza.3_Missense_Mutation_p.E924K|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.E517K|CRB1_uc001gub.1_Missense_Mutation_p.E685K	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1036	Laminin G-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CACATGGCACGAAGTGACCCT	0.453000														67			31		0	0	0.000339439	0	0
ADAM11	4185	broad.mit.edu	37	17	42850229	42850229	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:42850229G>A	uc002ihh.3	+	8	683	c.683G>A	c.(682-684)cGc>cAc	p.R228H	ADAM11_uc010wjd.2_Missense_Mutation_p.R28H	NM_002390	NP_002381	O75078	ADA11_HUMAN	Homo sapiens ADAM metallopeptidase domain 11 (ADAM11), mRNA.	228					integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.R228H(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CCCCAGGTCCGCCGGGGCCAC	0.607000														22			17		0	0	0.000958276	0	0
MUC17	140453	broad.mit.edu	37	7	100679881	100679881	+	Silent	SNP	T	C	C			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:100679881T>C	uc003uxp.1	+	2	5237	c.5184T>C	c.(5182-5184)cgT>cgC	p.R1728R	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1728	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGAAGCCCGTTCATCTCCTA	0.502000														186			103		0	0	0.000781405	0	0
PAMR1	25891	broad.mit.edu	37	11	35492184	35492184	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:35492184A>G	uc001mwf.3	-	4	720	c.677T>C	c.(676-678)tTt>tCt	p.F226S	PAMR1_uc001mwg.3_Missense_Mutation_p.F226S|PAMR1_uc010rew.2_Intron|PAMR1_uc010rex.2_Missense_Mutation_p.F186S	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	226	CUB.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GAAACCGTCAAAATTCTTGGA	0.488000														48			6		0	0	8.12818e-05	0	0
SH3RF2	153769	broad.mit.edu	37	5	145379706	145379706	+	Missense_Mutation	SNP	G	A	A	rs140312306		TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:145379706G>A	uc003lnt.3	+	2	702	c.464G>A	c.(463-465)cGg>cAg	p.R155Q	SH3RF2_uc011dbl.1_Missense_Mutation_p.R155Q	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	155	SH3 1.						ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCCTTCTCCGGAGACAGCTT	0.537000														40			36		0	0	0.000953801	0	0
PRSS1	5644	broad.mit.edu	37	7	142458515	142458515	+	Silent	SNP	C	T	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:142458515C>T	uc003wak.2	+	1	167	c.150C>T	c.(148-150)ggC>ggT	p.G50G	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_Missense_Mutation_p.L26F|PRSS1_uc003wam.2_5'Flank	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	50	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			TCTGTGGTGGCTCCCTCATCA	0.562000														60			39		0	0	0.000437636	0	0
NBPF10	100132406	broad.mit.edu	37	1	144615246	144615247	+	Splice_Site	INS	-	AG	AG	rs10625215		TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:144615246_144615247insAG	uc009wig.1	+	2	308	c.114_splice	c.e2+2	p.L38_splice	NBPF10_uc010oxo.1_Intron|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_5'UTR|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_5'UTR|NBPF10_uc009wif.1_Non-coding_Transcript|PFN1P2_uc001elf.4_5'Flank	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	38										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GTAAACCTCAAAGAGATGTTTT	0.470													---	171	---	---	8	---					
HLA-C	3107	broad.mit.edu	37	6	31324737	31324737	+	Frame_Shift_Del	DEL	G	-	-	rs41563916		TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr6:31324737delG	uc021yum.1	-	0	220	c.104delC	c.(103-105)ccafs	p.P35fs	HLA-C_uc003ntf.2_Intron|HLA-C_uc003ntg.1_5'Flank|HLA-C_uc003nth.2_Intron|HLA-C_uc003nti.1_5'Flank|HLA-C_uc010jsn.1_5'Flank|HLA-C_uc010jso.2_5'Flank			Q9TNN7	1C05_HUMAN	SubName: Full=Major histocompatibility complex, class I, B; Flags: Fragment;	0	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GTGGGAGCCTGGGGGTGAGGA	0.721													---	11	---	---	6	---					
SACS	26278	broad.mit.edu	37	13	23909148	23909148	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr13:23909148delA	uc001uon.2	-	9	9456	c.8867delT	c.(8866-8868)ttafs	p.L2956fs	SACS_uc001uoo.2_Frame_Shift_Del_p.L2809fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	2956					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAACTTCTTTAAAGTGTCCTT	0.353													---	28	---	---	35	---					
EDNRB	1910	broad.mit.edu	37	13	78477656	78477657	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr13:78477656_78477657insA	uc001vkp.1	-	2	992_993	c.839_840insT	c.(838-840)ctgfs	p.L280fs	EDNRB_uc001vkq.1_Frame_Shift_Ins_p.L190fs|BC031243_uc001vkn.1_Intron|EDNRB_uc001vko.2_Frame_Shift_Ins_p.L190fs|EDNRB_uc010aez.1_Frame_Shift_Ins_p.L190fs	NM_001201397	NP_001188326	P24530	EDNRB_HUMAN	Homo sapiens endothelin receptor type B (EDNRB), transcript variant 4, mRNA.	190					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	CACATAGACTCAGCACAGTGAT	0.406													---	63	---	---	9	---